From b921407fd5537ef83bdb24c9181e2055fbeea792 Mon Sep 17 00:00:00 2001
From: hdashnow <3794821+hdashnow@users.noreply.github.com>
Date: Tue, 2 Jun 2026 09:52:01 +0000
Subject: [PATCH] [create-pull-request] automated change
---
data/STRchive-citations.json | 10997 ++++++++++------------
data/STRchive-loci.json | 78 +-
data/literature/ABCD3_batch_01.txt | 51 +-
data/literature/AFF3_batch_01.txt | 12 +-
data/literature/ARX_batch_01.txt | 4 +
data/literature/AR_batch_01.txt | 382 +-
data/literature/ATN1_batch_01.txt | 159 +-
data/literature/ATXN1_batch_01.txt | 163 +-
data/literature/ATXN2_batch_01.txt | 685 +-
data/literature/ATXN3_batch_01.txt | 863 +-
data/literature/ATXN7_batch_01.txt | 96 +-
data/literature/ATXN8OS_batch_01.txt | 389 +-
data/literature/C9orf72_batch_01.txt | 1684 +++-
data/literature/CACNA1A_batch_01.txt | 285 +-
data/literature/CEL_batch_01.txt | 3363 +++++++
data/literature/CNBP_batch_01.txt | 463 +-
data/literature/CSNK1E_batch_01.txt | 156 +
data/literature/CSTB_batch_01.txt | 178 +
data/literature/DIP2B_batch_01.txt | 93 +
data/literature/DMD_batch_01.txt | 83 +
data/literature/DMPK_batch_01.txt | 436 +-
data/literature/FGF14_batch_01.txt | 785 +-
data/literature/FMR1_batch_01.txt | 178 +-
data/literature/FXN_batch_01.txt | 344 +-
data/literature/GIPC1_batch_01.txt | 205 +-
data/literature/GLS_batch_01.txt | 10 +-
data/literature/GOLGA8A_batch_01.txt | 714 ++
data/literature/HTT_batch_01.txt | 1347 ++-
data/literature/LRP12_batch_01.txt | 58 +-
data/literature/MARCHF6_batch_01.txt | 17 +-
data/literature/MUC1_batch_01.txt | 133 +-
data/literature/NIPA1_batch_01.txt | 2 +-
data/literature/NOP56_batch_01.txt | 2 +-
data/literature/NOTCH2NLC_batch_01.txt | 327 +-
data/literature/NUTM2B-AS1_batch_01.txt | 43 +-
data/literature/PABPN1_batch_01.txt | 310 +
data/literature/PPP2R2B_batch_01.txt | 142 +-
data/literature/RFC1_batch_01.txt | 667 +-
data/literature/RILPL1_batch_01.txt | 49 +-
data/literature/RUNX2_batch_01.txt | 1 +
data/literature/SAMD12_batch_01.txt | 2 +-
data/literature/TAF1_batch_01.txt | 173 +-
data/literature/TBC1D7_batch_01.txt | 126 +
data/literature/TBP_batch_01.txt | 317 +-
data/literature/TBX1_batch_01.txt | 3 +-
data/literature/TCF4_batch_01.txt | 237 +-
data/literature/TYMS_batch_01.txt | 356 +-
data/literature/VWA1_batch_01.txt | 37 +-
data/literature/YEATS2_batch_01.txt | 2 +-
data/literature/new_loci_batch_01.txt | 3337 ++++++-
50 files changed, 22982 insertions(+), 7562 deletions(-)
create mode 100644 data/literature/CEL_batch_01.txt
create mode 100644 data/literature/CSNK1E_batch_01.txt
create mode 100644 data/literature/GOLGA8A_batch_01.txt
create mode 100644 data/literature/TBC1D7_batch_01.txt
diff --git a/data/STRchive-citations.json b/data/STRchive-citations.json
index bdb34f8d..46f8e2b5 100644
--- a/data/STRchive-citations.json
+++ b/data/STRchive-citations.json
@@ -1863,31 +1863,9 @@
},
{
"id": "pmid:16804541",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/16804541",
- "title": "Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.",
- "type": "article-journal",
- "doi": "10.1038/ng1827",
- "authors": [
- ["Melinda L", "Moseley"],
- ["Tao", "Zu"],
- ["Yoshio", "Ikeda"],
- ["Wangcai", "Gao"],
- ["Anne K", "Mosemiller"],
- ["Randy S", "Daughters"],
- ["Gang", "Chen"],
- ["Marcy R", "Weatherspoon"],
- ["H Brent", "Clark"],
- ["Timothy J", "Ebner"],
- ["John W", "Day"],
- ["Laura P W", "Ranum"]
- ],
- "publisher": "Nature genetics",
- "issn": "1061-4036",
- "date": "2006-06-25",
- "abstract": "We previously reported that a (CTG)n expansion causes spinocerebellar ataxia type 8 (SCA8), a slowly progressive ataxia with reduced penetrance. We now report a transgenic mouse model in which the full-length human SCA8 mutation is transcribed using its endogenous promoter. (CTG)116 expansion, but not (CTG)11 control lines, develop a progressive neurological phenotype with in vivo imaging showing reduced cerebellar-cortical inhibition. 1C2-positive intranuclear inclusions in cerebellar Purkinje and brainstem neurons in SCA8 expansion mice and human SCA8 autopsy tissue result from translation of a polyglutamine protein, encoded on a previously unidentified antiparallel transcript (ataxin 8, ATXN8) spanning the repeat in the CAG direction. The neurological phenotype in SCA8 BAC expansion but not BAC control lines demonstrates the pathogenicity of the (CTG-CAG)n expansion. Moreover, the expression of noncoding (CUG)n expansion transcripts (ataxin 8 opposite strand, ATXN8OS) and the discovery of intranuclear polyglutamine inclusions suggests SCA8 pathogenesis involves toxic gain-of-function mechanisms at both the protein and RNA levels.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16804541"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/16804541",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:16804541']' timed out after 3 seconds"
},
{
"id": "pmid:20373340",
@@ -2291,6 +2269,53 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22406228"
},
+{
+ "id": "pmid:41951733",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41951733",
+ "title": "Population-scale repeat expansions elucidate disease risk and brain atrophy.",
+ "type": "article-journal",
+ "doi": "10.1038/s41586-026-10345-6",
+ "authors": [
+ ["Vijay Kumar", "Pounraja"],
+ ["Jae Hoon", "Sul"],
+ ["Joseph", "Herman"],
+ ["Sean", "O'Keeffe"],
+ ["Veera", "Rajagopal"],
+ ["Xiaodong", "Bai"],
+ ["Michael D", "Kessler"],
+ ["Neelroop", "Parikshak"],
+ ["Karl", "Landheer"],
+ ["Xingmin", "Zhang"],
+ ["Sean", "Yu"],
+ ["Lance", "Zhang"],
+ ["Michelle G", "LeBlanc"],
+ ["Jennifer", "Rico-Varela"],
+ ["Frederic", "Grau"],
+ ["Sarah", "Wolf"],
+ ["Sriramkumar", "Sundaramoorthy"],
+ ["Farshid", "Sepehrband"],
+ ["Eli A", "Stahl"],
+ ["Yuda", "Huo"],
+ ["Mohsin", "Ahmed"],
+ ["Susan", "Croll"],
+ ["William", "Salerno"],
+ ["John D", "Overton"],
+ ["Jonathan", "Marchini"],
+ ["Jeffrey", "Reid"],
+ ["Luca A", "Lotta"],
+ ["Aris", "Baras"],
+ ["Goncalo R", "Abecasis"],
+ ["Giovanni", "Coppola"],
+ ["Sahar", "Gelfman"]
+ ],
+ "publisher": "Nature",
+ "issn": "1476-4687",
+ "date": "2026-04-08",
+ "abstract": "Pathogenic expansions of short tandem repeats (STRs) cause over 70 neurological diseases",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41951733"
+},
{
"id": "pmid:28319737",
"manubot_success": true,
@@ -2419,6 +2444,46 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39709476"
},
+{
+ "id": "pmid:41986690",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41986690",
+ "title": "Somatic mosaicism in ALS and FTD identifies focal mutations associated with widespread degeneration.",
+ "type": "article-journal",
+ "doi": "10.1038/s41588-026-02570-6",
+ "authors": [
+ ["Zinan", "Zhou"],
+ ["Junho", "Kim"],
+ ["August Yue", "Huang"],
+ ["Matthew", "Nolan"],
+ ["Junseok", "Park"],
+ ["Ryan", "Doan"],
+ ["Taehwan", "Shin"],
+ ["Michael B", "Miller"],
+ ["Mingyun", "Bae"],
+ ["Boxun", "Zhao"],
+ ["Jinhyeong", "Kim"],
+ ["Brian", "Chhouk"],
+ ["Katherine", "Morillo"],
+ ["Rebecca C", "Yeh"],
+ ["Connor", "Kenny"],
+ ["Jennifer E", "Neil"],
+ ["Chao-Zong", "Lee"],
+ ["Takuya", "Ohkubo"],
+ ["John", "Ravits"],
+ ["Olaf", "Ansorge"],
+ ["Lyle W", "Ostrow"],
+ ["Clotilde", "Lagier-Tourenne"],
+ ["Eunjung Alice", "Lee"],
+ ["Christopher A", "Walsh"]
+ ],
+ "publisher": "Nature genetics",
+ "issn": "1546-1718",
+ "date": "2026-04-15",
+ "abstract": "Although mutations in many genes cause familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), most cases are sporadic (sALS and sFTD) with unclear etiology. Here we tested whether somatic mutations contribute to sALS and sFTD by deep targeted sequencing of 88 neurodegeneration-related genes in postmortem brain and spinal cord samples from 399 sporadic cases and 144 controls. Predicted deleterious somatic variants in ALS/FTD genes were observed in 2.1% of sporadic cases lacking deleterious germline variants. These variants occurred at very low allele fractions (typically <2%) and were often focal and enriched in disease-affected regions. Analysis of bulk RNA-sequencing data from an additional cohort identified deleterious somatic variants in DYNC1H1 and LMNA, genes associated with pediatric motor neuron degeneration. Targeted long-read sequencing further identified one sFTD case with de novo somatic C9orf72 repeat expansions. Together, these findings suggest that rare, focal somatic variants can contribute to sALS and sFTD and drive widespread neurodegeneration.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41986690"
+},
{
"id": "pmid:28522837",
"manubot_success": true,
@@ -2441,6 +2506,30 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28522837"
},
+{
+ "id": "pmid:39226712",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39226712",
+ "title": "C9orf72 gene repeat expansion phenotype profile of motor neurone disease in Portugal.",
+ "type": "article-journal",
+ "doi": "10.1016/j.jns.2024.123208",
+ "authors": [
+ ["Cl\u00e1udia", "Santos Silva"],
+ ["Marta", "Gormicho"],
+ ["Sara", "Sim\u00e3o"],
+ ["Ana Catarina", "Pronto-Laborinho"],
+ ["In\u00eas", "Alves"],
+ ["Susana", "Pinto"],
+ ["Miguel", "Oliveira Santos"],
+ ["Mamede", "de Carvalho"]
+ ],
+ "publisher": "Journal of the neurological sciences",
+ "issn": "1878-5883",
+ "date": "2024-08-30",
+ "abstract": "C9orf72 gene repeat expansion (C9RE) is the most frequent gene variant associated with amyotrophic lateral sclerosis (ALS). We aimed to study the phenotype of motor neurone disease (MND) patients with C9RE in a Portuguese cohort.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39226712"
+},
{
"id": "pmid:38149039",
"manubot_success": true,
@@ -2575,6 +2664,48 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41074692"
},
+{
+ "id": "pmid:41957010",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41957010",
+ "title": "Unraveling the genetic architecture of non-Huntington chorea: a biobank-scale study of rare variants and repeat expansions.",
+ "type": "article-journal",
+ "doi": "10.1038/s41525-026-00567-y",
+ "authors": [
+ ["Fulya", "Ak\u00e7imen"],
+ ["Monica", "Diez-Fairen"],
+ ["Ignacio", "Alvarez"],
+ ["Victor", "Puente"],
+ ["Spencer", "Grant"],
+ ["Jorge", "Hernandez-Vara"],
+ ["Marzieh", "Khani"],
+ ["Mariateresa", "Buongiorno"],
+ ["F\u00e9lix Javier", "Jim\u00e9nez-Jim\u00e9nez"],
+ ["Jos\u00e9 A G", "Ag\u00fandez"],
+ ["Miquel", "Aguilar"],
+ ["Esther", "Cubo"],
+ ["Jesus", "Perez"],
+ ["Javier", "Pagonabarraga"],
+ ["N\u00faria", "Caballol"],
+ ["Asuncion", "Avila"],
+ ["Jinhui", "Ding"],
+ ["Elena", "Garc\u00eda-Mart\u00edn"],
+ ["Hortensia", "Alonso-Navarro"],
+ ["Yaroslau", "Compta"],
+ ["Carlos", "Cruchaga"],
+ ["Katrin", "Beyer"],
+ ["J Raphael", "Gibbs"],
+ ["Andrew", "Singleton"],
+ ["Sara", "Bandres-Ciga"],
+ ["Pau", "Pastor"]
+ ],
+ "publisher": "NPJ genomic medicine",
+ "issn": "2056-7944",
+ "date": "2026-04-09",
+ "abstract": "Chorea can arise from genetic, metabolic, pharmacologic, and autoimmune causes. In clinical practice, however, non-genetic causes are rare. The most common genetic cause is a CAG repeat expansion in HTT, leading to Huntington's disease (HD). Beyond HD, systematic studies have been lacking and many individuals with non-HD chorea remain without a molecular diagnosis. We conducted whole-exome and genome sequencing analysis on 190 non-HD chorea cases, leveraging data from the All of Us Research Program (n\u2009=\u2009134), UK Biobank (n\u2009=\u200926), and a clinically ascertained multicenter Spanish cohort recruited by the Spanish Study Group for Genetics of Chorea (SSGGC) (n\u2009=\u200930). Variant calling was performed without pre-filtering based on a disease or gene list, and variants were clinically contextualized using OMIM, ClinVar, and in silico predictions. We identified thirteen protein-altering variants, including six previously described as pathogenic or likely pathogenic. Notably, we identified a pathogenic JPH3 expansion in a patient of Black race and c9orf72 expansions in individuals of European and South Asian ancestry. These findings explained 23% of cases in the SSGGC, 12% in UK Biobank, and 4% in All of Us. Our results broaden the genetic architecture of non-HD chorea and highlight the value of multi-ancestry genomic approaches for rare movement disorders.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41957010"
+},
{
"id": "pmid:8988170",
"manubot_success": true,
@@ -2698,6 +2829,85 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19267933"
},
+{
+ "id": "pmid:19760265",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/19760265",
+ "title": "Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes.",
+ "type": "article-journal",
+ "doi": "10.1007/s00439-009-0740-8",
+ "authors": [
+ ["Janniche", "Torsvik"],
+ ["Stefan", "Johansson"],
+ ["Anders", "Johansen"],
+ ["Jakob", "Ek"],
+ ["Jayne", "Minton"],
+ ["Helge", "Raeder"],
+ ["Sian", "Ellard"],
+ ["Andrew", "Hattersley"],
+ ["Oluf", "Pedersen"],
+ ["Torben", "Hansen"],
+ ["Anders", "Molven"],
+ ["P\u00e5l R", "Nj\u00f8lstad"]
+ ],
+ "publisher": "Human genetics",
+ "issn": "1432-1203",
+ "date": "2009-09-17",
+ "abstract": "We have previously shown that heterozygous single-base deletions in the carboxyl-ester lipase (CEL) gene cause exocrine and endocrine pancreatic dysfunction in two multigenerational families. These deletions were found in the first and fourth repeats of a variable number of tandem repeats (VNTR), which has proven challenging to sequence due to high GC-content and considerable length variation. We have therefore developed a screening method consisting of a multiplex PCR followed by fragment analysis. The method detected putative disease-causing insertions and deletions in the proximal repeats of the VNTR, and determined the VNTR-length of each allele. When blindly testing 56 members of the two families with known single-base deletions in the CEL VNTR, the method correctly assessed the mutation carriers. Screening of 241 probands from suspected maturity-onset diabetes of the young (MODY) families negative for mutations in known MODY genes (95 individuals from Denmark and 146 individuals from UK) revealed no deletions in the proximal repeats of the CEL VNTR. However, we found one Danish patient with a short, novel CEL allele containing only three VNTR repeats (normal range 7-23 in healthy controls). This allele co-segregated with diabetes or impaired glucose tolerance in the patient's family as six of seven mutation carriers were affected. We also identified individuals who had three copies of a complete CEL VNTR. In conclusion, the CEL gene is highly polymorphic, but mutations in CEL are likely to be a rare cause of monogenic diabetes.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19760265"
+},
+{
+ "id": "pmid:16369531",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/16369531",
+ "title": "Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.",
+ "type": "article-journal",
+ "doi": "10.1038/ng1708",
+ "authors": [
+ ["Helge", "Raeder"],
+ ["Stefan", "Johansson"],
+ ["P\u00e5l I", "Holm"],
+ ["Ingfrid S", "Haldorsen"],
+ ["Eric", "Mas"],
+ ["V\u00e9ronique", "Sbarra"],
+ ["Ingrid", "Nermoen"],
+ ["Stig A", "Eide"],
+ ["Louise", "Grevle"],
+ ["Lise", "Bj\u00f8rkhaug"],
+ ["J\u00f8rn V", "Sagen"],
+ ["Lage", "Aksnes"],
+ ["Oddmund", "S\u00f8vik"],
+ ["Dominique", "Lombardo"],
+ ["Anders", "Molven"],
+ ["P\u00e5l Rasmus", "Nj\u00f8lstad"]
+ ],
+ "publisher": "Nature genetics",
+ "issn": "1061-4036",
+ "date": "2005-12-20",
+ "abstract": "Dysfunction of the exocrine pancreas is observed in diabetes, but links between concurrent exocrine and endocrine pancreatic disease and contributing genetic factors are poorly characterized. We studied two families with diabetes and exocrine pancreatic dysfunction by genetic, physiological and in vitro functional studies. A genome-wide screen in Family 1 linked diabetes to chromosome 9q34 (maximal lod score 5.07). Using fecal elastase deficiency as a marker of exocrine pancreatic dysfunction refined the critical chromosomal region to 1.16 Mb (maximal lod score 11.6). Here, we identified a single-base deletion in the variable number of tandem repeats (VNTR)-containing exon 11 of the carboxyl ester lipase (CEL) gene, a major component of pancreatic juice and responsible for the duodenal hydrolysis of cholesterol esters. Screening subjects with maturity-onset diabetes of the young identified Family 2, with another single-base deletion in CEL and a similar phenotype with beta-cell failure and pancreatic exocrine disease. The in vitro catalytic activities of wild-type and mutant CEL protein were comparable. The mutant enzyme was, however, less stable and secreted at a lower rate. Furthermore, we found some evidence for an association between common insertions in the CEL VNTR and exocrine dysfunction in a group of 182 unrelated subjects with diabetes (odds ratio 4.2 (1.6, 11.5)). Our findings link diabetes to the disrupted function of a lipase in the pancreatic acinar cells.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16369531"
+},
+{
+ "id": "pmid:39361122",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39361122",
+ "title": "Unraveling the genetic basis of MODY: insights from next-generation sequencing.",
+ "type": "article-journal",
+ "doi": "10.1007/s13353-024-00907-7",
+ "authors": [
+ ["Metin", "Eser"],
+ ["Gulam", "Hekimoglu"],
+ ["Fatma", "Dursun"]
+ ],
+ "publisher": "Journal of applied genetics",
+ "issn": "2190-3883",
+ "date": "2024-10-03",
+ "abstract": "Maturity-onset diabetes of the young (MODY) is an uncommon kind of monogenic diabetes. The major characteristics of MODY include not having insulin resistance and the absence of autoimmunity, early onset, and a family history suggesting autosomal-dominant inheritance. Nonetheless, genetic testing is necessary for diagnosis. The MODY-related genes CEL, ABCC8, PDX1, GCK, WFS1, HNF4A, HNF1A, and HNF1B were examined using Next Generation Sequencing (NGS) in this investigation. This study aimed to evaluate the genetic and clinical characteristics of patients referred with a preliminary diagnosis of MODY, retrospectively. A total of 30 patients (18 male and 12 female) participated, with ages ranging from 5 to 56. Eight distinct genetic variants were identified in 17 cases (57%). Pathogenic variants in the HNF1A gene have been identified. Likely pathogenic variants were found in CEL, ABCC8, GCK, and HNF4A. The genes APPL1, BLK, INS, KCNJ1, KLF11, NEUROD1, PAX4, RFX6, and ZFP57 were shown to be mutation-free. Four distinct pathogenic variants are found in this series. Unexpectedly high rates of pathogenic variants have been found in the HNF1A gene. In 27% of cases, there is a family history of vertically transmitted diabetes. The study highlights the importance of genetic testing for individuals with early-onset diabetes and a strong family history of the condition. Comprehensive genetic testing and increased public awareness are essential for MODY.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39361122"
+},
{
"id": "pmid:29086017",
"manubot_success": true,
@@ -2770,6 +2980,32 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22140091"
},
+{
+ "id": "pmid:42003432",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42003432",
+ "title": "Distinct cellular effects of myotonic dystrophy type 2 repeat-associated non-AUG tetrapeptides.",
+ "type": "article-journal",
+ "doi": "10.1242/dmm.052729",
+ "authors": [
+ ["Marta", "Marzullo"],
+ ["Assia", "De Simone"],
+ ["Marta", "Terribili"],
+ ["Michela", "Di Salvio"],
+ ["Degisew Yinur", "Mengistu"],
+ ["Maria Patrizia", "Somma"],
+ ["Rodrigo", "D'Amico"],
+ ["Gianluca", "Canettieri"],
+ ["Gianluca", "Cestra"],
+ ["Laura", "Ciapponi"]
+ ],
+ "publisher": "Disease models & mechanisms",
+ "issn": "1754-8411",
+ "date": "2026-05-18",
+ "abstract": "Myotonic dystrophy type 2 (DM2) is an autosomal dominant, multisystemic disorder caused by the expansion of CCTG repeats in the first intron of the CNBP gene. Repeat-associated non-AUG (RAN) translation of the expanded CCTG RNA generates two tetrapeptide repeat proteins, polyQAGR and polyLPAC, but their roles in DM2 pathogenesis remain unclear. To define their individual contributions, we expressed codon-optimized polyQAGR and polyLPAC peptides with an ATG start codon in Drosophila melanogaster. Expression of both tetrapeptide repeat proteins reduced viability and lifespan and induced eye degeneration and locomotor defects. We found that polyQAGR accumulated in the nucleolus, disrupted nucleolar integrity and impaired rRNA processing. It also interfered with autophagy, promoting Atg5 and Atg7 transcription and accumulation of Atg8a- and Ref(2)P-positive aggregates. Overexpression of Atg8a or Ref(2)P mitigated polyQAGR-induced eye toxicity, whereas knockdown of autophagy genes worsened it. Conversely, PolyLPAC expression increased the cytoplasmic pool of TIAR in human cells and in DM2 patient-derived myoblasts. Together, these findings show that polyQAGR and polyLPAC exert distinct toxic effects that likely converge to drive DM2 pathogenesis and may represent promising therapeutic targets.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42003432"
+},
{
"id": "pmid:39643839",
"manubot_success": true,
@@ -2907,6 +3143,176 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9887340"
},
+{
+ "id": "pmid:40751262",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/40751262",
+ "title": "A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance.",
+ "type": "article-journal",
+ "doi": "10.1002/mds.30326",
+ "authors": [
+ ["Fulya", "Ak\u00e7imen"],
+ ["Pilar", "Alvarez Jerez"],
+ ["Ulviyya", "Guliyeva"],
+ ["Jasmine", "Lee"],
+ ["Laksh", "Malik"],
+ ["Breeana", "Baker"],
+ ["Kamran", "Salayev"],
+ ["Sughra", "Guliyeva"],
+ ["Kimberley J", "Billingsley"],
+ ["Henry", "Houlden"],
+ ["Andrew B", "Singleton"],
+ ["Cornelis", "Blauwendraat"],
+ ["Sara", "Bandres-Ciga"],
+ ["Rauan", "Kaiyrzhanov"]
+ ],
+ "publisher": "Movement disorders : official journal of the Movement Disorder Society",
+ "issn": "1531-8257",
+ "date": "2025-08-01",
+ "abstract": "Progressive myoclonic epilepsy is a heterogeneous neurodegenerative disorder characterized by early-onset myoclonus, epilepsy, generalized tonic-clonic seizures, and progressive neurological deterioration. Recently, a CGG repeat expansion and increased CSNK1E DNA methylation have been shown to be associated with developmental and epileptic encephalopathies.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40751262"
+},
+{
+ "id": "pmid:39107278",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39107278",
+ "title": "Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.",
+ "type": "article-journal",
+ "doi": "10.1038/s41467-024-50159-6",
+ "authors": [
+ ["Christy W", "LaFlamme"],
+ ["Cassandra", "Rastin"],
+ ["Soham", "Sengupta"],
+ ["Helen E", "Pennington"],
+ ["Sophie J", "Russ-Hall"],
+ ["Amy L", "Schneider"],
+ ["Emily S", "Bonkowski"],
+ ["Edith P", "Almanza Fuerte"],
+ ["Talia J", "Allan"],
+ ["Miranda Perez-Galey", "Zalusky"],
+ ["Joy", "Goffena"],
+ ["Sophia B", "Gibson"],
+ ["Denis M", "Nyaga"],
+ ["Nico", "Lieffering"],
+ ["Malavika", "Hebbar"],
+ ["Emily V", "Walker"],
+ ["Daniel", "Darnell"],
+ ["Scott R", "Olsen"],
+ ["Pandurang", "Kolekar"],
+ ["Mohamed Nadhir", "Djekidel"],
+ ["Wojciech", "Rosikiewicz"],
+ ["Haley", "McConkey"],
+ ["Jennifer", "Kerkhof"],
+ ["Michael A", "Levy"],
+ ["Raissa", "Relator"],
+ ["Dorit", "Lev"],
+ ["Tally", "Lerman-Sagie"],
+ ["Kristen L", "Park"],
+ ["Marielle", "Alders"],
+ ["Gerarda", "Cappuccio"],
+ ["Nicolas", "Chatron"],
+ ["Leigh", "Demain"],
+ ["David", "Genevieve"],
+ ["Gaetan", "Lesca"],
+ ["Tony", "Roscioli"],
+ ["Damien", "Sanlaville"],
+ ["Matthew L", "Tedder"],
+ ["Sachin", "Gupta"],
+ ["Elizabeth A", "Jones"],
+ ["Monika", "Weisz-Hubshman"],
+ ["Shamika", "Ketkar"],
+ ["Hongzheng", "Dai"],
+ ["Kim C", "Worley"],
+ ["Jill A", "Rosenfeld"],
+ ["Hsiao-Tuan", "Chao"],
+ ["Geoffrey", "Neale"],
+ ["Gemma L", "Carvill"],
+ ["Zhaoming", "Wang"],
+ ["Samuel F", "Berkovic"],
+ ["Lynette G", "Sadleir"],
+ ["Danny E", "Miller"],
+ ["Ingrid E", "Scheffer"],
+ ["Bekim", "Sadikovic"],
+ ["Heather C", "Mefford"]
+ ],
+ "publisher": "Nature communications",
+ "issn": "2041-1723",
+ "date": "2024-08-06",
+ "abstract": "Sequence-based genetic testing identifies causative variants in ~\u200950% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but remain unstudied in DEEs. We interrogate the diagnostic utility of genome-wide DNA methylation array analysis on peripheral blood samples from 582 individuals with genetically unsolved DEEs. We identify rare differentially methylated regions (DMRs) and explanatory episignatures to uncover causative and candidate genetic etiologies in 12 individuals. Using long-read sequencing, we identify DNA variants underlying rare DMRs, including one balanced translocation, three CG-rich repeat expansions, and four copy number variants. We also identify pathogenic variants associated with episignatures. Finally, we refine the CHD2 episignature using an 850\u2009K methylation array and bisulfite sequencing to investigate potential insights into CHD2 pathophysiology. Our study demonstrates the diagnostic yield of genome-wide DNA methylation analysis to identify causal and candidate variants as 2% (12/582) for unsolved DEE cases.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39107278"
+},
+{
+ "id": "pmid: 39107278",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39107278",
+ "title": "Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.",
+ "type": "article-journal",
+ "doi": "10.1038/s41467-024-50159-6",
+ "authors": [
+ ["Christy W", "LaFlamme"],
+ ["Cassandra", "Rastin"],
+ ["Soham", "Sengupta"],
+ ["Helen E", "Pennington"],
+ ["Sophie J", "Russ-Hall"],
+ ["Amy L", "Schneider"],
+ ["Emily S", "Bonkowski"],
+ ["Edith P", "Almanza Fuerte"],
+ ["Talia J", "Allan"],
+ ["Miranda Perez-Galey", "Zalusky"],
+ ["Joy", "Goffena"],
+ ["Sophia B", "Gibson"],
+ ["Denis M", "Nyaga"],
+ ["Nico", "Lieffering"],
+ ["Malavika", "Hebbar"],
+ ["Emily V", "Walker"],
+ ["Daniel", "Darnell"],
+ ["Scott R", "Olsen"],
+ ["Pandurang", "Kolekar"],
+ ["Mohamed Nadhir", "Djekidel"],
+ ["Wojciech", "Rosikiewicz"],
+ ["Haley", "McConkey"],
+ ["Jennifer", "Kerkhof"],
+ ["Michael A", "Levy"],
+ ["Raissa", "Relator"],
+ ["Dorit", "Lev"],
+ ["Tally", "Lerman-Sagie"],
+ ["Kristen L", "Park"],
+ ["Marielle", "Alders"],
+ ["Gerarda", "Cappuccio"],
+ ["Nicolas", "Chatron"],
+ ["Leigh", "Demain"],
+ ["David", "Genevieve"],
+ ["Gaetan", "Lesca"],
+ ["Tony", "Roscioli"],
+ ["Damien", "Sanlaville"],
+ ["Matthew L", "Tedder"],
+ ["Sachin", "Gupta"],
+ ["Elizabeth A", "Jones"],
+ ["Monika", "Weisz-Hubshman"],
+ ["Shamika", "Ketkar"],
+ ["Hongzheng", "Dai"],
+ ["Kim C", "Worley"],
+ ["Jill A", "Rosenfeld"],
+ ["Hsiao-Tuan", "Chao"],
+ ["Geoffrey", "Neale"],
+ ["Gemma L", "Carvill"],
+ ["Zhaoming", "Wang"],
+ ["Samuel F", "Berkovic"],
+ ["Lynette G", "Sadleir"],
+ ["Danny E", "Miller"],
+ ["Ingrid E", "Scheffer"],
+ ["Bekim", "Sadikovic"],
+ ["Heather C", "Mefford"]
+ ],
+ "publisher": "Nature communications",
+ "issn": "2041-1723",
+ "date": "2024-08-06",
+ "abstract": "Sequence-based genetic testing identifies causative variants in ~\u200950% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but remain unstudied in DEEs. We interrogate the diagnostic utility of genome-wide DNA methylation array analysis on peripheral blood samples from 582 individuals with genetically unsolved DEEs. We identify rare differentially methylated regions (DMRs) and explanatory episignatures to uncover causative and candidate genetic etiologies in 12 individuals. Using long-read sequencing, we identify DNA variants underlying rare DMRs, including one balanced translocation, three CG-rich repeat expansions, and four copy number variants. We also identify pathogenic variants associated with episignatures. Finally, we refine the CHD2 episignature using an 850\u2009K methylation array and bisulfite sequencing to investigate potential insights into CHD2 pathophysiology. Our study demonstrates the diagnostic yield of genome-wide DNA methylation analysis to identify causal and candidate variants as 2% (12/582) for unsolved DEE cases.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed: 39107278"
+},
{
"id": "pmid:18325013",
"manubot_success": true,
@@ -3049,6 +3455,47 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:4042396"
},
+{
+ "id": "pmid:37248219",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/37248219",
+ "title": "Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.",
+ "type": "article-journal",
+ "doi": "10.1038/s41467-023-38782-1",
+ "authors": [
+ ["Warren A", "Cheung"],
+ ["Adam F", "Johnson"],
+ ["William J", "Rowell"],
+ ["Emily", "Farrow"],
+ ["Richard", "Hall"],
+ ["Ana S A", "Cohen"],
+ ["John C", "Means"],
+ ["Tricia N", "Zion"],
+ ["Daniel M", "Portik"],
+ ["Christopher T", "Saunders"],
+ ["Boryana", "Koseva"],
+ ["Chengpeng", "Bi"],
+ ["Tina K", "Truong"],
+ ["Carl", "Schwendinger-Schreck"],
+ ["Byunggil", "Yoo"],
+ ["Jeffrey J", "Johnston"],
+ ["Margaret", "Gibson"],
+ ["Gilad", "Evrony"],
+ ["William B", "Rizzo"],
+ ["Isabelle", "Thiffault"],
+ ["Scott T", "Younger"],
+ ["Tom", "Curran"],
+ ["Aaron M", "Wenger"],
+ ["Elin", "Grundberg"],
+ ["Tomi", "Pastinen"]
+ ],
+ "publisher": "Nature communications",
+ "issn": "2041-1723",
+ "date": "2023-05-29",
+ "abstract": "Long-read HiFi genome sequencing allows for accurate detection and direct phasing of single nucleotide variants, indels, and structural variants. Recent algorithmic development enables simultaneous detection of CpG methylation for analysis of regulatory element activity directly in HiFi reads. We present a comprehensive haplotype resolved 5-base HiFi genome sequencing dataset from a rare disease cohort of 276 samples in 152 families to identify rare (~0.5%) hypermethylation events. We find that 80% of these events are allele-specific and predicted to cause loss of regulatory element activity. We demonstrate heritability of extreme hypermethylation including rare cis variants associated with short (~200\u2009bp) and large hypermethylation events (>1\u2009kb), respectively. We identify repeat expansions in proximal promoters predicting allelic gene silencing via hypermethylation and demonstrate allelic transcriptional events downstream. On average 30-40 rare hypermethylation tiles overlap rare disease genes per patient, providing indications for variation prioritization including a previously undiagnosed pathogenic allele in DIP2B causing global developmental delay. We propose that use of HiFi genome sequencing in unsolved rare disease cases will allow detection of unconventional diseases alleles due to loss of regulatory element activity.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37248219"
+},
{
"id": "pmid:17236128",
"manubot_success": true,
@@ -3102,6 +3549,84 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39854091"
},
+{
+ "id": "pmid:34622207",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34622207",
+ "title": "Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome.",
+ "type": "article-journal",
+ "doi": "10.1093/braincomms/fcab207",
+ "authors": [
+ ["Farah", "Qaiser"],
+ ["Tara", "Sadoway"],
+ ["Yue", "Yin"],
+ ["Quratulain", "Zulfiqar Ali"],
+ ["Charlotte M", "Nguyen"],
+ ["Natalie", "Shum"],
+ ["Ian", "Backstrom"],
+ ["Paula T", "Marques"],
+ ["Sepideh", "Tabarestani"],
+ ["Renato P", "Munhoz"],
+ ["Timo", "Krings"],
+ ["Christopher E", "Pearson"],
+ ["Ryan K C", "Yuen"],
+ ["Danielle M", "Andrade"]
+ ],
+ "publisher": "Brain communications",
+ "issn": "2632-1297",
+ "date": "2021-09-14",
+ "abstract": "Epilepsies are a group of common neurological disorders with a substantial genetic basis. Despite this, the molecular diagnosis of epilepsies remains challenging due to its heterogeneity. Studies utilizing whole-genome sequencing may provide additional insights into genetic causes of epilepsies of unknown aetiology. Whole-genome sequencing was used to evaluate a cohort of adults with unexplained developmental and epileptic encephalopathies (",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34622207"
+},
+{
+ "id": "pmid:38418263",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/38418263",
+ "title": "Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy.",
+ "type": "article-journal",
+ "doi": "10.1016/j.ebiom.2024.105027",
+ "authors": [
+ ["Aleksandra", "Mitina"],
+ ["Mahreen", "Khan"],
+ ["Robert", "Lesurf"],
+ ["Yue", "Yin"],
+ ["Worrawat", "Engchuan"],
+ ["Omar", "Hamdan"],
+ ["Giovanna", "Pellecchia"],
+ ["Brett", "Trost"],
+ ["Ian", "Backstrom"],
+ ["Keyi", "Guo"],
+ ["Linda M", "Pallotto"],
+ ["Phoenix Hoi", "Lam Doong"],
+ ["Zhuozhi", "Wang"],
+ ["Thomas", "Nalpathamkalam"],
+ ["Bhooma", "Thiruvahindrapuram"],
+ ["Tanya", "Papaz"],
+ ["Christopher E", "Pearson"],
+ ["Jiannis", "Ragoussis"],
+ ["Padmaja", "Subbarao"],
+ ["Meghan B", "Azad"],
+ ["Stuart E", "Turvey"],
+ ["Piushkumar", "Mandhane"],
+ ["Theo J", "Moraes"],
+ ["Elinor", "Simons"],
+ ["Stephen W", "Scherer"],
+ ["Jane", "Lougheed"],
+ ["Tapas", "Mondal"],
+ ["John", "Smythe"],
+ ["Luis", "Altamirano-Diaz"],
+ ["Erwin", "Oechslin"],
+ ["Seema", "Mital"],
+ ["Ryan K C", "Yuen"]
+ ],
+ "publisher": "EBioMedicine",
+ "issn": "2352-3964",
+ "date": "2024-02-27",
+ "abstract": "Cardiomyopathy is a clinically and genetically heterogeneous heart condition that can lead to heart failure and sudden cardiac death in childhood. While it has a strong genetic basis, the genetic aetiology for over 50% of cardiomyopathy cases remains unknown.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38418263"
+},
{
"id": "pmid:27417533",
"manubot_success": true,
@@ -3260,6 +3785,32 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40259070"
},
+{
+ "id": "pmid:41929128",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41929128",
+ "title": "Muscleblind-like proteins dimerize by forming disulfide bonds to regulate alternative splicing and pathogenic RNA foci formation.",
+ "type": "article-journal",
+ "doi": "10.64898/2026.03.24.714019",
+ "authors": [
+ ["Luke A", "Knudson"],
+ ["Adam", "Kosti"],
+ ["Kathryn R", "Moss"],
+ ["Liang", "Shi"],
+ ["GiaLinh N", "Nguyen"],
+ ["Aleksandra", "Janusz-Kaminska"],
+ ["Eric X", "Zhou"],
+ ["Ryan P", "Hildebrandt"],
+ ["Eric T", "Wang"],
+ ["Gary J", "Bassell"]
+ ],
+ "publisher": "bioRxiv : the preprint server for biology",
+ "issn": "2692-8205",
+ "date": "2026-03-26",
+ "abstract": "Muscleblind-like (MBNL) RNA-binding proteins (RBPs) possess modular domains that mediate regulation of alternative splicing and RNA localization. Myotonic Dystrophy Type 1 is a CTG repeat expansion disorder where MBNL is sequestered into intranuclear RNA foci, impairing its function. Previous studies found that MBNL self-associates through its exon 7, but the nature of this interaction is not well understood. We identified a cysteine in MBNL1 exon 7 that enables dimerization through formation of an intermolecular disulfide bond. We likewise demonstrate that MBNL2 dimerizes by forming disulfide bonds between multiple cysteines in its carboxy-terminus. Nucleocytoplasmic fractionation revealed a greater proportion of MBNL1 dimer in the nucleus, suggesting a nuclear function for the MBNL1 dimer. We investigated a connection between MBNL1 dimerization and MBNL1-mediated regulation of alternative splicing. To accomplish this, we mutated the MBNL1 cysteine in question to alanine (C325A) and performed RNAseq. We uncovered novel splicing events sensitive to MBNL1 dimerization. We also found that MBNL1 C325A, when co-expressed with expanded CTG repeats, produces smaller, more numerous foci, suggesting a role for the MBNL1 dimer in maintaining foci integrity. These results provide insight into biological and pathological mechanisms of MBNL1 dimerization and suggest other RBPs might similarly dimerize to regulate function.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41929128"
+},
{
"id": "pmid:32851192",
"manubot_success": true,
@@ -3523,6 +4074,126 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:1632438"
},
+{
+ "id": "pmid:39868092",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39868092",
+ "title": "Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity.",
+ "type": "article-journal",
+ "doi": "10.1101/2025.01.06.631535",
+ "authors": [
+ ["Matt C", "Danzi"],
+ ["Isaac R L", "Xu"],
+ ["Sarah", "Fazal"],
+ ["Egor", "Dolzhenko"],
+ ["David", "Pellerin"],
+ ["Ben", "Weisburd"],
+ ["Chloe", "Reuter"],
+ ["Jacinda", "Sampson"],
+ ["Chiara", "Folland"],
+ ["Matthew", "Wheeler"],
+ ["Anne", "O'Donnell-Luria"],
+ ["Stefan", "Wuchty"],
+ ["Gianina", "Ravenscroft"],
+ ["Michael A", "Eberle"],
+ ["Stephan", "Zuchner"]
+ ],
+ "publisher": "bioRxiv : the preprint server for biology",
+ "issn": "2692-8205",
+ "date": "2025-01-20",
+ "abstract": "Tandem repeats are a highly polymorphic class of genomic variation that play causal roles in rare diseases but are notoriously difficult to sequence using short-read techniques",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39868092"
+},
+{
+ "id": "pmid:38585781",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/38585781",
+ "title": "Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.",
+ "type": "article-journal",
+ "doi": "10.1101/2024.03.22.24304565",
+ "authors": [
+ ["Tanner D", "Jensen"],
+ ["Bohan", "Ni"],
+ ["Chloe M", "Reuter"],
+ ["John E", "Gorzynski"],
+ ["Sarah", "Fazal"],
+ ["Devon", "Bonner"],
+ ["Rachel A", "Ungar"],
+ ["Pag\u00e9 C", "Goddard"],
+ ["Archana", "Raja"],
+ ["Euan A", "Ashley"],
+ ["Jonathan A", "Bernstein"],
+ ["Stephan", "Zuchner"],
+ ["Michael D", "Greicius"],
+ ["Stephen B", "Montgomery"],
+ ["Michael C", "Schatz"],
+ ["Matthew T", "Wheeler"],
+ ["Alexis", "Battle"]
+ ],
+ "publisher": "medRxiv : the preprint server for health sciences",
+ "issn": "",
+ "date": "2024-03-26",
+ "abstract": "Rare structural variants (SVs) - insertions, deletions, and complex rearrangements - can cause Mendelian disease, yet they remain difficult to accurately detect and interpret. We sequenced and analyzed Oxford Nanopore long-read genomes of 68 individuals from the Undiagnosed Disease Network (UDN) with no previously identified diagnostic mutations from short-read sequencing. Using our optimized SV detection pipelines and 571 control long-read genomes, we detected 716 long-read rare (MAF < 0.01) SV alleles per genome on average, achieving a 2.4x increase from short-reads. To characterize the functional effects of rare SVs, we assessed their relationship with gene expression from blood or fibroblasts from the same individuals, and found that rare SVs overlapping enhancers were enriched (LOR = 0.46) near expression outliers. We also evaluated tandem repeat expansions (TREs) and found 14 rare TREs per genome; notably these TREs were also enriched near overexpression outliers. To prioritize candidate functional SVs, we developed Watershed-SV, a probabilistic model that integrates expression data with SV-specific genomic annotations, which significantly outperforms baseline models that don't incorporate expression data. Watershed-SV identified a median of eight high-confidence functional SVs per UDN genome. Notably, this included compound heterozygous deletions in",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38585781"
+},
+{
+ "id": "pmid:38297326",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/38297326",
+ "title": "RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci.",
+ "type": "article-journal",
+ "doi": "10.1186/s13059-024-03171-4",
+ "authors": [
+ ["Sarah", "Fazal"],
+ ["Matt C", "Danzi"],
+ ["Isaac", "Xu"],
+ ["Shilpa Nadimpalli", "Kobren"],
+ ["Shamil", "Sunyaev"],
+ ["Chloe", "Reuter"],
+ ["Shruti", "Marwaha"],
+ ["Matthew", "Wheeler"],
+ ["Egor", "Dolzhenko"],
+ ["Francesca", "Lucas"],
+ ["Stefan", "Wuchty"],
+ ["Mustafa", "Tekin"],
+ ["Stephan", "Z\u00fcchner"],
+ ["Vanessa", "Aguiar-Pulido"]
+ ],
+ "publisher": "Genome biology",
+ "issn": "1474-760X",
+ "date": "2024-01-31",
+ "abstract": "Expansions of tandem repeats (TRs) cause approximately 60 monogenic diseases. We expect that the discovery of additional pathogenic repeat expansions will narrow the diagnostic gap in many diseases. A growing number of TR expansions are being identified, and interpreting them is a challenge. We present RExPRT (Repeat EXpansion Pathogenicity pRediction Tool), a machine learning tool for distinguishing pathogenic from benign TR expansions. Our results demonstrate that an ensemble approach classifies TRs with an average precision of 93% and recall of 83%. RExPRT's high precision will be valuable in large-scale discovery studies, which require prioritization of candidate loci for follow-up studies.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38297326"
+},
+{
+ "id": "pmid:40357124",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/40357124",
+ "title": "Long-read sequencing for diagnosis of genetic myopathies.",
+ "type": "article-journal",
+ "doi": "10.1136/bmjno-2024-000990",
+ "authors": [
+ ["Dennis", "Yeow"],
+ ["Laura Ivete", "Rudaks"],
+ ["Ryan", "Davis"],
+ ["Karl", "Ng"],
+ ["Roula", "Ghaoui"],
+ ["Pak Leng", "Cheong"],
+ ["Gianina", "Ravenscroft"],
+ ["Marina", "Kennerson"],
+ ["Ira", "Deveson"],
+ ["Kishore Raj", "Kumar"]
+ ],
+ "publisher": "BMJ neurology open",
+ "issn": "2632-6140",
+ "date": "2025-05-11",
+ "abstract": "Genetic myopathies are caused by pathogenic variants in >300 genes across the nuclear and mitochondrial genomes. Although short-read next-generation sequencing (NGS) has revolutionised the diagnosis of genetic disorders, large and/or complex genetic variants, which are over-represented in the genetic myopathies, are not well characterised using this approach. Long-read sequencing (LRS) is a newer genetic testing technology that overcomes many of the limitations of NGS. In particular, LRS provides improved detection of challenging variant types, including short tandem repeat (STR) expansions, copy number variants and structural variants, as well as improved variant phasing and concurrent assessment of epigenetic changes, including DNA methylation. The ability to concurrently detect multiple STR expansions is particularly relevant given the growing number of recently described genetic myopathies associated with STR expansions. LRS will also aid in the identification of new myopathy genes and molecular mechanisms. However, use of LRS technology is currently limited by high cost, low accessibility, the need for specialised DNA extraction procedures, limited availability of LRS bioinformatic tools and pipelines, and the relative lack of healthy control LRS variant databases. Once these barriers are addressed, the implementation of LRS into clinical diagnostic pipelines will undoubtedly streamline the diagnostic algorithm and increase the diagnostic rate for genetic myopathies. In this review, we discuss the utility and critical impact of LRS in this field.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40357124"
+},
{
"id": "pmid:39263992",
"manubot_success": true,
@@ -3906,7 +4577,7 @@
["Hirotaka", "Iwaki"],
["Sara", "Bandres-Ciga"],
["Paula", "Saffie-Awad"],
- ["Mike", "Nalls"],
+ ["Mike A", "Nalls"],
["Zih-Hua", "Fang"],
["Andrew B", "Singleton"],
["Cornelis", "Blauwendraat"],
@@ -3914,8 +4585,8 @@
],
"publisher": "Brain : a journal of neurology",
"issn": "1460-2156",
- "date": "2025-12-02",
- "abstract": "Pathogenic GAA repeat expansions in FGF14 are an established cause of late-onset cerebellar ataxia, but have not been linked to Parkinson's disease (PD). Given emerging evidence that repeat expansions in ataxia-associated genes like RFC1, can contribute to atypical or familial forms of PD, we investigated whether FGF14 expansions might play a similar role. Using long-read whole-genome sequencing, we analyzed 411 individuals with PD and 197 neurologically healthy controls from the PPMI cohort, together with 1,429 additional controls from the NIH CARD initiative, the 1000 Genomes Project, and the All of Us program, representing globally diverse populations. We identified pathogenic FGF14 GAA repeat expansions in five individuals with PD and one control. All five individuals fit the clinical criteria of PD and showed typical patterns of neurodegeneration on DaTSCAN imaging; \u03b1-synuclein aggregation was confirmed by a positive seeding assay among four individuals with available data. These findings broaden the phenotypic spectrum of FGF14 repeat-associated disease and suggest a rare, previously unrecognized genetic contributor to PD. To our knowledge, this is the first report implicating FGF14 in PD and underscores the utility of long-read sequencing for detecting hidden forms of pathogenic variation in unresolved cases.",
+ "date": "2026-05-05",
+ "abstract": "Pathogenic GAA repeat expansions in FGF14 are an established cause of late-onset cerebellar ataxia, but have not been linked to Parkinson's disease. Given emerging evidence that repeat expansions in ataxia-associated genes like RFC1 can contribute to atypical or familial forms of Parkinson's disease, we investigated whether FGF14 expansions might play a similar role. Using long-read whole-genome sequencing, we analysed 411 individuals with Parkinson's disease and 197 neurologically healthy controls from the Parkinson's Progression Markers Initiative (PPMI) cohort, together with 1429 additional controls from the National Institutes of Health (NIH) Center for Alzheimer's Disease and Related Dementias (CARD) initiative, the 1000 Genomes Project, and the All of Us program, representing globally diverse populations. We identified pathogenic FGF14 GAA repeat expansions in five individuals with Parkinson's disease and one control subject. All five individuals fit the clinical criteria of Parkinson's disease and showed typical patterns of neurodegeneration on DaTSCAN imaging; \u03b1-synuclein aggregation was confirmed by a positive seeding assay among four individuals with available data. These findings broaden the phenotypic spectrum of FGF14 repeat-associated disease and suggest a rare, previously unrecognized genetic contributor to Parkinson's disease. To our knowledge, this is the first report implicating FGF14 in Parkinson's disease and underscores the utility of long-read sequencing for detecting hidden forms of pathogenic variation in unresolved cases.",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41327893"
},
@@ -4124,6 +4795,32 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36493768"
},
+{
+ "id": "pmid:42044943",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42044943",
+ "title": "Long-term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the FGF14 GAA expansion.",
+ "type": "article-journal",
+ "doi": "10.1016/j.nrleng.2026.501924",
+ "authors": [
+ ["E", "Mu\u00f1oz"],
+ ["M", "De la Cruz-Puebla"],
+ ["D", "Pellerin"],
+ ["C", "Painous"],
+ ["M I", "\u00c1lvarez-Mora"],
+ ["M J", "Dicaire"],
+ ["L", "Rodr\u00edguez-Revenga"],
+ ["M C", "Danzi"],
+ ["S", "Zuchner"],
+ ["B", "Brais"]
+ ],
+ "publisher": "Neurologia",
+ "issn": "2173-5808",
+ "date": "2026-05-01",
+ "abstract": "Ataxia with downbeat nystagmus (A-DBN) has recently been associated with an intronic GAA repeat expansion in the FGF14 gene. The objectives of our study were to describe the clinical, radiological, and genetic findings, as well as the long-term response to aminopyridine (AP) treatment, in a cohort of patients with ataxia with DBN.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42044943"
+},
{
"id": "pmid:17427188",
"manubot_success": true,
@@ -4274,6 +4971,30 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7987398"
},
+{
+ "id": "pmid:42001465",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42001465",
+ "title": "Large-scale analysis of FMR1 CGG repeat length and risk of premature ovarian insufficiency in over 92\u2009000 women.",
+ "type": "article-journal",
+ "doi": "10.1093/humrep/deag061",
+ "authors": [
+ ["Emily J", "Morbey"],
+ ["Felix R", "Day"],
+ ["Daniel J", "Wright"],
+ ["Jack R A", "Murzynowski"],
+ ["Sinead M", "McGlacken-Byrne"],
+ ["Anna", "Murray"],
+ ["Ken K", "Ong"],
+ ["John R B", "Perry"]
+ ],
+ "publisher": "Human reproduction (Oxford, England)",
+ "issn": "1460-2350",
+ "date": "2026-04-19",
+ "abstract": "Does FMR1 repeat length confer clinically meaningful predictive value for premature ovarian insufficiency (POI)?",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42001465"
+},
{
"id": "pmid:24700618",
"manubot_success": true,
@@ -4570,6 +5291,32 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32413282"
},
+{
+ "id": "pmid:41975469",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41975469",
+ "title": "CGG Repeat Expansion in GIPC1 is Associated with Childhood-Onset Hereditary Ataxia.",
+ "type": "article-journal",
+ "doi": "10.1002/mds.70305",
+ "authors": [
+ ["Ying", "Wu"],
+ ["Taoyun", "Ji"],
+ ["Quanzhen", "Tan"],
+ ["Xingzhi", "Chang"],
+ ["Shirang", "Pan"],
+ ["Jing", "An"],
+ ["Enrui", "Chen"],
+ ["Yuwu", "Jiang"],
+ ["Jianwen", "Deng"],
+ ["Cuijie", "Wei"]
+ ],
+ "publisher": "Movement disorders : official journal of the Movement Disorder Society",
+ "issn": "1531-8257",
+ "date": "2026-04-13",
+ "abstract": "Hereditary ataxias are genetically heterogeneous; however, despite major advances in next-generation sequencing technologies, 20%-54% of childhood-onset cases remain genetically undiagnosed.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41975469"
+},
{
"id": "pmid:33374016",
"manubot_success": true,
@@ -4638,8 +5385,8 @@
],
"publisher": "Brain : a journal of neurology",
"issn": "1460-2156",
- "date": "2025-10-22",
- "abstract": "GGC repeat expansions in the 5' untranslated region (UTR) of the GIPC1 gene have been implicated in the pathogenesis of oculopharyngodistal myopathy type 2 (OPDM2).To investigate the underlying mechanism, we generated a series of reporter constructs to confirm he translation product of GIPC1 expanded GGC repeats. We further developed a specific antibody targeting the predicted N-terminus of the predominant translation product. Its expression and toxicity were validated in patient-derived induced pluripotent stem cell (iPSC)-derived myotubes and zebrafish model. Here, we demonstrate that the expanded GGC repeats undergo repeat-associated non-AUG (RAN) translation in multiple reading frames, predominantly generating a polyglycine-containing protein (uGIPC1polyG) initiated at an upstream CTG codon. These polyG-containing proteins aggregate and form intranuclear and cytoplasmic p62/ubiquitin-positive inclusions, which are pathogenic hallmarks of OPDM2. The translation of GGC repeats into a polyG protein further causes mitochondrial dysfunction and disrupts nuclear lamina architecture, thereby inducing cytotoxicity and apoptosis in cell lines, including HEK293T cells, fibroblasts, and iPSC-derived myotubes from OPDM2 patients. Additionally, the zebrafish model exhibits developmental malformation and compromised locomotor function, demonstrating the in vivo toxicity of uGIPC1polyG. These findings suggest that the translation of expanded GGC repeats into a toxic polyG protein might play a crucial role in the pathogenesis of OPDM2, highlighting uGIPC1polyG as a potential biomarker and therapeutic target.",
+ "date": "2026-05-05",
+ "abstract": "GGC repeat expansions in the 5' untranslated region of the GIPC1 gene have been implicated in the pathogenesis of oculopharyngodistal myopathy type 2 (OPDM2). To investigate the underlying mechanism, we generated a series of reporter constructs to confirm the translation product of GIPC1 expanded GGC repeats. We also developed a specific antibody targeting the predicted N-terminus of the predominant translation product. Its expression and toxicity were validated in patient-derived induced pluripotent stem cell-derived myotubes and a zebrafish model. Here, we demonstrate that the expanded GGC repeats undergo repeat-associated non-AUG (RAN) translation in multiple reading frames, predominantly generating a polyglycine-containing protein (uGIPC1polyG) initiated at an upstream CTG codon. These polyG-containing proteins aggregate and form intranuclear and cytoplasmic p62/ubiquitin-positive inclusions, which are pathogenic hallmarks of OPDM2. The translation of GGC repeats into a polyG protein also causes mitochondrial dysfunction and disrupts nuclear lamina architecture, thereby inducing cytotoxicity and apoptosis in cell lines, including HEK293T cells, fibroblasts and induced pluripotent stem cell-derived myotubes from OPDM2 patients. Additionally, the zebrafish model exhibits developmental malformation and compromised locomotor function, demonstrating the in vivo toxicity of uGIPC1polyG. These findings suggest that the translation of expanded GGC repeats into a toxic polyG protein might play a crucial role in the pathogenesis of OPDM2, highlighting uGIPC1polyG as a potential biomarker and therapeutic target.",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41121761"
},
@@ -4738,6 +5485,145 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35913761"
},
+{
+ "id": "pmid:41820575",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41820575",
+ "title": "A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions.",
+ "type": "article-journal",
+ "doi": "10.1038/s41588-026-02537-7",
+ "authors": [
+ ["Wouter", "De Coster"],
+ ["Marleen", "Van den Broeck"],
+ ["Matt", "Baker"],
+ ["Nikhil B", "Ghayal"],
+ ["Sarah", "Wynants"],
+ ["Anthony", "Batzler"],
+ ["Cyril", "Pottier"],
+ ["Sara", "Alidadiani"],
+ ["Fahri", "K\u00fc\u00e7\u00fckali"],
+ ["Gregory D", "Jenkins"],
+ ["Rafaela", "Policarpo"],
+ ["Marka", "van Blitterswijk"],
+ ["Mariely", "DeJesus-Hernandez"],
+ ["Alexandra I", "Soto-Beasley"],
+ ["J\u00falia", "Faura"],
+ ["Elise", "Coopman"],
+ ["Saskia", "Hutten"],
+ ["Merel O", "Mol"],
+ ["David", "Wallon"],
+ ["Anne", "Sieben"],
+ ["Elizabeth C", "Finger"],
+ ["Melissa E", "Murray"],
+ ["Shelley L", "Forrest"],
+ ["Maria C", "Tartaglia"],
+ ["Claire", "Troakes"],
+ ["Jeroen G J", "van Rooij"],
+ ["Aivi T", "Nguyen"],
+ ["R Ross", "Reichard"],
+ ["Natalie L", "Woodman"],
+ ["Alissa L", "Nana"],
+ ["Sandra", "Weintraub"],
+ ["Tamar", "Gefen"],
+ ["Bart", "De Vil"],
+ ["Istvan", "Bodi"],
+ ["Oscar L", "Lopez"],
+ ["Susana", "Boluda"],
+ ["Serge", "Belliard"],
+ ["Florence", "Lebert"],
+ ["Florent", "Marguet"],
+ ["Qinwen", "Mao"],
+ ["Marsel M", "Mesulam"],
+ ["Adam L", "Boxer"],
+ ["Mathieu", "Vandenbulcke"],
+ ["EunRan", "Suh"],
+ ["Jolien", "Schaeverbeke"],
+ ["Jean-Charles", "Lambert"],
+ ["Sonja W", "Scholz"],
+ ["Clifton L", "Dalgard"],
+ ["Bryan J", "Traynor"],
+ ["Raphael J", "Gibbs"],
+ ["Gerard D", "Schellenberg"],
+ ["Dorothee", "Dormann"],
+ ["Geert", "Joris"],
+ ["Tim", "De Pooter"],
+ ["Peter", "De Rijk"],
+ ["Svenn", "D'Hert"],
+ ["Jasper", "Van Dongen"],
+ ["Julie", "van der Zee"],
+ ["Mojca", "Strazisar"],
+ ["Marla", "Gearing"],
+ ["Thomas", "Kukar"],
+ ["Margaret", "Flanagan"],
+ ["Sebastiaan", "Engelborghs"],
+ ["Bernardino", "Ghetti"],
+ ["Kathy L", "Newell"],
+ ["Andrew", "King"],
+ ["Sigrun", "Roeber"],
+ ["Howard J", "Rosen"],
+ ["Salvatore", "Spina"],
+ ["Patrick", "Cras"],
+ ["Nil\u00fcfer", "Ertekin-Taner"],
+ ["Zbigniew K", "Wszolek"],
+ ["Ryan J", "Uitti"],
+ ["William P", "Cheshire"],
+ ["Wolfgang", "Singer"],
+ ["Jochen", "Herms"],
+ ["Keith A", "Josephs"],
+ ["Jennifer L", "Whitwell"],
+ ["Ronald C", "Petersen"],
+ ["Florence", "Pasquier"],
+ ["Ga\u00ebl", "Nicolas"],
+ ["Rudolph", "Castellani"],
+ ["Jonathan", "Glass"],
+ ["Bruce L", "Miller"],
+ ["Gabor G", "Kovacs"],
+ ["Robert A", "Rissman"],
+ ["Annie", "Hiniker"],
+ ["Vincent", "Deramecourt"],
+ ["Lee-Cyn", "Ang"],
+ ["Jin", "Lee-Way"],
+ ["Vivianna M", "Van Deerlin"],
+ ["Brittany N", "Dugger"],
+ ["Dietmar R", "Thal"],
+ ["Lea T", "Grinberg"],
+ ["Carlos", "Cruchaga"],
+ ["Thomas", "Arzberger"],
+ ["David G", "Munoz"],
+ ["Julia", "Keith"],
+ ["Lorne", "Zinman"],
+ ["Ekaterina", "Rogaeva"],
+ ["Edward B", "Lee"],
+ ["Stephen J", "Haggarty"],
+ ["Olaf", "Ansorge"],
+ ["Masud", "Husain"],
+ ["Glenda M", "Halliday"],
+ ["Safa", "Al-Sarraj"],
+ ["Owen A", "Ross"],
+ ["Kristel", "Sleegers"],
+ ["Rik", "Vandenberghe"],
+ ["Bradley F", "Boeve"],
+ ["Neill R", "Graff-Radford"],
+ ["Julia", "Kofler"],
+ ["Charles L", "White"],
+ ["Tammaryn", "Lashley"],
+ ["Manuela", "Neumann"],
+ ["Joanna M", "Biernacka"],
+ ["William W", "Seeley"],
+ ["Harro", "Seelaar"],
+ ["John C", "van Swieten"],
+ ["Jonathan D", "Rohrer"],
+ ["Dennis W", "Dickson"],
+ ["Ian R A", "Mackenzie"],
+ ["Rosa", "Rademakers"]
+ ],
+ "publisher": "Nature genetics",
+ "issn": "1546-1718",
+ "date": "2026-03-12",
+ "abstract": "Atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions (aFTLD-U) is neuropathologically characterized by aggregation of the FET family of proteins and clinically manifests as sporadic young-onset frontotemporal dementia. Here we describe a major risk locus on chr15q14 identified through a genome-wide association study in 59 pathologically confirmed aFTLD-U cases and 3,153 controls (lead single nucleotide polymorphism rs549846383, P\u2009=\u20095.85\u2009\u00d7\u200910",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41820575"
+},
{
"id": "pmid:15385446",
"manubot_success": true,
@@ -4962,6 +5848,32 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27940602"
},
+{
+ "id": "pmid:41959367",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41959367",
+ "title": "Scn4b Modulates Huntington's Disease Phenotype Severity in vivo.",
+ "type": "article-journal",
+ "doi": "10.64898/2026.03.08.708251",
+ "authors": [
+ ["Suphinya", "Sathitloetsakun"],
+ ["Vanessa", "Farrell"],
+ ["S Sebastian", "Pineda"],
+ ["Hyeseung", "Lee"],
+ ["Jung Hoon", "Shin"],
+ ["Francisco J", "Garcia"],
+ ["Raleigh M", "Linville"],
+ ["Manolis", "Kellis"],
+ ["Veronica A", "Alvarez"],
+ ["Myriam", "Heiman"]
+ ],
+ "publisher": "bioRxiv : the preprint server for biology",
+ "issn": "2692-8205",
+ "date": "2026-03-10",
+ "abstract": "Although it has been known for over 30 years that CAG trinucleotide repeat expansions in the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41959367"
+},
{
"id": "pmid:39572770",
"manubot_success": true,
@@ -5036,6 +5948,68 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19507258"
},
+{
+ "id": "pmid:41926793",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41926793",
+ "title": "Extensive transcriptomic changes in cellular and animal models of Huntington's disease depending on the length of CAG repeats in the exon 1 of the HTT gene.",
+ "type": "article-journal",
+ "doi": "10.1016/j.bbrc.2026.153711",
+ "authors": [
+ ["Aneta", "Szulc"],
+ ["Beata M", "Walter"],
+ ["Lidia", "Gaffke"],
+ ["Karolina", "Wi\u015bniewska"],
+ ["Magdalena", "\u017babi\u0144ska"],
+ ["Estera", "Rintz"],
+ ["Zuzanna", "Cyske"],
+ ["Micha\u0142", "Grabski"],
+ ["Oleksandr", "Pankiv"],
+ ["Magdalena", "Podlacha"],
+ ["Karolina", "Pierzynowska"],
+ ["Grzegorz", "W\u0119grzyn"]
+ ],
+ "publisher": "Biochemical and biophysical research communications",
+ "issn": "1090-2104",
+ "date": "2026-04-01",
+ "abstract": "Although Huntington's disease - a severe, inherited, neurodegenerative disorder - is primarily caused by a pathological variant of the HTT gene (encoding huntingtin protein) which is characterized by the extension of CAG repeats in the 1st exon exceeding 36 triplets, the biochemical mechanisms underlying the disease remain poorly understood. Mutant huntingtin forms toxic aggregates in cells; however, the clinical symptoms usually appear in adulthood. Recent reports suggested that somatic expansion of CAG repeats to more than 150 copies may be responsible for the pathogenicity and could explain the delayed onset of symptoms in this inherited disease. Nevertheless, it remains unclear why such an expansion occurs only in cells bearing HTT alleles with the original number of CAG repeats over 36. Here, we used cellular models of Huntington disease, consisting of human HEK293\u202fcell lines with either normal (16/17) or pathogenic (41, 53, 84) numbers of CAG repeats in exon 1 of HTT, as well as the R6/1 mouse model. Using AlphaFold3, protein structures were predicted for the human huntingtin variants, revealing significant changes in pathogenic forms compared to the normal form. Transcriptomic analyses indicated that expression of a few thousand genes is significantly dysregulated in cells with increased CAG repeat numbers. Products of these genes are involved in various processes, such as apoptosis, autophagy, and DNA repair and recombination. Thus, we suggest that stress conditions, caused by dysregulation of cellular processes, might facilitate abnormal somatic expansion of CAG repeats, contrary to cells bearing normal HTT alleles.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41926793"
+},
+{
+ "id": "pmid:39824182",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39824182",
+ "title": "Long somatic DNA-repeat expansion drives neurodegeneration in Huntington's disease.",
+ "type": "article-journal",
+ "doi": "10.1016/j.cell.2024.11.038",
+ "authors": [
+ ["Robert E", "Handsaker"],
+ ["Seva", "Kashin"],
+ ["Nora M", "Reed"],
+ ["Steven", "Tan"],
+ ["Won-Seok", "Lee"],
+ ["Tara M", "McDonald"],
+ ["Kiely", "Morris"],
+ ["Nolan", "Kamitaki"],
+ ["Christopher D", "Mullally"],
+ ["Neda R", "Morakabati"],
+ ["Melissa", "Goldman"],
+ ["Gabriel", "Lind"],
+ ["Rhea", "Kohli"],
+ ["Elisabeth", "Lawton"],
+ ["Marina", "Hogan"],
+ ["Kiku", "Ichihara"],
+ ["Sabina", "Berretta"],
+ ["Steven A", "McCarroll"]
+ ],
+ "publisher": "Cell",
+ "issn": "1097-4172",
+ "date": "2025-01-16",
+ "abstract": "In Huntington's disease (HD), striatal projection neurons (SPNs) degenerate during midlife; the core biological question involves how the disease-causing DNA repeat (CAG)",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39824182"
+},
{
"id": "pmid:8458085",
"manubot_success": true,
@@ -5869,6 +6843,12 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34179866"
},
+{
+ "id": "pmid:25101480",
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/25101480",
+ "note": "WARNING: Couldn't parse Manubot response: list index out of range"
+},
{
"id": "pmid:37810464",
"manubot_success": true,
@@ -6074,6 +7054,40 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37305750"
},
+{
+ "id": "pmid:42058219",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42058219",
+ "title": "Immunological characterization of neuronal intranuclear inclusion disease with kidney injury: an exploratory analysis in a multi-center cohort.",
+ "type": "article-journal",
+ "doi": "10.3389/fimmu.2026.1797076",
+ "authors": [
+ ["Ying", "Ji"],
+ ["Xiaowen", "Li"],
+ ["Jin", "Tian"],
+ ["Xian", "Chen"],
+ ["Guang", "Ji"],
+ ["Maofeng", "Shi"],
+ ["Jing", "Zhang"],
+ ["Man", "Xia"],
+ ["Qianru", "An"],
+ ["Xiang", "Li"],
+ ["Liangyu", "Li"],
+ ["Wenjing", "Song"],
+ ["Ruixue", "Zhang"],
+ ["Lei", "Bao"],
+ ["Yuqiao", "Wang"],
+ ["Yingying", "Cui"],
+ ["Yuyao", "Tian"],
+ ["Hao", "Chen"]
+ ],
+ "publisher": "Frontiers in immunology",
+ "issn": "1664-3224",
+ "date": "2026-04-14",
+ "abstract": "Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by GGC repeat expansions in NOTCH2NLC, leading to uN2CpolyG protein deposition. Although immune-mediated renal lesions have been described in NIID, the systemic immunoinflammatory profile associated with kidney injury and its relationship with genetic burden remain undefined. This study investigated peripheral immune alterations in NIID-related nephropathy and their correlation with repeat expansion size.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42058219"
+},
{
"id": "pmid:41539185",
"manubot_success": true,
@@ -6129,6 +7143,50 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41539185"
},
+{
+ "id": "pmid:41942455",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41942455",
+ "title": "ASO therapy rescues NOTCH2NLC GGC repeat expansion-induced genomic damage, 3D chromatin structural abnormalities, and senescence.",
+ "type": "article-journal",
+ "doi": "10.1038/s41467-026-71516-7",
+ "authors": [
+ ["Mengjie", "Li"],
+ ["Mibo", "Tang"],
+ ["Xiaoyan", "Hao"],
+ ["Zhengwei", "Hu"],
+ ["Dongrui", "Ma"],
+ ["Shuangjie", "Li"],
+ ["Chunyan", "Zuo"],
+ ["Zhiyun", "Wang"],
+ ["Yuanyuan", "Liang"],
+ ["Yanmei", "Feng"],
+ ["Chenwei", "Hao"],
+ ["Chen", "Wang"],
+ ["Huanyu", "Li"],
+ ["Yalan", "Yang"],
+ ["Yuemeng", "Sun"],
+ ["Shasha", "Qi"],
+ ["Chengyuan", "Mao"],
+ ["Yuming", "Xu"],
+ ["Qun", "Wang"],
+ ["De", "Yang"],
+ ["Ruwei", "Yang"],
+ ["Ziyao", "Zhou"],
+ ["Peilin", "Ji"],
+ ["Song", "Tan"],
+ ["Zaiqiang", "Zhang"],
+ ["Hao", "Chen"],
+ ["Albert R", "La Spada"],
+ ["Changhe", "Shi"]
+ ],
+ "publisher": "Nature communications",
+ "issn": "2041-1723",
+ "date": "2026-04-07",
+ "abstract": "Neuronal intranuclear inclusion disease is caused by abnormal GGC repeat expansion in the NOTCH2NLC gene, though its pathogenic mechanism remains incompletely understood. This study shows that the abnormally expanded polyG-uN2C protein, encoded by the repeat sequence, contains intrinsically disordered regions and forms aggregates, leading to mislocalization of nucleophosmin and downregulation of fibrillarin. PolyG aggregates interact with nucleophosmin and rRNA, disrupting ribosomal homeostasis. Furthermore, polyG facilitates the downregulation of chromatin structural proteins CTCF and RAD21, thereby impairing chromatin organization. This pathological manifestation can be mitigated by restoring CTCF/RAD21 expression. Furthermore, in brain organoids derived from neuronal intranuclear inclusion disease patients, we observe nucleolar stress accompanied by genome-wide chromatin structural alterations. These changes correlate with increased DNA damage and cellular senescence phenotypes. Notably, antisense oligonucleotides targeting GGC effectively reduce polyG aggregation and ameliorate related molecular defects, ultimately alleviating senescence-associated phenotypes. These findings establish key mechanisms underlying neuronal intranuclear inclusion disease pathogenesis and provide proof-of-concept for targeted therapy.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41942455"
+},
{
"id": "pmid:39055960",
"manubot_success": true,
@@ -6306,6 +7364,28 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37371433"
},
+{
+ "id": "pmid:42005169",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42005169",
+ "title": "Adult-Onset Neuronal Intranuclear Inclusion Disease Initially Manifesting as Bladder Dysfunction: A Case Report.",
+ "type": "article-journal",
+ "doi": "10.7759/cureus.105488",
+ "authors": [
+ ["Anna", "Yamaki"],
+ ["Hirofumi", "Sekino"],
+ ["Satoshi", "Kawana"],
+ ["Ryo", "Yamakuni"],
+ ["Shiro", "Ishii"],
+ ["Hiroshi", "Ito"]
+ ],
+ "publisher": "Cureus",
+ "issn": "2168-8184",
+ "date": "2026-03-19",
+ "abstract": "Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by eosinophilic intranuclear inclusions and diverse clinical manifestations. In adults, NIID typically manifests as cognitive impairment, while autonomic dysfunction, such as bladder issues, is uncommon as an initial manifestation. We present a case of adult-onset NIID where bladder dysfunction preceded cognitive impairment by several years. A woman in her sixties experienced progressive urinary incontinence and voiding difficulties, necessitating intermittent self-catheterization. Early brain magnetic resonance imaging (MRI) revealed ribbonlike hyperintensity at the frontal corticomedullary junction on diffusion-weighted imaging, along with multifocal white matter lesions. However, no cognitive impairment was evident at that time. Subsequent cognitive decline progressed gradually. Further evaluation, including skin biopsy, showed ubiquitin-positive intranuclear inclusions, and genetic testing identified an abnormal guanine-guanine-cytosine (GGC) repeat expansion in the NOTCH2NLC gene, confirming the diagnosis of NIID. This case highlights that bladder dysfunction could precede cognitive impairment by years in adult-onset NIID. NIID should be considered in unexplained bladder dysfunction cases, particularly with suggestive MRI findings. Early recognition and minimally invasive skin biopsies can aid in prompt diagnosis.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42005169"
+},
{
"id": "pmid:38159879",
"manubot_success": true,
@@ -7107,6 +8187,12 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36977684"
},
+{
+ "id": "pmid:29939637",
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/29939637",
+ "note": "WARNING: Couldn't parse Manubot response: list index out of range"
+},
{
"id": "pmid:1683708",
"manubot_success": true,
@@ -7484,6 +8570,38 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39811557"
},
+{
+ "id": "pmid:41964406",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41964406",
+ "title": "Homozygous RFC1 AAGGG Repeat Expansions Are Common in Idiopathic Peripheral Neuropathy.",
+ "type": "article-journal",
+ "doi": "10.1002/ana.78226",
+ "authors": [
+ ["Zitian", "Tang"],
+ ["Sinem S", "Ovunc"],
+ ["Ryo", "Iwase"],
+ ["Elle", "Mehinovic"],
+ ["Simone", "Thomas"],
+ ["Jenna", "Ulibarri"],
+ ["Zefan", "Li"],
+ ["Dustin", "Baldridge"],
+ ["Carlos", "Cruchaga"],
+ ["Menghan", "Liu"],
+ ["Matt", "Johnson"],
+ ["Jeffrey", "Milbrandt"],
+ ["Brian", "Callaghan"],
+ ["Ahmet", "H\u00f6ke"],
+ ["Peter K", "Todd"],
+ ["Sheng Chih", "Jin"]
+ ],
+ "publisher": "Annals of neurology",
+ "issn": "1531-8249",
+ "date": "2026-04-11",
+ "abstract": "Biallelic intronic AAGGG repeat expansions in RFC1 cause cerebellar ataxia with neuropathy and vestibular areflexia syndrome and may also contribute to isolated sensory neuropathy. The clinical significance of both heterozygous and homozygous (biallelic) RFC1 expansions in more diverse patient populations remains unclear-partly due to the absence of accurate, user-friendly computational pipelines specifically tailored for tandem repeat analysis.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41964406"
+},
{
"id": "pmid:39230846",
"manubot_success": true,
@@ -8185,6 +9303,53 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15596620"
},
+{
+ "id": "pmid:41959811",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41959811",
+ "title": "A 5' UTR CCG expansion in",
+ "type": "article-journal",
+ "doi": "10.64898/2026.03.27.26349107",
+ "authors": [
+ ["Liedewei", "Van de Vondel"],
+ ["Riccardo", "Curro"],
+ ["Stefano", "Facchini"],
+ ["Isaac R L", "Xu"],
+ ["Jonathan", "De Winter"],
+ ["Ilaria", "Quartesan"],
+ ["Alice", "Monticelli"],
+ ["Alicia", "Alonso-Jimenez"],
+ ["Willem", "De Ridder"],
+ ["Alessandro", "Bertini"],
+ ["Gustavo", "Alves"],
+ ["Francesca", "Pizzuto"],
+ ["Hermione", "Ugolini"],
+ ["David", "Pellerin"],
+ ["Tim", "De Pooter"],
+ ["Ashirwad", "Merve"],
+ ["Pedro", "Machado"],
+ ["Lydia", "Sagath"],
+ ["Kornelia", "Neveling"],
+ ["Alexander", "Hoischen"],
+ ["Michael G", "Hanna"],
+ ["Robert D S", "Pitceathly"],
+ ["Henry", "Houlden"],
+ ["Arianna", "Tucci"],
+ ["Enrico", "Bugiardini"],
+ ["Stefen", "Brady"],
+ ["Mark", "Roberts"],
+ ["Matt C", "Danzi"],
+ ["Stephan", "Z\u00fcchner"],
+ ["Jonathan", "Baets"],
+ ["Andrea", "Cortese"]
+ ],
+ "publisher": "medRxiv : the preprint server for health sciences",
+ "issn": "",
+ "date": "2026-04-01",
+ "abstract": "Oculopharyngodistal myopathy (OPDM) is a group of rare, hereditary myopathies characterized by ptosis, external ophthalmoplegia, facial, pharyngeal and distal limb weakness and classically with rimmed vacuoles and intranuclear inclusions on muscle biopsy. Heterozygous CCG-CGG repeat expansions in the 5' UTR of six genes are known to cause OPDM, only one of which (",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41959811"
+},
{
"id": "pmid:35053321",
"manubot_success": true,
@@ -8811,6 +9976,12 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31539032"
},
+{
+ "id": "pmid:39666847",
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/39666847",
+ "note": "WARNING: Couldn't parse Manubot response: list index out of range"
+},
{
"id": "pmid:38973251",
"manubot_success": true,
@@ -9151,53 +10322,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25196122"
},
-{
- "id": "pmid:41959811",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41959811",
- "title": "A 5' UTR CCG expansion in",
- "type": "article-journal",
- "doi": "10.64898/2026.03.27.26349107",
- "authors": [
- ["Liedewei", "Van de Vondel"],
- ["Riccardo", "Curro"],
- ["Stefano", "Facchini"],
- ["Isaac R L", "Xu"],
- ["Jonathan", "De Winter"],
- ["Ilaria", "Quartesan"],
- ["Alice", "Monticelli"],
- ["Alicia", "Alonso-Jimenez"],
- ["Willem", "De Ridder"],
- ["Alessandro", "Bertini"],
- ["Gustavo", "Alves"],
- ["Francesca", "Pizzuto"],
- ["Hermione", "Ugolini"],
- ["David", "Pellerin"],
- ["Tim", "De Pooter"],
- ["Ashirwad", "Merve"],
- ["Pedro", "Machado"],
- ["Lydia", "Sagath"],
- ["Kornelia", "Neveling"],
- ["Alexander", "Hoischen"],
- ["Michael G", "Hanna"],
- ["Robert D S", "Pitceathly"],
- ["Henry", "Houlden"],
- ["Arianna", "Tucci"],
- ["Enrico", "Bugiardini"],
- ["Stefen", "Brady"],
- ["Mark", "Roberts"],
- ["Matt C", "Danzi"],
- ["Stephan", "Z\u00fcchner"],
- ["Jonathan", "Baets"],
- ["Andrea", "Cortese"]
- ],
- "publisher": "medRxiv : the preprint server for health sciences",
- "issn": "",
- "date": "2026-04-01",
- "abstract": "Oculopharyngodistal myopathy (OPDM) is a group of rare, hereditary myopathies characterized by ptosis, external ophthalmoplegia, facial, pharyngeal and distal limb weakness and classically with rimmed vacuoles and intranuclear inclusions on muscle biopsy. Heterozygous CCG-CGG repeat expansions in the 5' UTR of six genes are known to cause OPDM, only one of which (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41959811"
-},
{
"id": "pmid:41792844",
"manubot_success": true,
@@ -9244,7 +10368,7 @@
],
"publisher": "Journal of neurology, neurosurgery, and psychiatry",
"issn": "1468-330X",
- "date": "2025-07-11",
+ "date": "2026-05-14",
"abstract": "CGG expansions in",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40645757"
@@ -9986,6 +11110,82 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37205357"
},
+{
+ "id": "pmid:42196324",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42196324",
+ "title": "Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease Cohort.",
+ "type": "article-journal",
+ "doi": "10.3390/ijms27104345",
+ "authors": [
+ ["Zakhiriddin", "Khojakulov"],
+ ["Robin J", "Palvadeau"],
+ ["M\u00fcge", "Kovanc\u0131lar-Ko\u00e7"],
+ ["Irmak", "Atay"],
+ ["Irmak", "\u015eahbaz"],
+ ["\u015eeyma", "Tekg\u00fcl"],
+ ["Ay\u00e7a", "\u015eahin"],
+ ["Esmer Zeynep Duru", "Badakal"],
+ ["Tu\u011f\u00e7e", "G\u00fcl-Demirkale"],
+ ["Vildan", "\u00c7ift\u00e7i"],
+ ["Elif", "Bayraktar"],
+ ["Ceren", "Tunca"],
+ ["Natalia", "Smolina"],
+ ["Fulya", "Ak\u00e7imen"],
+ ["Ay\u015fe Nazl\u0131", "Ba\u015fak"]
+ ],
+ "publisher": "International journal of molecular sciences",
+ "issn": "1422-0067",
+ "date": "2026-05-13",
+ "abstract": "Short tandem repeat (STR) expansions are a major cause of neurodegenerative disorders; however, their genetic and clinical heterogeneity complicates diagnosis. STR detection remains limited in routine short-read next-generation sequencing (NGS) workflows. We evaluated the diagnostic yield and clinical utility of computational STR genotyping in a large Turkish neurodegenerative disease cohort. ExpansionHunter was applied to NGS data from 3150 patients and 146 controls, targeting 15 disease-associated STR loci. To improve genotyping of poorly captured exonic regions in exome data, the default locus coverage threshold was reduced from 10\u00d7 to 3\u00d7. Candidate expansions were visually inspected using REViewer and validated by conventional molecular methods. Computational analysis detected 28 pathogenic and 160 intermediate expansions. Of these, 23 were confirmed as pathogenic, and eight initially classified as intermediate were reclassified as pathogenic after conventional validation, resulting in 31 pathogenic cases across 28 families:",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42196324"
+},
+{
+ "id": "pmid:42138244",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42138244",
+ "title": "Limited Clinical Impact of Androgen Receptor Repeat Length (CAG and GGC) in Klinefelter Syndrome: A Multivariable Analysis.",
+ "type": "article-journal",
+ "doi": "10.1111/andr.70250",
+ "authors": [
+ ["Andrea", "Graziani"],
+ ["Alberto", "Scala"],
+ ["Maria Santa", "Rocca"],
+ ["Cinzia", "Vinanzi"],
+ ["Giuseppe", "Grande"],
+ ["Andrea", "Di Nisio"],
+ ["Riccardo", "Selice"],
+ ["Antonella", "Di Mambro"],
+ ["Alberto", "Ferlin"]
+ ],
+ "publisher": "Andrology",
+ "issn": "2047-2927",
+ "date": "2026-05-15",
+ "abstract": "Klinefelter syndrome (KS) is characterized by marked phenotypic heterogeneity that might be influenced by genetic modifiers, including androgen receptor (AR) repeat length (CAGn and GGCn). The clinical relevance of these repeat lengths in patients with KS before testosterone replacement therapy (TRT) remains unclear.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42138244"
+},
+{
+ "id": "pmid:42070078",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42070078",
+ "title": "Progressive Proximal Muscle Weakness Due to a 51 CAG Repeat Expansion in Exon 1 of the Androgen Receptor Gene: A Case Report of Kennedy Disease.",
+ "type": "article-journal",
+ "doi": "10.12659/ajcr.951080",
+ "authors": [
+ ["Nguyen", "Thi Tuong Vi"],
+ ["Nguyen", "Huu Thanh"],
+ ["Dong", "Thi Bien"],
+ ["Nguyen", "Hong Quan"]
+ ],
+ "publisher": "The American journal of case reports",
+ "issn": "1941-5923",
+ "date": "2026-05-03",
+ "abstract": "BACKGROUND Kennedy disease, also known as spinal and bulbar muscular atrophy (SBMA), is a rare and incurable X-linked neuromuscular disorder mainly affecting men aged 30 to 60 years. Polymyositis can present similarly, but can be excluded by measuring muscle enzymes, performing muscle imaging, and electromyography. This report describes the case of a 52-year-old man with a 10-year history of progressive limb weakness due to Kennedy disease, established by genetic testing. CASE REPORT A 52-year-old man presented with a 10-year history of gradually progressive proximal limb weakness and persistently elevated creatine kinase levels ranging from 808-2300 U/L (normal 39-308 U/L). One year prior to this admission, the limb weakness had worsened, but initial electromyography, neuroimaging, and muscle biopsy showed no specific abnormalities. Despite a trial of immunosuppressive therapy due to suspected polymyositis, there was no clinical improvement. Neurological examination later revealed gynecomastia, proximal muscle atrophy, and bilateral tongue atrophy with tremor. Electromyography showed chronic neurogenic changes and reduced sensory nerve action potentials. Repeat expansion analysis identified a hemizygous pathogenic CAG repeat expansion in exon 1 of the androgen receptor gene using a short-read next-generation sequencing-based repeat detection algorithm (ExpansionHunter), with an estimated repeat number of 51 (range 50-53). At 6-month follow-up, the patient demonstrated mild progression of motor symptoms but remained functionally stable. CONCLUSIONS This report presents a rare case of Kennedy disease, initially diagnosed as polymyositis, and highlights the importance of follow-up with genetic testing when neurological and electromyography investigations are not typical for polymyositis. Early identification of Kennedy disease helps avoid unnecessary immunosuppressive treatments.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42070078"
+},
{
"id": "pmid:42067676",
"manubot_success": true,
@@ -26520,6 +27720,82 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9973298"
},
+{
+ "id": "pmid:42204920",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42204920",
+ "title": "Genetic Variants and Clinical Characteristics of Young-Onset Parkinson's Disease in the Hakka Population of Western Fujian.",
+ "type": "article-journal",
+ "doi": "10.1002/brb3.71504",
+ "authors": [
+ ["Li-Ying", "Pan"],
+ ["Fang", "Guo"],
+ ["Chong", "Zheng"],
+ ["Xiao-Hong", "Hu"],
+ ["Yan-Gui", "Chen"],
+ ["Rong-Rong", "Lin"]
+ ],
+ "publisher": "Brain and behavior",
+ "issn": "2162-3279",
+ "date": "2026-06-01",
+ "abstract": "Young-onset Parkinson's disease (YOPD), defined by symptom onset at or before 50 years of age, has a strong genetic component. The mutation spectra vary markedly across ethnic groups. However, YOPD among the Hakka, a subgroup of the Han Chinese ethnicity, remains uncharacterized. We investigated the genetic and clinical profiles of YOPD in the Hakka population of western Fujian.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42204920"
+},
+{
+ "id": "pmid:42096001",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42096001",
+ "title": "Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed Cerebellar Ataxia - A Preliminary Study.",
+ "type": "article-journal",
+ "doi": "10.1007/s12311-026-02003-4",
+ "authors": [
+ ["Marta", "Matlawska"],
+ ["Karolina", "Ziora-Jakutowicz"],
+ ["Marie-Josee", "Dicaire"],
+ ["Joanna", "Pera"],
+ ["David", "Pellerin"],
+ ["Bernard", "Brais"],
+ ["Pablo", "Iruzubieta"],
+ ["Ewelina", "Elert-Dobkowska"],
+ ["Anna", "Sulek"]
+ ],
+ "publisher": "Cerebellum (London, England)",
+ "issn": "1473-4230",
+ "date": "2026-05-07",
+ "abstract": "Spinocerebellar ataxia type 27B (SCA27B), caused by an intronic GAA repeat expansion in the FGF14 gene, has recently emerged as a major cause of late-onset cerebellar ataxia (LOCA). Its prevalence and clinical profile in Central and Eastern Europe remain largely unknown. To determine the frequency and phenotypic characteristics of FGF14 GAA\u00b7TTC repeat expansions, a large cohort of Polish patients with undiagnosed adult-onset cerebellar ataxia was investigated. We retrospectively analyzed 701 patients (age of onset\u2009\u2265\u200925 years) with adult-onset cerebellar ataxia of unknown etiology, previously tested negative for SCA1, SCA2, SCA3, SCA8, and RFC1 expansions. GAA\u00b7TTC repeat lengths were assessed using long-range and repeat-primed PCR. Expansions\u2009\u2265\u2009250 repeats were classified as pathogenic. Clinical and MRI data were evaluated where available. A control group of 66 neurologically healthy individuals was also screened. Pathogenic FGF14 expansions (\u2265\u2009250 repeats) were identified in 4.4% (31/701) of patients, including 23 with fully penetrant (\u2265\u2009300) and 8 with incompletely penetrant (250-299) alleles. No pathogenic expansions were found in controls. The mean age of onset was 49.8 years. Common symptoms included balance and gait disturbances, cerebellar syndrome, and episodic features such as diplopia. Cerebellar atrophy was present in 45% of patients with available MRI. No significant correlation between repeat length and age of onset was observed. Our findings confirm that FGF14 repeat expansions are an underrecognized cause of LOCA in Poland and support their inclusion in standard genetic testing for adult-onset ataxias. Further studies are warranted to better define penetrance and genotype-phenotype correlations.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42096001"
+},
+{
+ "id": "pmid:42087256",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42087256",
+ "title": "Targeting the integrated stress response or Ataxin-2 alleviates neurodegeneration in PolyGR models of C9orf72 associated frontotemporal dementia and amyotrophic lateral sclerosis.",
+ "type": "article-journal",
+ "doi": "10.1186/s40478-026-02301-2",
+ "authors": [
+ ["Nikki S", "Harper"],
+ ["Joanne L", "Sharpe"],
+ ["Jasmine", "Speranza"],
+ ["Ravinder", "Gulia"],
+ ["Jeffrey X", "Chen"],
+ ["Scott P", "Allen"],
+ ["Manpreet S", "Atwal"],
+ ["Stuart", "Pickering-Brown"],
+ ["Matthew R", "Livesey"],
+ ["Craig L", "Bennett"],
+ ["Andreas", "Prokop"],
+ ["Albert R", "La Spada"],
+ ["Ryan J H", "West"]
+ ],
+ "publisher": "Acta neuropathologica communications",
+ "issn": "2051-5960",
+ "date": "2026-05-05",
+ "abstract": "Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal, early-onset neurodegenerative diseases. The most common genetic cause of FTD and ALS is a G4C2 hexanucleotide repeat expansion in the C9orf72 gene. This mutation leads to the production of toxic dipeptide repeat proteins (DPRs), via repeat-associated non-AUG (RAN) translation. These DPRs disrupt stress granule (SG) dynamics, with SG regulators such as Ataxin-2 (ATXN2) implicated in disease risk. The integrated stress response (ISR), a key driver of SG formation via eIF2\u03b1 phosphorylation, has been linked to C9orf72 expansions, but the role of individual DPRs in ISR activation remains unclear. Here, using Drosophila models expressing physiologically relevant repeat length DPRs, we identify poly(GR) as a novel activator of the ISR, inducing early and sustained eIF2\u03b1 phosphorylation and SG accumulation prior to motor decline. Genetic inhibition of the ISR or knockdown of ATX2, the Drosophila orthologue of ATXN2, rescues motor deficits in these models. ATXN2 knockdown also reduces poly(GR) toxicity in mouse primary neurons. These findings position poly(GR) as a key driver of ISR activation and highlight ATXN2 and the ISR as promising therapeutic targets in C9orf72-associated FTD/ALS.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42087256"
+},
{
"id": "pmid:42019185",
"manubot_success": true,
@@ -33560,6 +34836,56 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7762567"
},
+{
+ "id": "pmid:42191105",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42191105",
+ "title": "White matter structural network alterations in spinocerebellar ataxia type 3: A graph theory analysis.",
+ "type": "article-journal",
+ "doi": "10.1016/j.neuroscience.2026.05.027",
+ "authors": [
+ ["Qiannan", "Wang"],
+ ["Jingna", "Zhang"],
+ ["Liang", "Qiao"],
+ ["Li", "Wang"],
+ ["Linqiong", "Sang"],
+ ["Ye", "Zhang"],
+ ["Yalan", "Liao"],
+ ["Jingjing", "Liu"],
+ ["Mingguo", "Qiu"],
+ ["Bijia", "Wang"],
+ ["Chen", "Liu"]
+ ],
+ "publisher": "Neuroscience",
+ "issn": "1873-7544",
+ "date": "2026-05-25",
+ "abstract": "Spinocerebellar ataxia type 3 (SCA3) is an inherited neurodegenerative disorder characterized by progressive motor impairment and cerebellar atrophy. While previous studies have reported white matter (WM) microstructural damage in SCA3, the topological organization of WM structural networks and its relationship with genetic load and clinical severity remain poorly understood. Here, we applied graph theory to diffusion tensor imaging (DTI) data to investigate WM structural network alterations in 42 SCA3 patients and 41 age- and sex-matched healthy controls. We reconstructed WM structural networks and performed graph-theoretical analysis to evaluate network segregation and integration patterns. Compared to controls, SCA3 patients showed extensive microstructural damage in cerebral WM tracts, predominantly affecting the cerebello-thalamo-cortical pathway. Network topology was significantly disrupted, with reduced global efficiency (p\u00a0<\u00a00.001), decreased local efficiency (p\u00a0<\u00a00.001), and increased characteristic path length (p\u00a0<\u00a00.001). Node-level abnormalities were observed in the precentral gyrus, cerebellum, hippocampus, and thalamus (p\u00a0<\u00a00.05, FDR corrected). Crucially, nodal efficiency in vermis VI exhibited negative correlations with CAG repeat length (r\u00a0=\u00a0-0.62, p\u00a0<\u00a00.001), disease severity (r\u00a0=\u00a0-0.58, p\u00a0<\u00a00.001), and motor impairment scores (r\u00a0=\u00a0-0.65, p\u00a0<\u00a00.001). These results indicate that SCA3 involves a breakdown in both network segregation and integration. Nodal efficiency in the vermis VI represents a promising neuroimaging biomarker that bridges genetic load and motor decline, providing a potential tool for tracking disease progression.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42191105"
+},
+{
+ "id": "pmid:42105168",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42105168",
+ "title": "Cerebello-Brainstem Dominant Form of X-linked Adrenoleukodystrophy Without Apparent Brain MRI Abnormalities at Disease Onset.",
+ "type": "article-journal",
+ "doi": "10.1007/s12311-026-02018-x",
+ "authors": [
+ ["Yuki", "Nakagawa"],
+ ["Atsuhiko", "Sugiyama"],
+ ["Kazumoto", "Shibuya"],
+ ["Hajime", "Yokota"],
+ ["Takashi", "Matsukawa"],
+ ["Kazuki", "Ishiwata"],
+ ["Masahiro", "Mori"]
+ ],
+ "publisher": "Cerebellum (London, England)",
+ "issn": "1473-4230",
+ "date": "2026-05-09",
+ "abstract": "Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy (X-ALD) is a rare adult-onset phenotype that typically presents with slowly progressive spasticity and cerebellar ataxia. This phenotype can exhibit no apparent parenchymal signal abnormalities on brain MRI, thereby mimicking spinocerebellar ataxia. We encountered a 48-year-old Japanese man who developed slowly progressive spasticity and cerebellar ataxia beginning at age 35. Brain MRI performed 4 years later revealed only subtle cerebellar atrophy. Repeat-expansion testing identified an intermediate-length ATXN3 allele with 49 CAG repeats, and he received a provisional diagnosis of spinocerebellar ataxia type 3. Thirteen years after onset, follow-up MRI revealed new bilateral T2 hyperintensities in frontopontine fibers and cerebellar white matter. Markedly elevated very-long-chain fatty acid levels in plasma and a pathogenic ABCD1 variant confirmed the diagnosis of cerebello-brainstem dominant form of X-ALD. Detailed assessment identified compensated adrenal insufficiency, and his mother displayed mild neurologic symptoms, suggesting symptomatic carriage. This case highlights the importance of careful evaluation for adrenal insufficiency and a detailed family history assessment to detect subtle X-linked features in recognizing cerebello-brainstem dominant form of X-ALD in patients with progressive ataxia. It also suggests that longitudinal brain MRI can provide important diagnostic clues in patients with undiagnosed progressive ataxia, as characteristic demyelinating lesions along the frontopontine tract might emerge over time. Furthermore, because intermediate alleles in polyglutamine diseases are low-penetrance variants present in the general population, clinicians should avoid premature diagnostic closure and maintain careful diagnostic follow-up when encountering this finding to avoid missing treatable alternatives.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42105168"
+},
{
"id": "pmid:41854058",
"manubot_success": true,
@@ -33799,7 +35125,7 @@
["Chiamaka", "Okereke"],
["Olajumoke", "Oshinaike"],
["Emmanuel", "Iwuozo"],
- ["Suleyman", "Can Akerman"],
+ ["Suleyman Can", "Akerman"],
["Paul Suhwan", "Lee"],
["Shyngle", "Oyakhire"],
["Nosakhare", "Osemwegie"],
@@ -33898,8 +35224,8 @@
],
"publisher": "Brain : a journal of neurology",
"issn": "1460-2156",
- "date": "2025-10-08",
- "abstract": "Elucidating the genetic contributions to Parkinson's disease (PD) etiology across diverse ancestries is a critical priority for the development of targeted therapies in a global context. We conducted the largest sequencing characterization of potentially disease-causing, protein-altering and splicing mutations in 710 cases and 11,827 controls from genetically predicted African or African admixed ancestries. We explored copy number variants (CNVs) and runs of homozygosity (ROHs) in prioritized early onset and familial cases. Our study identified rare GBA1 coding variants to be the most frequent mutations among PD patients, with a frequency of 4% in our case cohort. Out of the 18 GBA1 variants identified, ten were previously classified as pathogenic or likely pathogenic, four were novel, and four were reported as of uncertain clinical significance. The most common known disease-associated GBA1 variants in the Ashkenazi Jewish and European populations, p.Asn409Ser, p.Leu483Pro, p.Thr408Met, and p.Glu365Lys, were not identified among the screened PD cases of African and African admixed ancestry. Similarly, the European and Asian LRRK2 disease-causing mutational spectrum, including LRRK2 p.Gly2019Ser and p.Gly2385Arg genetic risk factors, did not appear to play a major role in PD etiology among West African-ancestry populations. However, we found three heterozygous novel missense LRRK2 variants of uncertain significance overrepresented in cases, two of which-p.Glu268Ala and p.Arg1538Cys-had a higher prevalence in the African ancestry population reference datasets. Structural variant analyses revealed the presence of PRKN CNVs with a frequency of 0.7% in African and African admixed cases, with 66% of CNVs detected being compound heterozygous or homozygous in early-onset cases, providing further insights into the genetic underpinnings in early-onset juvenile PD in these populations. Short tandem repeat analysis also identified ATXN3 repeat expansions within the pathogenic range (CAGn\u202f>\u202f45) in three PD patients of African ancestry. Novel genetic variation overrepresented in cases versus controls among screened genes warrants further replication and functional prioritization to unravel their pathogenic potential. Here, we created the most comprehensive genetic catalog of both known and novel coding and splicing variants potentially linked to PD etiology in an underserved population and further conducted global and local ancestry analyses to further explore population-specific effects. Our study has the potential to guide the development of targeted therapies in the emerging era of precision medicine. By expanding genetics research to involve underrepresented populations, we hope that future PD treatments are not only effective but also inclusive, addressing the needs of diverse ancestral groups.",
+ "date": "2026-05-05",
+ "abstract": "Elucidating the genetic contributions to Parkinson's disease aetiology across diverse ancestries is a critical priority for the development of targeted therapies in a global context. We conducted the largest sequencing characterization of potentially disease-causing, protein-altering and splicing mutations in 710 cases and 11 827 controls from genetically predicted African or African admixed ancestries. We explored copy number variants (CNVs) and runs of homozygosity in prioritized early onset and familial cases. Our study identified rare GBA1 coding variants to be the most frequent mutations among patients with Parkinson's disease, with a frequency of 4% in our case cohort. Of the 18 GBA1 variants identified, 10 were previously classified as pathogenic or likely pathogenic, four were novel and four were reported as of uncertain clinical significance. The most common known disease-associated GBA1 variants in the Ashkenazi Jewish and European populations, p.Asn409Ser, p.Leu483Pro, p.Thr408Met and p.Glu365Lys, were not identified among the screened Parkinson's disease cases of African and African admixed ancestry. Similarly, the European and Asian LRRK2 disease-causing mutational spectrum, including LRRK2 p.Gly2019Ser and p.Gly2385Arg genetic risk factors, did not appear to play a major role in Parkinson's disease aetiology among West African ancestry populations. However, we found three heterozygous novel missense LRRK2 variants of uncertain significance, with two (p.Glu268Ala and p.Arg1538Cys) displaying higher frequencies in the African ancestry population reference datasets. Structural variant analyses revealed the presence of PRKN CNVs with a frequency of 0.7% in African and African admixed cases, with 66% of CNVs detected being compound heterozygous or homozygous in early-onset cases, providing further insights into the genetic underpinnings in early-onset juvenile Parkinson's disease in these populations. Short tandem repeat analysis also identified ATXN3 CAG repeat expansions within the pathogenic range (CAGn\u202f>\u202f45) in three patients with Parkinson's disease of African ancestry. Novel genetic variation among screened genes warrants further replication and functional prioritization to unravel their pathogenic potential. Here, we created the most comprehensive genetic catalogue of both known and novel coding and splicing variants potentially linked to Parkinson's disease aetiology in an underserved population and further conducted global and local ancestry analyses to further explore population-specific effects. Our study has the potential to guide the development of targeted therapies in the emerging era of precision medicine. By expanding genetics research to involve underrepresented populations, we hope that future Parkinson's disease treatments are not only effective but also inclusive, addressing the needs of diverse ancestral groups.",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41058593"
},
@@ -40987,6 +42313,43 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9288099"
},
+{
+ "id": "pmid:42094143",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42094143",
+ "title": "Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencing.",
+ "type": "article-journal",
+ "doi": "10.64898/2026.04.30.26352103",
+ "authors": [
+ ["Sophia B", "Gibson"],
+ ["Nikhita", "Damaraju"],
+ ["J Gus", "Gustafson"],
+ ["Elsa V", "Balton"],
+ ["Sirisak", "Chanprasert"],
+ ["Ian A", "Glass"],
+ ["Martha", "Horike-Pyne"],
+ ["Runjun D", "Kumar"],
+ ["Kathleen A", "Leppig"],
+ ["Chris", "Lundberg"],
+ ["Jane", "Ranchalis"],
+ ["Elisabeth A", "Rosenthal"],
+ ["Andrew K", "Solomon"],
+ ["Andrew B", "Stergachis"],
+ ["Mark", "Wener"],
+ ["Gail P", "Jarvik"],
+ ["Elizabeth E", "Blue"],
+ ["Katrina M", "Dipple"],
+ ["Harriet", "Dashnow"],
+ ["Lea M", "Starita"],
+ ["Danny E", "Miller"]
+ ],
+ "publisher": "medRxiv : the preprint server for health sciences",
+ "issn": "",
+ "date": "2026-05-01",
+ "abstract": "Tandem repeat expansions (TREs) cause over 60 known neurological, neuromuscular, and developmental disorders. Detecting these expansions genome-wide is challenging due to their size, sequence complexity (including interruptions), and population variation. While long-read sequencing is an emerging technology that can fully resolve many TREs, no methods have been described for genome-wide identification and prioritization of candidate pathogenic TREs with this technology.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42094143"
+},
{
"id": "pmid:41353794",
"manubot_success": true,
@@ -41121,115 +42484,21 @@
},
{
"id": "pmid:36703300",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36703300",
- "title": "Neuropathology of spinocerebellar ataxia type 8: Common features and unique tauopathy.",
- "type": "article-journal",
- "doi": "10.1111/neup.12894",
- "authors": [
- ["Yuki", "Yonenobu"],
- ["Goichi", "Beck"],
- ["Kansuke", "Kido"],
- ["Norihisa", "Maeda"],
- ["Rika", "Yamashita"],
- ["Kimiko", "Inoue"],
- ["Yuko", "Saito"],
- ["Masato", "Hasegawa"],
- ["Hidefumi", "Ito"],
- ["Kazuko", "Hasegawa"],
- ["Eiichi", "Morii"],
- ["Toru", "Iwaki"],
- ["Shigeo", "Murayama"],
- ["Hideki", "Mochizuki"]
- ],
- "publisher": "Neuropathology : official journal of the Japanese Society of Neuropathology",
- "issn": "1440-1789",
- "date": "2023-01-26",
- "abstract": "Spinocerebellar ataxia type 8 (SCA8) is a neurodegenerative condition that presents with several neurological symptoms, such as cerebellar ataxia, parkinsonism, and cognitive impairment. It is caused by a CTA/CTG repeat expansion on chromosome 13q21 (ataxin 8 opposite strand [ATXN8OS]). However, the pathological significance of this expansion remains unclear. Moreover, abnormal CTA/CTG repeat expansions in ATXN8OS have also been reported in other neurodegenerative diseases, including progressive supranuclear palsy. In this study, we analyzed all available autopsy cases in Japan to investigate common pathological features and profiles of tau pathology in each case. Severe neuronal loss in the substantia nigra and prominent loss of Purkinje cells, atrophy of the molecular layer, and proliferation of Bergmann glia in the cerebellum were common features. Regarding tauopathy, one case presented with progressive supranuclear palsy-like 4-repeat tauopathy in addition to mild Alzheimer-type 3- and 4-repeat tauopathy. Another case showed 3- and 4-repeat tauopathy accentuated in the brainstem. The other two cases lacked tauopathy after extensive immunohistochemical studies. The present study confirmed common pathological features of SCA8 as degeneration of the substantia nigra in addition to the cerebellum. Our study also confirmed unique tauopathy in two of four cases, indicating the necessity to further collect autopsy cases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36703300"
-},
-{
- "id": "pmid:34622207",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34622207",
- "title": "Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome.",
- "type": "article-journal",
- "doi": "10.1093/braincomms/fcab207",
- "authors": [
- ["Farah", "Qaiser"],
- ["Tara", "Sadoway"],
- ["Yue", "Yin"],
- ["Quratulain", "Zulfiqar Ali"],
- ["Charlotte M", "Nguyen"],
- ["Natalie", "Shum"],
- ["Ian", "Backstrom"],
- ["Paula T", "Marques"],
- ["Sepideh", "Tabarestani"],
- ["Renato P", "Munhoz"],
- ["Timo", "Krings"],
- ["Christopher E", "Pearson"],
- ["Ryan K C", "Yuen"],
- ["Danielle M", "Andrade"]
- ],
- "publisher": "Brain communications",
- "issn": "2632-1297",
- "date": "2021-09-14",
- "abstract": "Epilepsies are a group of common neurological disorders with a substantial genetic basis. Despite this, the molecular diagnosis of epilepsies remains challenging due to its heterogeneity. Studies utilizing whole-genome sequencing may provide additional insights into genetic causes of epilepsies of unknown aetiology. Whole-genome sequencing was used to evaluate a cohort of adults with unexplained developmental and epileptic encephalopathies (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34622207"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/36703300",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:36703300']' timed out after 3 seconds"
},
{
"id": "pmid:33526774",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33526774",
- "title": "Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia.",
- "type": "article-journal",
- "doi": "10.1038/s41398-021-01211-2",
- "authors": [
- ["Bahareh A", "Mojarad"],
- ["Yue", "Yin"],
- ["Roozbeh", "Manshaei"],
- ["Ian", "Backstrom"],
- ["Gregory", "Costain"],
- ["Tracy", "Heung"],
- ["Daniele", "Merico"],
- ["Christian R", "Marshall"],
- ["Anne S", "Bassett"],
- ["Ryan K C", "Yuen"]
- ],
- "publisher": "Translational psychiatry",
- "issn": "2158-3188",
- "date": "2021-02-01",
- "abstract": "The range of genetic variation with potential clinical implications in schizophrenia, beyond rare copy number variants (CNVs), remains uncertain. We therefore analyzed genome sequencing data for 259 unrelated adults with schizophrenia from a well-characterized community-based cohort previously examined with chromosomal microarray for CNVs (none with 22q11.2 deletions). We analyzed these genomes for rare high-impact variants considered causal for neurodevelopmental disorders, including single-nucleotide variants (SNVs) and small insertions/deletions (indels), for potential clinical relevance based on findings for neurodevelopmental disorders. Also, we investigated a novel variant type, tandem repeat expansions (TREs), in 45 loci known to be associated with monogenic neurological diseases. We found several of these variants in this schizophrenia population suggesting that these variants have a wider clinical spectrum than previously thought. In addition to known pathogenic CNVs, we identified 11 (4.3%) individuals with clinically relevant SNVs/indels in genes converging on schizophrenia-relevant pathways. Clinical yield was significantly enriched in females and in those with broadly defined learning/intellectual disabilities. Genome analyses also identified variants with potential clinical implications, including TREs (one in DMPK; two in ATXN8OS) and ultra-rare loss-of-function SNVs in ZMYM2 (a novel candidate gene for schizophrenia). Of the 233 individuals with no pathogenic CNVs, we identified rare high-impact variants (i.e., clinically relevant or with potential clinical implications) for 14 individuals (6.0%); some had multiple rare high-impact variants. Mean schizophrenia polygenic risk score was similar between individuals with and without clinically relevant rare genetic variation; common variants were not sufficient for clinical application. These findings broaden the individual and global picture of clinically relevant genetic risk in schizophrenia, and suggest the potential translational value of genome sequencing as a single genetic technology for schizophrenia.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33526774"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/33526774",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33526774']' timed out after 3 seconds"
},
{
"id": "pmid:31471687",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/31471687",
- "title": "Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China.",
- "type": "article-journal",
- "doi": "10.1007/s00415-019-09519-2",
- "authors": [
- ["Yao", "Zhou"],
- ["Yanchun", "Yuan"],
- ["Zhen", "Liu"],
- ["Sheng", "Zeng"],
- ["Zhao", "Chen"],
- ["Lu", "Shen"],
- ["Hong", "Jiang"],
- ["Kun", "Xia"],
- ["Beisha", "Tang"],
- ["Junling", "Wang"]
- ],
- "publisher": "Journal of neurology",
- "issn": "1432-1459",
- "date": "2019-08-30",
- "abstract": "Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused by CTA/CTG repeat expansion in the ATXN8/ATXN8OS gene.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31471687"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/31471687",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:31471687']' timed out after 3 seconds"
},
{
"id": "pmid:30109267",
@@ -42184,6 +43453,277 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23607545"
},
+{
+ "id": "pmid:42222887",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42222887",
+ "title": "Multimodal analysis of cell-free DNA identifies epigenetic biomarkers for amyotrophic lateral sclerosis diagnosis and progression.",
+ "type": "article-journal",
+ "doi": "10.1172/jci191508",
+ "authors": [
+ ["Sebastian", "Michels"],
+ ["Chaorong", "Chen"],
+ ["Wolfgang P", "Ruf"],
+ ["M Madhy", "Garcia Garcia"],
+ ["Frederick J", "Arnold"],
+ ["Zhuoxing", "Wu"],
+ ["Craig L", "Bennett"],
+ ["Daniel", "Shams"],
+ ["Leslie M", "Thompson"],
+ ["Alyssa C", "Walker"],
+ ["Dennis W", "Dickson"],
+ ["Leonard", "Petrucelli"],
+ ["Johannes", "Dorst"],
+ ["Mercedes", "Prudencio"],
+ ["Wei", "Li"],
+ ["Albert R", "La Spada"]
+ ],
+ "publisher": "The Journal of clinical investigation",
+ "issn": "1558-8238",
+ "date": "2026-06-01",
+ "abstract": "The role of the epigenome in age-related neurodegenerative disorders remains understudied. Here, we analyzed circulating cell-free DNA (cfDNA) from blood to detect methylation changes as a liquid biopsy for Amyotrophic Lateral Sclerosis (ALS). Our study included 20 patients with sporadic ALS, 10 patients with C9orf72-associated ALS, 10 asymptomatic carriers of the C9orf72 repeat expansion mutation, and 21 nondisease control individuals. Following targeted enzymatic methyl-sequencing (EM-seq) of approximately 4 million CpG sites, we detected numerous differentially methylated genes, including several implicated in ALS disease risk and pathogenesis. By integrating multiple epigenetic features, we delineated a distinct epigenetic signature, which achieved an average area under the curve (AUC) of 0.91 \u00b1 0.10 upon receiver operator characteristic (ROC) analysis, which enabled detection of approximately 70% of patients with ALS with close to 100% specificity. Furthermore, we also identified a set of genes whose methylation status significantly correlated with clinical disease progression and cerebrospinal fluid (CSF) neurofilament levels. Our results reveal the potential of cfDNA-based biomarkers to accurately diagnose ALS and potentially predict disease progression.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42222887"
+},
+{
+ "id": "pmid:42221822",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42221822",
+ "title": "Global transcriptional changes across multiple isogenic",
+ "type": "article-journal",
+ "doi": "10.1016/j.isci.2026.116054",
+ "authors": [
+ ["Aparna", "Sreeram"],
+ ["Desiree M", "Baron"],
+ ["Alberto", "Brusati"],
+ ["Karly", "Stallworth"],
+ ["Jack", "Humphrey"],
+ ["John E", "Landers"]
+ ],
+ "publisher": "iScience",
+ "issn": "2589-0042",
+ "date": "2026-05-22",
+ "abstract": "Hexanucleotide repeat expansions in",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42221822"
+},
+{
+ "id": "pmid:42211284",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42211284",
+ "title": "Disrupted sleep-wake cycles and circadian rhythms in a",
+ "type": "article-journal",
+ "doi": "10.3389/fnins.2026.1814072",
+ "authors": [
+ ["Kendall E", "Eby"],
+ ["Braeden R", "Shields"],
+ ["Isabella", "DelNegro"],
+ ["Sarah", "Morley"],
+ ["Pamela A", "Snodgrass-Belt"],
+ ["Marla", "Tipping"]
+ ],
+ "publisher": "Frontiers in neuroscience",
+ "issn": "1662-4548",
+ "date": "2026-05-13",
+ "abstract": "Frontotemporal dementia (FTD) is a neurodegenerative disorder that affects behavior, personality, motor activity, speech, cognition, and sleeping patterns. Previous findings support the idea that disruption of sleep and circadian systems may not only be affected by this disease but also work to actively shape the clinical phenotype of FTD. Thus, understanding how sleep-wake cycles are altered may provide insight into mechanisms that influence both disease progression and quality of life. We studied an established",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42211284"
+},
+{
+ "id": "pmid:42160515",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42160515",
+ "title": "Immunotherapeutic landscape of amyotrophic lateral sclerosis: A bibliometric analysis of research trends, translational priorities, and collaboration networks (2006-2025).",
+ "type": "article-journal",
+ "doi": "10.1080/21645515.2026.2664985",
+ "authors": [
+ ["Ming", "Zhang"],
+ ["Wenshuo", "Yang"],
+ ["Junxin", "Wang"],
+ ["Biqi", "Zou"],
+ ["Jialin C", "Zheng"],
+ ["Qihui", "Wu"],
+ ["Ge", "Gao"]
+ ],
+ "publisher": "Human vaccines & immunotherapeutics",
+ "issn": "2164-554X",
+ "date": "2026-05-20",
+ "abstract": "Amyotrophic lateral sclerosis (ALS) remains a major therapeutic challenge, with immune dysregulation increasingly recognized as a critical driver of disease progression. Despite extensive mechanistic research, no immunotherapeutic approach has achieved consistent disease-modifying effects, raising questions about whether this translational gap reflects biological complexity or structural misalignment within the research ecosystem. To characterize the intellectual evolution of ALS immunotherapeutics research, identify immune targets with translational potential, and evaluate collaboration patterns that may influence translational efficiency, we performed a bibliometric analysis of 2,256 publications indexed in Web of Science and Scopus using network-based approaches including co-citation clustering, keyword co-occurrence, and citation burst detection implemented in CiteSpace, VOSviewer, and R-Bibliometrix. Publication output increased 8.4-fold over the study period, delineating three developmental phases. Thematic analyses revealed a shift from early emphasis on microglial biology and SOD1-based models toward recent focus areas including the gut-brain axis, C9orf72-associated immune dysregulation, and advanced immunomodulatory strategies. Collaboration networks remain predominantly regional despite strong contributions from the United States, Europe, and Asia, with limited integration between mechanistic research groups and clinical trial consortia. Among immune-directed therapeutic strategies, regulatory T cell modulation and microglial-targeted approaches exhibit the highest translational readiness. These findings suggest that the lack of effective ALS immunotherapeutics reflects not only biological complexity but also structural and strategic misalignment within the research ecosystem. This bibliometric analysis provides a systems-level framework to guide more integrated translational strategies in ALS immunotherapeutics development.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42160515"
+},
+{
+ "id": "pmid:42158267",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42158267",
+ "title": "Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With Late-Onset Behavioral Change.",
+ "type": "article-journal",
+ "doi": "10.1212/nxg.0000000000200382",
+ "authors": [
+ ["Joan", "Groeneveld"],
+ ["Sterre C M", "de Boer"],
+ ["Welmoed", "Krudop"],
+ ["Georgii", "Ozhegov"],
+ ["Marc", "Hulsman"],
+ ["Annemieke", "Dols"],
+ ["Cora J", "Kerssens"],
+ ["Sigfried", "Schouws"],
+ ["Frederik", "Barkhof"],
+ ["Henne", "Holstege"],
+ ["Yolande A L", "Pijnenburg"],
+ ["Sven J", "Van Der Lee"],
+ ["Flora H", "Duits"]
+ ],
+ "publisher": "Neurology. Genetics",
+ "issn": "2376-7839",
+ "date": "2026-05-14",
+ "abstract": "The diagnosis of behavioral variant frontotemporal dementia is often difficult because behavioral change has a broad differential diagnosis. Genetic testing may aid in the diagnostic process. We investigated the prevalence of pathogenic genetic variants (PGVs) in individuals referred to our memory clinic with late-onset behavioral change and identified clinical \"red flags\" for PGV carriership, specifically in diagnostically ambiguous cases.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42158267"
+},
+{
+ "id": "pmid:42147445",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42147445",
+ "title": "Arrayed dual-gRNA CRISPR screening platform for",
+ "type": "article-journal",
+ "doi": "10.1016/j.omta.2026.201741",
+ "authors": [
+ ["Olubankole Aladesuyi", "Arogundade"],
+ ["Katie Jing Kay", "Lam"],
+ ["Katherine A", "Brown"],
+ ["Tanya", "Jain"],
+ ["Patrick O", "Issagholian-Lewin"],
+ ["Cerianne", "Huang"],
+ ["Taylor", "Rae-Hudson"],
+ ["Kevin", "Briseno"],
+ ["Stacia K", "Wyman"],
+ ["Netravathi", "Krishnappa"],
+ ["Christy Ann", "George"],
+ ["Kierney", "O'Dare"],
+ ["Rosemary H C", "Wilson"],
+ ["Patrick", "van Eijk"],
+ ["Simon H", "Reed"],
+ ["Petros", "Giannikopoulos"],
+ ["Claire D", "Clelland"]
+ ],
+ "publisher": "Molecular therapy. Advances",
+ "issn": "3117-387X",
+ "date": "2026-04-20",
+ "abstract": "An intronic hexanucleotide repeat expansion in",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42147445"
+},
+{
+ "id": "pmid:42145639",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42145639",
+ "title": "The New York Genome Center ALS Consortium resource integrates postmortem tissue transcriptomics and whole genome sequencing to empower biological discovery.",
+ "type": "article-journal",
+ "doi": "10.64898/2026.04.29.26350889",
+ "authors": [
+ ["Jack", "Humphrey"],
+ ["Ali", "Oku"],
+ ["Marta", "Byrska-Bishop"],
+ ["Anna O", "Basile"],
+ ["Uday S", "Evani"],
+ ["Andr\u00e9", "Corvelo"],
+ ["Alex", "Tokolyi"],
+ ["Kailash", "Bp"],
+ ["Aline", "R\u00e9al"],
+ ["Yebin", "Kim"],
+ ["Marielle L", "Bond"],
+ ["Wayne E", "Clarke"],
+ ["Rui", "Fu"],
+ ["Heather", "Geiger"],
+ ["Sei", "Chang"],
+ ["Tatsuhiko", "Naito"],
+ ["Beomjin", "Jang"],
+ ["Rajeeva", "Musunuri"],
+ ["Winston H", "Dredge"],
+ ["Rashid", "Al-Abri"],
+ ["Benjamin N", "Hoover"],
+ ["Dina", "Manaa"],
+ ["Jaime", "McClintock"],
+ ["Faith P", "Singh"],
+ ["Maria H", "Pedersen"],
+ ["Alexi", "Runnels"],
+ ["Nadia", "Propp"],
+ ["Samantha", "Fennessey"],
+ ["Hong-Hee", "Won"],
+ ["Michael C", "Zody"],
+ ["Giuseppe", "Narzisi"],
+ ["Nicolas", "Robine"],
+ ["Tuuli", "Lappalainen"],
+ ["Delphine", "Fagegaltier"],
+ ["Gamze", "G\u00fcrsoy"],
+ ["David A", "Knowles"],
+ ["Towfique", "Raj"],
+ ["Matthew B", "Harms"],
+ ["Hemali", "Phatnani"]
+ ],
+ "publisher": "medRxiv : the preprint server for health sciences",
+ "issn": "",
+ "date": "2026-05-04",
+ "abstract": "Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with substantial genetic and clinical heterogeneity that impedes therapeutic development. Large-scale multi-tissue genomic resources have transformed the study of neuropsychiatric and neurodegenerative diseases, but no equivalent resource exists for ALS. Here we present the full NYGC ALS Consortium dataset, combining whole-genome sequencing from 4,746 donors and bulk RNA-seq from 2,574 samples across 8 brain and spinal cord regions from 695 donors across the ALS disease spectrum. Our catalogue of small variants, structural variants, and short tandem repeats identified likely pathogenic mutations in 15.6% of ALS cases. Gene expression and mRNA splicing analysis across 5 major tissues reveals shared and region-specific features, highlighting microglial and T-cell dysregulation in the spinal cord. Mapping the genetic regulation of expression and splicing across tissues identified associations with 6 ALS risk loci, whereas allele-specific rare variant analysis detected expression effects for",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42145639"
+},
+{
+ "id": "pmid:42135512",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42135512",
+ "title": "Integrated single-cell and spatial transcriptomic profiling in ALS uncovers peripheral-to-central immune infiltration and reprogramming.",
+ "type": "article-journal",
+ "doi": "10.1038/s41593-026-02300-5",
+ "authors": [
+ ["Ziyang", "Zhang"],
+ ["Lynn", "van Olst"],
+ ["Francesco", "Alessandrini"],
+ ["Matthew", "Wright"],
+ ["Alex J", "Edwards"],
+ ["Jake", "Boles"],
+ ["Anait", "Nalbandian"],
+ ["Anne V", "Forsyth"],
+ ["Nate", "Shepard"],
+ ["Thomas", "Watson"],
+ ["Evan", "Kaspi"],
+ ["Angeli", "Mittal"],
+ ["Joshua", "Kuruvilla"],
+ ["Natalie", "Piehl"],
+ ["Abhirami", "Ramakrishnan"],
+ ["Stanley", "Appel"],
+ ["Evangelos", "Kiskinis"],
+ ["David", "Gate"]
+ ],
+ "publisher": "Nature neuroscience",
+ "issn": "1546-1726",
+ "date": "2026-05-14",
+ "abstract": "Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder marked by progressive motor neuron (MN) degeneration in the brain and spinal cord. Although neuroinflammation is increasingly recognized as a hallmark of ALS, the precise molecular programs linking immune responses to MN pathology remain poorly defined. Using an integrated approach that combines single-cell and bulk RNA sequencing with spatial proteogenomics, we characterized both shared and distinct immune dynamics in peripheral blood and spinal cord tissues from patients with sporadic ALS and those carrying C9orf72 repeat expansions. Our analysis revealed broad immune remodeling in C9orf72 ALS, ALS subtype-specific and progression-associated differences in monocyte activation and antigen-experienced CD8 effector memory T cells with clonal features consistent with antigen-driven responses. Spatial mapping revealed complement activation and lipid-programmed myeloid states converging at sites of MN loss and TDP-43 pathology. Together, these findings connect peripheral and central immune alterations to ALS heterogeneity and highlight stratified immunomodulation as a potential therapeutic strategy.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42135512"
+},
+{
+ "id": "pmid:42095061",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42095061",
+ "title": "Systematic proteomics reveals plasma NEFL as a robust predictor and pathological associate in",
+ "type": "article-journal",
+ "doi": "10.3389/fnagi.2026.1792887",
+ "authors": [
+ ["Zhen", "Hu"],
+ ["Jing-Jin", "Wan"],
+ ["Qin-Qin", "Yan"],
+ ["Yu", "Fan"],
+ ["Jun", "Liu"]
+ ],
+ "publisher": "Frontiers in aging neuroscience",
+ "issn": "1663-4365",
+ "date": "2026-04-21",
+ "abstract": "The",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42095061"
+},
{
"id": "pmid:42033225",
"manubot_success": true,
@@ -42257,7 +43797,7 @@
"publisher": "bioRxiv : the preprint server for biology",
"issn": "2692-8205",
"date": "2026-04-15",
- "abstract": "Repeat expansions of the hexanucleotide GGGGCC in C9orf72 form aberrant phase transitions that have been linked to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. RNA structures such as G-quadruplexes and hairpins play important roles in these processes. Here, we show that the human microprotein ZNF706 acts as a modulator of G-quadruplex formation and RNA phase behavior. ZNF706 antagonizes pathological gel-solid transitions by melting hexanucleotide repeat G-quadruplex structures converting gel-like aggregates into more dynamic condensates. Loss of ZNF706 enhances the cellular production clearance of hexanucleotide repeat-mediated dipeptide repeat proteins, while overexpression suppresses their production and promotes clearance. Mechanistically, ZNF706 influences hexanucleotide repeat condensate fluidity and viscoelasticity. We find ZNF706 acts as an RNA chaperone that remodels repeat RNA structures and solubilizes RNA aggregates. This activity represents one mechanism whereby cells can regulate G-quadruplex driven phase transitions linked to neurodegenerative diseases.",
+ "abstract": "Repeat expansions of the hexanucleotide GGGGCC in",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41993388"
},
@@ -42289,46 +43829,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41987036"
},
-{
- "id": "pmid:41986690",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41986690",
- "title": "Somatic mosaicism in ALS and FTD identifies focal mutations associated with widespread degeneration.",
- "type": "article-journal",
- "doi": "10.1038/s41588-026-02570-6",
- "authors": [
- ["Zinan", "Zhou"],
- ["Junho", "Kim"],
- ["August Yue", "Huang"],
- ["Matthew", "Nolan"],
- ["Junseok", "Park"],
- ["Ryan", "Doan"],
- ["Taehwan", "Shin"],
- ["Michael B", "Miller"],
- ["Mingyun", "Bae"],
- ["Boxun", "Zhao"],
- ["Jinhyeong", "Kim"],
- ["Brian", "Chhouk"],
- ["Katherine", "Morillo"],
- ["Rebecca C", "Yeh"],
- ["Connor", "Kenny"],
- ["Jennifer E", "Neil"],
- ["Chao-Zong", "Lee"],
- ["Takuya", "Ohkubo"],
- ["John", "Ravits"],
- ["Olaf", "Ansorge"],
- ["Lyle W", "Ostrow"],
- ["Clotilde", "Lagier-Tourenne"],
- ["Eunjung Alice", "Lee"],
- ["Christopher A", "Walsh"]
- ],
- "publisher": "Nature genetics",
- "issn": "1546-1718",
- "date": "2026-04-15",
- "abstract": "Although mutations in many genes cause familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), most cases are sporadic (sALS and sFTD) with unclear etiology. Here we tested whether somatic mutations contribute to sALS and sFTD by deep targeted sequencing of 88 neurodegeneration-related genes in postmortem brain and spinal cord samples from 399 sporadic cases and 144 controls. Predicted deleterious somatic variants in ALS/FTD genes were observed in 2.1% of sporadic cases lacking deleterious germline variants. These variants occurred at very low allele fractions (typically <2%) and were often focal and enriched in disease-affected regions. Analysis of bulk RNA-sequencing data from an additional cohort identified deleterious somatic variants in DYNC1H1 and LMNA, genes associated with pediatric motor neuron degeneration. Targeted long-read sequencing further identified one sFTD case with de novo somatic C9orf72 repeat expansions. Together, these findings suggest that rare, focal somatic variants can contribute to sALS and sFTD and drive widespread neurodegeneration.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41986690"
-},
{
"id": "pmid:41961863",
"manubot_success": true,
@@ -42353,95 +43853,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41961863"
},
-{
- "id": "pmid:41957010",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41957010",
- "title": "Unraveling the genetic architecture of non-Huntington chorea: a biobank-scale study of rare variants and repeat expansions.",
- "type": "article-journal",
- "doi": "10.1038/s41525-026-00567-y",
- "authors": [
- ["Fulya", "Ak\u00e7imen"],
- ["Monica", "Diez-Fairen"],
- ["Ignacio", "Alvarez"],
- ["Victor", "Puente"],
- ["Spencer", "Grant"],
- ["Jorge", "Hernandez-Vara"],
- ["Marzieh", "Khani"],
- ["Mariateresa", "Buongiorno"],
- ["F\u00e9lix Javier", "Jim\u00e9nez-Jim\u00e9nez"],
- ["Jos\u00e9 A G", "Ag\u00fandez"],
- ["Miquel", "Aguilar"],
- ["Esther", "Cubo"],
- ["Jesus", "Perez"],
- ["Javier", "Pagonabarraga"],
- ["N\u00faria", "Caballol"],
- ["Asuncion", "Avila"],
- ["Jinhui", "Ding"],
- ["Elena", "Garc\u00eda-Mart\u00edn"],
- ["Hortensia", "Alonso-Navarro"],
- ["Yaroslau", "Compta"],
- ["Carlos", "Cruchaga"],
- ["Katrin", "Beyer"],
- ["J Raphael", "Gibbs"],
- ["Andrew", "Singleton"],
- ["Sara", "Bandres-Ciga"],
- ["Pau", "Pastor"]
- ],
- "publisher": "NPJ genomic medicine",
- "issn": "2056-7944",
- "date": "2026-04-09",
- "abstract": "Chorea can arise from genetic, metabolic, pharmacologic, and autoimmune causes. In clinical practice, however, non-genetic causes are rare. The most common genetic cause is a CAG repeat expansion in HTT, leading to Huntington's disease (HD). Beyond HD, systematic studies have been lacking and many individuals with non-HD chorea remain without a molecular diagnosis. We conducted whole-exome and genome sequencing analysis on 190 non-HD chorea cases, leveraging data from the All of Us Research Program (n\u2009=\u2009134), UK Biobank (n\u2009=\u200926), and a clinically ascertained multicenter Spanish cohort recruited by the Spanish Study Group for Genetics of Chorea (SSGGC) (n\u2009=\u200930). Variant calling was performed without pre-filtering based on a disease or gene list, and variants were clinically contextualized using OMIM, ClinVar, and in silico predictions. We identified thirteen protein-altering variants, including six previously described as pathogenic or likely pathogenic. Notably, we identified a pathogenic JPH3 expansion in a patient of Black race and c9orf72 expansions in individuals of European and South Asian ancestry. These findings explained 23% of cases in the SSGGC, 12% in UK Biobank, and 4% in All of Us. Our results broaden the genetic architecture of non-HD chorea and highlight the value of multi-ancestry genomic approaches for rare movement disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41957010"
-},
-{
- "id": "pmid:41951733",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41951733",
- "title": "Population-scale repeat expansions elucidate disease risk and brain atrophy.",
- "type": "article-journal",
- "doi": "10.1038/s41586-026-10345-6",
- "authors": [
- ["Vijay Kumar", "Pounraja"],
- ["Jae Hoon", "Sul"],
- ["Joseph", "Herman"],
- ["Sean", "O'Keeffe"],
- ["Veera", "Rajagopal"],
- ["Xiaodong", "Bai"],
- ["Michael D", "Kessler"],
- ["Neelroop", "Parikshak"],
- ["Karl", "Landheer"],
- ["Xingmin", "Zhang"],
- ["Sean", "Yu"],
- ["Lance", "Zhang"],
- ["Michelle G", "LeBlanc"],
- ["Jennifer", "Rico-Varela"],
- ["Frederic", "Grau"],
- ["Sarah", "Wolf"],
- ["Sriramkumar", "Sundaramoorthy"],
- ["Farshid", "Sepehrband"],
- ["Eli A", "Stahl"],
- ["Yuda", "Huo"],
- ["Mohsin", "Ahmed"],
- ["Susan", "Croll"],
- ["William", "Salerno"],
- ["John D", "Overton"],
- ["Jonathan", "Marchini"],
- ["Jeffrey", "Reid"],
- ["Luca A", "Lotta"],
- ["Aris", "Baras"],
- ["Goncalo R", "Abecasis"],
- ["Giovanni", "Coppola"],
- ["Sahar", "Gelfman"]
- ],
- "publisher": "Nature",
- "issn": "1476-4687",
- "date": "2026-04-08",
- "abstract": "Pathogenic expansions of short tandem repeats (STRs) cause over 70 neurological diseases",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41951733"
-},
{
"id": "pmid:41928938",
"manubot_success": true,
@@ -45072,6 +46483,36 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40150989"
},
+{
+ "id": "pmid:40138021",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/40138021",
+ "title": "Analysis of C9orf72 repeat length in progressive supranuclear palsy, corticobasal syndrome, corticobasal degeneration, and atypical parkinsonism.",
+ "type": "article-journal",
+ "doi": "10.1007/s00415-025-12990-9",
+ "authors": [
+ ["David P", "Vaughan"],
+ ["Raquel", "Real"],
+ ["Marte Theilmann", "Jensen"],
+ ["Riona G", "Fumi"],
+ ["Megan", "Hodgson"],
+ ["Edwin", "Jabbari"],
+ ["Danielle", "Lux"],
+ ["Lesley", "Wu"],
+ ["Thomas T", "Warner"],
+ ["Zane", "Jaunmuktane"],
+ ["Tamas", "Revesz"],
+ ["James B", "Rowe"],
+ ["Jonathan", "Rohrer"],
+ ["Huw R", "Morris"]
+ ],
+ "publisher": "Journal of neurology",
+ "issn": "1432-1459",
+ "date": "2025-03-26",
+ "abstract": "Pathogenic hexanucleotide repeat expansions in C9orf72 are the commonest genetic cause of frontotemporal dementia and/or amyotrophic lateral sclerosis. There is growing interest in intermediate repeat expansions in C9orf72 and their relationship to a wide range of neurological presentations, including Alzheimer's disease, Parkinson's disease, progressive supranuclear palsy, corticobasal degeneration, and corticobasal syndromes.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40138021"
+},
{
"id": "pmid:40073860",
"manubot_success": true,
@@ -46563,30 +48004,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39229486"
},
-{
- "id": "pmid:39226712",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39226712",
- "title": "C9orf72 gene repeat expansion phenotype profile of motor neurone disease in Portugal.",
- "type": "article-journal",
- "doi": "10.1016/j.jns.2024.123208",
- "authors": [
- ["Cl\u00e1udia", "Santos Silva"],
- ["Marta", "Gormicho"],
- ["Sara", "Sim\u00e3o"],
- ["Ana Catarina", "Pronto-Laborinho"],
- ["In\u00eas", "Alves"],
- ["Susana", "Pinto"],
- ["Miguel", "Oliveira Santos"],
- ["Mamede", "de Carvalho"]
- ],
- "publisher": "Journal of the neurological sciences",
- "issn": "1878-5883",
- "date": "2024-08-30",
- "abstract": "C9orf72 gene repeat expansion (C9RE) is the most frequent gene variant associated with amyotrophic lateral sclerosis (ALS). We aimed to study the phenotype of motor neurone disease (MND) patients with C9RE in a Portuguese cohort.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39226712"
-},
{
"id": "pmid:39222049",
"manubot_success": true,
@@ -53859,6 +55276,81 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33709219"
},
+{
+ "id": "pmid:33705846",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33705846",
+ "title": "Porphyrins ameliorate spinocerebellar ataxia type 36 GGCCTG repeat expansion-mediated cytotoxicity.",
+ "type": "article-journal",
+ "doi": "10.1016/j.neures.2021.03.001",
+ "authors": [
+ ["Kimitoshi", "Hirayanagi"],
+ ["Hiroaki", "Ozaki"],
+ ["Setsuki", "Tsukagoshi"],
+ ["Natsumi", "Furuta"],
+ ["Yoshio", "Ikeda"]
+ ],
+ "publisher": "Neuroscience research",
+ "issn": "1872-8111",
+ "date": "2021-03-08",
+ "abstract": "Spinocerebellar ataxia type 36 (SCA36) is a noncoding repeat expansion disorder caused by an expanded GGCCTG hexanucleotide repeat (HNR) in the first intron of the nucleolar protein 56 (NOP56) gene. Another disease-causing HNR expansion derived from C9orf72-linked GGGGCC repeats that form G-quadruplexes (GQs) affects genetic stability, RNA splicing, and mRNA localization within neurites. The porphyrin derivative TMPyP4 was shown to ameliorate RNA toxicity caused by GGGGCC HNR expansion by binding and distorting RNA GQ structures. SCA36 GGCCTG HNRs can potentially form RNA GQs; therefore, we investigated whether several porphyrin derivatives could reduce RNA toxicity in SCA36 cell models. Among these, sodium copper chlorophyllin and hemin chloride, which have already been used in clinical practice, reduced SCA36 GGCCTG expansion-mediated cytotoxicity and improved cell viability. These data suggest that porphyrins are potential therapeutic candidates against SCA36 pathogenesis.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33705846"
+},
+{
+ "id": "pmid:33663561",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33663561",
+ "title": "Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction.",
+ "type": "article-journal",
+ "doi": "10.1186/s13024-021-00433-8",
+ "authors": [
+ ["Emma M", "Perkins"],
+ ["Karen", "Burr"],
+ ["Poulomi", "Banerjee"],
+ ["Arpan R", "Mehta"],
+ ["Owen", "Dando"],
+ ["Bhuvaneish T", "Selvaraj"],
+ ["Daumante", "Suminaite"],
+ ["Jyoti", "Nanda"],
+ ["Christopher M", "Henstridge"],
+ ["Thomas H", "Gillingwater"],
+ ["Giles E", "Hardingham"],
+ ["David J A", "Wyllie"],
+ ["Siddharthan", "Chandran"],
+ ["Matthew R", "Livesey"]
+ ],
+ "publisher": "Molecular neurodegeneration",
+ "issn": "1750-1326",
+ "date": "2021-03-04",
+ "abstract": "Physiological disturbances in cortical network excitability and plasticity are established and widespread in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) patients, including those harbouring the C9ORF72 repeat expansion (C9ORF72",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33663561"
+},
+{
+ "id": "pmid:33661518",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33661518",
+ "title": "Chemical chaperones targeted to the endoplasmic reticulum (ER) and lysosome prevented neurodegeneration in a C9orf72 repeat expansion drosophila amyotrophic lateral sclerosis (ALS) model.",
+ "type": "article-journal",
+ "doi": "10.1007/s43440-021-00226-2",
+ "authors": [
+ ["Salome", "Azoulay-Ginsburg"],
+ ["Michela", "Di Salvio"],
+ ["Michal", "Weitman"],
+ ["Michal", "Afri"],
+ ["Sara", "Ribeiro"],
+ ["Simon", "Ebbinghaus"],
+ ["Gianluca", "Cestra"],
+ ["Arie", "Gruzman"]
+ ],
+ "publisher": "Pharmacological reports : PR",
+ "issn": "2299-5684",
+ "date": "2021-03-04",
+ "abstract": "ALS is an incurable neuromuscular degenerative disorder. A familiar form of the disease (fALS) is related to point mutations. The most common one is an expansion of a noncoding GGGGCC hexanucleotide repeat of the C9orf72 gene on chromosome 9p21. An abnormal translation of the C9orf72 gene generates dipeptide repeat proteins that aggregate in the brain. One of the classical approaches for developing treatment against protein aggregation-related diseases is to use chemical chaperones (CSs). In this work, we describe the development of novel 4-phenylbutyric acid (4-PBA) lysosome/ER-targeted derivatives. We assumed that 4-PBA targeting to specific organelles, where protein degradation takes place, might reduce the 4-PBA effective concentration.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33661518"
+},
{
"id": "pmid:33619157",
"manubot_success": true,
@@ -53944,6 +55436,43 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33588953"
},
+{
+ "id": "pmid:33558503",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33558503",
+ "title": "Variant-selective stereopure oligonucleotides protect against pathologies associated with C9orf72-repeat expansion in preclinical models.",
+ "type": "article-journal",
+ "doi": "10.1038/s41467-021-21112-8",
+ "authors": [
+ ["Yuanjing", "Liu"],
+ ["Jean-Cosme", "Dodart"],
+ ["Helene", "Tran"],
+ ["Shaunna", "Berkovitch"],
+ ["Maurine", "Braun"],
+ ["Michael", "Byrne"],
+ ["Ann F", "Durbin"],
+ ["Xiao Shelley", "Hu"],
+ ["Naoki", "Iwamoto"],
+ ["Hyun Gyung", "Jang"],
+ ["Pachamuthu", "Kandasamy"],
+ ["Fangjun", "Liu"],
+ ["Kenneth", "Longo"],
+ ["J\u00f6rg", "Ruschel"],
+ ["Juili", "Shelke"],
+ ["Hailin", "Yang"],
+ ["Yuan", "Yin"],
+ ["Amy", "Donner"],
+ ["Zhong", "Zhong"],
+ ["Chandra", "Vargeese"],
+ ["Robert H", "Brown"]
+ ],
+ "publisher": "Nature communications",
+ "issn": "2041-1723",
+ "date": "2021-02-08",
+ "abstract": "A large G",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33558503"
+},
{
"id": "pmid:33554115",
"manubot_success": true,
@@ -53980,6 +55509,49 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33554115"
},
+{
+ "id": "pmid:33482083",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33482083",
+ "title": "p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR).",
+ "type": "article-journal",
+ "doi": "10.1016/j.cell.2020.12.025",
+ "authors": [
+ ["Maya", "Maor-Nof"],
+ ["Zohar", "Shipony"],
+ ["Rodrigo", "Lopez-Gonzalez"],
+ ["Lisa", "Nakayama"],
+ ["Yong-Jie", "Zhang"],
+ ["Julien", "Couthouis"],
+ ["Jacob A", "Blum"],
+ ["Patricia A", "Castruita"],
+ ["Gabriel R", "Linares"],
+ ["Kai", "Ruan"],
+ ["Gokul", "Ramaswami"],
+ ["David J", "Simon"],
+ ["Aviv", "Nof"],
+ ["Manuel", "Santana"],
+ ["Kyuho", "Han"],
+ ["Nasa", "Sinnott-Armstrong"],
+ ["Michael C", "Bassik"],
+ ["Daniel H", "Geschwind"],
+ ["Marc", "Tessier-Lavigne"],
+ ["Laura D", "Attardi"],
+ ["Thomas E", "Lloyd"],
+ ["Justin K", "Ichida"],
+ ["Fen-Biao", "Gao"],
+ ["William J", "Greenleaf"],
+ ["Jennifer S", "Yokoyama"],
+ ["Leonard", "Petrucelli"],
+ ["Aaron D", "Gitler"]
+ ],
+ "publisher": "Cell",
+ "issn": "1097-4172",
+ "date": "2021-01-21",
+ "abstract": "The most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is a GGGGCC repeat expansion in the C9orf72 gene. We developed a platform to interrogate the chromatin accessibility landscape and transcriptional program within neurons during degeneration. We provide evidence that neurons expressing the dipeptide repeat protein poly(proline-arginine), translated from the C9orf72 repeat expansion, activate a highly specific transcriptional program, exemplified by a single transcription factor, p53. Ablating p53 in mice completely rescued neurons from degeneration and markedly increased survival in a C9orf72 mouse model. p53 reduction also rescued axonal degeneration caused by poly(glycine-arginine), increased survival of C9orf72 ALS/FTD-patient-induced pluripotent stem cell (iPSC)-derived motor neurons, and mitigated neurodegeneration in a C9orf72 fly model. We show that p53 activates a downstream transcriptional program, including Puma, which drives neurodegeneration. These data demonstrate a neurodegenerative mechanism dynamically regulated through transcription-factor-binding events and provide a framework to apply chromatin accessibility and transcription program profiles to neurodegeneration.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33482083"
+},
{
"id": "pmid:33431483",
"manubot_success": true,
@@ -54059,6 +55631,32 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33378537"
},
+{
+ "id": "pmid:33376800",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33376800",
+ "title": "Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease.",
+ "type": "article-journal",
+ "doi": "10.1212/nxg.0000000000000538",
+ "authors": [
+ ["Maria Del Mar", "Amador"],
+ ["Marcela", "Gargiulo"],
+ ["Christilla", "Boucher"],
+ ["Ariane", "Herson"],
+ ["St\u00e9phanie", "Staraci"],
+ ["Fran\u00e7ois", "Salachas"],
+ ["Fabienne", "Clot"],
+ ["C\u00e9cile", "Cazeneuve"],
+ ["Isabelle", "Le Ber"],
+ ["Alexandra", "Durr"]
+ ],
+ "publisher": "Neurology. Genetics",
+ "issn": "2376-7839",
+ "date": "2020-12-24",
+ "abstract": "We aimed to describe the population of subjects seeking presymptomatic counseling for amyotrophic lateral sclerosis and/or frontotemporal dementia (ALS/FTD) and compared them with those demanding the well-established presymptomatic test for Huntington disease (HD).",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33376800"
+},
{
"id": "pmid:33363944",
"manubot_success": true,
@@ -54129,6 +55727,26 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33300868"
},
+{
+ "id": "pmid:33253636",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33253636",
+ "title": "Molecular Dynamics Study of Structure, Folding, and Aggregation of Poly-PR and Poly-GR Proteins.",
+ "type": "article-journal",
+ "doi": "10.1016/j.bpj.2020.11.2258",
+ "authors": [
+ ["Size", "Zheng"],
+ ["Ali", "Sahimi"],
+ ["Katherine S", "Shing"],
+ ["Muhammad", "Sahimi"]
+ ],
+ "publisher": "Biophysical journal",
+ "issn": "1542-0086",
+ "date": "2020-11-28",
+ "abstract": "Poly-proline-arginine (poly-PR) and poly-glycine-arginine (poly-GR) proteins are believed to be the most toxic dipeptide repeat (DPR) proteins that are expressed by the hexanucleotide repeat expansion mutation in C9ORF72, which are associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) diseases. Their structural information and mechanisms of toxicity remain incomplete, however. Using molecular dynamics simulation and all-atom model of proteins, we study folding and aggregation of both poly-PR and poly-GR. The results indicate formation of double-helix structure during the aggregation of poly-PR into dimers, whereas no stable aggregate is formed during the aggregation of poly-GR; the latter only folds into \u03b1-helix and double-helix structures that are similar to those formed in the folding of poly-glycine-alanine (poly-GA) protein. Our findings are consistent with the experimental data indicating that poly-PR and poly-GR are less likely to aggregate because of the hydrophilic arginine residues within their structures. Such characteristics could, however, in some respect facilitate migration of the DPR proteins between and within cells and, at the same time, give proline residues the benefits of activating the receptors that regulate ionotropic effect in neurons, resulting in death or malfunction of neurons because of the abnormal increase or decrease of the ion transmission. This may explain the neurotoxicities of poly-PR and poly-GR associated with many neurodegenerative diseases. To our knowledge, this is the first molecular dynamics simulation of the phenomena involving poly-PR and poly-GR proteins.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33253636"
+},
{
"id": "pmid:33196168",
"manubot_success": true,
@@ -54460,6 +56078,34 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32949047"
},
+{
+ "id": "pmid:32921502",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/32921502",
+ "title": "No association of CpG SNP rs9357140 with onset age in Belgian C9orf72 repeat expansion carriers.",
+ "type": "article-journal",
+ "doi": "10.1016/j.neurobiolaging.2020.07.021",
+ "authors": [
+ ["Cemile", "Ko\u00e7o\u011flu"],
+ ["Helena", "Gossye"],
+ ["Lubina", "Dillen"],
+ ["Sara", "Van Mossevelde"],
+ ["Jan L", "De Bleecker"],
+ ["Rik", "Vandenberghe"],
+ ["Peter P", "De Deyn"],
+ ["Kristel", "Sleegers"],
+ ["Patrick", "Cras"],
+ ["Sebastiaan", "Engelborghs"],
+ ["Christine", "Van Broeckhoven"],
+ ["Julie", "van der Zee"]
+ ],
+ "publisher": "Neurobiology of aging",
+ "issn": "1558-1497",
+ "date": "2020-08-15",
+ "abstract": "We investigated the impact of the recently described chromosome 6 open reading frame 10 (C6orf10)/LOC101929163 locus as age-at-onset modifier in an extended cohort of Belgian chromosome 9 open reading frame 72 (C9orf72) G",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32921502"
+},
{
"id": "pmid:32894207",
"manubot_success": true,
@@ -58881,32 +60527,9 @@
},
{
"id": "pmid:30075745",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30075745",
- "title": "Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers.",
- "type": "article-journal",
- "doi": "10.1186/s40478-018-0579-0",
- "authors": [
- ["Petra", "Frick"],
- ["Chantal", "Sellier"],
- ["Ian R A", "Mackenzie"],
- ["Chieh-Yu", "Cheng"],
- ["Julie", "Tahraoui-Bories"],
- ["Cecile", "Martinat"],
- ["R Jeroen", "Pasterkamp"],
- ["Johannes", "Prudlo"],
- ["Dieter", "Edbauer"],
- ["Mustapha", "Oulad-Abdelghani"],
- ["Regina", "Feederle"],
- ["Nicolas", "Charlet-Berguerand"],
- ["Manuela", "Neumann"]
- ],
- "publisher": "Acta neuropathologica communications",
- "issn": "2051-5960",
- "date": "2018-08-03",
- "abstract": "Hexanucleotide repeat expansion in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis, but the pathogenic mechanism of this mutation remains unresolved. Haploinsufficiency has been proposed as one potential mechanism. However, insights if and how reduced C9orf72 proteins levels might contribute to disease pathogenesis are still limited because C9orf72 expression, localization and functions in the central nervous system (CNS) are uncertain, in part due to the poor specificity of currently available C9orf72 antibodies.Here, we generated and characterized novel knock-out validated monoclonal rat and mouse antibodies against C9orf72. We found that C9orf72 is a low abundant, cytoplasmic, highly soluble protein with the long 481 amino acid isoform being the predominant, if not exclusively, expressed protein isoform in mouse tissues and human brain. As consequence of the C9orf72 repeat expansion, C9orf72 protein levels in the cerebellum were reduced to 80% in our series of C9orf72 mutation carriers (n\u2009=\u200917) compared to controls (n\u2009=\u200926). However, no associations between cerebellar protein levels and clinical phenotypes were seen. Finally, by utilizing complementary immunohistochemical and biochemical approaches including analysis of human iPSC derived motor neurons, we identified C9orf72, in addition to its association to lysosomes, to be localized to the presynapses and able to interact with all members of the RAB3 protein family, suggestive of a role for C9orf72 in regulating synaptic vesicle functions by potentially acting as guanine nucleotide exchange factor for RAB3 proteins.In conclusion, our findings provide further evidence for haploinsufficiency as potential mechanism in C9orf72 pathogenesis by demonstrating reduced protein levels in C9orf72 mutation carriers and important novel insights into the physiological role of C9orf72 in the CNS. Moreover, the described novel monoclonal C9orf72 antibodies will be useful tools to further dissect the cellular and molecular functions of C9orf72.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30075745"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/30075745",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:30075745']' timed out after 3 seconds"
},
{
"id": "pmid:30023173",
@@ -62278,6 +63901,42 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27595458"
},
+{
+ "id": "pmid:27768896",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/27768896",
+ "title": "C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles.",
+ "type": "article-journal",
+ "doi": "10.1016/j.cell.2016.10.002",
+ "authors": [
+ ["Kyung-Ha", "Lee"],
+ ["Peipei", "Zhang"],
+ ["Hong Joo", "Kim"],
+ ["Diana M", "Mitrea"],
+ ["Mohona", "Sarkar"],
+ ["Brian D", "Freibaum"],
+ ["Jaclyn", "Cika"],
+ ["Maura", "Coughlin"],
+ ["James", "Messing"],
+ ["Amandine", "Molliex"],
+ ["Brian A", "Maxwell"],
+ ["Nam Chul", "Kim"],
+ ["Jamshid", "Temirov"],
+ ["Jennifer", "Moore"],
+ ["Regina-Maria", "Kolaitis"],
+ ["Timothy I", "Shaw"],
+ ["Bing", "Bai"],
+ ["Junmin", "Peng"],
+ ["Richard W", "Kriwacki"],
+ ["J Paul", "Taylor"]
+ ],
+ "publisher": "Cell",
+ "issn": "1097-4172",
+ "date": "2016-10-20",
+ "abstract": "Expansion of a hexanucleotide repeat GGGGCC (G",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27768896"
+},
{
"id": "pmid:27756805",
"manubot_success": true,
@@ -62461,6 +64120,42 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27666590"
},
+{
+ "id": "pmid:27663272",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/27663272",
+ "title": "C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis.",
+ "type": "article-journal",
+ "doi": "10.1136/jnnp-2016-314093",
+ "authors": [
+ ["James", "Rooney"],
+ ["Isabella", "Fogh"],
+ ["Henk-Jan", "Westeneng"],
+ ["Alice", "Vajda"],
+ ["Russell", "McLaughlin"],
+ ["Mark", "Heverin"],
+ ["Ashley", "Jones"],
+ ["Ruben", "van Eijk"],
+ ["Andrea", "Calvo"],
+ ["Letizia", "Mazzini"],
+ ["Christopher", "Shaw"],
+ ["Karen", "Morrison"],
+ ["Pamela J", "Shaw"],
+ ["Wim", "Robberecht"],
+ ["Phillip", "Van Damme"],
+ ["Ammar", "Al-Chalabi"],
+ ["Leonard", "van den Berg"],
+ ["Adriano", "Chi\u00f2"],
+ ["Jan", "Veldink"],
+ ["Orla", "Hardiman"]
+ ],
+ "publisher": "Journal of neurology, neurosurgery, and psychiatry",
+ "issn": "1468-330X",
+ "date": "2016-09-23",
+ "abstract": "The",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27663272"
+},
{
"id": "pmid:27652840",
"manubot_success": true,
@@ -62687,6 +64382,26 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27461252"
},
+{
+ "id": "pmid:27413586",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/27413586",
+ "title": "Amyotrophic Lateral Sclerosis with Frontotemporal Dementia in the Presence of C9orf72 Repeat Expansion-A Case Report.",
+ "type": "article-journal",
+ "doi": "",
+ "authors": [
+ ["Chaitanya", "Bonda"],
+ ["Murali K", "Kolikonda"],
+ ["Martin E", "Brown"],
+ ["Steven", "Lippmann"]
+ ],
+ "publisher": "Innovations in clinical neuroscience",
+ "issn": "2158-8333",
+ "date": "2016-02-01",
+ "abstract": "Amyotrophic lateral sclerosis and frontotemporal dementia are significant neurodegenerative illnesses with possible genetic predispositions. The C9orf72 gene and the GGGGCC repeat expansions of it are reported to have a causative role in the expression of these conditions. We report a case of a patient with autosomal dominant amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD) in the presence of C9orf72 repeat expansion. We believe our case further supports the theory that the presence of C9orf72 repeat expansion in patients with a family history of amyotrophic lateral sclerosis and/or frontotemporal dementia significantly increases their risk of developing either or both diseases. The development of antisense oligonucleotides that might target GGGGCC RNA sequences theoretically may have a therapeutic role in mitigating the clinical expression of these illnesses.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27413586"
+},
{
"id": "pmid:27388677",
"manubot_success": true,
@@ -62919,6 +64634,29 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27195002"
},
+{
+ "id": "pmid:27193190",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/27193190",
+ "title": "The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway.",
+ "type": "article-journal",
+ "doi": "10.1186/s40478-016-0324-5",
+ "authors": [
+ ["Peter M", "Sullivan"],
+ ["Xiaolai", "Zhou"],
+ ["Adam M", "Robins"],
+ ["Daniel H", "Paushter"],
+ ["Dongsung", "Kim"],
+ ["Marcus B", "Smolka"],
+ ["Fenghua", "Hu"]
+ ],
+ "publisher": "Acta neuropathologica communications",
+ "issn": "2051-5960",
+ "date": "2016-05-18",
+ "abstract": "Hexanucleotide repeat expansion in the C9orf72 gene is a leading cause of frontotemporal lobar degeneration (FTLD) with amyotrophic lateral sclerosis (ALS). Reduced expression of C9orf72 has been proposed as a possible disease mechanism. However, the cellular function of C9orf72 remains to be characterized. Here we report the identification of two binding partners of C9orf72: SMCR8 and WDR41. We show that WDR41 interacts with the C9orf72/SMCR8 heterodimer and WDR41 is tightly associated with the Golgi complex. We further demonstrate that C9orf72/SMCR8/WDR41 associates with the FIP200/Ulk1 complex, which is essential for autophagy initiation. C9orf72 deficient mice, generated using the CRISPR/Cas9 system, show severe inflammation in multiple organs, including lymph node, spleen and liver. Lymph node enlargement and severe splenomegaly are accompanied with macrophage infiltration. Increased levels of autophagy and lysosomal proteins and autophagy defects were detected in both the spleen and liver of C9orf72 deficient mice, supporting an in vivo role of C9orf72 in regulating the autophagy/lysosome pathway. In summary, our study elucidates potential physiological functions of C9orf72 and disease mechanisms of ALS/FTLD.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27193190"
+},
{
"id": "pmid:27151634",
"manubot_success": true,
@@ -63025,6 +64763,34 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27097283"
},
+{
+ "id": "pmid:27079381",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/27079381",
+ "title": "C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.",
+ "type": "article-journal",
+ "doi": "10.1186/s40478-016-0306-7",
+ "authors": [
+ ["Patrizia", "Rizzu"],
+ ["Cornelis", "Blauwendraat"],
+ ["Sasja", "Heetveld"],
+ ["Emily M", "Lynes"],
+ ["Melissa", "Castillo-Lizardo"],
+ ["Ashutosh", "Dhingra"],
+ ["Elwira", "Pyz"],
+ ["Markus", "Hobert"],
+ ["Matthis", "Synofzik"],
+ ["Javier", "Sim\u00f3n-S\u00e1nchez"],
+ ["Margherita", "Francescatto"],
+ ["Peter", "Heutink"]
+ ],
+ "publisher": "Acta neuropathologica communications",
+ "issn": "2051-5960",
+ "date": "2016-04-14",
+ "abstract": "A non-coding hexanucleotide repeat expansion (HRE) in C9orf72 is a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) acting through a loss of function mechanism due to haploinsufficiency of C9orf72 or a gain of function mediated by aggregates of bidirectionally transcribed HRE-RNAs translated into di-peptide repeat (DPR) proteins. To fully understand regulation of C9orf72 expression we surveyed the C9orf72 locus using Cap Analysis of Gene Expression sequence data (CAGEseq). We observed C9orf72 was generally lowly expressed with the exception of a subset of myeloid cells, particularly CD14+ monocytes that showed up to seven fold higher expression as compared to central nervous system (CNS) and other tissues. The expression profile at the C9orf72 locus showed a complex architecture with differential expression of the transcription start sites (TSSs) for the annotated C9orf72 transcripts between myeloid and CNS tissues suggesting cell and/or tissue specific functions. We further detected novel TSSs in both the sense and antisense strand at the C9orf72 locus and confirmed their existence in brain tissues and CD14+ monocytes. Interestingly, our experiments showed a consistent decrease of C9orf72 coding transcripts not only in brain tissue and monocytes from C9orf72-HRE patients, but also in brains from MAPT and GRN mutation carriers together with an increase in antisense transcripts suggesting these could play a role in regulation of C9orf72. We found that the non-HRE related expression changes cannot be explained by promoter methylation but by the presence of the C9orf72-HRE risk haplotype and unknown functional interactions between C9orf72, MAPT and GRN.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27079381"
+},
{
"id": "pmid:26998601",
"manubot_success": true,
@@ -63148,6 +64914,30 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26967212"
},
+{
+ "id": "pmid:26931465",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/26931465",
+ "title": "Poly-dipeptides encoded by the C9ORF72 repeats block global protein translation.",
+ "type": "article-journal",
+ "doi": "10.1093/hmg/ddw052",
+ "authors": [
+ ["Kohsuke", "Kanekura"],
+ ["Takuya", "Yagi"],
+ ["Alexander J", "Cammack"],
+ ["Jana", "Mahadevan"],
+ ["Masahiko", "Kuroda"],
+ ["Matthew B", "Harms"],
+ ["Timothy M", "Miller"],
+ ["Fumihiko", "Urano"]
+ ],
+ "publisher": "Human molecular genetics",
+ "issn": "1460-2083",
+ "date": "2016-02-29",
+ "abstract": "The expansion of the GGGGCC hexanucleotide repeat in the non-coding region of the Chromosome 9 open-reading frame 72 (C9orf72) gene is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). This genetic alteration leads to the accumulation of five types of poly-dipeptides translated from the GGGGCC hexanucleotide repeat. Among these, poly-proline-arginine (poly-PR) and poly-glycine-arginine (poly-GR) peptides are known to be neurotoxic. However, the mechanisms of neurotoxicity associated with these poly-dipeptides are not clear. A proteomics approach identified a number of interacting proteins with poly-PR peptide, including mRNA-binding proteins, ribosomal proteins, translation initiation factors and translation elongation factors. Immunostaining of brain sections from patients with C9orf72 ALS showed that poly-GR was colocalized with a mRNA-binding protein, hnRNPA1. In vitro translation assays showed that poly-PR and poly-GR peptides made insoluble complexes with mRNA, restrained the access of translation factors to mRNA, and blocked protein translation. Our results demonstrate that impaired protein translation mediated by poly-PR and poly-GR peptides plays a role in neurotoxicity and reveal that the pathways altered by the poly-dipeptides-mRNA complexes are potential therapeutic targets for treatment of C9orf72 FTD/ALS.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26931465"
+},
{
"id": "pmid:26925510",
"manubot_success": true,
@@ -71541,6 +73331,98 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22083254"
},
+{
+ "id": "pmid:21944779",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/21944779",
+ "title": "A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.",
+ "type": "article-journal",
+ "doi": "10.1016/j.neuron.2011.09.010",
+ "authors": [
+ ["Alan E", "Renton"],
+ ["Elisa", "Majounie"],
+ ["Adrian", "Waite"],
+ ["Javier", "Sim\u00f3n-S\u00e1nchez"],
+ ["Sara", "Rollinson"],
+ ["J Raphael", "Gibbs"],
+ ["Jennifer C", "Schymick"],
+ ["Hannu", "Laaksovirta"],
+ ["John C", "van Swieten"],
+ ["Liisa", "Myllykangas"],
+ ["Hannu", "Kalimo"],
+ ["Anders", "Paetau"],
+ ["Yevgeniya", "Abramzon"],
+ ["Anne M", "Remes"],
+ ["Alice", "Kaganovich"],
+ ["Sonja W", "Scholz"],
+ ["Jamie", "Duckworth"],
+ ["Jinhui", "Ding"],
+ ["Daniel W", "Harmer"],
+ ["Dena G", "Hernandez"],
+ ["Janel O", "Johnson"],
+ ["Kin", "Mok"],
+ ["Mina", "Ryten"],
+ ["Danyah", "Trabzuni"],
+ ["Rita J", "Guerreiro"],
+ ["Richard W", "Orrell"],
+ ["James", "Neal"],
+ ["Alex", "Murray"],
+ ["Justin", "Pearson"],
+ ["Iris E", "Jansen"],
+ ["David", "Sondervan"],
+ ["Harro", "Seelaar"],
+ ["Derek", "Blake"],
+ ["Kate", "Young"],
+ ["Nicola", "Halliwell"],
+ ["Janis Bennion", "Callister"],
+ ["Greg", "Toulson"],
+ ["Anna", "Richardson"],
+ ["Alex", "Gerhard"],
+ ["Julie", "Snowden"],
+ ["David", "Mann"],
+ ["David", "Neary"],
+ ["Michael A", "Nalls"],
+ ["Terhi", "Peuralinna"],
+ ["Lilja", "Jansson"],
+ ["Veli-Matti", "Isoviita"],
+ ["Anna-Lotta", "Kaivorinne"],
+ ["Maarit", "H\u00f6ltt\u00e4-Vuori"],
+ ["Elina", "Ikonen"],
+ ["Raimo", "Sulkava"],
+ ["Michael", "Benatar"],
+ ["Joanne", "Wuu"],
+ ["Adriano", "Chi\u00f2"],
+ ["Gabriella", "Restagno"],
+ ["Giuseppe", "Borghero"],
+ ["Mario", "Sabatelli"],
+ ["David", "Heckerman"],
+ ["Ekaterina", "Rogaeva"],
+ ["Lorne", "Zinman"],
+ ["Jeffrey D", "Rothstein"],
+ ["Michael", "Sendtner"],
+ ["Carsten", "Drepper"],
+ ["Evan E", "Eichler"],
+ ["Can", "Alkan"],
+ ["Ziedulla", "Abdullaev"],
+ ["Svetlana D", "Pack"],
+ ["Amalia", "Dutra"],
+ ["Evgenia", "Pak"],
+ ["John", "Hardy"],
+ ["Andrew", "Singleton"],
+ ["Nigel M", "Williams"],
+ ["Peter", "Heutink"],
+ ["Stuart", "Pickering-Brown"],
+ ["Huw R", "Morris"],
+ ["Pentti J", "Tienari"],
+ ["Bryan J", "Traynor"]
+ ],
+ "publisher": "Neuron",
+ "issn": "1097-4199",
+ "date": "2011-09-21",
+ "abstract": "The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases. We have previously shown that a founder haplotype, covering the MOBKL2b, IFNK, and C9ORF72 genes, is present in the majority of cases linked to this region. Here we show that there is a large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 on the affected haplotype. This repeat expansion segregates perfectly with disease in the Finnish population, underlying 46.0% of familial ALS and 21.1% of sporadic ALS in that population. Taken together with the D90A SOD1 mutation, 87% of familial ALS in Finland is now explained by a simple monogenic cause. The repeat expansion is also present in one-third of familial ALS cases of outbred European descent, making it the most common genetic cause of these fatal neurodegenerative diseases identified to date.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21944779"
+},
{
"id": "pmid:42038259",
"manubot_success": true,
@@ -71568,6 +73450,34 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42038259"
},
+{
+ "id": "pmid:40879304",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/40879304",
+ "title": "GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.",
+ "type": "article-journal",
+ "doi": "10.1002/mds.30328",
+ "authors": [
+ ["Elisabetta", "Indelicato"],
+ ["Zofia", "Fleszar"],
+ ["David", "Pellerin"],
+ ["Wolfgang", "Nachbauer"],
+ ["Stephan", "Zuchner"],
+ ["Andreas", "Trasch\u00fctz"],
+ ["Matthias", "Amprosi"],
+ ["Ludger", "Sch\u00f6ls"],
+ ["Tobias B", "Haack"],
+ ["Bernard", "Brais"],
+ ["Sylvia", "Boesch"],
+ ["Matthis", "Synofzik"]
+ ],
+ "publisher": "Movement disorders : official journal of the Movement Disorder Society",
+ "issn": "1531-8257",
+ "date": "2025-08-19",
+ "abstract": "An intronic (GAA)\u2022(TTC) repeat expansion in FGF14 was recently identified as the cause of spinocerebellar ataxia 27B (SCA27B), a disorder presenting with both chronic cerebellar ataxia and episodic symptoms. The phenotype of SCA27B overlaps with that of CACNA1A spectrum disorders.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40879304"
+},
{
"id": "pmid:40189664",
"manubot_success": true,
@@ -71588,6 +73498,62 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40189664"
},
+{
+ "id": "pmid:39152783",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39152783",
+ "title": "Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.",
+ "type": "article-journal",
+ "doi": "10.1111/ene.16441",
+ "authors": [
+ ["Xu-Ying", "Li"],
+ ["Hong", "Lai"],
+ ["Xian", "Li"],
+ ["Fanxi", "Xu"],
+ ["Yang", "Song"],
+ ["Zhanjun", "Wang"],
+ ["Qibin", "Li"],
+ ["Ruichai", "Lin"],
+ ["Zhiheng", "Xu"],
+ ["Chaodong", "Wang"]
+ ],
+ "publisher": "European journal of neurology",
+ "issn": "1468-1331",
+ "date": "2024-08-17",
+ "abstract": "Multiple system atrophy (MSA) is a progressive, adult-onset neurodegenerative disorder clinically characterized by combinations of autonomic failure, parkinsonism, cerebellar ataxia and pyramidal signs. Although a few genetic factors have been reported to contribute to the disease, its mutational profiles have not been systemically studied.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39152783"
+},
+{
+ "id": "pmid:37307504",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/37307504",
+ "title": "Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans.",
+ "type": "article-journal",
+ "doi": "10.1101/gr.277335.122",
+ "authors": [
+ ["Kohei", "Hamanaka"],
+ ["Daisuke", "Yamauchi"],
+ ["Eriko", "Koshimizu"],
+ ["Kei", "Watase"],
+ ["Kaoru", "Mogushi"],
+ ["Kinya", "Ishikawa"],
+ ["Hidehiro", "Mizusawa"],
+ ["Naomi", "Tsuchida"],
+ ["Yuri", "Uchiyama"],
+ ["Atsushi", "Fujita"],
+ ["Kazuharu", "Misawa"],
+ ["Takeshi", "Mizuguchi"],
+ ["Satoko", "Miyatake"],
+ ["Naomichi", "Matsumoto"]
+ ],
+ "publisher": "Genome research",
+ "issn": "1549-5469",
+ "date": "2023-03-27",
+ "abstract": "Tandem repeats (TRs) are one of the largest sources of polymorphism, and their length is associated with gene regulation. Although previous studies reported several tandem repeats regulating gene splicing in",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37307504"
+},
{
"id": "pmid:37301203",
"manubot_success": true,
@@ -71726,6 +73692,26 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34371182"
},
+{
+ "id": "pmid:33121221",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33121221",
+ "title": "New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia.",
+ "type": "article-journal",
+ "doi": "10.14802/jmd.20082",
+ "authors": [
+ ["Yannic", "Saathoff"],
+ ["Saskia", "Biskup"],
+ ["Claudia", "Funke"],
+ ["Christian", "Roth"]
+ ],
+ "publisher": "Journal of movement disorders",
+ "issn": "2005-940X",
+ "date": "2020-10-31",
+ "abstract": "The genetic testing of hereditary ataxias includes screening for CAG-repeat expansions as well as pathogenic variants and nontranslated oligonucleotide expansion, which can cause spinocerebellar ataxia (SCA). Genotype-phenotype correlations of several SCA subtypes are difficult to establish, and the underlying mechanisms remain unclear. Here, we report a 58-year-old male patient who presented with severe generalized ataxia, horizontal gaze-evoked nystagmus, cognitive impairment and a positive family history of gait difficulties. Genetic panel diagnostics revealed a new nonsense pathogenic variant in the CACNA1A gene (c.2983G>T; p. Glu995*) that segregated with the phenotype in three clinically affected family members. This gene is related to SCA type 6 (SCA6), episodic ataxia type 2, familial hemiplegic migraine type 1, among others. When it is supported by the clinical findings and family history, additional DNA sequencing beyond fragment length analysis should be performed.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33121221"
+},
{
"id": "pmid:32888184",
"manubot_success": true,
@@ -71805,6 +73791,29 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29367260"
},
+{
+ "id": "pmid:28946818",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/28946818",
+ "title": "Bicistronic CACNA1A Gene Expression in Neurons Derived from Spinocerebellar Ataxia Type 6 Patient-Induced Pluripotent Stem Cells.",
+ "type": "article-journal",
+ "doi": "10.1089/scd.2017.0085",
+ "authors": [
+ ["Carlo", "Bavassano"],
+ ["Andreas", "Eigentler"],
+ ["Ruslan", "Stanika"],
+ ["Gerald J", "Obermair"],
+ ["Sylvia", "Boesch"],
+ ["Georg", "Dechant"],
+ ["Roxana", "Nat"]
+ ],
+ "publisher": "Stem cells and development",
+ "issn": "1557-8534",
+ "date": "2017-10-30",
+ "abstract": "Spinocerebellar ataxia type 6 (SCA6) is an autosomal-dominant neurodegenerative disorder that is caused by a CAG trinucleotide repeat expansion in the CACNA1A gene. As one of the few bicistronic genes discovered in the human genome, CACNA1A encodes not only the \u03b11A subunit of the P/Q type voltage-gated Ca",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28946818"
+},
{
"id": "pmid:28131213",
"manubot_success": true,
@@ -72051,6 +74060,26 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26676458"
},
+{
+ "id": "pmid:21550405",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/21550405",
+ "title": "Splice isoform-specific suppression of the Cav2.1 variant underlying spinocerebellar ataxia type 6.",
+ "type": "article-journal",
+ "doi": "10.1016/j.nbd.2011.04.016",
+ "authors": [
+ ["Wei-Ling", "Tsou"],
+ ["Bing-Wen", "Soong"],
+ ["Henry L", "Paulson"],
+ ["Edgardo", "Rodr\u00edguez-Lebr\u00f3n"]
+ ],
+ "publisher": "Neurobiology of disease",
+ "issn": "1095-953X",
+ "date": "2011-04-29",
+ "abstract": "Spinocerebellar ataxia type 6 (SCA6) is an inherited neurodegenerative disease caused by a polyglutamine (polyQ) expansion in the Ca(V)2.1 voltage-gated calcium channel subunit (CACNA1A). There is currently no treatment for this debilitating disorder and thus a pressing need to develop preventative therapies. RNA interference (RNAi) has proven effective at halting disease progression in several models of spinocerebellar ataxia (SCA), including SCA types 1 and 3. However, in SCA6 and other dominantly inherited neurodegenerative disorders, RNAi-based strategies that selectively suppress expression of mutant alleles may be required. Using a Ca(V)2.1 mini-gene reporter system, we found that pathogenic CAG expansions in Ca(V)2.1 enhance splicing activity at the 3'end of the transcript, leading to a CAG repeat length-dependent increase in the levels of a polyQ-encoding Ca(V)2.1 mRNA splice isoform and the resultant disease protein. Taking advantage of this molecular phenomenon, we developed a novel splice isoform-specific (SIS)-RNAi strategy that selectively targets the polyQ-encoding Ca(V)2.1 splice variant. Selective suppression of transiently expressed and endogenous polyQ-encoding Ca(V)2.1 splice variants was achieved in a variety of cell-based models including a human neuronal cell line, using a new artificial miRNA-like delivery system. Moreover, the efficacy of gene silencing correlated with effective intracellular recognition and processing of SIS-RNAi miRNA mimics. These results lend support to the preclinical development of SIS-RNAi as a potential therapy for SCA6 and other dominantly inherited diseases.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21550405"
+},
{
"id": "pmid:19224313",
"manubot_success": true,
@@ -72217,6 +74246,27 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16396623"
},
+{
+ "id": "pmid:16310805",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/16310805",
+ "title": "Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case.",
+ "type": "article-journal",
+ "doi": "10.1016/j.jns.2005.10.004",
+ "authors": [
+ ["Suzanne Granh\u00f8j", "Lindquist"],
+ ["Anne", "N\u00f8rrem\u00f8lle"],
+ ["Lena Elisabeth", "Hjermind"],
+ ["Lis", "Hasholt"],
+ ["J\u00f8rgen Erik", "Nielsen"]
+ ],
+ "publisher": "Journal of the neurological sciences",
+ "issn": "0022-510X",
+ "date": "2005-11-28",
+ "abstract": "Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominantly inherited disorder characterized by cerebellar ataxia, dysarthria and nystagmus. The molecular background for the disorder is a CAG repeat expansion in the CACNA1A gene located on chromosome 19. The size of SCA6 expanded alleles is usually stable, and variation in repeat size over successive generations is rare. We report a Danish family with one case of SCA6 resembling a sporadic case of spinocerebellar ataxia. Analysis of the CACNA1A gene showed meiotic CAG repeat instability in the transmission from a 70-year-old woman with no subjective symptoms to her symptomatic son. The CAG repeat size expanded from 22 repeats in the mother to 23 repeats in the proband. This case demonstrates maternal repeat instability and clinical anticipation in a family with SCA6.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16310805"
+},
{
"id": "pmid:15875905",
"manubot_success": true,
@@ -72287,6 +74337,29 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12676347"
},
+{
+ "id": "pmid:11717352",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/11717352",
+ "title": "Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6.",
+ "type": "article-journal",
+ "doi": "10.1523/jneurosci.21-23-09185.2001",
+ "authors": [
+ ["E S", "Piedras-Renteria"],
+ ["K", "Watase"],
+ ["N", "Harata"],
+ ["O", "Zhuchenko"],
+ ["H Y", "Zoghbi"],
+ ["C C", "Lee"],
+ ["R W", "Tsien"]
+ ],
+ "publisher": "The Journal of neuroscience : the official journal of the Society for Neuroscience",
+ "issn": "1529-2401",
+ "date": "2001-12-01",
+ "abstract": "The expansion of polyglutamine tracts encoded by CAG trinucleotide repeats is a common mutational mechanism in inherited neurodegenerative diseases. Spinocerebellar ataxia type 6 (SCA6), an autosomal dominant, progressive disease, arises from trinucleotide repeat expansions present in the coding region of CACNA1A (chromosome 19p13). This gene encodes alpha(1A), the principal subunit of P/Q-type Ca(2+) channels, which are abundant in the CNS, particularly in cerebellar Purkinje and granule neurons. We assayed ion channel function by introduction of human alpha(1A) cDNAs in human embryonic kidney 293 cells that stably coexpressed beta(1) and alpha(2)delta subunits. Immunocytochemical analysis showed a rise in intracellular and surface expression of alpha(1A) protein when CAG repeat lengths reached or exceeded the pathogenic range for SCA6. This gain at the protein level was not a consequence of changes in RNA stability, as indicated by Northern blot analysis. The electrophysiological behavior of alpha(1A) subunits containing expanded (EXP) numbers of CAG repeats (23, 27, and 72) was compared against that of wild-type subunits (WT) (4 and 11 repeats) using standard whole-cell patch-clamp recording conditions. The EXP alpha(1A) subunits yielded functional ion channels that supported inward Ca(2+) channel currents, with a sharp increase in P/Q Ca(2+) channel current density relative to WT. Our results showed that Ca(2+) channels from SCA6 patients display near-normal biophysical properties but increased current density attributable to elevated protein expression at the cell surface.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11717352"
+},
{
"id": "pmid:11708993",
"manubot_success": true,
@@ -72312,6 +74385,30 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11708993"
},
+{
+ "id": "pmid:11355155",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/11355155",
+ "title": "Sporadic late onset paroxysmal cerebellar ataxia in four unrelated patients: a new disease?",
+ "type": "article-journal",
+ "doi": "10.1007/s004150170228",
+ "authors": [
+ ["J", "Julien"],
+ ["C", "Denier"],
+ ["X", "Ferrer"],
+ ["A", "Ducros"],
+ ["J", "Saintarailles"],
+ ["A", "Lagueny"],
+ ["E", "Tournier-Lasserve"],
+ ["C", "Vital"]
+ ],
+ "publisher": "Journal of neurology",
+ "issn": "0340-5354",
+ "date": "2001-03-01",
+ "abstract": "We describe a peculiar form of late onset paroxysmal cerebellar ataxia including clinical features similar to episodic ataxia type 2 (EA2) but unresponsive to acetazolamide. Four unrelated patients were clinically investigated. Neuropathological examination was performed in one patient and molecular analysis in all four. All 47 exons of CACNA1A were screened by a combination of single-strand conformer polymorphism and sequencing analysis in three patients. In addition, the length of the CAG repeat was determined in all four patients. The four patients were in their 60s at the onset of the disease, which was characterized by cerebellar ataxia attacks lasting from a few minutes to 1-2 h and occurring mainly in the morning. In the interictal period a nystagmus was present together with a slowly progressive cerebellar ataxia over the years. The neuropathological examination disclosed a dramatic loss of Purkinje cells mainly in the vermis. Moreover, certain cerebellar granular neurons had a strong cytoplasmic staining at immunopathological examination with an anti-tau protein serum. Search for truncating mutations or CAG repeat expansion in CACNA1A was negative. This late-onset paroxysmal cerebellar ataxia with neuropathological lesions restricted to Purkinje cells and with negative results both for truncating mutations and CAG expansion in the CACNA1A gene represents a new entity. Further studies are needed to delineate the underlying process.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11355155"
+},
{
"id": "pmid:11341481",
"manubot_success": true,
@@ -72366,6 +74463,50 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11311290"
},
+{
+ "id": "pmid:11176970",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/11176970",
+ "title": "Metabolic characterization of spinocerebellar ataxia type 6.",
+ "type": "article-journal",
+ "doi": "10.1001/archneur.58.2.300",
+ "authors": [
+ ["B", "Soong"],
+ ["R", "Liu"],
+ ["L", "Wu"],
+ ["Y", "Lu"],
+ ["H", "Lee"]
+ ],
+ "publisher": "Archives of neurology",
+ "issn": "0003-9942",
+ "date": "2001-02-01",
+ "abstract": "Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disorder characterized by slowly progressive ataxia and dysarthria. The mutational basis is an expanded CAG repeat sequence within the coding regions of the CACNL1A4 gene. Basic clinical, neuroimaging, and pathological, and epidemiological features have been described in the literature. However, the metabolic features of SCA6 have not been elucidated.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11176970"
+},
+{
+ "id": "pmid:11081813",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/11081813",
+ "title": "Nineteen CAG repeats of the SCA6 gene in a Japanese patient presenting with ataxia.",
+ "type": "article-journal",
+ "doi": "10.1007/s004150070117",
+ "authors": [
+ ["T", "Katayama"],
+ ["Y", "Ogura"],
+ ["H", "Aizawa"],
+ ["H", "Kuroda"],
+ ["Y", "Suzuki"],
+ ["K", "Kuroda"],
+ ["K", "Kikuchi"]
+ ],
+ "publisher": "Journal of neurology",
+ "issn": "0340-5354",
+ "date": "2000-09-01",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11081813"
+},
{
"id": "pmid:10985694",
"manubot_success": true,
@@ -72506,6 +74647,37 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10442462"
},
+{
+ "id": "pmid:10369863",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/10369863",
+ "title": "Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6.",
+ "type": "article-journal",
+ "doi": "10.1093/hmg/8.7.1185",
+ "authors": [
+ ["K", "Ishikawa"],
+ ["H", "Fujigasaki"],
+ ["H", "Saegusa"],
+ ["K", "Ohwada"],
+ ["T", "Fujita"],
+ ["H", "Iwamoto"],
+ ["Y", "Komatsuzaki"],
+ ["S", "Toru"],
+ ["H", "Toriyama"],
+ ["M", "Watanabe"],
+ ["N", "Ohkoshi"],
+ ["S", "Shoji"],
+ ["I", "Kanazawa"],
+ ["T", "Tanabe"],
+ ["H", "Mizusawa"]
+ ],
+ "publisher": "Human molecular genetics",
+ "issn": "0964-6906",
+ "date": "1999-07-01",
+ "abstract": "Spinocerebellar ataxia type 6 (SCA6) is one of the eight neurodegenerative diseases caused by a tri-nucleotide (CAG) repeat expansion coding polyglutamine (CAG repeat/polyglutamine diseases) and is characterized by late onset autosomal dominant cerebellar ataxia and predominant loss of cerebellar Purkinje cells. Although the causative, small and stable CAG repeat expansion for this disease has been identified in the [alpha]1A voltage-dependent calcium channel gene (CACNA1A), the mechanism which leads to predominant Purkinje cell degeneration is totally unknown. In this study, we show that the calcium channel mRNA/protein containing the CAG repeat/polyglutamine tract is most intensely expressed in Purkinje cells of human brains. In SCA6 brains, numerous oval or rod-shaped aggregates were seen exclusively in the cytoplasm of Purkinje cells. These cytoplasmic inclusions were not ubiquitinated, which contrasts with the neuronal intra-nuclear inclusions of other CAG repeat/polyglutamine diseases. In cultured cells, formation of perinuclear aggregates of the channel protein and apoptotic cell death were seen when transfected with full-length CACNA1A coding an expanded polyglutamine tract. The present study indicates that the mechanism of neurodegeneration in SCA6 is associated with cytoplasmic aggregations of the [alpha]1A calcium channel protein caused by a small CAG repeat/polyglutamine expansion in CACNA1A.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10369863"
+},
{
"id": "pmid:10369828",
"manubot_success": true,
@@ -72537,6 +74709,58 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10369828"
},
+{
+ "id": "pmid:10366652",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/10366652",
+ "title": "Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6.",
+ "type": "article-journal",
+ "doi": "10.1523/jneurosci.19-12-j0004.1999",
+ "authors": [
+ ["Z", "Matsuyama"],
+ ["M", "Wakamori"],
+ ["Y", "Mori"],
+ ["H", "Kawakami"],
+ ["S", "Nakamura"],
+ ["K", "Imoto"]
+ ],
+ "publisher": "The Journal of neuroscience : the official journal of the Society for Neuroscience",
+ "issn": "1529-2401",
+ "date": "1999-06-15",
+ "abstract": "Spinocerebellar ataxia 6 (SCA6) is caused by expansion of a polyglutamine stretch, encoded by a CAG trinucleotide repeat, in the human P/Q-type Ca(2+) channel alpha(1A) subunit. Although SCA6 shares common features with other neurodegenerative glutamine repeat disorders, the polyglutamine repeats in SCA6 are exceptionally small, ranging from 21 to 33. Because this size is too small to form insoluble aggregates that have been blamed for the cause of neurodegeneration, SCA6 is the disorder suitable for exploring the pathogenic mechanisms other than aggregate formation, whose universal role has been questioned. To characterize the pathogenic process of SCA6, we studied the effects of polyglutamine expansion on channel properties by analyzing currents flowing through the P/Q-type Ca(2+) channels with an expanded stretch of 24, 30, or 40 polyglutamines, recombinantly expressed in baby hamster kidney cells. Whereas the Ca(2+) channels with A transposition in one allele, at nucleotide 1152, resulting in a predicted glycine-to-arginine substitution at codon 293. The CAG-repeat expansion associated with spinocerebellar ataxia 6 was not present in any family members. This family is unique in having a non-CAG-repeat mutation that leads to severe progressive ataxia. Since a great deal is known about the function of calcium channels, we speculate on how this missense mutation leads to the combination of clinical symptoms and signs.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9345107"
+},
{
"id": "pmid:9302278",
"manubot_success": true,
@@ -72747,6 +74991,40 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9302278"
},
+{
+ "id": "pmid:9311738",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/9311738",
+ "title": "Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1.",
+ "type": "article-journal",
+ "doi": "10.1086/514867",
+ "authors": [
+ ["K", "Ishikawa"],
+ ["H", "Tanaka"],
+ ["M", "Saito"],
+ ["N", "Ohkoshi"],
+ ["T", "Fujita"],
+ ["K", "Yoshizawa"],
+ ["T", "Ikeuchi"],
+ ["M", "Watanabe"],
+ ["A", "Hayashi"],
+ ["Y", "Takiyama"],
+ ["M", "Nishizawa"],
+ ["I", "Nakano"],
+ ["K", "Matsubayashi"],
+ ["M", "Miwa"],
+ ["S", "Shoji"],
+ ["I", "Kanazawa"],
+ ["S", "Tsuji"],
+ ["H", "Mizusawa"]
+ ],
+ "publisher": "American journal of human genetics",
+ "issn": "0002-9297",
+ "date": "1997-08-01",
+ "abstract": "Autosomal dominant cerebellar ataxia is a group of clinically and genetically heterogeneous disorders. We carried out genomewide linkage analysis in 15 families with autosomal dominant pure cerebellar ataxia (ADPCA). Evidence for linkage to chromosome 19p markers was found in nine families, and combined multipoint analysis refined the candidate region to a 13.3-cM interval in 19p13.1-p13.2. The remaining six families were excluded for this region. Analysis of CAG-repeat expansion in the alpha1A-voltage-dependent calcium channel (CACNL1A4) gene lying in 19p13.1, recently identified among 8 small American kindreds with ADPCA (spinocerebellar ataxia type 6 [SCA6]), revealed that 8 of the 15 families studied had similar, very small expansion in this gene: all affected individuals had larger alleles (range of CAG repeats 21-25), compared with alleles observed in neurologically normal Japanese (range 5-20 repeats). Inverse correlation between the CAG-repeat number and the age at onset was found in affected individuals with expansion. The number of CAG repeats in expanded chromosomes was completely stable within each family, which was consistent with the fact that anticipation was not statistically proved in the SCA6 families that we studied. We conclude that more than half of Japanese cases of ADPCA map to 19p13.1-p13.2 and are strongly associated with the mild CAG expansion in the SCA6/CACNL1A4 gene.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9311738"
+},
{
"id": "pmid:9259274",
"manubot_success": true,
@@ -72774,6 +75052,32 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9259274"
},
+{
+ "id": "pmid:9043864",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/9043864",
+ "title": "A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group.",
+ "type": "article-journal",
+ "doi": "",
+ "authors": [
+ ["R A", "Ophoff"],
+ ["G M", "Terwindt"],
+ ["M N", "Vergouwe"],
+ ["R", "van Eijk"],
+ ["H", "Mohrenweiser"],
+ ["M", "Litt"],
+ ["M H", "Hofker"],
+ ["J", "Haan"],
+ ["M D", "Ferrari"],
+ ["R R", "Frants"]
+ ],
+ "publisher": "European journal of human genetics : EJHG",
+ "issn": "1018-4813",
+ "date": "1996-01-01",
+ "abstract": "Familial hemiplegic migraine (FHM) is an autosomal domianant subtype of migraine with attacks, associated with transient episodes of hemiparesis. One of the genes for FHM has been assigned to chromosome 19p13. Detailed analysis of critical recombinants from two different chromosome 19-linked FHM families, using new markers indicated a 6-cM candidate region on 19p13.1-p13.2 flanked by loci D19S394 and D19S226. Another paroxysmal neurological disorder, episodic ataxia type 2 (EA-2), has also been linked to the same chromosomal region. Most of the interval was completely covered by YAC and cosmid contigs; the physical map yielded approximately 3 Mb encompassing several genes including the protein kinase substrate 80K-H (PRKCSH) gene. Since PRKCSH is involved in neuronal signal transduction, it was considered to be an FHM candidate gene. The genomic structure of this gene was established and mutation analysis for all exon and flanking intron sequences was performed in FHM- and EA-2-affected individuals. Five polymorphisms were identified, including a trinucleotide repeat length variation in the coding sequence. However, no potential disease causing mutation was found and therefore the PRKCSH gene can be excluded for both FHM and EA-2.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9043864"
+},
{
"id": "pmid:41964119",
"manubot_success": true,
@@ -72897,6 +75201,712 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16474167"
},
+{
+ "id": "pmid:41894686",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41894686",
+ "title": "Dexamethasone prophylaxis for excessive lymphocyte expansion after cilta-cel in multiple myeloma.",
+ "type": "article-journal",
+ "doi": "10.1182/bloodadvances.2025018639",
+ "authors": [
+ ["Peter A", "Forsberg"],
+ ["Jacqueline A", "Turner"],
+ ["Marita", "Meyer"],
+ ["Diana", "Abbott"],
+ ["Sara", "Nicholson"],
+ ["Henning", "Schade"],
+ ["Jeffrey", "Matous"],
+ ["Tara", "Gregory"]
+ ],
+ "publisher": "Blood advances",
+ "issn": "2473-9537",
+ "date": "2026-05-26",
+ "abstract": "Increased absolute lymphocyte count (ALC) may predict risk of treatment-related mortality and atypical neurologic events among patients receiving chimeric antigen receptor (CAR) T-cell therapies for relapsed/refractory multiple myeloma. In this study, we analyzed the clinical outcomes of patients receiving ciltacabtagene autoleucel (cilta-cel) at the Colorado Blood Cancer Institute, from September 2023 to January 2025. Baseline data were collected pre/post-CAR T-cell therapy. Patients were stratified into preintervention (treated September 2023 to July 2024) and intervention (treated August 2024 to January 2025; those with ALC >5 \u00d7 103/\u03bcL received 3 days of dexamethasone prophylaxis on first identification of elevated ALC). In the preintervention group, 9 of 30 patients had peak ALC >5 \u00d7 103/\u03bcL; 5 of 9 (55.6%) experienced atypical neurologic events and all 5 died (cilta-cel therapy-related complications). In the intervention group, 7 of 23 patients had peak ALC >5 \u00d7 103/\u03bcL and received dexamethasone; 1 of 7 had an atypical neurologic event; and 1 death occured (infectious complication, 9 months posttreatment). Dexamethasone prophylaxis in patients with ALC of >5 \u00d7 103/\u03bcL resulted in rapid ALC reduction. Overall survival (OS) was significantly lower in preintervention patients with ALC of >5 \u00d7 103/\u03bcL vs intervention patients with ALC of >5 \u00d7 103/\u03bcL and patients with ALC of \u22645 \u00d7 103/\u03bcL (P = .0013). ALC >5 \u00d7 103/\u03bcL (vs ALC \u2264 5 \u00d7 103/\u03bcL) was significantly associated with atypical neurologic events (odds ratio, 6.8; P = .0157) and lower OS (hazard ratio, 6.2; P = .0106). In conclusion, ALC >5 \u00d7 103/\u03bcL after cilta-cel treatment predicted severe early neurologic events and high mortality risk. Dexamethasone prophylaxis demonstrated promise for risk mitigation.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41894686"
+},
+{
+ "id": "pmid:41057236",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41057236",
+ "title": "Routine Monitoring of CAR-T-Cells Expansion and Persistence in Patients With Aggressive Large B-Cell Lymphoma by Flow Cytometry: A Single-Center Experience.",
+ "type": "article-journal",
+ "doi": "10.1002/hon.70139",
+ "authors": [
+ ["Alexandra", "Zduniak"],
+ ["J\u00e9r\u00e9mie", "Martinet"],
+ ["Emilie", "L\u00e9v\u00eaque"],
+ ["St\u00e9phanie", "Becker"],
+ ["David", "Tonnelet"],
+ ["Elodie Dos", "Santos"],
+ ["Claire", "Leroy"],
+ ["Mustafa", "Alani"],
+ ["Jean", "Rouvet"],
+ ["Marine", "Brousseau"],
+ ["Camille", "Giverne"],
+ ["Alexis", "Cuffel"],
+ ["Serge", "Jacquot"],
+ ["Arnaud", "Roucheux"],
+ ["Alice", "Veuiller"],
+ ["Nicolas", "Lecornu"],
+ ["Misa Eugene", "Norbert"],
+ ["Olivier", "Boyer"],
+ ["Herv\u00e9", "Tilly"],
+ ["Fabrice", "Jardin"],
+ ["Jean-Baptiste", "Latouche"],
+ ["Vincent", "Camus"]
+ ],
+ "publisher": "Hematological oncology",
+ "issn": "1099-1069",
+ "date": "2025-11-01",
+ "abstract": "This retrospective, single-center study evaluated routine flow cytometry (FC) monitoring of CAR-T-cells in 45 patients with aggressive large B-cell lymphoma (LBCL). CAR-T-cells expansion was assessed from Day 0 to Month 12. Peak expansion occurred on Day 7 after axi-cel (median 39.3% of total lymphocytes; 87 cells/mm",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41057236"
+},
+{
+ "id": "pmid:40840513",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/40840513",
+ "title": "Early-onset diabetes with low utilization of lipid as an energy source carrying a rare missense mutation in the CEL gene.",
+ "type": "article-journal",
+ "doi": "10.1530/edm-24-0151",
+ "authors": [
+ ["Ayana", "Fujii"],
+ ["Hiroko", "Nakabayashi"],
+ ["Yuko", "Nagao"],
+ ["Masaru", "Akiyama"],
+ ["Akihiko", "Taguchi"],
+ ["Kaito", "Yorimoto"],
+ ["Risako", "Hamada"],
+ ["Issei", "Saeki"],
+ ["Naoki", "Yamamoto"],
+ ["Taro", "Takami"],
+ ["Kenji", "Watanabe"],
+ ["Yoichi", "Mizukami"],
+ ["Yasuharu", "Ohta"]
+ ],
+ "publisher": "Endocrinology, diabetes & metabolism case reports",
+ "issn": "2052-0573",
+ "date": "2025-08-18",
+ "abstract": "Carboxyl ester lipase (CEL) is a major component of pancreatic juice and is responsible for the duodenal hydrolysis of cholesteryl esters. Maturity-onset diabetes of the young (MODY) is a form of diabetes mellitus characterized by early onset and dominant inheritance of beta-cell dysfunction. CEL gene mutations cause the type of MODY denoted as MODY8. Herein, we describe a Japanese patient who harbored a heterozygous A689P mutation in the variable number of tandem repeats (VNTRs)-containing exon 11 of the CEL gene. The patient was not obese and his diabetes was characterized by onset in late adolescence, impaired insulin secretion and metabolic dysfunction-associated steatotic liver disease (MASLD). The C-terminal region of CEL has been postulated to be critical for its secretion and activity. Therefore, the A689P mutation may cause pancreatic exocrine insufficiency and eventually contribute to MASLD, which is associated with reduced lipid catabolism. MODY8 is also considered to be a protein-misfolding disease because a heterozygous single nucleotide deletion causes the production of mutant CEL protein leading to diabetes and exocrine dysfunction. In the present case, MASLD and diabetes characterized by impaired insulin secretion were observed. The CEL A689P missense mutation will expand the known genotype-phenotype correlation in diabetes if it can be demonstrated that the variant is pathogenic.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40840513"
+},
+{
+ "id": "pmid:40641008",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/40641008",
+ "title": "Characterizing Cellular Expansion of Idecabtagene Vicleucel and Association with Clinical Efficacy and Safety in Patients with Triple-Class-Exposed Relapsed/Refractory Multiple Myeloma.",
+ "type": "article-journal",
+ "doi": "10.1002/jcph.70075",
+ "authors": [
+ ["Fan", "Wu"],
+ ["Xirong", "Zheng"],
+ ["Joseph", "Burnett"],
+ ["Madhan", "Masilamani"],
+ ["Wanying", "Zhang"],
+ ["Xiaobo", "Zhong"],
+ ["Andrea", "Caia"],
+ ["Mark", "Cook"],
+ ["Julia", "Piasecki"],
+ ["Anna", "Kondic"],
+ ["Manisha", "Lamba"],
+ ["Jian", "Zhou"]
+ ],
+ "publisher": "Journal of clinical pharmacology",
+ "issn": "1552-4604",
+ "date": "2025-07-10",
+ "abstract": "Idecabtagene vicleucel (ide-cel, ABECMA) is an autologous, B-cell maturation antigen-directed, chimeric antigen receptor (CAR) T-cell therapy, which has demonstrated significantly improved progression-free survival (PFS) and overall response rate (ORR) in patients with triple-class-exposed relapsed/refractory multiple myeloma (TCE RRMM). Here, we characterize cellular expansion of ide-cel in vivo and further evaluate associations between cellular expansion and clinical efficacy and safety endpoints. The exposure parameters of ide-cel were evaluated through non-compartmental analysis methods using the time course data of CAR transgene copy numbers collected from the ide-cel arm of Study KarMMa-3 (NCT03651128). Multivariable regression analyses were conducted between the exposure parameters and clinical responses to characterize relationships between cellular expansion in vivo and clinical outcomes and to evaluate potential effects of covariates on the exposure-response (E-R) relationships. There appears to be lack of a strong association between actual ide-cel dose and cellular expansion at the dose range evaluated in Study KarMMa-3. The multivariable E-R regression models suggest positive relationships between cellular expansion and clinical efficacy and safety endpoints, with higher exposure associated with longer PFS, higher ORR, and higher rates of cytokine release syndrome requiring tocilizumab or corticosteroids. The current analyses do not identify any clinically relevant covariate effects on the E-R relationships. The positive exposure-response relationships were found to be overall similar between KarMMa-3 and a previous study KarMMa. The modeling analyses, paired with clinical data, support extending the dose range from previously approved 300-460 \u00d7 10",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40641008"
+},
+{
+ "id": "pmid:39710966",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39710966",
+ "title": "Brexucabtagene autoleucel in-vivo expansion and BTKi refractoriness have a negative influence on progression-free survival in mantle cell lymphoma: Results from CART-SIE study.",
+ "type": "article-journal",
+ "doi": "10.1111/bjh.19961",
+ "authors": [
+ ["Federico", "Stella"],
+ ["Annalisa", "Chiappella"],
+ ["Martina", "Magni"],
+ ["Francesca", "Bonifazi"],
+ ["Chiara", "De Philippis"],
+ ["Maurizio", "Musso"],
+ ["Ilaria", "Cutini"],
+ ["Silva", "Ljevar"],
+ ["Anna Maria", "Barbui"],
+ ["Mirko", "Farina"],
+ ["Massimo", "Martino"],
+ ["Massimo", "Massaia"],
+ ["Giovanni", "Grillo"],
+ ["Piera", "Angelillo"],
+ ["Barbara", "Botto"],
+ ["Francesca", "Patriarca"],
+ ["Mauro", "Krampera"],
+ ["Luca", "Arcaini"],
+ ["Maria Chiara", "Tisi"],
+ ["Pierluigi", "Zinzani"],
+ ["Federica", "Sor\u00e0"],
+ ["Stefania", "Bramanti"],
+ ["Martina", "Pennisi"],
+ ["Cristiana", "Carniti"],
+ ["Paolo", "Corradini"]
+ ],
+ "publisher": "British journal of haematology",
+ "issn": "1365-2141",
+ "date": "2024-12-22",
+ "abstract": "Brexucabtagene autoleucel (brexu-cel) has revolutionized the treatment of patients affected by mantle cell lymphomas. In this prospective, observational multicentre study, we evaluated 106 patients, with longitudinal brexu-cel kinetics in peripheral blood monitored in 61 of them. Clinical outcomes and toxicities are consistent with previous real-world evidence studies. Notably, beyond established poor prognostic factors-such as blastoid variant and elevated lactate dehydrogenase-Bruton tyrosine-kinase inhibitors (BTKi) refractoriness and platelet count emerged as significant predictors of survival. Specifically, the 1-year overall survival was 56% in BTKi-refractory patients compared to 92% in BTKi-relapsed patients (p\u2009=\u20090.0001). Our study also demonstrated that in-vivo monitoring of brexu-cel expansion is feasible and correlates with progression-free survival and toxicities. Progression-free survival at 1\u2009year was 74% in patients categorized as strong expanders, based on brexu-cel peak concentration, versus 54% in poor expanders (p\u2009=\u20090.02). Furthermore, in-vivo expansion helped identify a high-risk group of non-responders, those with progressive or stable disease at the 90-day post-infusion evaluation (OR\u2009=\u20094.7, 95% CI\u2009=\u20091.1-34, p\u2009=\u20090.04) characterized by dismal outcomes. When integrated with other clinical factors, monitoring brexu-cel expansion could assist in recognizing patients at high risk of early relapse.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39710966"
+},
+{
+ "id": "pmid:38483348",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/38483348",
+ "title": "Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas.",
+ "type": "article-journal",
+ "doi": "10.1093/hmg/ddae034",
+ "authors": [
+ ["Ranveig S", "Brekke"],
+ ["Anny", "Gravdal"],
+ ["Khadija", "El Jellas"],
+ ["Grace E", "Curry"],
+ ["Jianguo", "Lin"],
+ ["Steven J", "Wilhelm"],
+ ["Solrun J", "Steine"],
+ ["Eric", "Mas"],
+ ["Stefan", "Johansson"],
+ ["Mark E", "Lowe"],
+ ["Bente B", "Johansson"],
+ ["Xunjun", "Xiao"],
+ ["Karianne", "Fjeld"],
+ ["Anders", "Molven"]
+ ],
+ "publisher": "Human molecular genetics",
+ "issn": "1460-2083",
+ "date": "2024-05-18",
+ "abstract": "The CEL gene encodes carboxyl ester lipase, a pancreatic digestive enzyme. CEL is extremely polymorphic due to a variable number tandem repeat (VNTR) located in the last exon. Single-base deletions within this VNTR cause the inherited disorder MODY8, whereas little is known about VNTR single-base insertions in pancreatic disease. We therefore mapped CEL insertion variants (CEL-INS) in 200 Norwegian patients with pancreatic neoplastic disorders. Twenty-eight samples (14.0%) carried CEL-INS alleles. Most common were insertions in repeat 9 (9.5%), which always associated with a VNTR length of 13 repeats. The combined INS allele frequency (0.078) was similar to that observed in a control material of 416 subjects (0.075). We performed functional testing in HEK293T cells of a set of CEL-INS variants, in which the insertion site varied from the first to the 12th VNTR repeat. Lipase activity showed little difference among the variants. However, CEL-INS variants with insertions occurring in the most proximal repeats led to protein aggregation and endoplasmic reticulum stress, which upregulated the unfolded protein response. Moreover, by using a CEL-INS-specific antibody, we observed patchy signals in pancreatic tissue from humans without any CEL-INS variant in the germline. Similar pancreatic staining was seen in knock-in mice expressing the most common human CEL VNTR with 16 repeats. CEL-INS proteins may therefore be constantly produced from somatic events in the normal pancreatic parenchyma. This observation along with the high population frequency of CEL-INS alleles strongly suggests that these variants are benign, with a possible exception for insertions in VNTR repeats 1-4.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38483348"
+},
+{
+ "id": "pmid:38473919",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/38473919",
+ "title": "Unlocking Predictive Power: Quantitative Assessment of CAR-T Expansion with Digital Droplet Polymerase Chain Reaction (ddPCR).",
+ "type": "article-journal",
+ "doi": "10.3390/ijms25052673",
+ "authors": [
+ ["Eugenio", "Galli"],
+ ["Marcello", "Viscovo"],
+ ["Federica", "Fosso"],
+ ["Ilaria", "Pansini"],
+ ["Giacomo", "Di Cesare"],
+ ["Camilla", "Iacovelli"],
+ ["Elena", "Maiolo"],
+ ["Federica", "Sor\u00e0"],
+ ["Stefan", "Hohaus"],
+ ["Simona", "Sica"],
+ ["Silvia", "Bellesi"],
+ ["Patrizia", "Chiusolo"]
+ ],
+ "publisher": "International journal of molecular sciences",
+ "issn": "1422-0067",
+ "date": "2024-02-26",
+ "abstract": "Flow cytometry (FCM) and quantitative PCR (qPCR) are conventional methods for assessing CAR-T expansion, while digital droplet PCR (ddPCR) is emerging as a promising alternative. We monitored CAR-T transcript expansion in 40 B-NHL patients post-infusion of CAR-T products (axi-cel; tisa-cel; and brexu-cel) with both His-Tag FCM and ddPCR techniques. Sensitivity and predictive capacity for efficacy and safety outcomes of ddPCR were analyzed and compared with FCM. A significant correlation between CAR-T counts determined by FCM and CAR transcripts assessed by ddPCR (",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38473919"
+},
+{
+ "id": "pmid:38458477",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/38458477",
+ "title": "Early Chimeric Antigen Receptor T Cell Expansion Is Associated with Prolonged Progression-Free Survival for Patients with Relapsed/Refractory Multiple Myeloma Treated with Ide-Cel: A Retrospective Monocentric Study.",
+ "type": "article-journal",
+ "doi": "10.1016/j.jtct.2024.03.003",
+ "authors": [
+ ["Leo", "Caillot"],
+ ["Emmanuel", "Sleiman"],
+ ["Ingrid", "Lafon"],
+ ["Marie-Lorraine", "Chretien"],
+ ["Pauline", "Gueneau"],
+ ["Alexandre", "Payssot"],
+ ["Romain", "Pedri"],
+ ["Daniela", "Lakomy"],
+ ["Fran\u00e7ois", "Bailly"],
+ ["Julien", "Guy"],
+ ["Jean-Pierre", "Quenot"],
+ ["Herve", "Avet-Loiseau"],
+ ["Denis", "Caillot"]
+ ],
+ "publisher": "Transplantation and cellular therapy",
+ "issn": "2666-6367",
+ "date": "2024-03-07",
+ "abstract": "The outcomes of patients with relapsed and refractory multiple myeloma (RRMM) previously treated with the 3 main classes of myeloma therapy-immunomodulatory drugs, proteasome inhibitors, and anti-CD38 antibodies-remain poor. Recently, based on the phase II pivotal KarMMa trial showing prolonged overall survival (OS) and progression-free survival (PFS) in heavily treated patients, idecabtagene vicleucel (ide-cel), a B cell maturation antigen (BCMA)-directed chimeric antigen receptor (CAR) T cell therapy (CAR-T) product, was approved in the United States for the treatment of RRMM. In France, since June 2021, an early access program has authorized the use of ide-cel in the setting of RRMM (defined as progressive myeloma after at least 3 previous regimens, including the 3 main antimyeloma therapies). We report the first French experience through this early access program in a retrospective study of 24 consecutive patients treated with ide-cel at our institution. The patients were evaluated according to International Myeloma Working Group criteria and by positron emission tomography computed tomography (PET-CT) at 1, 3, 6, 9, and 12 months after ide-cel infusion. Most patients had adverse cytogenetic abnormalities, and RRMM with triple-refractory drugs were seen in 79%. Bridging therapy was required for 19 of 24 patients. Before CAR-T cell infusion, lymphodepletion with fludarabine and cyclophosphamide was systematically performed. The median follow-up was 15.2 months. At 3 months after ide-cel infusion, 92% of patients achieved at least a partial response, and 50% achieved a complete response or better (\u2265CR). At 6 months, 70% of patients had a persistent \u2265CR. At 3 and 6 months, bone marrow minimal residual disease (10",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38458477"
+},
+{
+ "id": "pmid:36379850",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/36379850",
+ "title": "The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice.",
+ "type": "article-journal",
+ "doi": "10.1016/j.pan.2022.11.003",
+ "authors": [
+ ["Karianne", "Fjeld"],
+ ["Anny", "Gravdal"],
+ ["Ranveig S", "Brekke"],
+ ["Jahedul", "Alam"],
+ ["Steven J", "Wilhelm"],
+ ["Khadija", "El Jellas"],
+ ["Helene N", "Pettersen"],
+ ["Jianguo", "Lin"],
+ ["Marie H", "Solheim"],
+ ["Solrun J", "Steine"],
+ ["Bente B", "Johansson"],
+ ["P\u00e5l R", "Nj\u00f8lstad"],
+ ["Caroline S", "Verbeke"],
+ ["Xunjun", "Xiao"],
+ ["Mark E", "Lowe"],
+ ["Anders", "Molven"]
+ ],
+ "publisher": "Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]",
+ "issn": "1424-3911",
+ "date": "2022-11-09",
+ "abstract": "The CEL gene encodes the digestive enzyme carboxyl ester lipase. CEL-HYB1, a hybrid allele of CEL and its adjacent pseudogene CELP, is a genetic variant suggested to increase the risk of chronic pancreatitis (CP). Our aim was to develop a mouse model for CEL-HYB1 that enables studies of pancreatic disease mechanisms.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36379850"
+},
+{
+ "id": "pmid:35583610",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/35583610",
+ "title": "Phenotypic Composition of Commercial Anti-CD19 CAR T Cells Affects In Vivo Expansion and Disease Response in Patients with Large B-cell Lymphoma.",
+ "type": "article-journal",
+ "doi": "10.1158/1078-0432.ccr-22-0164",
+ "authors": [
+ ["Chiara", "Monfrini"],
+ ["Federico", "Stella"],
+ ["Vanessa", "Aragona"],
+ ["Martina", "Magni"],
+ ["Silva", "Ljevar"],
+ ["Cristina", "Vella"],
+ ["Eugenio", "Fardella"],
+ ["Annalisa", "Chiappella"],
+ ["Francesca", "Nanetti"],
+ ["Martina", "Pennisi"],
+ ["Anna", "Dodero"],
+ ["Anna", "Guidetti"],
+ ["Paolo", "Corradini"],
+ ["Cristiana", "Carniti"]
+ ],
+ "publisher": "Clinical cancer research : an official journal of the American Association for Cancer Research",
+ "issn": "1557-3265",
+ "date": "2022-08-02",
+ "abstract": "In clinical trials, the expansion and persistence of chimeric antigen receptor (CAR) T cells correlate with therapeutic efficacy. However, properties of CAR T cells that enable their in vivo proliferation have still to be consistently defined and the role of CAR T bag content has never been investigated in a real-life setting.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35583610"
+},
+{
+ "id": "pmid:35215948",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/35215948",
+ "title": "High Phenotypic Variation between an In Vitro-Passaged Fowl Adenovirus Serotype 1 (FAdV-1) and Its Virulent Progenitor Strain despite Almost Complete Sequence Identity of the Whole Genomes.",
+ "type": "article-journal",
+ "doi": "10.3390/v14020358",
+ "authors": [
+ ["Beatrice", "Grafl"],
+ ["Anna", "Schachner"],
+ ["Michael", "Hess"]
+ ],
+ "publisher": "Viruses",
+ "issn": "1999-4915",
+ "date": "2022-02-09",
+ "abstract": "Adenoviral gizzard erosion is an emerging disease with negative impact on health and production of chickens. In this study, we compared in vitro and in vivo characteristics of a fowl adenovirus serotype 1 (FAdV-1), attenuated by 53 consecutive passages in primary chicken embryo liver (CEL) cell cultures (11/7127-AT), with the virulent strain (11/7127-VT). Whole genome analysis revealed near-complete sequence identity between the strains. However, a length polymorphism in a non-coding adenine repeat sequence (11/7127-AT: 11 instead of 9) immediately downstream of the hexon open reading frame was revealed. One-step growth kinetics showed delayed multiplication of 11/7127-AT together with significantly lower titers in cell culture (up to 4 log",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35215948"
+},
+{
+ "id": "pmid:35156195",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/35156195",
+ "title": "In Vivo Cellular Expansion of Lisocabtagene Maraleucel and Association With Efficacy and Safety in Relapsed/Refractory Large B-Cell Lymphoma.",
+ "type": "article-journal",
+ "doi": "10.1002/cpt.2561",
+ "authors": [
+ ["Ken", "Ogasawara"],
+ ["James", "Lymp"],
+ ["Timothy", "Mack"],
+ ["Justine", "Dell'Aringa"],
+ ["Chang-Pin", "Huang"],
+ ["Jeff", "Smith"],
+ ["Leanne", "Peiser"],
+ ["Ana", "Kostic"]
+ ],
+ "publisher": "Clinical pharmacology and therapeutics",
+ "issn": "1532-6535",
+ "date": "2022-03-20",
+ "abstract": "Lisocabtagene maraleucel (liso-cel) is an autologous, CD19-directed, chimeric antigen receptor T-cell product for the treatment of adult patients with relapsed or refractory large B-cell lymphoma (LBCL) after 2 or more lines of systemic therapy. In vivo cellular expansion after single-dose administration of liso-cel has been characterized. In this article, in vivo liso-cel expansion in the pivotal study TRANSCEND NHL 001 (ClinicalTrials.gov identifier, NCT02631044) was further characterized to assess the relationship between in vivo cellular expansion after single-dose administration of liso-cel and efficacy or safety after adjusting for key baseline characteristics. Two bioanalytical methods, quantitative polymerase chain reaction and flow cytometry, were used for the assessment of cellular kinetics of liso-cel, which showed high concordance for in vivo cellular expansion. Multivariable logistic regression analyses demonstrated that higher in vivo cellular expansion of liso-cel was associated with a higher overall response and complete response rate, and a higher incidence of cytokine release syndrome and neurological events in patients with relapsed or refractory LBCL. Age and tumor burden (by sum of the product of perpendicular diameters) were likely to confound the relationship between in vivo cellular expansion and efficacy, where the association became stronger after controlling for these factors. Repeat dosing of liso-cel was tested in the study; however, in vivo cellular expansion of liso-cel was lower after repeat dosing than after the initial dose. These findings should enable a comprehensive understanding of the in vivo cellular kinetics of liso-cel and the association with outcomes in relapsed/refractory LBCL.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35156195"
+},
+{
+ "id": "pmid:35082198",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/35082198",
+ "title": "Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes.",
+ "type": "article-journal",
+ "doi": "10.1620/tjem.256.37",
+ "authors": [
+ ["Tomomi", "Kondoh"],
+ ["Yoko", "Nakajima"],
+ ["Katsuyuki", "Yokoi"],
+ ["Yuji", "Matsumoto"],
+ ["Hidehito", "Inagaki"],
+ ["Takema", "Kato"],
+ ["Yoichi", "Nakajima"],
+ ["Tetsuya", "Ito"],
+ ["Tetsushi", "Yoshikawa"],
+ ["Hiroki", "Kurahashi"]
+ ],
+ "publisher": "The Tohoku journal of experimental medicine",
+ "issn": "1349-3329",
+ "date": "2022-01-01",
+ "abstract": "Maturity-onset diabetes of the young (MODY) is a form of diabetes mellitus characterized by autosomal dominant inheritance, early onset, and the absence of pancreatic autoimmune markers. MODY-causing mutations have been identified in 14 genes, and carboxyl ester lipase (CEL) has been implicated in MODY8. We report a Japanese patient with MODY who harbored a heterogeneous mutation in CEL exon 2 (NM_001807.4:c.146_147delCT; NP_001798.2:p.Ser49CysfsTer52). A 13-year-old girl experienced her first episode of diabetic ketoacidosis, during which her endogenous insulin secretion was poor. However, her insulin secretion had apparently recovered 2 months after the commencement of insulin treatment, and no further treatment was required for the following 2 years. Diabetic ketoacidosis recurred when the patient was 15 years old, when her insulin secretion was again poor. Since that time, the patient, who is now 18 years old, has been undergoing continuous insulin treatment. The large fluctuations in her insulin secretory capacity led us to suspect MODY. MODY8 patients that carry a mutation in the variable number of tandem repeats in the last exon of the CEL gene typically show pancreatic exocrine dysfunction. However, in the present case, which features premature termination, there is no involvement of exocrine dysfunction, potentially demonstrating a genotype-phenotype correlation.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35082198"
+},
+{
+ "id": "pmid:34850019",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34850019",
+ "title": "Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases.",
+ "type": "article-journal",
+ "doi": "10.1210/clinem/dgab864",
+ "authors": [
+ ["Khadija", "El Jellas"],
+ ["Petra", "Du\u0161\u00e1tkov\u00e1"],
+ ["Ingfrid S", "Haldorsen"],
+ ["Janne", "Molnes"],
+ ["Erling", "Tjora"],
+ ["Bente B", "Johansson"],
+ ["Karianne", "Fjeld"],
+ ["Stefan", "Johansson"],
+ ["\u0160t\u011bp\u00e1nka", "Pr\u016fhov\u00e1"],
+ ["Leif", "Groop"],
+ ["J Matthias", "L\u00f6hr"],
+ ["P\u00e5l R", "Nj\u00f8lstad"],
+ ["Anders", "Molven"]
+ ],
+ "publisher": "The Journal of clinical endocrinology and metabolism",
+ "issn": "1945-7197",
+ "date": "2022-03-24",
+ "abstract": "Maturity onset diabetes of the young, type 8 (MODY8) is associated with mutations in the CEL gene, which encodes the digestive enzyme carboxyl ester lipase. Several diabetes cases and families have in recent years been attributed to mutations in CEL without any functional or clinical evidence provided.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34850019"
+},
+{
+ "id": "pmid:34507899",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34507899",
+ "title": "Homozygosity of short VNTR lengths in the CEL gene may confer susceptibility to idiopathic chronic pancreatitis.",
+ "type": "article-journal",
+ "doi": "10.1016/j.pan.2021.09.001",
+ "authors": [
+ ["Xiao-Tong", "Mao"],
+ ["Shun-Jiang", "Deng"],
+ ["Rui-Lin", "Kang"],
+ ["Yuan-Chen", "Wang"],
+ ["Zhao-Shen", "Li"],
+ ["Wen-Bin", "Zou"],
+ ["Zhuan", "Liao"]
+ ],
+ "publisher": "Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]",
+ "issn": "1424-3911",
+ "date": "2021-09-04",
+ "abstract": "The carboxyl-ester lipase (CEL) gene contains a variable number of tandem repeats (VNTR) region. It remains unclear whether the number of repeats in the CEL VNTR is related to the risk of pancreatic diseases. The aim of this study was to investigate whether CEL VNTR length is associated with idiopathic chronic pancreatitis (ICP), alcoholic chronic pancreatitis (ACP), or pancreatic cancer in a cohort of Chinese patients.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34507899"
+},
+{
+ "id": "pmid:34100900",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34100900",
+ "title": "Axicabtagene ciloleucel in vivo expansion and treatment outcome in aggressive B-cell lymphoma in a real-world setting.",
+ "type": "article-journal",
+ "doi": "10.1182/bloodadvances.2020003959",
+ "authors": [
+ ["Francis A", "Ayuk"],
+ ["Carolina", "Berger"],
+ ["Anita", "Badbaran"],
+ ["Tatjana", "Zabelina"],
+ ["Tanja", "Sonntag"],
+ ["Kristoffer", "Riecken"],
+ ["Maria", "Geffken"],
+ ["Dominic", "Wichmann"],
+ ["Christian", "Frenzel"],
+ ["Guenther", "Thayssen"],
+ ["Silke", "Zeschke"],
+ ["Nicolaus", "Kr\u00f6ger"],
+ ["Boris", "Fehse"]
+ ],
+ "publisher": "Blood advances",
+ "issn": "2473-9537",
+ "date": "2021-06-08",
+ "abstract": "Data on the association between chimeric antigen receptor (CAR)-T-cell kinetics and patient outcome in the nontrial setting are missing, mainly due to the lack of broadly available CAR-T-cell diagnostic quantification tools. We performed prospective quantification of axicabtagene ciloleucel (axi-cel) in 21 patients treated for aggressive B-cell lymphoma at our clinic. Median peak CAR-T-cell count was 16.14 CAR-T cells/\u00b5L. Patients with 16.14/\u03bcL or higher peak CAR-T cells (strong expanders) had more day-30 objective responses (91% vs 40%, P = .02). In univariate analysis, peak CAR-T cell \u2265 16.14 (P < .001), normal platelet counts at start of lymphodepletion (P < .001), no prior stem cell transplant (P = .04), and peak CAR-T cells as continuous variable (P = .03) were associated with better progression-free survival (PFS). After adjusting for platelet counts and prior stem cell transplantation, peak CAR-T cells below median was still associated with shorter PFS (relative risk, 0.15, 95% confidence interval, 0.04-0.59, P = .007). Low platelet counts also maintained significant impact on PFS. Our data demonstrate association of axi-cel levels and outcome in a nontrial setting and for the first time use a cutoff to segregate weak and strong expanders with respective outcomes.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34100900"
+},
+{
+ "id": "pmid:33862081",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33862081",
+ "title": "The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity.",
+ "type": "article-journal",
+ "doi": "10.1016/j.jbc.2021.100661",
+ "authors": [
+ ["Anny", "Gravdal"],
+ ["Xunjun", "Xiao"],
+ ["Miriam", "Cnop"],
+ ["Khadija", "El Jellas"],
+ ["Stefan", "Johansson"],
+ ["P\u00e5l R", "Nj\u00f8lstad"],
+ ["Mark E", "Lowe"],
+ ["Bente B", "Johansson"],
+ ["Anders", "Molven"],
+ ["Karianne", "Fjeld"]
+ ],
+ "publisher": "The Journal of biological chemistry",
+ "issn": "1083-351X",
+ "date": "2021-04-14",
+ "abstract": "Variable number of tandem repeat (VNTR) sequences in the genome can have functional consequences that contribute to human disease. This is the case for the CEL gene, which is specifically expressed in pancreatic acinar cells and encodes the digestive enzyme carboxyl ester lipase. Rare single-base deletions (DELs) within the first (DEL1) or fourth (DEL4) VNTR segment of CEL cause maturity-onset diabetes of the young, type 8 (MODY8), an inherited disorder characterized by exocrine pancreatic dysfunction and diabetes. Studies on the DEL1 variant have suggested that MODY8 is initiated by CEL protein misfolding and aggregation. However, it is unclear how the position of single-base deletions within the CEL VNTR affects pathogenic properties of the protein. Here, we investigated four naturally occurring CEL variants, arising from single-base deletions in different VNTR segments (DEL1, DEL4, DEL9, and DEL13). When the four variants were expressed in human embryonic kidney 293 cells, only DEL1 and DEL4 led to significantly reduced secretion, increased intracellular aggregation, and increased endoplasmic reticulum stress compared with normal CEL protein. The level of O-glycosylation was affected in all DEL variants. Moreover, all variants had enzymatic activity comparable with that of normal CEL. We conclude that the longest aberrant protein tails, resulting from single-base deletions in the proximal VNTR segments, have highest pathogenic potential, explaining why DEL1 and DEL4 but not DEL9 and DEL13 have been observed in patients with MODY8. These findings further support the view that CEL mutations cause pancreatic disease through protein misfolding and proteotoxicity, leading to endoplasmic reticulum stress and activation of the unfolded protein response.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33862081"
+},
+{
+ "id": "pmid:27802312",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/27802312",
+ "title": "Length of Variable Numbers of Tandem Repeats in the Carboxyl Ester Lipase (CEL) Gene May Confer Susceptibility to Alcoholic Liver Cirrhosis but Not Alcoholic Chronic Pancreatitis.",
+ "type": "article-journal",
+ "doi": "10.1371/journal.pone.0165567",
+ "authors": [
+ ["Karianne", "Fjeld"],
+ ["Sebastian", "Beer"],
+ ["Marianne", "Johnstone"],
+ ["Constantin", "Zimmer"],
+ ["Joachim", "M\u00f6ssner"],
+ ["Claudia", "Ruffert"],
+ ["Mario", "Krehan"],
+ ["Christian", "Zapf"],
+ ["P\u00e5l Rasmus", "Nj\u00f8lstad"],
+ ["Stefan", "Johansson"],
+ ["Peter", "Bugert"],
+ ["Fabio", "Miyajima"],
+ ["Triantafillos", "Liloglou"],
+ ["Laura J", "Brown"],
+ ["Simon A", "Winn"],
+ ["Kelly", "Davies"],
+ ["Diane", "Latawiec"],
+ ["Bridget K", "Gunson"],
+ ["David N", "Criddle"],
+ ["Munir", "Pirmohamed"],
+ ["Robert", "Gr\u00fctzmann"],
+ ["Patrick", "Michl"],
+ ["William", "Greenhalf"],
+ ["Anders", "Molven"],
+ ["Robert", "Sutton"],
+ ["Jonas", "Rosendahl"]
+ ],
+ "publisher": "PloS one",
+ "issn": "1932-6203",
+ "date": "2016-11-01",
+ "abstract": "Carboxyl-ester lipase (CEL) contributes to fatty acid ethyl ester metabolism, which is implicated in alcoholic pancreatitis. The CEL gene harbours a variable number of tandem repeats (VNTR) region in exon 11. Variation in this VNTR has been linked to monogenic pancreatic disease, while conflicting results were reported for chronic pancreatitis (CP). Here, we aimed to investigate a potential association of CEL VNTR lengths with alcoholic CP.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27802312"
+},
+{
+ "id": "pmid:27650499",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/27650499",
+ "title": "A Carboxyl Ester Lipase (CEL) Mutant Causes Chronic Pancreatitis by Forming Intracellular Aggregates That Activate Apoptosis.",
+ "type": "article-journal",
+ "doi": "10.1074/jbc.m116.734384",
+ "authors": [
+ ["Xunjun", "Xiao"],
+ ["Gabrielle", "Jones"],
+ ["Wednesday A", "Sevilla"],
+ ["Donna B", "Stolz"],
+ ["Kelsey E", "Magee"],
+ ["Margaret", "Haughney"],
+ ["Amitava", "Mukherjee"],
+ ["Yan", "Wang"],
+ ["Mark E", "Lowe"]
+ ],
+ "publisher": "The Journal of biological chemistry",
+ "issn": "1083-351X",
+ "date": "2016-09-20",
+ "abstract": "Patients with chronic pancreatitis (CP) frequently have genetic risk factors for disease. Many of the identified genes have been connected to trypsinogen activation or trypsin inactivation. The description of CP in patients with mutations in the variable number of tandem repeat (VNTR) domain of carboxyl ester lipase (CEL) presents an opportunity to study the pathogenesis of CP independently of trypsin pathways. We tested the hypothesis that a deletion and frameshift mutation (C563fsX673) in the CEL VNTR causes CP through proteotoxic gain-of-function activation of maladaptive cell signaling pathways including cell death pathways. HEK293 or AR42J cells were transfected with constructs expressing CEL with 14 repeats in the VNTR (CEL14R) or C563fsX673 CEL (CEL maturity onset diabetes of youth with a deletion mutation in the VNTR (MODY)). In both cell types, CEL MODY formed intracellular aggregates. Secretion of CEL MODY was decreased compared with that of CEL14R. Expression of CEL MODY increased endoplasmic reticulum stress, activated the unfolded protein response, and caused cell death by apoptosis. Our results demonstrate that disorders of protein homeostasis can lead to CP and suggest that novel therapies to decrease the intracellular accumulation of misfolded protein may be successful in some patients with CP.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27650499"
+},
+{
+ "id": "pmid:27773618",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/27773618",
+ "title": "Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer.",
+ "type": "article-journal",
+ "doi": "10.1016/j.pan.2016.10.006",
+ "authors": [
+ ["Monica", "Dalva"],
+ ["Khadija", "El Jellas"],
+ ["Solrun J", "Steine"],
+ ["Bente B", "Johansson"],
+ ["Monika", "Ringdal"],
+ ["Janniche", "Torsvik"],
+ ["Heike", "Immervoll"],
+ ["Dag", "Hoem"],
+ ["Felix", "Laemmerhirt"],
+ ["Peter", "Simon"],
+ ["Markus M", "Lerch"],
+ ["Stefan", "Johansson"],
+ ["P\u00e5l R", "Nj\u00f8lstad"],
+ ["Frank U", "Weiss"],
+ ["Karianne", "Fjeld"],
+ ["Anders", "Molven"]
+ ],
+ "publisher": "Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]",
+ "issn": "1424-3911",
+ "date": "2016-10-11",
+ "abstract": "We have recently described copy number variants (CNVs) of the human carboxyl-ester lipase (CEL) gene, including a recombined deletion allele (CEL-HYB) that is a genetic risk factor for chronic pancreatitis. Associations with pancreatic disease have also been reported for the variable number of tandem repeat (VNTR) region located in CEL exon 11. Here, we examined if CEL CNVs and VNTR length polymorphisms affect the risk for developing pancreatic cancer.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27773618"
+},
+{
+ "id": "pmid:23395566",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/23395566",
+ "title": "The number of tandem repeats in the carboxyl-ester lipase (CEL) gene as a risk factor in alcoholic and idiopathic chronic pancreatitis.",
+ "type": "article-journal",
+ "doi": "10.1016/j.pan.2012.12.059",
+ "authors": [
+ ["Anja", "Ragvin"],
+ ["Karianne", "Fjeld"],
+ ["F Ulrich", "Weiss"],
+ ["Janniche", "Torsvik"],
+ ["Ali", "Aghdassi"],
+ ["Julia", "Mayerle"],
+ ["Peter", "Simon"],
+ ["P\u00e5l R", "Nj\u00f8lstad"],
+ ["Markus M", "Lerch"],
+ ["Stefan", "Johansson"],
+ ["Anders", "Molven"]
+ ],
+ "publisher": "Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]",
+ "issn": "1424-3911",
+ "date": "2012-12-20",
+ "abstract": "The variable number of tandem repeats (VNTR) in the last exon of the carboxyl-ester lipase (CEL) gene has been reported to associate with alcohol-induced chronic pancreatitis (ACP) in a Japanese study. Here, we have investigated the association between the number of CEL VNTR repeats and ACP or idiopathic chronic pancreatitis (ICP) in a cohort of German patients.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23395566"
+},
+{
+ "id": "pmid:21784842",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/21784842",
+ "title": "Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease.",
+ "type": "article-journal",
+ "doi": "10.1074/jbc.m111.222679",
+ "authors": [
+ ["Bente B", "Johansson"],
+ ["Janniche", "Torsvik"],
+ ["Lise", "Bj\u00f8rkhaug"],
+ ["Mette", "Vesterhus"],
+ ["Anja", "Ragvin"],
+ ["Erling", "Tjora"],
+ ["Karianne", "Fjeld"],
+ ["Dag", "Hoem"],
+ ["Stefan", "Johansson"],
+ ["Helge", "R\u00e6der"],
+ ["Susanne", "Lindquist"],
+ ["Olle", "Hernell"],
+ ["Miriam", "Cnop"],
+ ["Jaakko", "Saraste"],
+ ["Torgeir", "Flatmark"],
+ ["Anders", "Molven"],
+ ["P\u00e5l R", "Nj\u00f8lstad"]
+ ],
+ "publisher": "The Journal of biological chemistry",
+ "issn": "1083-351X",
+ "date": "2011-07-22",
+ "abstract": "CEL-maturity onset diabetes of the young (MODY), diabetes with pancreatic lipomatosis and exocrine dysfunction, is due to dominant frameshift mutations in the acinar cell carboxyl ester lipase gene (CEL). As Cel knock-out mice do not express the phenotype and the mutant protein has an altered and intrinsically disordered tandem repeat domain, we hypothesized that the disease mechanism might involve a negative effect of the mutant protein. In silico analysis showed that the pI of the tandem repeat was markedly increased from pH 3.3 in wild-type (WT) to 11.8 in mutant (MUT) human CEL. By stably overexpressing CEL-WT and CEL-MUT in HEK293 cells, we found similar glycosylation, ubiquitination, constitutive secretion, and quality control of the two proteins. The CEL-MUT protein demonstrated, however, a high propensity to form aggregates found intracellularly and extracellularly. Different physicochemical properties of the intrinsically disordered tandem repeat domains of WT and MUT proteins may contribute to different short and long range interactions with the globular core domain and other macromolecules, including cell membranes. Thus, we propose that CEL-MODY is a protein misfolding disease caused by a negative gain-of-function effect of the mutant proteins in pancreatic tissues.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21784842"
+},
+{
+ "id": "pmid:15841033",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/15841033",
+ "title": "Carboxylester lipase gene polymorphism as a risk of alcohol-induced pancreatitis.",
+ "type": "article-journal",
+ "doi": "10.1097/01.mpa.0000160960.21580.ml",
+ "authors": [
+ ["Kyoko", "Miyasaka"],
+ ["Minoru", "Ohta"],
+ ["Saeko", "Takano"],
+ ["Hiroshi", "Hayashi"],
+ ["Susumu", "Higuchi"],
+ ["Katsuya", "Maruyama"],
+ ["Yusuke", "Tando"],
+ ["Teruo", "Nakamura"],
+ ["Yutaka", "Takata"],
+ ["Akihiro", "Funakoshi"]
+ ],
+ "publisher": "Pancreas",
+ "issn": "1536-4828",
+ "date": "2005-05-01",
+ "abstract": "Alcohol abuse causes pancreatic damage in humans. However, only 5% of alcoholic patients have a clinical manifestation of pancreatitis, and the genetic predisposition of alcohol-associated pancreatitis remains elusive. Nonoxidative metabolites of ethanol, fatty acid ethyl esters (FAEEs), might play an important role in pancreatic damage. Carboxylester lipase (CEL) has been known to catalyze FAEE synthesis from fatty acids and ethanol.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15841033"
+},
+{
+ "id": "pmid:41937177",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41937177",
+ "title": "The novel (TCTG)",
+ "type": "article-journal",
+ "doi": "10.1186/s40246-026-00954-7",
+ "authors": [
+ ["Federica", "Centofanti"],
+ ["Virginia Veronica", "Visconti"],
+ ["Maria Rosaria", "D'Apice"],
+ ["Marco", "Carlomagno"],
+ ["Simone", "Maestri"],
+ ["Dario", "Ciabini"],
+ ["Mario", "Bengala"],
+ ["Enrica", "Marchionni"],
+ ["Erica", "Frezza"],
+ ["Roberto", "Massa"],
+ ["Antonio", "Petrucci"],
+ ["Francesca", "Lupidi"],
+ ["Elena", "Pegoraro"],
+ ["Gabriele", "Siciliano"],
+ ["Matteo", "Garibaldi"],
+ ["Paola", "Origone"],
+ ["Massimo", "Delledonne"],
+ ["Marzia", "Rossato"],
+ ["Annalisa", "Botta"],
+ ["Giuseppe", "Novelli"]
+ ],
+ "publisher": "Human genomics",
+ "issn": "1479-7364",
+ "date": "2026-04-05",
+ "abstract": "Introduction. Myotonic dystrophy type 2 (DM2) is an autosomal dominant disorder caused by (CCTG)",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41937177"
+},
{
"id": "pmid:41610137",
"manubot_success": true,
@@ -72921,6 +75931,43 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41610137"
},
+{
+ "id": "pmid:40113266",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/40113266",
+ "title": "Optical genome mapping enables accurate testing of large repeat expansions.",
+ "type": "article-journal",
+ "doi": "10.1101/gr.279491.124",
+ "authors": [
+ ["Bart", "van der Sanden"],
+ ["Kornelia", "Neveling"],
+ ["Syukri", "Shukor"],
+ ["Michael D", "Gallagher"],
+ ["Joyce", "Lee"],
+ ["Stephanie L", "Burke"],
+ ["Maartje", "Pennings"],
+ ["Ronald", "van Beek"],
+ ["Michiel", "Oorsprong"],
+ ["Ellen", "Kater-Baats"],
+ ["Eveline", "Kamping"],
+ ["Alide A", "Tieleman"],
+ ["Nicol C", "Voermans"],
+ ["Ingrid E", "Scheffer"],
+ ["Jozef", "Gecz"],
+ ["Mark A", "Corbett"],
+ ["Lisenka E L M", "Vissers"],
+ ["Andy Wing Chun", "Pang"],
+ ["Alex", "Hastie"],
+ ["Erik-Jan", "Kamsteeg"],
+ ["Alexander", "Hoischen"]
+ ],
+ "publisher": "Genome research",
+ "issn": "1549-5469",
+ "date": "2025-04-14",
+ "abstract": "Short tandem repeats (STRs) are common variations in human genomes that frequently expand or contract, causing genetic disorders, mainly when expanded. Traditional diagnostic methods for identifying these expansions, such as repeat-primed PCR and Southern blotting, are often labor-intensive, locus-specific, and are unable to precisely determine long repeat expansions. Sequencing-based methods, although capable of genome-wide detection, are limited by inaccuracy (short-read technologies) and high associated costs (long-read technologies). This study evaluated optical genome mapping (OGM) as an efficient, accurate approach for measuring STR lengths and assessing somatic stability in 85 samples with known pathogenic repeat expansions in",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40113266"
+},
{
"id": "pmid:39894140",
"manubot_success": true,
@@ -72969,6 +76016,29 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39240646"
},
+{
+ "id": "pmid:39119544",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39119544",
+ "title": "Co-occurrence of",
+ "type": "article-journal",
+ "doi": "10.5114/ppn.2024.141382",
+ "authors": [
+ ["Wiktoria", "Radziwonik-Fr\u0105czyk"],
+ ["Ewelina", "Elert-Dobkowska"],
+ ["Jolanta", "Kubalska"],
+ ["Iwona", "St\u0119pniak"],
+ ["Marta", "Lipowska"],
+ ["Anna", "Potulska-Chromik"],
+ ["Anna", "Su\u0142ek"]
+ ],
+ "publisher": "Postepy psychiatrii neurologii",
+ "issn": "2720-5371",
+ "date": "2024-07-24",
+ "abstract": "Muscular dystrophy is a group of heterogeneous diseases causing progressive muscle weakness and atrophy. Many types have been defined, including Duchenne/Becker, myotonic, limb-girdle, congenital, and facioscapulohumeral muscular dystrophies. This study aims to present the first patient with both a homozygous",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39119544"
+},
{
"id": "pmid:38922834",
"manubot_success": true,
@@ -73176,6 +76246,28 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34101465"
},
+{
+ "id": "pmid:34024776",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34024776",
+ "title": "Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 2.",
+ "type": "article-journal",
+ "doi": "10.3233/jnd-210671",
+ "authors": [
+ ["Manon", "Damen"],
+ ["Mascha", "Schijvenaars"],
+ ["Marlies", "Schimmel-Naber"],
+ ["Johanne", "Groothuismink"],
+ ["Marieke", "Coenen"],
+ ["Alide", "Tieleman"]
+ ],
+ "publisher": "Journal of neuromuscular diseases",
+ "issn": "2214-3602",
+ "date": "2021-01-01",
+ "abstract": "Myotonic dystrophy type 2 (DM2) is caused by a CCTG repeat expansion in intron 1 of the CCHC-Type Zinc Finger Nucleic Acid Binding Protein (CNBP) gene. Previous studies indicated that this repeat expansion originates from separate founders.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34024776"
+},
{
"id": "pmid:33595997",
"manubot_success": true,
@@ -73330,6 +76422,30 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29973908"
},
+{
+ "id": "pmid:29291944",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/29291944",
+ "title": "Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients.",
+ "type": "article-journal",
+ "doi": "10.1016/j.bbadis.2017.12.037",
+ "authors": [
+ ["Massimo", "Santoro"],
+ ["Luana", "Fontana"],
+ ["Francesca", "Maiorca"],
+ ["Federica", "Centofanti"],
+ ["Roberto", "Massa"],
+ ["Gabriella", "Silvestri"],
+ ["Giuseppe", "Novelli"],
+ ["Annalisa", "Botta"]
+ ],
+ "publisher": "Biochimica et biophysica acta. Molecular basis of disease",
+ "issn": "0925-4439",
+ "date": "2017-12-29",
+ "abstract": "Myotonic Dystrophy type 2 (DM2) is a multisystemic disorder associated with an expanded [CCTG]n repeat in intron 1 of the CNBP gene. Epigenetic modifications have been reported in many repeat expansion disorders, including myotonic dystrophy type 1 (DM1), either as a mechanism to explain somatic repeat instability or transcriptional alterations in disease genes. The purpose of our work was to determine the effect of DM2 mutation on the methylation status of CpG islands localized in the 5' promoter region and in the 3' end of the [CCTG]n expansion of the CNBP gene. By bisulfite pyrosequencing, we characterized the methylation profile of two different CpG islands within these regions, either in whole blood and skeletal muscle tissues of DM2 patients (n=72 and n=7, respectively) and controls (n=50 and n=7, respectively). Moreover, we compared the relative mRNA transcript levels of CNBP gene in leukocytes and in skeletal muscle tissues from controls and DM2 patients. We found that CpG sites located in the promoter region showed hypomethylation, whereas CpG sites at 3' end of the CCTG array are hypermethylated. Statistical analyses did not demonstrate any significant differences in the methylation profile between DM2 patients and controls in both tissues analyzed. According to the methylation analysis, CNBP gene expression levels are not significantly altered in DM2 patients. These results show that [CCTG]n repeat expansion, differently from the DM1 mutation, does not influence the methylation status of the CNBP gene and suggest that other molecular mechanisms are involved in the pathogenesis of DM2.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29291944"
+},
{
"id": "pmid:28623239",
"manubot_success": true,
@@ -73377,6 +76493,72 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28491317"
},
+{
+ "id": "pmid:28130447",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/28130447",
+ "title": "Pseudouridine Modification Inhibits Muscleblind-like 1 (MBNL1) Binding to CCUG Repeats and Minimally Structured RNA through Reduced RNA Flexibility.",
+ "type": "article-journal",
+ "doi": "10.1074/jbc.m116.770768",
+ "authors": [
+ ["Elaine", "deLorimier"],
+ ["Melissa N", "Hinman"],
+ ["Jeremy", "Copperman"],
+ ["Kausiki", "Datta"],
+ ["Marina", "Guenza"],
+ ["J Andrew", "Berglund"]
+ ],
+ "publisher": "The Journal of biological chemistry",
+ "issn": "1083-351X",
+ "date": "2017-01-27",
+ "abstract": "Myotonic dystrophy type 2 is a genetic neuromuscular disease caused by the expression of expanded CCUG repeat RNAs from the non-coding region of the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28130447"
+},
+{
+ "id": "pmid:27727437",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/27727437",
+ "title": "Molecular Diagnosis of Myotonic Dystrophy.",
+ "type": "article-journal",
+ "doi": "10.1002/cphg.22",
+ "authors": [
+ ["Sujata", "Chakraborty"],
+ ["Matteo", "Vatta"],
+ ["Linda L", "Bachinski"],
+ ["Ralf", "Krahe"],
+ ["Stephen", "Dlouhy"],
+ ["Shaochun", "Bai"]
+ ],
+ "publisher": "Current protocols in human genetics",
+ "issn": "1934-8258",
+ "date": "2016-10-11",
+ "abstract": "Myotonic dystrophy types 1 (DM1) and 2 (DM2) are autosomal dominant, microsatellite repeat expansion disorders that affect muscle function. Myotonic dystrophy type 1 is caused by CTG repeat expansion in the 3' UTR region of the DMPK gene. Patients with DM2 have expansion of CCTG repeats in intron 1 of the CNBP gene. In this unit, we review and discuss the clinical phenotypes, genetic mutations causing the diseases, and the molecular diagnostic approaches and tools that are used to determine repeat sizes in DM1/2. In summary, the goal of this chapter is to provide the reader with a basic understanding of the clinical, genetic and diagnostic aspects of these disorders. \u00a9 2016 by John Wiley & Sons, Inc.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27727437"
+},
+{
+ "id": "pmid:27222292",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/27222292",
+ "title": "Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.",
+ "type": "article-journal",
+ "doi": "10.1038/ejhg.2016.41",
+ "authors": [
+ ["Mirjam", "Larsen"],
+ ["Wolfram", "Kress"],
+ ["Benedikt", "Schoser"],
+ ["Ute", "Hehr"],
+ ["Clemens R", "M\u00fcller"],
+ ["Simone", "Rost"]
+ ],
+ "publisher": "European journal of human genetics : EJHG",
+ "issn": "1476-5438",
+ "date": "2016-05-25",
+ "abstract": "The myotonic dystrophies (DMs) are the most common inherited muscular disorders in adults. In most of the cases, the disease is caused by (CTG)n/(CCTG)n repeat expansions (EXPs) in non-coding regions of the genes DMPK (dystrophia myotonica-protein kinase) and CNBP (CCHC-type zinc-finger nucleic acid-binding protein). The EXP is transcribed into mutant RNAs, which provoke a common pathomechanism that is characterized by misexpression and mis-splicing. In this study, we screened 138 patients with typical clinical features of DM being negative for EXP in the known genes. We sequenced DMPK and CNBP - associated with DM, as well as CELF1 (CUGBP, Elav-like family member 1) and MBNL1 (muscleblind-like splicing regulator 1) - associated with the pathomechanism of DM, for pathogenic variants, addressing the question whether defects in other genes could cause a DM-like phenotype. We identified variants in three unrelated patients in the MBNL1 gene, two of them were heterozygous missense mutations and one an in-frame deletion of three amino acids. The variants were located in different conserved regions of the protein. The missense mutations were classified as potentially pathogenic by prediction tools. Analysis of MBNL1 splice target genes was carried out for one of the patients using RNA from peripheral blood leukocytes (PBL). Analysis of six genes known to show mis-splicing in the skeletal muscle gave no informative results on the effect of this variant when tested in PBL. The association of these variants with the DM phenotype therefore remains unconfirmed, but we hope that in view of the key role of MBNL1 in DM pathogenesis our observations may foster further studies in this direction.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27222292"
+},
{
"id": "pmid:26586700",
"manubot_success": true,
@@ -74842,6 +78024,47 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:14510831"
},
+{
+ "id": "pmid:12215838",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/12215838",
+ "title": "Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.",
+ "type": "article-journal",
+ "doi": "10.1007/s00439-002-0755-x",
+ "authors": [
+ ["Bruno", "Moulard"],
+ ["Pierre", "Genton"],
+ ["Djamel", "Grid"],
+ ["Marc", "Jeanpierre"],
+ ["R\u00e9da", "Ouazzani"],
+ ["Amel", "Mrabet"],
+ ["Mike", "Morris"],
+ ["Eric", "LeGuern"],
+ ["Charlotte", "Dravet"],
+ ["Fran\u00e7ois", "Maugui\u00e8re"],
+ ["Barbara", "Utermann"],
+ ["Michel", "Baldy-Moulinier"],
+ ["Halima", "Belaidi"],
+ ["Fran\u00e7oise", "Bertran"],
+ ["Arnaud", "Biraben"],
+ ["Andr\u00e9", "Ali Ch\u00e9rif"],
+ ["Taieb", "Chkili"],
+ ["Arielle", "Crespel"],
+ ["Fran\u00e7oise", "Darcel"],
+ ["Olivier", "Dulac"],
+ ["Christian", "Geny"],
+ ["V\u00e9ronique", "Humbert-Claude"],
+ ["Philippe", "Kassiotis"],
+ ["Catherine", "Buresi"],
+ ["Alain", "Malafosse"]
+ ],
+ "publisher": "Human genetics",
+ "issn": "0340-6717",
+ "date": "2002-07-23",
+ "abstract": "Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy common in Finland and North Africa, and less common in Western Europe. ULD is mostly caused by expansion of a dodecamer repeat in the cystatin B gene ( CSTB) promoter. We performed a haplotype study of ULD chromosomes (ULDc) with the repeat expansion. We included 48 West European Caucasian (WEC) and 47 North African (NA) ULDc. We analysed eight markers flanking CSTB(GT10-D21S1890-D21S1885-D21S2040-D21S1259- CSTB-D21S1912-PFKL-D21S171) and one intragenic variant in the CSTB 3' UTR (A2575G). We observed a founder effect in most of the NA ULD patients, as 61.7% of the NA ULDc (29/47) shared the same haplotype, A1 (1-1-A-1-6-7), for markers D21S1885-D21S2040-A2575G-D21S1259-D21S1912-PFKL. Moreover, if we considered only the markers D21S1885, D21S2040, A2575G and D21S1259, 43 of the 47 NA ULDc shared the same alleles 1-1-A-1, haplotype A. As previously shown, the WEC ULDc were heterogeneous. However, the Baltic haplotype, A3 (5-1-1-A-1-1), was observed in ten WEC ULDc (20.8%) and the CSTB 3'UTR variant, which we called the Alps variant, was observed in 17 ULDc (35.4%). Finally, as almost all NA patients, like Scandinavian patients, were of the haplotype A, we assumed that there was an ancient common founder effect in NA and Baltic ULD patients. We estimated that the putative most recent common ancestral ULD carrier with this haplotype A must have existed about 2,500 years ago (100-150 generations). Finally, this work provides evidence for the existence of only a small number of founder mutations in ULD.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12215838"
+},
{
"id": "pmid:11790146",
"manubot_success": true,
@@ -74861,6 +78084,25 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11790146"
},
+{
+ "id": "pmid:11697734",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/11697734",
+ "title": "Progressive myoclonus epilepsy [EPM1] repeat d(CCCCGCCCCGCG)n forms folded hairpin structures at physiological pH.",
+ "type": "article-journal",
+ "doi": "10.1080/07391102.2001.10506740",
+ "authors": [
+ ["S S", "Pataskar"],
+ ["D", "Dash"],
+ ["S K", "Brahmachari"]
+ ],
+ "publisher": "Journal of biomolecular structure & dynamics",
+ "issn": "0739-1102",
+ "date": "2001-10-01",
+ "abstract": "The secondary structure of DNA has been shown to be an important component in the mechanism of expansion of the trinucleotide repeats that are associated with many neurodegenerative disorders. Recently, expansion of a dodecamer repeat, (CCCCGCCCCGCG)n upstream of cystatin B gene has been shown to be the most common mutation associated with Progressive Myoclonus Epilepsy (EPM1) of Unverricht-Lundborg type. We have investigated structure of oligonucleotides containing one, two and three copies of the EPM1 repeat sequences at physiological pH. CD spectra and anomalous faster gel electrophoretic mobilty indicates formation of intramolecularly folded structures that are formed independent of concentration. Hydroxylamine probing allowed us to identify the C residues that are involved in C.G base pairing. P1 nuclease studies elucidated the presence of unpaired regions in the folded back structures. UV melting studies show biphasic melting curves for the oligonucleotides containing two and three EPM1 repeats. Our data suggests multiple hairpin structures for two and three repeat containing oligonucleotides. In this paper we show that oligonucleotides containing EPM1 repeat adopt secondary structures that may facilitate strand slippage thereby causing the expansion.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11697734"
+},
{
"id": "pmid:11571333",
"manubot_success": true,
@@ -74912,6 +78154,44 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11524486"
},
+{
+ "id": "pmid:11240124",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/11240124",
+ "title": "Tetraplex formation by the progressive myoclonus epilepsy type-1 repeat: implications for instability in the repeat expansion diseases.",
+ "type": "article-journal",
+ "doi": "10.1016/s0014-5793(01)02190-1",
+ "authors": [
+ ["T", "Saha"],
+ ["K", "Usdin"]
+ ],
+ "publisher": "FEBS letters",
+ "issn": "0014-5793",
+ "date": "2001-03-02",
+ "abstract": "The repeat expansion diseases are a group of genetic disorders resulting from an increase in size or expansion of a specific array of tandem repeats. It has been suggested that DNA secondary structures are responsible for this expansion. If this is so, we would expect that all unstable repeats should form such structures. We show here that the unstable repeat that causes progressive myoclonus epilepsy type-1 (EPM1), like the repeats associated with other diseases in this category, forms a variety of secondary structures. However, EPM1 is unique in that tetraplexes are the only structures likely to form in long unpaired repeat tracts under physiological conditions.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11240124"
+},
+{
+ "id": "pmid:10927802",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/10927802",
+ "title": "A patient with 2 different repeat expansion mutations.",
+ "type": "article-journal",
+ "doi": "10.1001/archneur.57.8.1199",
+ "authors": [
+ ["P", "Nokelainen"],
+ ["H", "Heiskala"],
+ ["A E", "Lehesjoki"],
+ ["M", "Kaski"]
+ ],
+ "publisher": "Archives of neurology",
+ "issn": "0003-9942",
+ "date": "2000-08-01",
+ "abstract": "Many inherited progressive encephalopathies have a poor outcome, and some are caused by repeat expansion mutations. How would the presence of 2 different expansion mutations affect the phenotype?",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10927802"
+},
{
"id": "pmid:10721698",
"manubot_success": true,
@@ -74933,6 +78213,27 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10721698"
},
+{
+ "id": "pmid:10660338",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/10660338",
+ "title": "The minisatellite expansion mutation in EPM1: resolution of an initial discrepancy. Mutatations in brief no. 186. Online.",
+ "type": "article-journal",
+ "doi": "",
+ "authors": [
+ ["K", "Virtaneva"],
+ ["L", "Paulin"],
+ ["R", "Krahe"],
+ ["A", "de la Chapelle"],
+ ["A E", "Lehesjoki"]
+ ],
+ "publisher": "Human mutation",
+ "issn": "1059-7794",
+ "date": "1998-01-01",
+ "abstract": "Mutations in the cystatin B (CSTB) gene underlie progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) (Pennacchio et al., 1996). We previously described an unstable minisatellite expansion mutation in the putative promoter region of CSTB that accounts for the majority of EPM1 patients. Sequencing of a genomic lambda clone, generated from a Finnish EPM1 patient homozygous for an enlarged restriction fragment, revealed a 15- to 18-mer minisatellite repeat expansion (Virtaneva et al., 1997). Later, sequencing of plasmid clones generated from Swiss and French patients revealed a dodecamer repeat expansion (Lalioti et al., 1997a). By restriction enzyme analysis of our original patient clone and a clone generated from an Italian patient, we now show that the expansion is neither a 15-mer nor an 18-mer contrary to our initial results. Moreover, direct sequencing of the Finnish patient clone with Pfu exo polymerase confirmed that the expanded repeat is a dodecamer. Based on this finding and additional experiments, we suggest that the discrepancy between the two studies was due to errors caused by the combination of native Pfu polymerase and modified guanosine deaza-7-dGTP used in the PCR reaction.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10660338"
+},
{
"id": "pmid:10441345",
"manubot_success": true,
@@ -75110,6 +78411,28 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41871099"
},
+{
+ "id": "pmid:36622139",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/36622139",
+ "title": "Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability.",
+ "type": "article-journal",
+ "doi": "10.1111/epi.17504",
+ "authors": [
+ ["Christel", "Depienne"],
+ ["Arn M J M", "van den Maagdenberg"],
+ ["Theresa", "K\u00fchnel"],
+ ["Hiroyuki", "Ishiura"],
+ ["Mark A", "Corbett"],
+ ["Shoji", "Tsuji"]
+ ],
+ "publisher": "Epilepsia",
+ "issn": "1528-1167",
+ "date": "2023-01-22",
+ "abstract": "Familial adult myoclonus epilepsy (FAME) results from the same pathogenic TTTTA/TTTCA pentanucleotide repeat expansion in six distinct genes encoding proteins with different subcellular localizations and very different functions, which poses the issue of what causes the neurobiological disturbances that lead to the clinical phenotype. Postmortem and electrophysiological studies have pointed to cortical hyperexcitability as well as dysfunction and neurodegeneration of both the cortex and cerebellum of FAME subjects. FAME expansions, contrary to the same expansion in DAB1 causing spinocerebellar ataxia type 37, seem to have no or limited impact on their recipient gene expression, which suggests a pathophysiological mechanism independent of the gene and its function. Current hypotheses include toxicity of the RNA molecules carrying UUUCA repeats, or toxicity of polypeptides encoded by the repeats, a mechanism known as repeat-associated non-AUG translation. The analysis of postmortem brains of FAME1 expansion (in SAMD12) carriers has revealed the presence of RNA foci that could be formed by the aggregation of RNA molecules with abnormal UUUCA repeats, but evidence is still lacking for other FAME subtypes. Even when the expansion is located in a gene ubiquitously expressed, expression of repeats remains undetectable in peripheral tissues (blood, skin). Therefore, the development of appropriate cellular models (induced pluripotent stem cell-derived neurons) or the study of affected tissues in patients is required to elucidate how FAME repeat expansions located in unrelated genes lead to disease.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36622139"
+},
{
"id": "pmid:32582864",
"manubot_success": true,
@@ -75167,93 +78490,30 @@
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30588707"
},
{
- "id": "pmid:38418263",
+ "id": "pmid:42205056",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38418263",
- "title": "Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42205056",
+ "title": "No Evidence for an Association Between DIP2B Repeat Expansion and Neurological Disease.",
"type": "article-journal",
- "doi": "10.1016/j.ebiom.2024.105027",
+ "doi": "10.1002/mds.70373",
"authors": [
- ["Aleksandra", "Mitina"],
- ["Mahreen", "Khan"],
- ["Robert", "Lesurf"],
- ["Yue", "Yin"],
- ["Worrawat", "Engchuan"],
- ["Omar", "Hamdan"],
- ["Giovanna", "Pellecchia"],
- ["Brett", "Trost"],
- ["Ian", "Backstrom"],
- ["Keyi", "Guo"],
- ["Linda M", "Pallotto"],
- ["Phoenix Hoi", "Lam Doong"],
- ["Zhuozhi", "Wang"],
- ["Thomas", "Nalpathamkalam"],
- ["Bhooma", "Thiruvahindrapuram"],
- ["Tanya", "Papaz"],
- ["Christopher E", "Pearson"],
- ["Jiannis", "Ragoussis"],
- ["Padmaja", "Subbarao"],
- ["Meghan B", "Azad"],
- ["Stuart E", "Turvey"],
- ["Piushkumar", "Mandhane"],
- ["Theo J", "Moraes"],
- ["Elinor", "Simons"],
- ["Stephen W", "Scherer"],
- ["Jane", "Lougheed"],
- ["Tapas", "Mondal"],
- ["John", "Smythe"],
- ["Luis", "Altamirano-Diaz"],
- ["Erwin", "Oechslin"],
- ["Seema", "Mital"],
- ["Ryan K C", "Yuen"]
- ],
- "publisher": "EBioMedicine",
- "issn": "2352-3964",
- "date": "2024-02-27",
- "abstract": "Cardiomyopathy is a clinically and genetically heterogeneous heart condition that can lead to heart failure and sudden cardiac death in childhood. While it has a strong genetic basis, the genetic aetiology for over 50% of cardiomyopathy cases remains unknown.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38418263"
-},
-{
- "id": "pmid:37248219",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37248219",
- "title": "Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.",
- "type": "article-journal",
- "doi": "10.1038/s41467-023-38782-1",
- "authors": [
- ["Warren A", "Cheung"],
- ["Adam F", "Johnson"],
- ["William J", "Rowell"],
- ["Emily", "Farrow"],
- ["Richard", "Hall"],
- ["Ana S A", "Cohen"],
- ["John C", "Means"],
- ["Tricia N", "Zion"],
- ["Daniel M", "Portik"],
- ["Christopher T", "Saunders"],
- ["Boryana", "Koseva"],
- ["Chengpeng", "Bi"],
- ["Tina K", "Truong"],
- ["Carl", "Schwendinger-Schreck"],
- ["Byunggil", "Yoo"],
- ["Jeffrey J", "Johnston"],
- ["Margaret", "Gibson"],
- ["Gilad", "Evrony"],
- ["William B", "Rizzo"],
- ["Isabelle", "Thiffault"],
- ["Scott T", "Younger"],
- ["Tom", "Curran"],
- ["Aaron M", "Wenger"],
- ["Elin", "Grundberg"],
- ["Tomi", "Pastinen"]
+ ["Chia-Ying", "Ko"],
+ ["Leon", "Sch\u00fctz"],
+ ["Thomas", "Braun"],
+ ["Elena", "Buena-Atienza"],
+ ["Nicolas", "Casadei"],
+ ["Danique", "Beijer"],
+ ["Ludger", "Sch\u00f6ls"],
+ ["Tobias B", "Haack"],
+ ["Stephan", "Ossowski"],
+ ["Holger", "Hengel"]
],
- "publisher": "Nature communications",
- "issn": "2041-1723",
- "date": "2023-05-29",
- "abstract": "Long-read HiFi genome sequencing allows for accurate detection and direct phasing of single nucleotide variants, indels, and structural variants. Recent algorithmic development enables simultaneous detection of CpG methylation for analysis of regulatory element activity directly in HiFi reads. We present a comprehensive haplotype resolved 5-base HiFi genome sequencing dataset from a rare disease cohort of 276 samples in 152 families to identify rare (~0.5%) hypermethylation events. We find that 80% of these events are allele-specific and predicted to cause loss of regulatory element activity. We demonstrate heritability of extreme hypermethylation including rare cis variants associated with short (~200\u2009bp) and large hypermethylation events (>1\u2009kb), respectively. We identify repeat expansions in proximal promoters predicting allelic gene silencing via hypermethylation and demonstrate allelic transcriptional events downstream. On average 30-40 rare hypermethylation tiles overlap rare disease genes per patient, providing indications for variation prioritization including a previously undiagnosed pathogenic allele in DIP2B causing global developmental delay. We propose that use of HiFi genome sequencing in unsolved rare disease cases will allow detection of unconventional diseases alleles due to loss of regulatory element activity.",
+ "publisher": "Movement disorders : official journal of the Movement Disorder Society",
+ "issn": "1531-8257",
+ "date": "2026-05-28",
+ "abstract": "",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37248219"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42205056"
},
{
"id": "pmid:37090938",
@@ -75283,6 +78543,26 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37090938"
},
+{
+ "id": "pmid:41906116",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41906116",
+ "title": "Long-read sequencing identifies complex structural variants in DMD patients.",
+ "type": "article-journal",
+ "doi": "10.1186/s12920-026-02352-3",
+ "authors": [
+ ["Yi", "Xie"],
+ ["Lijun", "Bao"],
+ ["Xuenan", "Yu"],
+ ["Yan", "Liu"]
+ ],
+ "publisher": "BMC medical genomics",
+ "issn": "1755-8794",
+ "date": "2026-03-29",
+ "abstract": "Duchenne muscular dystrophy (DMD) is an X-linked disorder caused by mutations in the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41906116"
+},
{
"id": "pmid:41691287",
"manubot_success": true,
@@ -75397,6 +78677,31 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39803454"
},
+{
+ "id": "pmid:39713478",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39713478",
+ "title": "Modulation of the JAK2-STAT3 pathway promotes expansion and maturation of human iPSCs-derived myogenic progenitor cells.",
+ "type": "article-journal",
+ "doi": "10.1101/2024.12.09.624203",
+ "authors": [
+ ["Luca", "Caputo"],
+ ["Cedomir", "Stamenkovic"],
+ ["Matthew T", "Tierney"],
+ ["Maria Sofia", "Falzarano"],
+ ["Rhonda", "Bassel-Duby"],
+ ["Alessandra", "Ferlini"],
+ ["Eric N", "Olson"],
+ ["Pier Lorenzo", "Puri"],
+ ["Alessandra", "Sacco"]
+ ],
+ "publisher": "bioRxiv : the preprint server for biology",
+ "issn": "2692-8205",
+ "date": "2024-12-10",
+ "abstract": "Generation of",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39713478"
+},
{
"id": "pmid:39251998",
"manubot_success": true,
@@ -76473,6 +79778,28 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7705851"
},
+{
+ "id": "pmid:42133999",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42133999",
+ "title": "Generation of iPSC lines from myotonic dystrophy type 1 patients with varying CTG repeat lengths.",
+ "type": "article-journal",
+ "doi": "10.1016/j.scr.2026.104013",
+ "authors": [
+ ["Thomas D", "Hoekman"],
+ ["Lisa", "Rahm"],
+ ["Silvia", "Albert"],
+ ["Derick G", "Wansink"],
+ ["Hans", "van Bokhoven"],
+ ["Ren\u00e9e H L", "Raaijmakers"]
+ ],
+ "publisher": "Stem cell research",
+ "issn": "1876-7753",
+ "date": "2026-05-10",
+ "abstract": "An expanded CTG trinucleotide repeat in the Dystrophia Myotonica Protein Kinase (DMPK) gene underpins myotonic dystrophy type 1 (DM1), an autosomal dominant neuromuscular disorder that affects almost every organ system, especially the skeletal muscle, central nervous system and the heart. In this study, we describe the generation of induced pluripotent stem cell (iPSC) lines from patient-derived fibroblasts carrying varying expanded (CTG)",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42133999"
+},
{
"id": "pmid:41996006",
"manubot_success": true,
@@ -76552,7 +79879,7 @@
"publisher": "JCI insight",
"issn": "2379-3708",
"date": "2026-03-19",
- "abstract": "Myotonic Dystrophy Type 1 (DM1) is caused by an expanded CTG repeat in the DMPK gene, resulting in mutant transcripts that form expanded CUG (CUGexp) RNA foci and sequester muscleblind-like (MBNL) RNA-binding proteins. DM1 is multisystemic with progressive worsening of disease manifestations in affected tissues. Disease progression is attributed to somatic expansion of the CTG repeats with age, resulting in production of CUGexp RNA with enhanced intrinsic toxicity due to increased MBNL sequestration. To determine the degree to which cardiac disease progression can occur independently of repeat expansion, we used a transgenic DM1 mouse model with inducible heart-specific expression of a stable, interrupted 960-CUG repeat RNA. Sustained CUGexp RNA expression caused progressive cardiac enlargement, contractile dysfunction, conduction delay, myocardial fibrosis, and reduced survival, while MBNL-dependent splicing defects remained static, consistent with the stable repeat length. We also determined the degree of reversibility after different periods of CUGexp RNA expression by shutting off the repeat-containing transgene. Suppression of CUGexp RNA expression rescued cardiac abnormalities, but reversibility declined with longer exposure to the toxic RNA. These findings demonstrate that prolonged expression of stable CUGexp RNA drives progressive cardiac pathology, revealing a mechanism of disease progression in DM1 in addition to somatic expansion.",
+ "abstract": "Myotonic dystrophy type 1 (DM1) is caused by an expanded CTG repeat in the DMPK gene, resulting in mutant transcripts that form expanded CUG (CUGexp) RNA foci and sequester muscleblind-like (MBNL) RNA-binding proteins. DM1 is multisystemic, with progressive worsening of disease manifestations in affected tissues. Disease progression is attributed to somatic expansion of the CTG repeats with age, resulting in production of CUGexp RNA with enhanced intrinsic toxicity due to increased MBNL sequestration. To determine the degree to which cardiac disease progression can occur independently of repeat expansion, we used a transgenic DM1 mouse model with inducible heart-specific expression of a stable, interrupted 960-CUG-repeat RNA. Sustained CUGexp RNA expression caused progressive cardiac enlargement, contractile dysfunction, conduction delay, myocardial fibrosis, and reduced survival, while MBNL-dependent splicing defects remained static, consistent with the stable repeat length. We also determined the degree of reversibility after different periods of CUGexp RNA expression by shutting off the repeat-containing transgene. Suppression of CUGexp RNA expression rescued cardiac abnormalities, but reversibility declined with longer exposure to the toxic RNA. These findings demonstrate that prolonged expression of stable CUGexp RNA drives progressive cardiac pathology, revealing a mechanism of disease progression in DM1 in addition to somatic expansion.",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41855125"
},
@@ -82760,6 +86087,113 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8288237"
},
+{
+ "id": "pmid:",
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/",
+ "note": "WARNING: Couldn't parse Manubot response: list index out of range"
+},
+{
+ "id": "pmid:42204984",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42204984",
+ "title": "GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia.",
+ "type": "article-journal",
+ "doi": "10.1111/cge.70184",
+ "authors": [
+ ["Eva-Maria", "Kraus"],
+ ["Johannes", "Lenz"],
+ ["Pauline", "Ploettner"],
+ ["Patricia", "Duffek"],
+ ["Jost-Julian", "Rumpf"],
+ ["Rami Abou", "Jamra"],
+ ["John", "Wiedenhoeft"],
+ ["Denny", "Popp"]
+ ],
+ "publisher": "Clinical genetics",
+ "issn": "1399-0004",
+ "date": "2026-05-28",
+ "abstract": "GAA-FGF14 ataxia (spinocerebellar ataxia 27B, SCA27B), identified in 2023, is a major cause of adult-onset autosomal dominant cerebellar ataxia (ADCA). In this study, we assessed the frequency of GAA-FGF14 ataxia in a predominantly sporadic German cohort of 107 genetically unresolved index patients using long-range PCR and nanopore sequencing. Somatic mosaicism of GAA repeat length was assessed using a custom bioinformatics pipeline based on a modified cyclic Smith-Waterman algorithm. This approach provided streamlined detection and enabled precise genotyping. Among sporadic cases, 10% had a pathogenic and 6% an intermediate repeat expansion. Across the entire cohort, 13% carried a pathogenic and 5% an intermediate repeat expansion. Diagnostic yield varied substantially by clinical presentation: 50% in cases with typical GAA-FGF14-ataxia features, 13% in patients with compatible but less characteristic features and 5% in atypical presentations. In conclusion, this study further corroborates existing evidence that GAA-FGF14 ataxia is a frequent cause of both sporadic and familial cerebellar ataxia. Given its high diagnostic yield and the limited detectability by standard short-read genome sequencing, targeted testing should be more widely implemented.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42204984"
+},
+{
+ "id": "pmid:42178418",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42178418",
+ "title": "Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS.",
+ "type": "article-journal",
+ "doi": "10.1007/s00415-026-13867-1",
+ "authors": [
+ ["David", "Pellerin"],
+ ["Felix", "Heindl"],
+ ["Andreas", "Trasch\u00fctz"],
+ ["Pablo", "Iruzubieta"],
+ ["Marie-Jos\u00e9e", "Dicaire"],
+ ["Stephan", "Zuchner"],
+ ["Annette M", "Hartmann"],
+ ["Dan", "Rujescu"],
+ ["Henry", "Houlden"],
+ ["Bernard", "Brais"],
+ ["Michael", "Strupp"],
+ ["Matthis", "Synofzik"]
+ ],
+ "publisher": "Journal of neurology",
+ "issn": "1432-1459",
+ "date": "2026-05-25",
+ "abstract": "Intronic FGF14 GAA repeat expansions cause spinocerebellar ataxia 27B (SCA27B) / GAA-FGF14 disease. Bilateral vestibulopathy (BVP) has been reported as a recurrent feature of this disease. Here, we aimed to determine whether GAA-FGF14 expansions represent a common cause of primary BVP syndromes.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42178418"
+},
+{
+ "id": "pmid:42168446",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42168446",
+ "title": "SCA27B in Brazil: frequency, phenotype and genotype-phenotype correlations.",
+ "type": "article-journal",
+ "doi": "10.1007/s00415-026-13880-4",
+ "authors": [
+ ["Amanda", "de Jesus Araujo Dias"],
+ ["Cynthia", "Silveira"],
+ ["Adriana Mendes", "Vinagre"],
+ ["Luciana Cardoso", "Bonadia"],
+ ["Nadson Bruno Serra", "Santos"],
+ ["Thiago Junqueira R", "Rezende"],
+ ["Luiza Alves", "Corazza"],
+ ["Jos\u00e9 Luiz", "Pedroso"],
+ ["Orlando Graziani P", "Barsottini"],
+ ["Fabricio Diniz", "de Lima"],
+ ["Marcondes C", "Fran\u00e7a Junior"]
+ ],
+ "publisher": "Journal of neurology",
+ "issn": "1432-1459",
+ "date": "2026-05-21",
+ "abstract": "Spinocerebellar Ataxia 27B (SCA27B) is a recently described autosomal dominant ataxia caused by uniallelic GAA intronic expansions at FGF14. It is a frequent SCA subtype in North American/European populations, accounting for\u2009>\u200920% of all SCAs in some series. Despite that, its frequency as well as phenotype in Latin America remains to be established.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42168446"
+},
+{
+ "id": "pmid:42090775",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42090775",
+ "title": "Challenges in the diagnosis of spinocerebellar ATAXIA 27B.",
+ "type": "article-journal",
+ "doi": "10.1016/j.jns.2026.125969",
+ "authors": [
+ ["N\u00faria Caballol", "Pons"],
+ ["Alejandro Peral", "Quir\u00f3s"],
+ ["Anna", "Planas-Ballv\u00e9"],
+ ["Paula Lombardo", "Del Toro"],
+ ["Imma Hernan", "Sendra"],
+ ["Asunci\u00f3n \u00c1vila", "Rivera"]
+ ],
+ "publisher": "Journal of the neurological sciences",
+ "issn": "1878-5883",
+ "date": "2026-04-30",
+ "abstract": "To characterize the clinical, radiologic, and genetic spectrum of patients with (GAA) repeat expansions in FGF14 gene and to analyze diagnostic challenges associated with spinocerebellar ataxia type 27B (SCA27B).",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42090775"
+},
{
"id": "pmid:42055934",
"manubot_success": true,
@@ -82779,32 +86213,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42055934"
},
-{
- "id": "pmid:42044943",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42044943",
- "title": "Long-term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the FGF14 GAA expansion.",
- "type": "article-journal",
- "doi": "10.1016/j.nrleng.2026.501924",
- "authors": [
- ["E", "Mu\u00f1oz"],
- ["M", "De la Cruz-Puebla"],
- ["D", "Pellerin"],
- ["C", "Painous"],
- ["M I", "\u00c1lvarez-Mora"],
- ["M J", "Dicaire"],
- ["L", "Rodr\u00edguez-Revenga"],
- ["M C", "Danzi"],
- ["S", "Zuchner"],
- ["B", "Brais"]
- ],
- "publisher": "Neurologia",
- "issn": "2173-5808",
- "date": "2026-05-01",
- "abstract": "Ataxia with downbeat nystagmus (A-DBN) has recently been associated with an intronic GAA repeat expansion in the FGF14 gene. The objectives of our study were to describe the clinical, radiological, and genetic findings, as well as the long-term response to aminopyridine (AP) treatment, in a cohort of patients with ataxia with DBN.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42044943"
-},
{
"id": "pmid:41698164",
"manubot_success": true,
@@ -84528,30 +87936,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42041789"
},
-{
- "id": "pmid:42001465",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42001465",
- "title": "Large-scale analysis of FMR1 CGG repeat length and risk of premature ovarian insufficiency in over 92\u2009000 women.",
- "type": "article-journal",
- "doi": "10.1093/humrep/deag061",
- "authors": [
- ["Emily J", "Morbey"],
- ["Felix R", "Day"],
- ["Daniel J", "Wright"],
- ["Jack R A", "Murzynowski"],
- ["Sinead M", "McGlacken-Byrne"],
- ["Anna", "Murray"],
- ["Ken K", "Ong"],
- ["John R B", "Perry"]
- ],
- "publisher": "Human reproduction (Oxford, England)",
- "issn": "1460-2350",
- "date": "2026-04-19",
- "abstract": "Does FMR1 repeat length confer clinically meaningful predictive value for premature ovarian insufficiency (POI)?",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42001465"
-},
{
"id": "pmid:41952192",
"manubot_success": true,
@@ -89445,6 +92829,31 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30211570"
},
+{
+ "id": "pmid:30197656",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/30197656",
+ "title": "Curvilinear Association Between Language Disfluency and",
+ "type": "article-journal",
+ "doi": "10.3389/fgene.2018.00344",
+ "authors": [
+ ["Jessica", "Klusek"],
+ ["Anna", "Porter"],
+ ["Leonard", "Abbeduto"],
+ ["Tatyana", "Adayev"],
+ ["Flora", "Tassone"],
+ ["Marsha R", "Mailick"],
+ ["Anne", "Glicksman"],
+ ["Bridgette L", "Tonnsen"],
+ ["Jane E", "Roberts"]
+ ],
+ "publisher": "Frontiers in genetics",
+ "issn": "1664-8021",
+ "date": "2018-08-24",
+ "abstract": "Historically, investigations of",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30197656"
+},
{
"id": "pmid:30173918",
"manubot_success": true,
@@ -97880,25 +101289,9 @@
},
{
"id": "pmid:8826482",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/8826482",
- "title": "Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus.",
- "type": "article-journal",
- "doi": "10.1002/(sici)1096-8628(19960712)64:1<234::aid-ajmg42>3.0.co;2-l",
- "authors": [
- ["M", "Syrrou"],
- ["P C", "Patsalis"],
- ["I", "Georgiou"],
- ["M I", "Hadjimarcou"],
- ["C D", "Constantinou-Deltas"],
- ["G", "Pagoulatos"]
- ],
- "publisher": "American journal of medical genetics",
- "issn": "0148-7299",
- "date": "1996-07-12",
- "abstract": "The expansion of the trinucleotide repeat (CGG)n in successive generations through maternal meiosis is the cause of fragile X syndrome. Analysis of CA repeat polymorphisms flanking the FMR-1 gene provides evidence of a limited number of \"founder\" chromosomes and predisposing high-risk haplotypes related to the mutation. To investigate the origin of mutations in the fragile X syndrome in the Hellenic populations of Greece and Cyprus, we studied the alleles and haplotypes at DXS548 and FRAXAC2 loci of 16 independent fragile X and 70 normal control chromosomes. In addition, we studied 191 unrelated normal X chromosomes for the distribution and frequencies of CGG alleles. At DXS548, 6 alleles were found, 2 (194 and 196) of which were represented on fragile X chromosomes. At FRAXAC2, 6 alleles were found, 4 of which were present on fragile X chromosomes. Sixteen haplotypes were identified, but only 5 were present on fragile X chromosomes. The highest number of CGG repeats (> or = 33) were associated with haplotypes 194-147, 194-151, 194-153, and 204-155. The data provide evidence for founder chromosomes and high-risk haplotypes in the Hellenic population.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8826482"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/8826482",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:8826482']' timed out after 3 seconds"
},
{
"id": "pmid:8826479",
@@ -98728,6 +102121,39 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7633459"
},
+{
+ "id": "pmid:42134333",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42134333",
+ "title": "Therapeutic activity of a hematopoietic stem cell-delivered cell-penetrating frataxin in Friedreich's ataxia models.",
+ "type": "article-journal",
+ "doi": "10.1016/j.xcrm.2026.102803",
+ "authors": [
+ ["Jeffrey", "Pido-Lopez"],
+ ["Shefta E", "Moula"],
+ ["Enas", "Shaban"],
+ ["Konstantinos", "Stamatiou"],
+ ["Bethan J", "Critchley"],
+ ["Thomas E", "Whittaker"],
+ ["Stina", "Svensson"],
+ ["Sara", "Anjomani-Virmouni"],
+ ["Ester", "Kalef-Ezra"],
+ ["Lucinda", "Carr"],
+ ["Jane", "Hassel"],
+ ["Adrian J", "Thrasher"],
+ ["Manju A", "Kurian"],
+ ["Ian A", "Blair"],
+ ["Teerapat", "Rojsajjakul"],
+ ["Giorgia", "Santilli"],
+ ["Arturo", "Sala"]
+ ],
+ "publisher": "Cell reports. Medicine",
+ "issn": "2666-3791",
+ "date": "2026-05-13",
+ "abstract": "Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by a GAA repeat expansion in the frataxin (FXN) gene, leading to reduced frataxin, a protein essential for mitochondrial function. We developed a replacement strategy using a fusion protein containing secretion and cell-penetrating sequences fused to the frataxin precursor. In vitro studies confirmed secretion, cellular penetration, mitochondrial localization, and rescue of biochemical defects and apoptosis in cells from patients with FRDA. The therapeutic cDNA was cloned into a lentiviral vector and used to transduce hematopoietic stem and progenitor cells (HSPCs) from YG8sR mice, an FRDA model. Autologous transplantation of modified HSPCs produced stable peptide secretion in the bloodstream and delayed the onset of motor coordination symptoms, accompanied by improved biochemical and anatomical parameters. Patient-derived CD34",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42134333"
+},
{
"id": "pmid:42018061",
"manubot_success": true,
@@ -105114,32 +108540,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42057638"
},
-{
- "id": "pmid:41975469",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41975469",
- "title": "CGG Repeat Expansion in GIPC1 is Associated with Childhood-Onset Hereditary Ataxia.",
- "type": "article-journal",
- "doi": "10.1002/mds.70305",
- "authors": [
- ["Ying", "Wu"],
- ["Taoyun", "Ji"],
- ["Quanzhen", "Tan"],
- ["Xingzhi", "Chang"],
- ["Shirang", "Pan"],
- ["Jing", "An"],
- ["Enrui", "Chen"],
- ["Yuwu", "Jiang"],
- ["Jianwen", "Deng"],
- ["Cuijie", "Wei"]
- ],
- "publisher": "Movement disorders : official journal of the Movement Disorder Society",
- "issn": "1531-8257",
- "date": "2026-04-13",
- "abstract": "Hereditary ataxias are genetically heterogeneous; however, despite major advances in next-generation sequencing technologies, 20%-54% of childhood-onset cases remain genetically undiagnosed.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41975469"
-},
{
"id": "pmid:41888971",
"manubot_success": true,
@@ -106070,6 +109470,225 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12116248"
},
+{
+ "id": "pmid:42210302",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42210302",
+ "title": "Temporal single-cell atlas of full-length Huntington's disease mouse model defines stage-specific signatures of corticostriatal dysfunction.",
+ "type": "article-journal",
+ "doi": "10.1186/s13024-026-00960-2",
+ "authors": [
+ ["Ashley B", "Robbins"],
+ ["Paul T", "Ranum"],
+ ["Icnelia", "Huerta-Ocampo"],
+ ["Michael", "Kuckyr"],
+ ["Beverly L", "Davidson"]
+ ],
+ "publisher": "Molecular neurodegeneration",
+ "issn": "1750-1326",
+ "date": "2026-05-28",
+ "abstract": "Huntington's disease (HD) involves progressive corticostriatal dysfunction, yet the temporal dynamics and cell type-specific vulnerability patterns remain incompletely understood. While recent single-cell studies in rapidly progressing models have revealed early developmental and regional changes, temporal profiling distinguishing pathogenic mechanisms from normal aging in full-length HTT models remains lacking. Resolving stage-specific temporal dynamics across interconnected striatal and cortical neuronal populations over protracted time is essential for identifying drivers of cellular dysfunction.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42210302"
+},
+{
+ "id": "pmid:42202221",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42202221",
+ "title": "Clinical implications of loss of interruption variants for diagnosis, genetic counselling, and clinical trials in Huntington's disease.",
+ "type": "article-journal",
+ "doi": "10.1177/18796397261443135",
+ "authors": [
+ ["Hailey", "Findlay Black"],
+ ["Jessica", "Levesley"],
+ ["Chris", "Kay"],
+ ["Stephanie", "Bortnick"],
+ ["Kyla", "Javier"],
+ ["Michael R", "Hayden"]
+ ],
+ "publisher": "Journal of Huntington's disease",
+ "issn": "1879-6400",
+ "date": "2026-05-27",
+ "abstract": "Age of onset in Huntington disease (HD) is influenced by",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42202221"
+},
+{
+ "id": "pmid:42185880",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42185880",
+ "title": "DNA methylation profiling in Huntington's disease reveals disease associated changes in the striatum.",
+ "type": "article-journal",
+ "doi": "10.1186/s13148-026-02082-4",
+ "authors": [
+ ["Gregory", "Wheildon"],
+ ["Adam R", "Smith"],
+ ["Luke", "Weymouth"],
+ ["Joshua", "Harvey"],
+ ["Morteza", "Kouhsar"],
+ ["Lachlan F", "MacBean"],
+ ["Claire", "Troakes"],
+ ["Ehsan", "Pishva"],
+ ["Rebecca G", "Smith"],
+ ["Katie", "Lunnon"]
+ ],
+ "publisher": "Clinical epigenetics",
+ "issn": "1868-7083",
+ "date": "2026-05-26",
+ "abstract": "Huntington's disease is caused by a trinucleotide CAG repeat expansion in the HTT gene. Despite displaying autosomal dominance, phenotypic variation exists amongst mutation carriers, in particular relating to the age that symptoms first occur. This variation is primarily driven by an inverse relationship between CAG expansion size and age of symptom onset. However, the majority of variation in age of onset that is independent of CAG repeat length is thought to be driven by environmental influences. Since DNA methylation can be altered by environmental factors, and as methylomic variation is reported in other neurodegenerative diseases, it may offer a potential mechanism underlying disease manifestation.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42185880"
+},
+{
+ "id": "pmid:42183198",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42183198",
+ "title": "The pathological Huntingtin CAG triplet expansion differentially affects the diagnosis of systemic and organ-specific autoimmune diseases.",
+ "type": "article-journal",
+ "doi": "10.3389/fimmu.2026.1689962",
+ "authors": [
+ ["Moritz", "Heyd"],
+ ["G Bernhard", "Landwehrmeyer"],
+ ["Jan", "Lewerenz"]
+ ],
+ "publisher": "Frontiers in immunology",
+ "issn": "1664-3224",
+ "date": "2026-05-08",
+ "abstract": "In Huntington's disease (HD), signs of inflammatory activation are found in the brain, cerebrospinal fluid, and blood. HD monocytes are reported to be hyperreactive",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42183198"
+},
+{
+ "id": "pmid:42182232",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42182232",
+ "title": "C57BL/6 BAC-CAG Huntington's disease mice show somatic CAG expansion and responses to small interfering RNAs comparable to the FVB strain.",
+ "type": "article-journal",
+ "doi": "10.64898/2026.05.08.723329",
+ "authors": [
+ ["Jillian", "Belgrad"],
+ ["Ashley", "Summers"],
+ ["Samuel", "Hildebrand"],
+ ["Ellen", "Sapp"],
+ ["Eric", "Luu"],
+ ["Nozomi", "Yamada"],
+ ["Dan", "O'Reilly"],
+ ["Thomas F", "Vogt"],
+ ["David", "Howland"],
+ ["X William", "Yang"],
+ ["Marian", "DiFiglia"],
+ ["Neil", "Aronin"],
+ ["Anastasia", "Khvorova"]
+ ],
+ "publisher": "bioRxiv : the preprint server for biology",
+ "issn": "2692-8205",
+ "date": "2026-05-12",
+ "abstract": "Huntington's disease (HD) is a neurodegenerative disorder caused by CAG repeat expansion in the huntingtin (HTT) gene, with longer repeats linked to earlier onset. Somatic CAG expansion, particularly in the striatum, contributes to disease progression and is influenced by HTT biology and genetic modifiers. Modulating somatic expansion is emerging as a promising approach to slow or prevent HD, and mouse models have been crucial for preclinical testing of different therapeutic strategies. The BAC-CAG model, developed on the FVB strain, has been used to study somatic expansion of human expanded HTT. However, comparisons with other key HD mouse models have been limited by differences in genetic background, as many other models are on the C57BL/6 strain. The BAC-CAG model has now been developed on a C57BL/6 background. To determine whether the C57BL/6 BAC-CAG model can be used to study and modulate somatic expansion, we compared CAG expansion in mice on C57BL/6 or FVB backgrounds, with and without intraventricular divalent small interfering RNAs (siRNA) targeting HD modifiers MutS homolog 3 (MSH3) and HTT. Both strains exhibited robust, comparable somatic expansion over two months, which was blocked by MSH3-, but not HTT-, targeted siRNA. RNA sequencing identified gene expression differences primarily in pseudogenes, with no differences in endogenous",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42182232"
+},
+{
+ "id": "pmid:42181265",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42181265",
+ "title": "Huntingtin polyglutamine expansions misdirect axonal transport by perturbing motor and adaptor recruitment.",
+ "type": "article-journal",
+ "doi": "10.1016/j.isci.2026.115748",
+ "authors": [
+ ["Emily N P", "Prowse"],
+ ["Brooke A", "Turkalj"],
+ ["Muriel", "S\u00e9bastien"],
+ ["Lale", "Gursu"],
+ ["Daniel", "Beaudet"],
+ ["Jia", "Feng"],
+ ["Chengqian", "Zhou"],
+ ["Heidi M", "McBride"],
+ ["Gary J", "Brouhard"],
+ ["Mahmoud A", "Pouladi"],
+ ["Adam G", "Hendricks"]
+ ],
+ "publisher": "iScience",
+ "issn": "2589-0042",
+ "date": "2026-04-17",
+ "abstract": "Huntington's disease is caused by polyglutamine (polyQ) expansions in huntingtin (HTT). PolyQ lengths >35Q lead to neurodegeneration, and longer repeats correspond to earlier onset of symptoms. HTT scaffolds kinesin-1 and dynein to organelles directly and through adaptors. We tracked BDNF vesicles, mitochondria, and lysosomes in stem-cell-derived neurons engineered to express HTT with polyQ lengths of 30, 45, 65, and 81. BDNF endosomes were more motile in HTT-45Q and HTT-65Q neurons and misdirected toward the distal tip in HTT-81Q neurons. Under neuroinflammatory stress, polyQ expansions resulted in fewer BDNF cargoes and more lysosomes. We next isolated BDNF endosomes from neurons and counted the associated motors and adaptors. We found BDNF endosomes associated with greater numbers of kinesin-1 and HAP1 molecules in HTT-81Q neurons. Together, these results show that polyQ expansions in HTT alter the motors and adaptors recruited to cargoes, resulting in dysregulated transport and responses to neuroinflammatory stress.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42181265"
+},
+{
+ "id": "pmid:42152675",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42152675",
+ "title": "Understanding Huntington's Disease: Epidemiology, Mechanisms, and Modeling Approaches.",
+ "type": "article-journal",
+ "doi": "10.2174/0118715273413803251211091628",
+ "authors": [
+ ["Satya", "Prakash"],
+ ["Neha", "Kumari"],
+ ["Lovedeep", "Singh"],
+ ["Kamal", "Shah"],
+ ["Hitesh Kumar", "Dewangan"],
+ ["Deepika", "Bhatia"]
+ ],
+ "publisher": "CNS & neurological disorders drug targets",
+ "issn": "1996-3181",
+ "date": "2026-05-11",
+ "abstract": "Huntington's disease (HD) is a monogenic, autosomal dominant neurodegenerative disorder. Huntington's disease is caused by a CAG trinucleotide repeat expansion in exon 1 of the huntingtin gene, which is located on the short arm of chromosome 4. Although HD has a well-defined genetic cause, the underlying molecular and cellular mechanisms remain complex and incompletely understood. This review examines the established functions of normal huntingtin protein and discusses the harmful consequences of CAG repeat expansions, which result in abnormally extended polyglutamine tracts. In this review, we offer a modern perspective on the molecular biology of HD, using it as a key example of polyglutamine disorders. We explore how mutations in the huntingtin protein disrupt its structure, leading to problems in how cells function and respond to stress, particularly in neurons that are already vulnerable. We highlight the main pathways that contribute to the disease, including issues with autophagy, mitochondrial production, lysosomal function, transport of proteins and organelles, inflammation, oxidative stress, and gene regulation by transcription factors. While much has been learned, some aspects of how the disease develops are still unclear. This concise overview summarizes what is currently known about the normal role of the huntingtin protein and the latest discoveries related to how Huntington's disease progresses at the molecular level.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42152675"
+},
+{
+ "id": "pmid:42109206",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42109206",
+ "title": "Induced pluripotent stem cells from a transgenic minipig model of Huntington's disease reveal early metabolic changes.",
+ "type": "article-journal",
+ "doi": "10.1242/dmm.052585",
+ "authors": [
+ ["Irena", "Rysankova"],
+ ["David", "Sekac"],
+ ["Hana", "Hansikova"],
+ ["Katerina Vodickova", "Kepkova"],
+ ["Petr", "Vodicka"],
+ ["Michaela", "Vaskovicova"],
+ ["Marie", "Altmanova"],
+ ["Stefan", "Juhas"],
+ ["Jana", "Juhasova"],
+ ["Eliska", "Taborska"],
+ ["Jiri", "Klempir"],
+ ["Jan", "Motlik"],
+ ["Jiri", "Klima"],
+ ["Lars", "Eide"],
+ ["Zdenka", "Ellederova"]
+ ],
+ "publisher": "Disease models & mechanisms",
+ "issn": "1754-8411",
+ "date": "2026-05-11",
+ "abstract": "Huntington's disease (HD) is a neurodegenerative autosomal dominant hereditary disease caused by a CAG triplet repeat expansion mutation in the gene encoding the huntingtin (HTT) protein. The main feature of HD is the loss of striatal neurons, accompanied by metabolic and transcriptional alterations in both neural and peripheral tissues. Induced pluripotent stem cells (iPSCs) derived from a transgenic HD (TgHD) minipig model expressing a mutant HTT construct were generated to investigate early metabolic, antioxidant and DNA integrity changes associated with HD development. Gene expression analysis showed increased expression of vascular endothelial growth factor (VEGF), pyruvate dehydrogenase kinase 1 (PDK1) and glutamine-oxaloacetic transaminase 1 (GOT1), implying early metabolic alteration in TgHD iPSCs. Moreover, upregulated FANCD2/FANCI-associated nuclease 1 (FAN1) expression indicated genotoxic stress linked to early HD development. These findings suggest metabolic shifts and putative genotoxic events in the pluripotent stem cell state of the TgHD model and point to early effect of the HD mutation. The model may be suitable for evaluating potential cell therapy and in vitro differentiation of iPSCs to neurons and other cells affected in HD.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42109206"
+},
+{
+ "id": "pmid:42091595",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42091595",
+ "title": "Double strand breaks drive toxicity in a Huntington's disease mouse model with or without somatic expansion.",
+ "type": "article-journal",
+ "doi": "10.1038/s41467-026-72382-z",
+ "authors": [
+ ["Aris A", "Polyzos"],
+ ["Ana", "Cheong"],
+ ["Jung Hyun", "Yoo"],
+ ["Lana", "Blagec"],
+ ["Zachary D", "Nagel"],
+ ["Cynthia T", "McMurray"]
+ ],
+ "publisher": "Nature communications",
+ "issn": "2041-1723",
+ "date": "2026-05-06",
+ "abstract": "Genome-wide association studies (GWAS) have provided strong evidence that modifiers of CAG tract length have a crucial influence on Huntington disease onset, but somatic expansion alone may not be sufficient to drive neuronal death. Here, we report that DSBs drive neuropathology in male HdhQ(150/150) mice, regardless of somatic expansion of the inherited disease allele. DSBs and somatic expansion occur simultaneously in the HD brain, but the two types of DNA damage drive disease by distinct mechanisms. The site-specific increases in CAG tract length are driven by active mismatch repair (MMR), while DSBs occur genome-wide and are driven by mutant huntingtin-mediated suppression of nonhomologous joining of DNA broken ends. DSBs and transcriptional dysfunction occur in animals that cannot somatically expand their inherited allele. Conversely, suppression of DSBs is sufficient to reverse neuropathology even when somatic expansion is active. We propose that CAG expansion and DSBs promote downstream neuronal pathology as separable drivers. The disease-length CAG tract leads to early inhibition of DSBR and accumulating DSBs over time ultimately kill neurons.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42091595"
+},
{
"id": "pmid:42007924",
"manubot_success": true,
@@ -106091,60 +109710,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42007924"
},
-{
- "id": "pmid:41959367",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41959367",
- "title": "Scn4b Modulates Huntington's Disease Phenotype Severity in vivo.",
- "type": "article-journal",
- "doi": "10.64898/2026.03.08.708251",
- "authors": [
- ["Suphinya", "Sathitloetsakun"],
- ["Vanessa", "Farrell"],
- ["S Sebastian", "Pineda"],
- ["Hyeseung", "Lee"],
- ["Jung Hoon", "Shin"],
- ["Francisco J", "Garcia"],
- ["Raleigh M", "Linville"],
- ["Manolis", "Kellis"],
- ["Veronica A", "Alvarez"],
- ["Myriam", "Heiman"]
- ],
- "publisher": "bioRxiv : the preprint server for biology",
- "issn": "2692-8205",
- "date": "2026-03-10",
- "abstract": "Although it has been known for over 30 years that CAG trinucleotide repeat expansions in the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41959367"
-},
-{
- "id": "pmid:41926793",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41926793",
- "title": "Extensive transcriptomic changes in cellular and animal models of Huntington's disease depending on the length of CAG repeats in the exon 1 of the HTT gene.",
- "type": "article-journal",
- "doi": "10.1016/j.bbrc.2026.153711",
- "authors": [
- ["Aneta", "Szulc"],
- ["Beata M", "Walter"],
- ["Lidia", "Gaffke"],
- ["Karolina", "Wi\u015bniewska"],
- ["Magdalena", "\u017babi\u0144ska"],
- ["Estera", "Rintz"],
- ["Zuzanna", "Cyske"],
- ["Micha\u0142", "Grabski"],
- ["Oleksandr", "Pankiv"],
- ["Magdalena", "Podlacha"],
- ["Karolina", "Pierzynowska"],
- ["Grzegorz", "W\u0119grzyn"]
- ],
- "publisher": "Biochemical and biophysical research communications",
- "issn": "1090-2104",
- "date": "2026-04-01",
- "abstract": "Although Huntington's disease - a severe, inherited, neurodegenerative disorder - is primarily caused by a pathological variant of the HTT gene (encoding huntingtin protein) which is characterized by the extension of CAG repeats in the 1st exon exceeding 36 triplets, the biochemical mechanisms underlying the disease remain poorly understood. Mutant huntingtin forms toxic aggregates in cells; however, the clinical symptoms usually appear in adulthood. Recent reports suggested that somatic expansion of CAG repeats to more than 150 copies may be responsible for the pathogenicity and could explain the delayed onset of symptoms in this inherited disease. Nevertheless, it remains unclear why such an expansion occurs only in cells bearing HTT alleles with the original number of CAG repeats over 36. Here, we used cellular models of Huntington disease, consisting of human HEK293\u202fcell lines with either normal (16/17) or pathogenic (41, 53, 84) numbers of CAG repeats in exon 1 of HTT, as well as the R6/1 mouse model. Using AlphaFold3, protein structures were predicted for the human huntingtin variants, revealing significant changes in pathogenic forms compared to the normal form. Transcriptomic analyses indicated that expression of a few thousand genes is significantly dysregulated in cells with increased CAG repeat numbers. Products of these genes are involved in various processes, such as apoptosis, autophagy, and DNA repair and recombination. Thus, we suggest that stress conditions, caused by dysregulation of cellular processes, might facilitate abnormal somatic expansion of CAG repeats, contrary to cells bearing normal HTT alleles.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41926793"
-},
{
"id": "pmid:41916314",
"manubot_success": true,
@@ -106260,200 +109825,39 @@
},
{
"id": "pmid:41849610",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41849610",
- "title": "Self-inactivating AAV-CRISPR at different ages enables sustained amelioration of Huntington's disease deficits in BAC226Q mice.",
- "type": "article-journal",
- "doi": "10.1126/sciadv.aea8052",
- "authors": [
- ["Yuanyi", "Dai"],
- ["Zuliayeti", "Abudujielili"],
- ["Yunyi", "Ding"],
- ["Wanping", "Huang"],
- ["Jianhang", "Yin"],
- ["Liqiong", "Ou"],
- ["Jiazhi", "Hu"],
- ["Sushuang", "Zheng"],
- ["Chenjian", "Li"]
- ],
- "publisher": "Science advances",
- "issn": "2375-2548",
- "date": "2026-03-18",
- "abstract": "Huntington's disease (HD) is a monogenic autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in exon 1 of the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41849610"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/41849610",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:41849610']' timed out after 3 seconds"
},
{
"id": "pmid:41849583",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41849583",
- "title": "Lowering the",
- "type": "article-journal",
- "doi": "10.1126/scitranslmed.adw2495",
- "authors": [
- ["Aikaterini Smaragdi", "Papadopoulou"],
- ["Julia", "Alterman"],
- ["Christian", "Landles"],
- ["Edward J", "Smith"],
- ["Faith", "Conroy"],
- ["Jemima", "Phillips"],
- ["Maria", "Canibano-Pico"],
- ["Iulia M", "Nita"],
- ["Georgina F", "Osborne"],
- ["Arzo", "Iqbal"],
- ["Sarah G", "Aldous"],
- ["Marie K", "Bondulich"],
- ["Casandra", "Gomez-Paredes"],
- ["Kirupa", "Sathasivam"],
- ["Daniel", "O'Reilly"],
- ["Dimas", "Echeverria"],
- ["Konstantin", "Bobkov"],
- ["Jonathan R", "Greene"],
- ["Neil", "Aronin"],
- ["Anastasia", "Khvorova"],
- ["Gillian P", "Bates"]
- ],
- "publisher": "Science translational medicine",
- "issn": "1946-6242",
- "date": "2026-03-18",
- "abstract": "Lowering",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41849583"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/41849583",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:41849583']' timed out after 3 seconds"
},
{
"id": "pmid:41841355",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41841355",
- "title": "Discovery and Optimization of Thienopyrazine RNA-Splicing Modulators for the Treatment of Huntington's Disease.",
- "type": "article-journal",
- "doi": "10.1021/acs.jmedchem.6c00224",
- "authors": [
- ["Chaofan", "Xu"],
- ["Neeta", "Abraham"],
- ["Nupur", "Bansal"],
- ["Philippe N", "Bolduc"],
- ["Patrick", "Cullen"],
- ["Thomas M", "Carlile"],
- ["Yirui", "Chen"],
- ["Colin K", "Choi"],
- ["Rachelle", "Driscoll"],
- ["Eric", "Stefan"],
- ["Christina M", "Gallo"],
- ["Zhen", "Gao"],
- ["Catherine L", "Guardado"],
- ["Guilherme", "Guimaraes"],
- ["James", "Harvey"],
- ["Sarah", "Huff"],
- ["Dann", "Huh"],
- ["Jessica", "Hurt"],
- ["Melissa M", "Kemp"],
- ["Kwang Soo", "Lee"],
- ["Joon", "Lee"],
- ["Mukesh", "Lulla"],
- ["Soumya", "Negi"],
- ["Marta", "Nevalainen"],
- ["Emily A", "Peterson"],
- ["Thomas J", "Purgett"],
- ["Joseph C", "Santoro"],
- ["Daniel R", "Smith"],
- ["Andreas", "Weihofen"],
- ["Zain", "Yousaf"],
- ["Magnus", "Pfaffenbach"]
- ],
- "publisher": "Journal of medicinal chemistry",
- "issn": "1520-4804",
- "date": "2026-03-17",
- "abstract": "Huntington's disease (HD) is a progressive neurodegenerative disorder caused by a CAG-repeat expansion in the Huntington gene (HTT). Herein, we describe the discovery of a series of HTT pre-mRNA-splicing modulators that promote the inclusion of a cryptic stop codon that in turn lowers levels of mutant Huntington protein (mHTT). Optimization of the starting thienopyridine amide core resulted in the discovery of the potent, CNS-penetrant, selective, and orally bioavailable HTT-splicing modulator BIO-6553. This lead compound is structurally distinct from existing splicing modulators, demonstrated significant HTT-lowering in both human cells and mouse YAC128 models, and has an attractive off-target profile from RASL- and RNA-seq analysis.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41841355"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/41841355",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:41841355']' timed out after 3 seconds"
},
{
"id": "pmid:41838909",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41838909",
- "title": "High-affinity, structure-validated and selective macrocyclic peptide tools for chemical biology studies of Huntingtin.",
- "type": "article-journal",
- "doi": "10.1073/pnas.2520462123",
- "authors": [
- ["Rebeka", "Fanti"],
- ["Esther", "Wolf"],
- ["Tatsuya", "Ikenoue"],
- ["Justin C", "Deme"],
- ["Swati", "Balakrishnan"],
- ["Brandon A", "Keith"],
- ["Matthew G", "Alteen"],
- ["Renu", "Chandrasekaran"],
- ["Manisha", "Yadav"],
- ["Ritika", "Bhajiawala"],
- ["Suzanne", "Ackloo"],
- ["Jia", "Feng"],
- ["Mahmoud A", "Pouladi"],
- ["Aled M", "Edwards"],
- ["Derek J", "Wilson"],
- ["Susan M", "Lea"],
- ["Hiroaki", "Suga"],
- ["Rachel J", "Harding"]
- ],
- "publisher": "Proceedings of the National Academy of Sciences of the United States of America",
- "issn": "1091-6490",
- "date": "2026-03-16",
- "abstract": "Huntington's disease (HD) is a fatal neurodegenerative disorder caused by a Cytosine-Adenosine-Guanine (CAG) repeat expansion in the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41838909"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/41838909",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:41838909']' timed out after 3 seconds"
},
{
"id": "pmid:41828602",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41828602",
- "title": "A Two-Track Model of Huntington's Disease Pathology: Striatal Atrophy Mediates Maladaptive Immune Dysregulation.",
- "type": "article-journal",
- "doi": "10.3390/ijms27052384",
- "authors": [
- ["H Jeremy", "Bockholt"],
- ["Jordan D", "Clemsen"],
- ["Bradley T", "Baker"],
- ["Vince D", "Calhoun"],
- ["Jane S", "Paulsen"]
- ],
- "publisher": "International journal of molecular sciences",
- "issn": "1422-0067",
- "date": "2026-03-04",
- "abstract": "Huntington's disease (HD) is characterized by progressive striatal atrophy and complex proteomic changes in the central nervous system. Using the ultrasensitive Next-Gen Ultra-Sensitive Immunoassay (NULISA) proteomic platform, we analyzed cerebrospinal fluid (CSF) from 88 persons with HD to dissect the biological correlates of gray matter loss. Our findings reveal a distinct \"Two-Track\" model of pathology. The first track, marked by the axonal damage protein neurofilament light chain (NEFL), showed a strong inverse correlation with putamen volume (Pearson",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41828602"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/41828602",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:41828602']' timed out after 3 seconds"
},
{
"id": "pmid:41786746",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41786746",
- "title": "USP7 deubiquitinase stabilizes FAN1 to support DNA crosslink repair and suppress CAG repeat expansion.",
- "type": "article-journal",
- "doi": "10.1038/s41467-026-70051-9",
- "authors": [
- ["Giulio", "Collotta"],
- ["Marco", "Gatti"],
- ["Irina-Maria", "Ungureanu"],
- ["Vanessa", "van Ackeren"],
- ["Emilie", "Rannou"],
- ["Francesca", "Vivalda"],
- ["Diego", "Gomez Vieito"],
- ["Keri M", "Fishwick"],
- ["Christine", "von Aesch"],
- ["Antonio", "Porro"],
- ["Kyra", "Ungerleider"],
- ["Ailin", "Heidari"],
- ["Rapha\u00ebl", "Gu\u00e9rois"],
- ["Rachel J", "Harding"],
- ["Sylvain", "Bischof"],
- ["Gabriel", "Balmus"],
- ["Alessandro A", "Sartori"]
- ],
- "publisher": "Nature communications",
- "issn": "2041-1723",
- "date": "2026-03-06",
- "abstract": "Human FAN1 is a structure-specific endonuclease implicated in the repair of DNA interstrand crosslinks (ICLs) and the excision of extrahelical CAG repeats-whose pathological expansion underlies Huntington's disease (HD), a progressive and currently incurable neurodegenerative disorder. However, mechanisms of post-translational regulation of FAN1 are still largely unknown. Here, we identify the ubiquitin-specific protease 7 (USP7) as an interactor of FAN1. USP7 stabilizes FAN1 protein levels in a deubiquitination-dependent manner, preventing FAN1 from proteasomal degradation. Consequently, we demonstrate that USP7 depletion leads to reduced chromatin association of FAN1 and increased cellular hypersensitivity following ICL damage. Moreover, loss of USP7 accelerates CAG repeat expansion in an RPE-1 cell model stably expressing mutant huntingtin (mHTT) exon 1 containing 129 CAG repeats (RPE-1",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41786746"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/41786746",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:41786746']' timed out after 3 seconds"
},
{
"id": "pmid:41770933",
@@ -106496,58 +109900,15 @@
},
{
"id": "pmid:41741274",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41741274",
- "title": "Silmitasertib, an FDA-designated orphan CK2 inhibitor, ameliorates neuropathology and motor dysfunction in a Huntington's disease mouse model.",
- "type": "article-journal",
- "doi": "10.1016/j.neurot.2026.e00859",
- "authors": [
- ["Ross J", "Pelzel"],
- ["Miaya", "Herbst"],
- ["Nicholas B", "Rozema"],
- ["Melissa A", "Solem"],
- ["Rocio", "Gomez-Pastor"]
- ],
- "publisher": "Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics",
- "issn": "1878-7479",
- "date": "2026-02-24",
- "abstract": "Huntington's disease (HD) is a devastating autosomal dominant neurodegenerative disease that manifests with progressive motor, cognitive, and psychological impairments. HD is caused by a CAG (glutamine) repeat expansion in the huntingtin (HTT) gene, leading to the misfolding and aggregation of mutant HTT protein (mHTT) and the preferential degeneration of the striatum. Previously in our lab, we identified Protein Kinase CK2 as an important kinase involved in the pathophysiology of HD. Specifically, the levels of the alpha prime catalytic subunit of CK2 (CK2\u03b1') are increased in HD, and genetic depletion of CK2\u03b1' in HD mice results in improved motor behavior, decreased mutant Htt aggregation, and improved neuronal function. Silmitasertib (CX-4945) is an FDA designated orphan drug that inhibits CK2. This study aims to investigate whether CX-4945 treatment ameliorates HD pathology. We treated prodromal and late symptomatic HD mice, and used a variety of immunohistochemical, biochemical, physiological and behavioral approaches. We found that CX-4945 presented benefits in the amelioration of HD pathophysiology in both treated groups. Importantly, we found CX-4945 decreased mHtt aggregation, increased DARPP-32 protein levels and excitatory synapse density, restored homeostatic astrocyte phenotypes and ameliorated neuroinflammation and microgliosis, altogether resulting in improved motor behavior. These results support CX-4945 as a strong candidate for a targeted therapy to treat HD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41741274"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/41741274",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:41741274']' timed out after 3 seconds"
},
{
"id": "pmid:41736445",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41736445",
- "title": "The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington disease.",
- "type": "article-journal",
- "doi": "10.1111/bpa.70088",
- "authors": [
- ["Sanaz", "Gabery"],
- ["Sofia", "Bergh"],
- ["Chrisovalantou", "Huridou"],
- ["Rachel Y", "Cheong"],
- ["Barbara", "Baldo"],
- ["Paul G\u00fcnther", "Scheunemann"],
- ["Marie-Louisa", "Schoebel"],
- ["Linda Holmquist", "Mengelbier"],
- ["Elisabet", "Englund"],
- ["Catriona", "McLean"],
- ["Carsten", "Saft"],
- ["Deniz", "Kirik"],
- ["Maria", "Bj\u00f6rkqvist"],
- ["Glenda", "Halliday"],
- ["Elisabeth", "Petrasch-Parwez"],
- ["Huu Phuc", "Nguyen"],
- ["Jonasz Jeremiasz", "Weber"],
- ["\u00c5sa", "Peters\u00e9n"]
- ],
- "publisher": "Brain pathology (Zurich, Switzerland)",
- "issn": "1750-3639",
- "date": "2026-02-24",
- "abstract": "The pathogenic mechanisms leading to neurodegeneration in Huntington disease (HD) are not fully understood but involve accumulation of toxic mRNA and protein products in the brain. Recent studies described an unconventional autophagic pathway involving DNA and RNA degradation through DNautophagy and RNautophagy that is regulated by the lysosomal protein SID1 transmembrane family member 2 (SIDT2). Interestingly, SIDT2 has been shown to bind to the expanded CAG repeat in the mutant huntingtin (mHTT) transcript and lower mHTT in vitro. The aim of the present study was to determine whether SIDT2 levels are altered in HD and whether manipulation of SIDT2-mediated RNautophagy can alter HD pathology. We demonstrate a significant reduction of SIDT2 protein levels in the striatum and in the lateral hypothalamic area in postmortem HD brains compared to control cases without effects on SIDT2 mRNA levels. In frontal cortical postmortem HD tissue, we show a CAG-repeat-length-dependent increase in the frequency of SIDT2-immunoreactive intranuclear inclusions. In postmortem tissue of an HD case with Vonsattel grade 0, we demonstrate SIDT2- and mHTT-immunoreactive inclusions not only in the frontal cortex, but also in the striatum and the lateral hypothalamic area. In the R6/2 mouse model of HD, we show that SIDT2 inclusions form at later stages than mHTT inclusions. Overexpression of SIDT2 using adeno-associated viral vectors injected into the hypothalamus of R6/2 mice led to a reduction of mHTT inclusions in the lateral hypothalamic area. Similarly, in a neuronal cell model, overexpression of SIDT2 reduced soluble and insoluble mHTT exon 1 protein levels. Taken together, our results reveal novel pathology in clinical HD cases and in experimental models, characterized by the accumulation of SIDT2-immunoreactive inclusions, while demonstrating the efficacy of overexpressing SIDT2 for lowering detrimental mHTT species. Targeting SIDT2-mediated RNautophagy may offer a potential strategy to ameliorate the molecular pathology in HD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41736445"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/41736445",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:41736445']' timed out after 3 seconds"
},
{
"id": "pmid:41697960",
@@ -108798,40 +112159,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39825149"
},
-{
- "id": "pmid:39824182",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39824182",
- "title": "Long somatic DNA-repeat expansion drives neurodegeneration in Huntington's disease.",
- "type": "article-journal",
- "doi": "10.1016/j.cell.2024.11.038",
- "authors": [
- ["Robert E", "Handsaker"],
- ["Seva", "Kashin"],
- ["Nora M", "Reed"],
- ["Steven", "Tan"],
- ["Won-Seok", "Lee"],
- ["Tara M", "McDonald"],
- ["Kiely", "Morris"],
- ["Nolan", "Kamitaki"],
- ["Christopher D", "Mullally"],
- ["Neda R", "Morakabati"],
- ["Melissa", "Goldman"],
- ["Gabriel", "Lind"],
- ["Rhea", "Kohli"],
- ["Elisabeth", "Lawton"],
- ["Marina", "Hogan"],
- ["Kiku", "Ichihara"],
- ["Sabina", "Berretta"],
- ["Steven A", "McCarroll"]
- ],
- "publisher": "Cell",
- "issn": "1097-4172",
- "date": "2025-01-16",
- "abstract": "In Huntington's disease (HD), striatal projection neurons (SPNs) degenerate during midlife; the core biological question involves how the disease-causing DNA repeat (CAG)",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39824182"
-},
{
"id": "pmid:39812810",
"manubot_success": true,
@@ -111178,22 +114505,9 @@
},
{
"id": "pmid:37315450",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37315450",
- "title": "Plasma NfL as a prognostic biomarker for enriching HD-ISS stage 1 categorisation: a cross-sectional study.",
- "type": "article-journal",
- "doi": "10.1016/j.ebiom.2023.104646",
- "authors": [
- ["Georgia M", "Parkin"],
- ["Elizabeth A", "Thomas"],
- ["Jody", "Corey-Bloom"]
- ],
- "publisher": "EBioMedicine",
- "issn": "2352-3964",
- "date": "2023-06-12",
- "abstract": "The recently proposed Huntington's Disease Integrated Staging System (HD-ISS) categorises individuals with the Huntintin genetic mutation into disease progression cohorts based on quantitative neuroimaging, cognitive, and functional markers for research purposes. Unfortunately, many research studies do not collect quantitative neuroimaging data, and so the authors of the HD-ISS have subsequently provided approximated cohort thresholds based on disease and clinical data alone. However, these are rough proxies that aim to maximise stage separation, and should not be considered as 1:1 substitutes for the HD-ISS. Notably, no wet biomarker met the stringent criteria required to be considered a landmark for HD-ISS categorisation. We have previously shown that levels of plasma neurofilament light (NfL), a neuronal marker associated with axonal injury, are associated with predicted years to clinical motor diagnosis (CMD). Our objective in the current study was to determine whether HD-ISS categorisation, particularly for stages prior to CMD, could be improved with consideration of plasma NfL levels.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37315450"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/37315450",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:37315450']' timed out after 3 seconds"
},
{
"id": "pmid:37306313",
@@ -111327,40 +114641,9 @@
},
{
"id": "pmid:37177784",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37177784",
- "title": "Di-valent siRNA-mediated silencing of MSH3 blocks somatic repeat expansion in mouse models of Huntington's disease.",
- "type": "article-journal",
- "doi": "10.1016/j.ymthe.2023.05.006",
- "authors": [
- ["Daniel", "O'Reilly"],
- ["Jillian", "Belgrad"],
- ["Chantal", "Ferguson"],
- ["Ashley", "Summers"],
- ["Ellen", "Sapp"],
- ["Cassandra", "McHugh"],
- ["Ella", "Mathews"],
- ["Adel", "Boudi"],
- ["Julianna", "Buchwald"],
- ["Socheata", "Ly"],
- ["Dimas", "Moreno"],
- ["Raymond", "Furgal"],
- ["Eric", "Luu"],
- ["Zachary", "Kennedy"],
- ["Vignesh", "Hariharan"],
- ["Kathryn", "Monopoli"],
- ["X William", "Yang"],
- ["Jeffery", "Carroll"],
- ["Marian", "DiFiglia"],
- ["Neil", "Aronin"],
- ["Anastasia", "Khvorova"]
- ],
- "publisher": "Molecular therapy : the journal of the American Society of Gene Therapy",
- "issn": "1525-0024",
- "date": "2023-05-12",
- "abstract": "Huntington's disease (HD) is a severe neurodegenerative disorder caused by the expansion of the CAG trinucleotide repeat tract in the huntingtin gene. Inheritance of expanded CAG repeats is needed for HD manifestation, but further somatic expansion of the repeat tract in non-dividing cells, particularly striatal neurons, hastens disease onset. Called somatic repeat expansion, this process is mediated by the mismatch repair (MMR) pathway. Among MMR components identified as modifiers of HD onset, MutS homolog 3 (MSH3) has emerged as a potentially safe and effective target for therapeutic intervention. Here, we identify a fully chemically modified short interfering RNA (siRNA) that robustly silences Msh3 in\u00a0vitro and in\u00a0vivo. When synthesized in a di-valent scaffold, siRNA-mediated silencing of Msh3 effectively blocked CAG-repeat expansion in the striatum of two HD mouse models without affecting tumor-associated microsatellite instability or mRNA expression of other MMR genes. Our findings establish a promising treatment approach for patients with HD and other repeat expansion diseases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37177784"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/37177784",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:37177784']' timed out after 3 seconds"
},
{
"id": "pmid:37162872",
@@ -111487,37 +114770,9 @@
},
{
"id": "pmid:36958627",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36958627",
- "title": "Proteomic Analysis of Huntington's Disease Medium Spiny Neurons Identifies Alterations in Lipid Droplets.",
- "type": "article-journal",
- "doi": "10.1016/j.mcpro.2023.100534",
- "authors": [
- ["Kizito-Tshitoko", "Tshilenge"],
- ["Carlos Galicia", "Aguirre"],
- ["Joanna", "Bons"],
- ["Akos A", "Gerencser"],
- ["Nathan", "Basisty"],
- ["Sicheng", "Song"],
- ["Jacob", "Rose"],
- ["Alejandro", "Lopez-Ramirez"],
- ["Swati", "Naphade"],
- ["Ashley", "Loureiro"],
- ["Elena", "Battistoni"],
- ["Mateus", "Milani"],
- ["Cameron", "Wehrfritz"],
- ["Anja", "Holtz"],
- ["Claudio", "Hetz"],
- ["Sean D", "Mooney"],
- ["Birgit", "Schilling"],
- ["Lisa M", "Ellerby"]
- ],
- "publisher": "Molecular & cellular proteomics : MCP",
- "issn": "1535-9484",
- "date": "2023-03-22",
- "abstract": "Huntington's disease (HD) is a neurodegenerative disease caused by a CAG repeat expansion in the Huntingtin (HTT) gene. The resulting polyglutamine (polyQ) tract alters the function of the HTT protein. Although HTT is expressed in different tissues, the medium-spiny projection neurons (MSNs) in the striatum are particularly vulnerable in HD. Thus, we sought to define the proteome of human HD patient-derived MSNs. We differentiated HD72-induced pluripotent stem cells and isogenic controls into MSNs and carried out quantitative proteomic analysis. Using data-dependent acquisitions with FAIMS for label-free quantification on the Orbitrap Lumos mass spectrometer, we identified 6323 proteins with at least two unique peptides. Of these, 901 proteins were altered significantly more in the HD72-MSNs than in isogenic controls. Functional enrichment analysis of upregulated proteins demonstrated extracellular matrix and DNA signaling (DNA replication pathway, double-strand break repair, G1/S transition) with the highest significance. Conversely, processes associated with the downregulated proteins included neurogenesis-axogenesis, the brain-derived neurotrophic factor-signaling pathway, Ephrin-A:EphA pathway, regulation of synaptic plasticity, triglyceride homeostasis cholesterol, plasmid lipoprotein particle immune response, interferon-\u03b3 signaling, immune system major histocompatibility complex, lipid metabolism, and cellular response to stimulus. Moreover, proteins involved in the formation and maintenance of axons, dendrites, and synapses (e.g., septin protein members) were dysregulated in HD72-MSNs. Importantly, lipid metabolism pathways were altered, and using quantitative image analysis, we found that lipid droplets accumulated in the HD72-MSN, suggesting a deficit in the turnover of lipids possibly through lipophagy. Our proteomics analysis of HD72-MSNs identified relevant pathways that are altered in MSNs and confirm current and new therapeutic targets for HD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36958627"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/36958627",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:36958627']' timed out after 3 seconds"
},
{
"id": "pmid:36902304",
@@ -111642,24 +114897,9 @@
},
{
"id": "pmid:36711022",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36711022",
- "title": "Full-length huntingtin is palmitoylated at multiple sites and post-translationally myristoylated following caspase-cleavage.",
- "type": "article-journal",
- "doi": "10.3389/fphys.2023.1086112",
- "authors": [
- ["Fanny L", "Lemari\u00e9"],
- ["Shaun S", "Sanders"],
- ["Yen", "Nguyen"],
- ["Dale D O", "Martin"],
- ["Michael R", "Hayden"]
- ],
- "publisher": "Frontiers in physiology",
- "issn": "1664-042X",
- "date": "2023-01-13",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36711022"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/36711022",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:36711022']' timed out after 3 seconds"
},
{
"id": "pmid:36691277",
@@ -111736,93 +114976,27 @@
},
{
"id": "pmid:36550260",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36550260",
- "title": "CRISPR-Cas9 mediated genome editing of Huntington's disease neurospheres.",
- "type": "article-journal",
- "doi": "10.1007/s11033-022-08175-6",
- "authors": [
- ["Ji Yun", "Han"],
- ["Jaewoo", "Seo"],
- ["Yoori", "Choi"],
- ["Wooseok", "Im"],
- ["Jae-Jun", "Ban"],
- ["Jung-Joon", "Sung"]
- ],
- "publisher": "Molecular biology reports",
- "issn": "1573-4978",
- "date": "2022-12-23",
- "abstract": "Huntington's disease (HD) is a fatal genetic disease caused by polyglutamine aggregation encoded by an expanded CAG repeat in the huntingtin gene (HTT). In this study, we cultured neurospheres derived from R6/2 mice, a representative animal model of HD, as an in vitro model. GuideRNAs were designed to induce large deletion or frameshift indel mutation of CAG expansion. These gRNAs and Cas9 were delivered to the R6/2 neurospheres and disease-related phenotypes were observed.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36550260"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/36550260",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:36550260']' timed out after 3 seconds"
},
{
"id": "pmid:36458209",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36458209",
- "title": "Mutant huntingtin messenger RNA forms neuronal nuclear clusters in rodent and human brains.",
- "type": "article-journal",
- "doi": "10.1093/braincomms/fcac248",
- "authors": [
- ["Socheata", "Ly"],
- ["Marie-C\u00e9cile", "Didiot"],
- ["Chantal M", "Ferguson"],
- ["Andrew H", "Coles"],
- ["Rachael", "Miller"],
- ["Kathryn", "Chase"],
- ["Dimas", "Echeverria"],
- ["Feng", "Wang"],
- ["Ghazaleh", "Sadri-Vakili"],
- ["Neil", "Aronin"],
- ["Anastasia", "Khvorova"]
- ],
- "publisher": "Brain communications",
- "issn": "2632-1297",
- "date": "2022-10-13",
- "abstract": "Mutant messenger RNA (mRNA) and protein contribute to the clinical manifestation of many repeat-associated neurological disorders, with the presence of nuclear RNA clusters being a common pathological feature. Yet, investigations into Huntington's disease-caused by a CAG repeat expansion in exon 1 of the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36458209"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/36458209",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:36458209']' timed out after 3 seconds"
},
{
"id": "pmid:36427954",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36427954",
- "title": "The microbiota-gut-brain axis in Huntington's disease.",
- "type": "article-journal",
- "doi": "10.1016/bs.irn.2022.06.005",
- "authors": [
- ["Chloe J", "Love"],
- ["Bethany A", "Masson"],
- ["Carolina", "Gubert"],
- ["Anthony J", "Hannan"]
- ],
- "publisher": "International review of neurobiology",
- "issn": "2162-5514",
- "date": "2022-10-28",
- "abstract": "Huntington's disease (HD) is a fatal neurodegenerative disorder caused by an autosomal dominant trinucleotide (CAG) tandem repeat, resulting in complex motor, psychiatric and cognitive symptoms as well as gastrointestinal disturbances and other peripheral symptoms. There are currently no disease-modifying treatments, and the peripheral pathology of the disorder is not well understood. Emerging evidence suggests that the bi-directional communication pathways between the gut and the brain, including the microbiota-gut-brain axis, can affect motor, psychiatric and cognitive symptoms as well as weight loss and sexual dimorphism seen in HD. Furthermore, both HD and the microbiota-gut-brain axis can be influenced by environmental factors, opening potential new avenues to explore therapeutic options for this devastating disorder.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36427954"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/36427954",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:36427954']' timed out after 3 seconds"
},
{
"id": "pmid:36352624",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36352624",
- "title": "Complexities in Genetic Counseling and Testing of Huntington's Disease: A Perspective from India.",
- "type": "article-journal",
- "doi": "10.4103/0028-3886.359184",
- "authors": [
- ["Nikhil", "Ratna"],
- ["Swathi Lakshmi", "Pasupulati"],
- ["Ravi K", "Nadella"],
- ["Meera", "Purushottam"],
- ["Sanjeev", "Jain"]
- ],
- "publisher": "Neurology India",
- "issn": "1998-4022",
- "date": "2022-01-01",
- "abstract": "Huntington's Disease (HD) is an autosomal dominant, progressive neuropsychiatric illness caused by CAG repeat expansion. The high penetrance of the mutation and limited treatment options make it challenging for patients and caretakers. Proper counseling enables families to cope better and make informed life choices.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36352624"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/36352624",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:36352624']' timed out after 3 seconds"
},
{
"id": "pmid:36344508",
@@ -111850,66 +115024,21 @@
},
{
"id": "pmid:36335527",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36335527",
- "title": "More than a co-incidence? Comment on: Amyotrophic lateral sclerosis is over-represented in two Huntington's disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT gene expansion.",
- "type": "article-journal",
- "doi": "10.1007/s00401-022-02517-1",
- "authors": [
- ["Hannah S", "Bakels"],
- ["Stephanie", "Feleus"],
- ["Vera", "van Dis"],
- ["Susanne T", "de Bot"]
- ],
- "publisher": "Acta neuropathologica",
- "issn": "1432-0533",
- "date": "2022-11-06",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36335527"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/36335527",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:36335527']' timed out after 3 seconds"
},
{
"id": "pmid:36335491",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36335491",
- "title": "Full-Length Transcript Phasing with Third-Generation Sequencing.",
- "type": "article-journal",
- "doi": "10.1007/978-1-0716-2819-5_3",
- "authors": [
- ["Nenad", "Svrzikapa"],
- ["Ramakrishna", "Boyanapalli"]
- ],
- "publisher": "Methods in molecular biology (Clifton, N.J.)",
- "issn": "1940-6029",
- "date": "2023-01-01",
- "abstract": "Haplotyping individual full-length transcripts can be important in diagnosis and treatment of certain genetic diseases. One set of diseases, repeat expansions of simple tandem repeat sequences are the cause of over 40 neurological disorders. In many of these conditions, expanding a polymorphic repeat beyond a given threshold has been strongly associated with disease onset and severity. Given that most repeat expansions are inherited in an autosomal dominant pattern, repeat expansion disorders are typically characterized by a heterozygous expansion locus associated with a single haplotype. Precision genetic medicines can be used to selectively target expansion-containing sequences in a haplotype-specific manner.However, repeat expansion lengths often exceed the capacity of next-generation sequencing (NGS) reads. Therefore, the accurate length and haplotype determination of repeat expansions requires special considerations and requires the development of custom methods. Here we highlight a method for targeted haplotype phasing of the HTT gene, which can be adopted for use with other full-length transcripts and in other repeat expansion disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36335491"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/36335491",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:36335491']' timed out after 3 seconds"
},
{
"id": "pmid:36285345",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36285345",
- "title": "Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis.",
- "type": "article-journal",
- "doi": "10.1002/acn3.51673",
- "authors": [
- ["Arianna", "Manini"],
- ["Delia", "Gagliardi"],
- ["Megi", "Meneri"],
- ["Sara", "Antognozzi"],
- ["Roberto", "Del Bo"],
- ["Cesa", "Scaglione"],
- ["Giacomo Pietro", "Comi"],
- ["Stefania", "Corti"],
- ["Dario", "Ronchi"]
- ],
- "publisher": "Annals of clinical and translational neurology",
- "issn": "2328-9503",
- "date": "2022-10-25",
- "abstract": "HTT full-penetrance pathogenic repeat expansions, the genetic cause of Huntington's disease (HD), have been recently reported in a minority of frontotemporal dementia/amyotrophic lateral sclerosis (ALS) patients (0.13%). We analyzed HTT CAG repeats in an Italian cohort of ALS patients (n\u2009=\u2009467) by repeat-primed polymerase chain reaction. One patient harbored two expanded alleles in the HTT gene (42 and 37 CAG repeats). The absence of HD typical symptoms and the clinical picture consistent with ALS, corroborated by the diagnostic assessment, apparently excluded a misdiagnosis of HD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36285345"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/36285345",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:36285345']' timed out after 3 seconds"
},
{
"id": "pmid:36262216",
@@ -111994,27 +115123,9 @@
},
{
"id": "pmid:36130218",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36130218",
- "title": "Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.",
- "type": "article-journal",
- "doi": "10.1093/hmg/ddac224",
- "authors": [
- ["Ainara", "Ruiz de Sabando"],
- ["Edurne", "Urrutia Lafuente"],
- ["Arkaitz", "Galbete"],
- ["Marc", "Ciosi"],
- ["Ferm\u00edn", "Garc\u00eda Amigot"],
- ["Virginia", "Garc\u00eda Solaesa"],
- ["Darren G", "Monckton"],
- ["Maria A", "Ramos-Arroyo"]
- ],
- "publisher": "Human molecular genetics",
- "issn": "1460-2083",
- "date": "2023-03-06",
- "abstract": "We aimed to determine the genetic diversity and molecular characteristics of the Huntington disease (HD) gene (HTT) in Spain. We performed an extended haplotype and exon one deep sequencing analysis of the HTT gene in a nationwide cohort of population-based controls (n\u2009=\u2009520) and families with symptomatic individuals referred for HD genetic testing. This group included 331 HD cases and 140 carriers of intermediate alleles. Clinical and family history data were obtained when available. Spanish normal alleles are enriched in C haplotypes (40.1%), whereas A1 (39.8%) and A2 (31.6%) prevail among intermediate and expanded alleles, respectively. Alleles\u2009\u2265\u200950 CAG repeats are primarily associated with haplotypes A2 (38.9%) and C (32%), which are also present in 50% and 21.4%, respectively, of HD families with large intergenerational expansions. Non-canonical variants of exon one sequence are less frequent, but much more diverse, in alleles of \u226527 CAG repeats. The deletion of CAACAG, one of the six rare variants not observed among smaller normal alleles, is associated with haplotype C and appears to correlate with larger intergenerational expansions and early onset of symptoms. Spanish HD haplotypes are characterized by a high genetic diversity, potentially admixed with other non-Caucasian populations, with a higher representation of A2 and C haplotypes than most European populations. Differences in haplotype distributions across the CAG length range support differential germline expansion dynamics, with A2 and C showing the largest intergenerational expansions. This haplotype-dependent germline instability may be driven by specific cis-elements, such as the CAACAG deletion.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36130218"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/36130218",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:36130218']' timed out after 3 seconds"
},
{
"id": "pmid:36099320",
@@ -112036,44 +115147,9 @@
},
{
"id": "pmid:36098485",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36098485",
- "title": "Developing HDAC4-Selective Protein Degraders To Investigate the Role of HDAC4 in Huntington's Disease Pathology.",
- "type": "article-journal",
- "doi": "10.1021/acs.jmedchem.2c01149",
- "authors": [
- ["Natsuko", "Macabuag"],
- ["William", "Esmieu"],
- ["Perla", "Breccia"],
- ["Rebecca", "Jarvis"],
- ["Wesley", "Blackaby"],
- ["Ovadia", "Lazari"],
- ["Liudvikas", "Urbonas"],
- ["Maria", "Eznarriaga"],
- ["Rachel", "Williams"],
- ["Annelieke", "Strijbosch"],
- ["Rhea", "Van de Bospoort"],
- ["Kim", "Matthews"],
- ["Cole", "Clissold"],
- ["Tammy", "Ladduwahetty"],
- ["Huw", "Vater"],
- ["Patrick", "Heaphy"],
- ["Douglas G", "Stafford"],
- ["Hong-Jun", "Wang"],
- ["John E", "Mangette"],
- ["George", "McAllister"],
- ["Vahri", "Beaumont"],
- ["Thomas F", "Vogt"],
- ["Hilary A", "Wilkinson"],
- ["Elizabeth M", "Doherty"],
- ["Celia", "Dominguez"]
- ],
- "publisher": "Journal of medicinal chemistry",
- "issn": "1520-4804",
- "date": "2022-09-13",
- "abstract": "Huntington's disease (HD) is a lethal autosomal dominant neurodegenerative disorder resulting from a CAG repeat expansion in the huntingtin (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36098485"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/36098485",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:36098485']' timed out after 3 seconds"
},
{
"id": "pmid:36087538",
@@ -112121,22 +115197,9 @@
},
{
"id": "pmid:36066723",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36066723",
- "title": "Suppression of trinucleotide repeat expansion in spermatogenic cells in Huntington's disease.",
- "type": "article-journal",
- "doi": "10.1007/s10815-022-02594-x",
- "authors": [
- ["In K", "Cho"],
- ["Charles A", "Easley"],
- ["Anthony W S", "Chan"]
- ],
- "publisher": "Journal of assisted reproduction and genetics",
- "issn": "1573-7330",
- "date": "2022-09-06",
- "abstract": "Trinucleotide repeats (TNRs) are dispersed throughout the human genome. About 20 loci are related to human diseases, such as Huntington's disease (HD). A larger TNR instability is predominantly observed in the paternal germ cells in some TNR disorders. Suppressing the expansion during spermatogenesis can provide a unique opportunity to end the vicious cycle of genetic anticipation. Here, using an in vitro differentiation method to derive advanced spermatogenic cells, we investigated the efficacy of two therapeutic agents, araC (cytarabine) and aspirin, on stabilizing TNRs in spermatogenic cells. Two WT patient-derived induced pluripotent stem cell (iPSC) lines and two HD hiPSC lines, with 44 Q and 180 Q, were differentiated into spermatogonial stem cell-like cells (SSCLCs). Both HD cell lines showed CAG tract expansion in SSCLC. When treated with araC and aspirin, HD1 showed moderate but not statistically significant stabilization of TNR. In HD2, 10\u00a0nM of aspirin and araC showed significant stabilization of TNR. All cell lines showed increased DNA damage response (DDR) gene expression in SSCLCs while more genes were significantly induced in HD SSCLC. In HD1, araC and aspirin treatment showed general suppression of DNA damage response genes. In HD2, only FAN1, OGG1, and PCNA showed significant suppression. When the methylation profile of HD cells was analyzed, FAN1 and OGG1 showed significant hypermethylation after the aspirin and araC treatment in SSCLC compared to the control. This study underscores the utility of our in vitro spermatogenesis model to study and develop therapies for TNR disorders such as HD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36066723"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/36066723",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:36066723']' timed out after 3 seconds"
},
{
"id": "pmid:36064847",
@@ -112543,113 +115606,21 @@
},
{
"id": "pmid:35440014",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35440014",
- "title": "The distribution and density of Huntingtin inclusions across the Huntington disease neocortex: regional correlations with Huntingtin repeat expansion independent of pathologic grade.",
- "type": "article-journal",
- "doi": "10.1186/s40478-022-01364-1",
- "authors": [
- ["Richard A", "Hickman"],
- ["Phyllis L", "Faust"],
- ["Karen", "Marder"],
- ["Ai", "Yamamoto"],
- ["Jean-Paul", "Vonsattel"]
- ],
- "publisher": "Acta neuropathologica communications",
- "issn": "2051-5960",
- "date": "2022-04-19",
- "abstract": "Huntington disease is characterized by progressive neurodegeneration, especially of the striatum, and the presence of polyglutamine huntingtin (HTT) inclusions. Although HTT inclusions are most abundant in the neocortex, their neocortical distribution and density in relation to the extent of CAG repeat expansion in the HTT gene and striatal pathologic grade have yet to be formally established. We immunohistochemically studied 65 brains with a pathologic diagnosis of Huntington disease to investigate the cortical distributions and densities of HTT inclusions within the calcarine (BA17), precuneus (BA7), motor (BA4) and prefrontal (BA9) cortices; in 39 of these brains, a p62 immunostain was used for comparison. HTT inclusions predominate in the infragranular cortical layers (layers V-VI) and layer III, however, the densities of HTT inclusions across the human cerebral cortex are not uniform but are instead regionally contingent. The density of HTT and p62 inclusions (intranuclear and extranuclear) in layers V-VI increases caudally to rostrally (BA17\u2009<\u2009BA7\u2009<\u2009BA4\u2009<\u2009BA9) with the median burden of HTT inclusions being 38-fold greater in the prefrontal cortex (BA9) than in the calcarine cortex (BA17). Conversely, intranuclear HTT inclusions prevail in the calcarine cortex irrespective of HTT CAG length. Neocortical HTT inclusion density correlates with CAG repeat expansion, but not with the neuropathologic grade of striatal degeneration (Vonsattel grade) or with the duration of clinical disease since motor onset. Extrapolation of these findings suggest that HTT inclusions are at a regionally-contingent, CAG-dependent, density during the advanced stages of HD. The distribution and density of HTT inclusions in HD therefore does not provide a measure of pathologic disease stage but rather infers the degree of pathogenic HTT expansion.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35440014"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/35440014",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:35440014']' timed out after 3 seconds"
},
{
"id": "pmid:35395816",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35395816",
- "title": "Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.",
- "type": "article-journal",
- "doi": "10.1186/s40478-022-01349-0",
- "authors": [
- ["Lindsey N", "Campion"],
- ["Alan", "Mejia Maza"],
- ["Rachita", "Yadav"],
- ["Ellen B", "Penney"],
- ["Micaela G", "Murcar"],
- ["Kevin", "Correia"],
- ["Tammy", "Gillis"],
- ["Cara", "Fernandez-Cerado"],
- ["M Salvie", "Velasco-Andrada"],
- ["G Paul", "Legarda"],
- ["Niecy G", "Ganza-Bautista"],
- ["J Benedict B", "Lagarde"],
- ["Patrick J", "Acu\u00f1a"],
- ["Trisha", "Multhaupt-Buell"],
- ["Gabrielle", "Aldykiewicz"],
- ["Melanie L", "Supnet"],
- ["Jan K", "De Guzman"],
- ["Criscely", "Go"],
- ["Nutan", "Sharma"],
- ["Edwin L", "Munoz"],
- ["Mark C", "Ang"],
- ["Cid Czarina E", "Diesta"],
- ["D Cristopher", "Bragg"],
- ["Laurie J", "Ozelius"],
- ["Vanessa C", "Wheeler"]
- ],
- "publisher": "Acta neuropathologica communications",
- "issn": "2051-5960",
- "date": "2022-04-08",
- "abstract": "X-linked dystonia-parkinsonism (XDP) is a progressive adult-onset neurodegenerative disorder caused by insertion of a SINE-VNTR-Alu (SVA) retrotransposon in the TAF1 gene. The SVA retrotransposon contains a CCCTCT hexameric repeat tract of variable length, whose length is inversely correlated with age at onset. This places XDP in a broader class of repeat expansion diseases, characterized by the instability of their causative repeat mutations. Here, we observe similar inverse correlations between CCCTCT repeat length with age at onset and age at death and no obvious correlation with disease duration. To gain insight into repeat instability in XDP we performed comprehensive quantitative analyses of somatic instability of the XDP CCCTCT repeat in blood and in seventeen brain regions from affected males. Our findings reveal repeat length-dependent and expansion-based instability of the XDP CCCTCT repeat, with greater levels of expansion in brain than in blood. The brain exhibits regional-specific patterns of instability that are broadly similar across individuals, with cerebellum exhibiting low instability and cortical regions exhibiting relatively high instability. The spectrum of somatic instability in the brain includes a high proportion of moderate repeat length changes of up to 5 repeats, as well as expansions of\u2009~\u200920-\u2009>\u2009100 repeats and contractions of\u2009~\u200920-40 repeats at lower frequencies. Comparison with HTT CAG repeat instability in postmortem Huntington's disease brains reveals similar brain region-specific profiles, indicating common trans-acting factors that contribute to the instability of both repeats. Analyses in XDP brains of expansion of a different SVA-associated CCCTCT located in the LIPG gene, and not known to be disease-associated, reveals repeat length-dependent expansion at overall lower levels relative to the XDP CCCTCT repeat, suggesting that expansion propensity may be modified by local chromatin structure. Together, the data support a role for repeat length-dependent somatic expansion in the process(es) driving the onset of XDP and prompt further investigation into repeat dynamics and the relationship to disease.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35395816"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/35395816",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:35395816']' timed out after 3 seconds"
},
{
"id": "pmid:35379994",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35379994",
- "title": "Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.",
- "type": "article-journal",
- "doi": "10.1038/s41593-022-01033-5",
- "authors": [
- ["Branduff", "McAllister"],
- ["Jasmine", "Donaldson"],
- ["Caroline S", "Binda"],
- ["Sophie", "Powell"],
- ["Uroosa", "Chughtai"],
- ["Gareth", "Edwards"],
- ["Joseph", "Stone"],
- ["Sergey", "Lobanov"],
- ["Linda", "Elliston"],
- ["Laura-Nadine", "Schuhmacher"],
- ["Elliott", "Rees"],
- ["Georgina", "Menzies"],
- ["Marc", "Ciosi"],
- ["Alastair", "Maxwell"],
- ["Michael J", "Chao"],
- ["Eun Pyo", "Hong"],
- ["Diane", "Lucente"],
- ["Vanessa", "Wheeler"],
- ["Jong-Min", "Lee"],
- ["Marcy E", "MacDonald"],
- ["Jeffrey D", "Long"],
- ["Elizabeth H", "Aylward"],
- ["G Bernhard", "Landwehrmeyer"],
- ["Anne E", "Rosser"],
- ["Jane S", "Paulsen"],
- ["Nigel M", "Williams"],
- ["James F", "Gusella"],
- ["Darren G", "Monckton"],
- ["Nicholas D", "Allen"],
- ["Peter", "Holmans"],
- ["Lesley", "Jones"],
- ["Thomas H", "Massey"]
- ],
- "publisher": "Nature neuroscience",
- "issn": "1546-1726",
- "date": "2022-04-04",
- "abstract": "The age at onset of motor symptoms in Huntington's disease (HD) is driven by HTT CAG repeat length but modified by other genes. In this study, we used exome sequencing of 683 patients with HD with extremes of onset or phenotype relative to CAG length to identify rare variants associated with clinical effect. We discovered damaging coding variants in candidate modifier genes identified in previous genome-wide association studies associated with altered HD onset or severity. Variants in FAN1 clustered in its DNA-binding and nuclease domains and were associated predominantly with earlier-onset HD. Nuclease activities of purified variants in vitro correlated with residual age at motor onset of HD. Mutating endogenous FAN1 to a nuclease-inactive form in an induced pluripotent stem cell model of HD led to rates of CAG expansion similar to those observed with complete FAN1 knockout. Together, these data implicate FAN1 nuclease activity in slowing somatic repeat expansion and hence onset of HD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35379994"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/35379994",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:35379994']' timed out after 3 seconds"
},
{
"id": "pmid:35370826",
@@ -112683,28 +115654,9 @@
},
{
"id": "pmid:35357736",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35357736",
- "title": "Clinical and genetic characteristics of late-onset Huntington's disease in a large European cohort.",
- "type": "article-journal",
- "doi": "10.1111/ene.15340",
- "authors": [
- ["Martina", "Petracca"],
- ["Sonia", "Di Tella"],
- ["Marcella", "Solito"],
- ["Paola", "Zinzi"],
- ["Maria Rita", "Lo Monaco"],
- ["Giulia", "Di Lazzaro"],
- ["Paolo", "Calabresi"],
- ["Maria Caterina", "Silveri"],
- ["Anna Rita", "Bentivoglio"]
- ],
- "publisher": "European journal of neurology",
- "issn": "1468-1331",
- "date": "2022-04-17",
- "abstract": "Huntington's disease (HD) is an autosomal dominant condition caused by CAG-triplet repeat expansions. CAG-triplet repeat expansion is inversely correlated with age of onset in HD and largely determines the clinical features. The aim of this study was to examine the phenotypic and genotypic correlates of late-onset HD (LoHD) and to determine whether LoHD is a more benign expression of HD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35357736"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/35357736",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:35357736']' timed out after 3 seconds"
},
{
"id": "pmid:35275350",
@@ -112786,22 +115738,9 @@
},
{
"id": "pmid:35146388",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35146388",
- "title": "IKK\u03b2 signaling mediates metabolic changes in the hypothalamus of a Huntington disease mouse model.",
- "type": "article-journal",
- "doi": "10.1016/j.isci.2022.103771",
- "authors": [
- ["Rana", "Soylu-Kucharz"],
- ["Ali", "Khoshnan"],
- ["\u00c5sa", "Peters\u00e9n"]
- ],
- "publisher": "iScience",
- "issn": "2589-0042",
- "date": "2022-01-19",
- "abstract": "Huntington disease (HD) is a neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35146388"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/35146388",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:35146388']' timed out after 3 seconds"
},
{
"id": "pmid:35143966",
@@ -112833,40 +115772,9 @@
},
{
"id": "pmid:35114102",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35114102",
- "title": "Uninterrupted CAG repeat drives striatum-selective transcriptionopathy and nuclear pathogenesis in human Huntingtin BAC mice.",
- "type": "article-journal",
- "doi": "10.1016/j.neuron.2022.01.006",
- "authors": [
- ["Xiaofeng", "Gu"],
- ["Jeffrey", "Richman"],
- ["Peter", "Langfelder"],
- ["Nan", "Wang"],
- ["Shasha", "Zhang"],
- ["Monica", "Ba\u00f1ez-Coronel"],
- ["Huei-Bin", "Wang"],
- ["Lucia", "Yang"],
- ["Lalini", "Ramanathan"],
- ["Linna", "Deng"],
- ["Chang Sin", "Park"],
- ["Christopher R", "Choi"],
- ["Jeffrey P", "Cantle"],
- ["Fuying", "Gao"],
- ["Michelle", "Gray"],
- ["Giovanni", "Coppola"],
- ["Gillian P", "Bates"],
- ["Laura P W", "Ranum"],
- ["Steve", "Horvath"],
- ["Christopher S", "Colwell"],
- ["X William", "Yang"]
- ],
- "publisher": "Neuron",
- "issn": "1097-4199",
- "date": "2022-02-02",
- "abstract": "In Huntington's disease (HD), the uninterrupted CAG repeat length, but not the polyglutamine length, predicts disease onset. However, the underlying pathobiology remains unclear. Here, we developed bacterial artificial chromosome (BAC) transgenic mice expressing human mutant huntingtin (mHTT) with uninterrupted, and somatically unstable, CAG repeats that exhibit progressive disease-related phenotypes. Unlike prior mHTT transgenic models with stable, CAA-interrupted, polyglutamine-encoding repeats, BAC-CAG mice show robust striatum-selective nuclear inclusions and transcriptional dysregulation resembling those in murine huntingtin knockin models and HD patients. Importantly, the striatal transcriptionopathy in HD models is significantly correlated with their uninterrupted CAG repeat length but not polyglutamine length. Finally, among the pathogenic entities originating from mHTT genomic transgenes and only present or enriched in the uninterrupted CAG repeat model, somatic CAG repeat instability and nuclear mHTT aggregation are best correlated with early-onset striatum-selective molecular pathogenesis and locomotor and sleep deficits, while repeat RNA-associated pathologies and repeat-associated non-AUG (RAN) translation may play less selective or late pathogenic roles, respectively.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35114102"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/35114102",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:35114102']' timed out after 3 seconds"
},
{
"id": "pmid:35099257",
@@ -112890,26 +115798,9 @@
},
{
"id": "pmid:35095420",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35095420",
- "title": "Analysis of LINE1 Retrotransposons in Huntington's Disease.",
- "type": "article-journal",
- "doi": "10.3389/fncel.2021.743797",
- "authors": [
- ["Lavinia", "Floreani"],
- ["Federico", "Ansaloni"],
- ["Damiano", "Mangoni"],
- ["Elena", "Agostoni"],
- ["Remo", "Sanges"],
- ["Francesca", "Persichetti"],
- ["Stefano", "Gustincich"]
- ],
- "publisher": "Frontiers in cellular neuroscience",
- "issn": "1662-5102",
- "date": "2022-01-14",
- "abstract": "Transposable elements (TEs) are mobile genetic elements that made up about half the human genome. Among them, the autonomous non-LTR retrotransposon long interspersed nuclear element-1 (L1) is the only currently active TE in mammals and covers about 17% of the mammalian genome. L1s exert their function as structural elements in the genome, as transcribed RNAs to influence chromatin structure and as retrotransposed elements to shape genomic variation in somatic cells. L1s activity has been shown altered in several diseases of the nervous system. Huntington disease (HD) is a dominantly inherited neurodegenerative disorder caused by an expansion of a CAG repeat in the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35095420"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/35095420",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:35095420']' timed out after 3 seconds"
},
{
"id": "pmid:35058188",
@@ -112995,226 +115886,57 @@
},
{
"id": "pmid:35036881",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35036881",
- "title": "Transposable element activation promotes neurodegeneration in a",
- "type": "article-journal",
- "doi": "10.1016/j.isci.2021.103702",
- "authors": [
- ["Assunta Maria", "Casale"],
- ["Francesco", "Liguori"],
- ["Federico", "Ansaloni"],
- ["Ugo", "Cappucci"],
- ["Sara", "Finaurini"],
- ["Giovanni", "Spirito"],
- ["Francesca", "Persichetti"],
- ["Remo", "Sanges"],
- ["Stefano", "Gustincich"],
- ["Lucia", "Piacentini"]
- ],
- "publisher": "iScience",
- "issn": "2589-0042",
- "date": "2021-12-28",
- "abstract": "Huntington's disease (HD) is an autosomal dominant disorder with progressive motor dysfunction and cognitive decline. The disease is caused by a CAG repeat expansion in the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35036881"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/35036881",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:35036881']' timed out after 3 seconds"
},
{
"id": "pmid:38835439",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38835439",
- "title": "Huntington disease update: new insights into the role of repeat instability in disease pathogenesis.",
- "type": "article-journal",
- "doi": "10.1515/medgen-2021-2101",
- "authors": [
- ["Larissa", "Arning"],
- ["Huu Phuc", "Nguyen"]
- ],
- "publisher": "Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V",
- "issn": "1863-5490",
- "date": "2022-01-12",
- "abstract": "The causative mutation for Huntington disease (HD), an expanded trinucleotide repeat sequence in the first exon of the huntingtin gene (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38835439"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/38835439",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:38835439']' timed out after 3 seconds"
},
{
"id": "pmid:34948242",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34948242",
- "title": "Identification of Novel Therapeutic Targets for Polyglutamine Diseases That Target Mitochondrial Fragmentation.",
- "type": "article-journal",
- "doi": "10.3390/ijms222413447",
- "authors": [
- ["Annika", "Traa"],
- ["Emily", "Machiela"],
- ["Paige D", "Rudich"],
- ["Sonja K", "Soo"],
- ["Megan M", "Senchuk"],
- ["Jeremy M", "Van Raamsdonk"]
- ],
- "publisher": "International journal of molecular sciences",
- "issn": "1422-0067",
- "date": "2021-12-14",
- "abstract": "Huntington's disease (HD) is one of at least nine polyglutamine diseases caused by a trinucleotide CAG repeat expansion, all of which lead to age-onset neurodegeneration. Mitochondrial dynamics and function are disrupted in HD and other polyglutamine diseases. While multiple studies have found beneficial effects from decreasing mitochondrial fragmentation in HD models by disrupting the mitochondrial fission protein DRP1, disrupting DRP1 can also have detrimental consequences in wild-type animals and HD models. In this work, we examine the effect of decreasing mitochondrial fragmentation in a neuronal",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34948242"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34948242",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34948242']' timed out after 3 seconds"
},
{
"id": "pmid:34942093",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34942093",
- "title": "Longer CAG repeat length is associated with shorter survival after disease onset in Huntington disease.",
- "type": "article-journal",
- "doi": "10.1016/j.ajhg.2021.12.002",
- "authors": [
- ["Douglas R", "Langbehn"]
- ],
- "publisher": "American journal of human genetics",
- "issn": "1537-6605",
- "date": "2021-12-22",
- "abstract": "It is well known that the length of the CAG trinucleotide expansion of the huntingtin gene is associated with many aspects of Huntington disease progression. These include age of clinical onset and rate of initial progression of disease severity. The relationship between CAG length and survival in Huntington disease is less studied. To address this, we obtained the complete Registry HD database from the European Huntington Disease Network and reanalyzed the time from reported age of disease onset until death. We conducted semiparametric proportional hazards modeling of 8,422 participants who had experienced onset of clinical Huntington disease, either retrospectively or prospectively. Of these, 826 had a recorded age of death. To avoid biased model estimates, retrospective onset ages were represented by left truncation at study entry. After controlling for onset age, which tends to be younger in those with longer CAG repeat lengths, we found that CAG length had a substantial and highly significant influence upon survival time after disease onset. For a fixed age of onset, longer CAG expansions were predictive of shorter survival. This is consistent with other known relationships between CAG length and disease severity. We also show that older onset age predicts shorter lifespan after controlling for CAG length and that the influence of CAG on survival length is substantially greater in women. We demonstrate that apparent contradictions between these and previous analyses of the same data are primarily due to the question of whether to control for clinical onset age in the analysis of time until death.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34942093"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34942093",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34942093']' timed out after 3 seconds"
},
{
"id": "pmid:34884469",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34884469",
- "title": "C57BL/6 Background Attenuates mHTT Toxicity in the Striatum of YAC128 Mice.",
- "type": "article-journal",
- "doi": "10.3390/ijms222312664",
- "authors": [
- ["Michaela K", "Back"],
- ["Johanna", "Kurzawa"],
- ["Sonia", "Ruggieri"],
- ["Jakob", "von Engelhardt"]
- ],
- "publisher": "International journal of molecular sciences",
- "issn": "1422-0067",
- "date": "2021-11-23",
- "abstract": "Mouse models are frequently used to study Huntington's disease (HD). The onset and severity of neuronal and behavioral pathologies vary greatly between HD mouse models, which results from different huntingtin expression levels and different CAG repeat length. HD pathology appears to depend also on the strain background of mouse models. Thus, behavioral deficits of HD mice are more severe in the FVB than in the C57BL/6 background. Alterations in medium spiny neuron (MSN) morphology and function have been well documented in young YAC128 mice in the FVB background. Here, we tested the relevance of strain background for mutant huntingtin (mHTT) toxicity on the cellular level by investigating HD pathologies in YAC128 mice in the C57BL/6 background (YAC128/BL6). Morphology, spine density, synapse function and membrane properties were not or only subtly altered in MSNs of 12-month-old YAC128/BL6 mice. Despite the mild cellular phenotype, YAC128/BL6 mice showed deficits in motor performance. More pronounced alterations in MSN function were found in the HdhQ150 mouse model in the C57BL/6 background (HdhQ150/BL6). Consistent with the differences in HD pathology, the number of inclusion bodies was considerably lower in YAC128/BL6 mice than HdhQ150/BL6 mice. This study highlights the relevance of strain background for mHTT toxicity in HD mouse models.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34884469"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34884469",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34884469']' timed out after 3 seconds"
},
{
"id": "pmid:34880419",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34880419",
- "title": "Huntingtin structure is orchestrated by HAP40 and shows a polyglutamine expansion-specific interaction with exon 1.",
- "type": "article-journal",
- "doi": "10.1038/s42003-021-02895-4",
- "authors": [
- ["Rachel J", "Harding"],
- ["Justin C", "Deme"],
- ["Johannes F", "Hevler"],
- ["Sem", "Tamara"],
- ["Alexander", "Lemak"],
- ["Jeffrey P", "Cantle"],
- ["Magdalena M", "Szewczyk"],
- ["Nola", "Begeja"],
- ["Siobhan", "Goss"],
- ["Xiaobing", "Zuo"],
- ["Peter", "Loppnau"],
- ["Alma", "Seitova"],
- ["Ashley", "Hutchinson"],
- ["Lixin", "Fan"],
- ["Ray", "Truant"],
- ["Matthieu", "Schapira"],
- ["Jeffrey B", "Carroll"],
- ["Albert J R", "Heck"],
- ["Susan M", "Lea"],
- ["Cheryl H", "Arrowsmith"]
- ],
- "publisher": "Communications biology",
- "issn": "2399-3642",
- "date": "2021-12-08",
- "abstract": "Huntington's disease results from expansion of a glutamine-coding CAG tract in the huntingtin (HTT) gene, producing an aberrantly functioning form of HTT. Both wildtype and disease-state HTT form a hetero-dimer with HAP40 of unknown functional relevance. We demonstrate in vivo and in cell models that HTT and HAP40 cellular abundance are coupled. Integrating data from a 2.6\u2009\u00c5 cryo-electron microscopy structure, cross-linking mass spectrometry, small-angle X-ray scattering, and modeling, we provide a near-atomic-level view of HTT, its molecular interaction surfaces and compacted domain architecture, orchestrated by HAP40. Native mass\u00a0spectrometry reveals a remarkably stable hetero-dimer, potentially explaining the cellular inter-dependence of HTT and HAP40. The exon 1 region of HTT is dynamic but shows greater conformational variety in the polyglutamine expanded mutant than wildtype exon 1. Our data provide a foundation for future functional and drug discovery studies targeting Huntington's disease and illuminate the structural consequences of HTT polyglutamine expansion.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34880419"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34880419",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34880419']' timed out after 3 seconds"
},
{
"id": "pmid:34851867",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34851867",
- "title": "Intellectual Curiosity and Action Initiation are Subtypes of Apathy Affected in Huntington Disease Gene Expansion Carriers.",
- "type": "article-journal",
- "doi": "10.1097/wnn.0000000000000286",
- "authors": [
- ["Rebecca K", "Hendel"],
- ["Marie N N", "Hellem"],
- ["Lena E", "Hjermind"],
- ["J\u00f8rgen E", "Nielsen"],
- ["Asmus", "Vogel"]
- ],
- "publisher": "Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology",
- "issn": "1543-3641",
- "date": "2021-12-02",
- "abstract": "Apathy is a prevalent behavioral syndrome of Huntington disease (HD) that can result in severe loss of function for the individual with HD and substantial caregiver distress. Research-based evidence of apathy is characterized by methodological differences, and there is a deficiency in the evidence concerning the subtypes of apathy.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34851867"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34851867",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34851867']' timed out after 3 seconds"
},
{
"id": "pmid:34829752",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34829752",
- "title": "Bone Marrow Microenvironment in Light-Chain Amyloidosis: In Vitro Expansion and Characterization of Mesenchymal Stromal Cells.",
- "type": "article-journal",
- "doi": "10.3390/biomedicines9111523",
- "authors": [
- ["Chiara", "Valsecchi"],
- ["Stefania", "Croce"],
- ["Alice", "Maltese"],
- ["Lorenza", "Montagna"],
- ["Elisa", "Lenta"],
- ["Alice", "Nevone"],
- ["Maria", "Girelli"],
- ["Paolo", "Milani"],
- ["Tiziana", "Bosoni"],
- ["Margherita", "Massa"],
- ["Carlotta", "Abb\u00e0"],
- ["Rita", "Campanelli"],
- ["Jessica", "Ripepi"],
- ["Annalisa", "De Silvestri"],
- ["Adriana", "Carolei"],
- ["Giovanni", "Palladini"],
- ["Marco", "Zecca"],
- ["Mario", "Nuvolone"],
- ["Maria Antonietta", "Avanzini"]
- ],
- "publisher": "Biomedicines",
- "issn": "2227-9059",
- "date": "2021-10-22",
- "abstract": "Immunoglobulin light-chain amyloidosis (AL) is caused by misfolded light chains produced by a small B cell clone. Mesenchymal stromal cells (MSCs) have been reported to affect plasma cell behavior. We aimed to characterize bone marrow (BM)-MSCs from AL patients, considering functional aspects, such as proliferation, differentiation, and immunomodulatory capacities. MSCs were in vitro expanded from the BM of 57 AL patients and 14 healthy donors (HDs). MSC surface markers were analyzed by flow cytometry, osteogenic and adipogenic differentiation capacities were in vitro evaluated, and co-culture experiments were performed in order to investigate MSC immunomodulatory properties towards the ALMC-2 cell line and HD peripheral blood mononuclear cells (PBMCs). AL-MSCs were comparable to HD-MSCs for morphology, immune-phenotype, and differentiation capacities. AL-MSCs showed a reduced proliferation rate, entering senescence at earlier passages than HD-MSCs. The AL-MSC modulatory effect on the plasma-cell line or circulating plasma cells was comparable to that of HD-MSCs. To our knowledge, this is the first study providing a comprehensive characterization of AL-MSCs. It remains to be defined if the observed abnormalities are the consequence of or are involved in the disease pathogenesis. BM microenvironment components in AL may represent the targets for the prevention/treatment of the disease in personalized therapies.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34829752"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34829752",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34829752']' timed out after 3 seconds"
},
{
"id": "pmid:34806402",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34806402",
- "title": "Efficient and Precise Processing of the Optimized Primary Artificial MicroRNA in a Huntingtin-Lowering Adeno-Associated Viral Gene Therapy",
- "type": "article-journal",
- "doi": "10.1089/hum.2021.221",
- "authors": [
- ["Wei", "Wang"],
- ["Pengcheng", "Zhou"],
- ["Xin", "Wang"],
- ["Fen", "Chen"],
- ["Emily", "Christensen"],
- ["Jeffrey", "Thompson"],
- ["Xiaoqin", "Ren"],
- ["Adrian", "Kells"],
- ["Lisa", "Stanek"],
- ["Todd", "Carter"],
- ["Jay", "Hou"],
- ["Dinah W Y", "Sah"]
- ],
- "publisher": "Human gene therapy",
- "issn": "1557-7422",
- "date": "2022-01-10",
- "abstract": "Huntington's disease is a fatal neurodegenerative disorder caused by an inherited mutation in the huntingtin (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34806402"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34806402",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34806402']' timed out after 3 seconds"
},
{
"id": "pmid:34800149",
@@ -113271,22 +115993,9 @@
},
{
"id": "pmid:34718701",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34718701",
- "title": "FAN1's protection against CGG repeat expansion requires its nuclease activity and is FANCD2-independent.",
- "type": "article-journal",
- "doi": "10.1093/nar/gkab899",
- "authors": [
- ["Xiaonan", "Zhao"],
- ["Huiyan", "Lu"],
- ["Karen", "Usdin"]
- ],
- "publisher": "Nucleic acids research",
- "issn": "1362-4962",
- "date": "2021-11-18",
- "abstract": "The Repeat Expansion Diseases, a large group of human diseases that includes the fragile X-related disorders (FXDs) and Huntington's disease (HD), all result from expansion of a disease-specific microsatellite via a mechanism that is not fully understood. We have previously shown that mismatch repair (MMR) proteins are required for expansion in a mouse model of the FXDs, but that the FANCD2 and FANCI associated nuclease 1 (FAN1), a component of the Fanconi anemia (FA) DNA repair pathway, is protective. FAN1's nuclease activity has been reported to be dispensable for protection against expansion in an HD cell model. However, we show here that in a FXD mouse model a point mutation in the nuclease domain of FAN1 has the same effect on expansion as a null mutation. Furthermore, we show that FAN1 and another nuclease, EXO1, have an additive effect in protecting against MSH3-dependent expansions. Lastly, we show that the loss of FANCD2, a vital component of the Fanconi anemia DNA repair pathway, has no effect on expansions. Thus, FAN1 protects against MSH3-dependent expansions without diverting the expansion intermediates into the canonical FA pathway and this protection depends on FAN1 having an intact nuclease domain.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34718701"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34718701",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34718701']' timed out after 3 seconds"
},
{
"id": "pmid:34681268",
@@ -113353,106 +116062,27 @@
},
{
"id": "pmid:34658796",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34658796",
- "title": "Mislocalization of Nucleocytoplasmic Transport Proteins in Human Huntington's Disease PSC-Derived Striatal Neurons.",
- "type": "article-journal",
- "doi": "10.3389/fncel.2021.742763",
- "authors": [
- ["Jenny", "Lange"],
- ["Alison", "Wood-Kaczmar"],
- ["Aneesa", "Ali"],
- ["Sahar", "Farag"],
- ["Rhia", "Ghosh"],
- ["Jennifer", "Parker"],
- ["Caroline", "Casey"],
- ["Yumiko", "Uno"],
- ["Akiyoshi", "Kunugi"],
- ["Patrizia", "Ferretti"],
- ["Ralph", "Andre"],
- ["Sarah J", "Tabrizi"]
- ],
- "publisher": "Frontiers in cellular neuroscience",
- "issn": "1662-5102",
- "date": "2021-09-29",
- "abstract": "Huntington's disease (HD) is an inherited neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34658796"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34658796",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34658796']' timed out after 3 seconds"
},
{
"id": "pmid:34631219",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34631219",
- "title": "Targeting Mitochondrial Network Disorganization is Protective in",
- "type": "article-journal",
- "doi": "10.14336/ad.2021.0404",
- "authors": [
- ["Emily", "Machiela"],
- ["Paige D", "Rudich"],
- ["Annika", "Traa"],
- ["Ulrich", "Anglas"],
- ["Sonja K", "Soo"],
- ["Megan M", "Senchuk"],
- ["Jeremy M", "Van Raamsdonk"]
- ],
- "publisher": "Aging and disease",
- "issn": "2152-5250",
- "date": "2021-10-01",
- "abstract": "Huntington's disease (HD) is an adult-onset neurodegenerative disease caused by a trinucleotide CAG repeat expansion in the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34631219"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34631219",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34631219']' timed out after 3 seconds"
},
{
"id": "pmid:34608934",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34608934",
- "title": "Huntingtin CAG expansion impairs germ layer patterning in synthetic human 2D gastruloids through polarity defects.",
- "type": "article-journal",
- "doi": "10.1242/dev.199513",
- "authors": [
- ["Szilvia", "Galgoczi"],
- ["Albert", "Ruzo"],
- ["Christian", "Markopoulos"],
- ["Anna", "Yoney"],
- ["Tien", "Phan-Everson"],
- ["Shu", "Li"],
- ["Tomomi", "Haremaki"],
- ["Jakob J", "Metzger"],
- ["Fred", "Etoc"],
- ["Ali H", "Brivanlou"]
- ],
- "publisher": "Development (Cambridge, England)",
- "issn": "1477-9129",
- "date": "2021-10-05",
- "abstract": "Huntington's disease (HD) is a fatal neurodegenerative disorder caused by an expansion of the CAG repeats in the huntingtin gene (HTT). Although HD has been shown to have a developmental component, how early during human embryogenesis the HTT-CAG expansion can cause embryonic defects remains unknown. Here, we demonstrate a specific and highly reproducible CAG length-dependent phenotypic signature in a synthetic model for human gastrulation derived from human embryonic stem cells (hESCs). Specifically, we observed a reduction in the extension of the ectodermal compartment that is associated with enhanced activin signaling. Surprisingly, rather than a cell-autonomous effect, tracking the dynamics of TGF\u03b2 signaling demonstrated that HTT-CAG expansion perturbs the spatial restriction of activin response. This is due to defects in the apicobasal polarization in the context of the polarized epithelium of the 2D gastruloid, leading to ectopic subcellular localization of TGF\u03b2 receptors. This work refines the earliest developmental window for the prodromal phase of HD to the first 2 weeks of human development, as modeled by our 2D gastruloids.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34608934"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34608934",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34608934']' timed out after 3 seconds"
},
{
"id": "pmid:34539331",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34539331",
- "title": "Neurofilament Light Chain and Intermediate HTT Alleles as Combined Biomarkers in Italian ALS Patients.",
- "type": "article-journal",
- "doi": "10.3389/fnins.2021.695049",
- "authors": [
- ["Assunta", "Ingannato"],
- ["Silvia", "Bagnoli"],
- ["Salvatore", "Mazzeo"],
- ["Valentina", "Bessi"],
- ["Sabrina", "Mat\u00e0"],
- ["Monica", "Del Mastio"],
- ["Gemma", "Lombardi"],
- ["Camilla", "Ferrari"],
- ["Sandro", "Sorbi"],
- ["Benedetta", "Nacmias"]
- ],
- "publisher": "Frontiers in neuroscience",
- "issn": "1662-4548",
- "date": "2021-09-03",
- "abstract": "To study the possible implication of the two biomarkers, intermediate alleles (IAs) of the Huntingtin (HTT) gene and neurofilament light chain (NfL) levels in plasma, in amyotrophic lateral sclerosis (ALS) patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34539331"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34539331",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34539331']' timed out after 3 seconds"
},
{
"id": "pmid:34536046",
@@ -113476,76 +116106,15 @@
},
{
"id": "pmid:34520257",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34520257",
- "title": "Oligonucleotides Targeting DNA Repeats Downregulate",
- "type": "article-journal",
- "doi": "10.1089/nat.2021.0021",
- "authors": [
- ["Tea", "Umek"],
- ["Thomas", "Olsson"],
- ["Olof", "Gissberg"],
- ["Osama", "Saher"],
- ["Eman M", "Zaghloul"],
- ["Karin E", "Lundin"],
- ["Jesper", "Wengel"],
- ["Eric", "Hanse"],
- ["Henrik", "Zetterberg"],
- ["Dzeneta", "Vizlin-Hodzic"],
- ["C I Edvard", "Smith"],
- ["Rula", "Zain"]
- ],
- "publisher": "Nucleic acid therapeutics",
- "issn": "2159-3345",
- "date": "2021-09-13",
- "abstract": "Huntington's disease (HD) is one of the most common, dominantly inherited neurodegenerative disorders. It affects the striatum, cerebral cortex, and other subcortical structures leading to involuntary movement abnormalities, emotional disturbances, and cognitive impairments. HD is caused by a CAG\u2022CTG trinucleotide-repeat expansion in exon 1 of the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34520257"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34520257",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34520257']' timed out after 3 seconds"
},
{
"id": "pmid:34504195",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34504195",
- "title": "Pharmacological characterization of mutant huntingtin aggregate-directed PET imaging tracer candidates.",
- "type": "article-journal",
- "doi": "10.1038/s41598-021-97334-z",
- "authors": [
- ["Frank", "Herrmann"],
- ["Manuela", "Hessmann"],
- ["Sabine", "Schaertl"],
- ["Karola", "Berg-Rosseburg"],
- ["Christopher J", "Brown"],
- ["Galina", "Bursow"],
- ["Anass", "Chiki"],
- ["Andreas", "Ebneth"],
- ["Miriam", "Gehrmann"],
- ["Nicole", "Hoeschen"],
- ["Madlen", "Hotze"],
- ["Stefanie", "Jahn"],
- ["Peter D", "Johnson"],
- ["Vinod", "Khetarpal"],
- ["Alex", "Kiselyov"],
- ["Karsten", "Kottig"],
- ["Stefanie", "Ladewig"],
- ["Hilal", "Lashuel"],
- ["Sven", "Letschert"],
- ["Matthew R", "Mills"],
- ["Kathrin", "Petersen"],
- ["Michael E", "Prime"],
- ["Christoph", "Scheich"],
- ["Gerhard", "Schmiedel"],
- ["John", "Wityak"],
- ["Longbin", "Liu"],
- ["Celia", "Dominguez"],
- ["Ignacio", "Mu\u00f1oz-Sanju\u00e1n"],
- ["Jonathan A", "Bard"]
- ],
- "publisher": "Scientific reports",
- "issn": "2045-2322",
- "date": "2021-09-09",
- "abstract": "Huntington's disease (HD) is caused by a CAG trinucleotide repeat expansion in the first exon of the huntingtin (HTT) gene coding for the huntingtin (HTT) protein. The misfolding and consequential aggregation of CAG-expanded mutant HTT (mHTT) underpin HD pathology. Our interest in the life cycle of HTT led us to consider the development of high-affinity small-molecule binders of HTT oligomerized/amyloid-containing species that could serve as either cellular and in vivo imaging tools or potential therapeutic agents. We recently reported the development of PET tracers CHDI-180 and CHDI-626 as suitable for imaging mHTT aggregates, and here we present an in-depth pharmacological investigation of their binding characteristics. We have implemented an array of in vitro and ex vivo radiometric binding assays using recombinant HTT, brain homogenate-derived HTT aggregates, and brain sections from mouse HD models and humans post-mortem to investigate binding affinities and selectivity against other pathological proteins from indications such as Alzheimer's disease and spinocerebellar ataxia 1. Radioligand binding assays and autoradiography studies using brain homogenates and tissue sections from HD mouse models showed that CHDI-180 and CHDI-626 specifically bind mHTT aggregates that accumulate with age and disease progression. Finally, we characterized CHDI-180 and CHDI-626 regarding their off-target selectivity and binding affinity to beta amyloid plaques in brain sections and homogenates from Alzheimer's disease patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34504195"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34504195",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34504195']' timed out after 3 seconds"
},
{
"id": "pmid:34492254",
@@ -113574,132 +116143,33 @@
},
{
"id": "pmid:34473992",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34473992",
- "title": "DNA polymerase \u03b8 promotes CAG\u2022CTG repeat expansions in Huntington's disease via insertion sequences of its catalytic domain.",
- "type": "article-journal",
- "doi": "10.1016/j.jbc.2021.101144",
- "authors": [
- ["Kara Y", "Chan"],
- ["Xueying", "Li"],
- ["Janice", "Ortega"],
- ["Liya", "Gu"],
- ["Guo-Min", "Li"]
- ],
- "publisher": "The Journal of biological chemistry",
- "issn": "1083-351X",
- "date": "2021-08-30",
- "abstract": "Huntington's disease (HD), a neurodegenerative disease characterized by progressive dementia, psychiatric problems, and chorea, is known to be caused by CAG repeat expansions in the HD gene HTT. However, the mechanism of this pathology is not fully understood. The translesion DNA polymerase \u03b8\u00a0(Pol\u03b8) carries a large insertion sequence in its catalytic domain, which has been shown to allow DNA loop-outs in the primer strand. As a result of high levels of oxidative DNA damage in neural cells and Pol\u03b8's subsequent involvement in base excision repair of oxidative DNA damage, we hypothesized that Pol\u03b8 contributes to CAG repeat expansion while repairing oxidative damage within HTT. Here, we performed Pol\u03b8-catalyzed in\u00a0vitro DNA synthesis using various CAG\u2022CTG repeat DNA substrates that are similar to base excision repair intermediates. We show that Pol\u03b8 efficiently extends (CAG)",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34473992"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34473992",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34473992']' timed out after 3 seconds"
},
{
"id": "pmid:34469738",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34469738",
- "title": "FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington's disease.",
- "type": "article-journal",
- "doi": "10.1016/j.celrep.2021.109649",
- "authors": [
- ["Robert", "Goold"],
- ["Joseph", "Hamilton"],
- ["Thomas", "Menneteau"],
- ["Michael", "Flower"],
- ["Emma L", "Bunting"],
- ["Sarah G", "Aldous"],
- ["Antonio", "Porro"],
- ["Jos\u00e9 R", "Vicente"],
- ["Nicholas D", "Allen"],
- ["Hilary", "Wilkinson"],
- ["Gillian P", "Bates"],
- ["Alessandro A", "Sartori"],
- ["Konstantinos", "Thalassinos"],
- ["Gabriel", "Balmus"],
- ["Sarah J", "Tabrizi"]
- ],
- "publisher": "Cell reports",
- "issn": "2211-1247",
- "date": "2021-08-31",
- "abstract": "CAG repeat expansion in the HTT gene drives Huntington's disease (HD) pathogenesis and is modulated by DNA damage repair pathways. In this context, the interaction between FAN1, a DNA-structure-specific nuclease, and MLH1, member of the DNA mismatch repair pathway (MMR), is not defined. Here, we identify a highly conserved SPYF motif at the N terminus of FAN1 that binds to MLH1. Our data support a model where FAN1 has two distinct functions to stabilize CAG repeats. On one hand, it binds MLH1 to restrict its recruitment by MSH3, thus inhibiting the assembly of a functional MMR complex that would otherwise promote CAG repeat expansion. On the other hand, it promotes accurate repair via its nuclease activity. These data highlight a potential avenue for HD therapeutics in attenuating somatic expansion.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34469738"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34469738",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34469738']' timed out after 3 seconds"
},
{
"id": "pmid:34423286",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34423286",
- "title": "A Multi-Study Model-Based Evaluation of the Sequence of Imaging and Clinical Biomarker Changes in Huntington's Disease.",
- "type": "article-journal",
- "doi": "10.3389/fdata.2021.662200",
- "authors": [
- ["Peter A", "Wijeratne"],
- ["Eileanoir B", "Johnson"],
- ["Sarah", "Gregory"],
- ["Nellie", "Georgiou-Karistianis"],
- ["Jane S", "Paulsen"],
- ["Rachael I", "Scahill"],
- ["Sarah J", "Tabrizi"],
- ["Daniel C", "Alexander"]
- ],
- "publisher": "Frontiers in big data",
- "issn": "2624-909X",
- "date": "2021-08-05",
- "abstract": "Understanding the order and progression of change in biomarkers of neurodegeneration is essential to detect the effects of pharmacological interventions on these biomarkers. In Huntington's disease (HD), motor, cognitive and MRI biomarkers are currently used in clinical trials of drug efficacy. Here for the first time we use directly compare data from three large observational studies of HD (total",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34423286"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34423286",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34423286']' timed out after 3 seconds"
},
{
"id": "pmid:34423068",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34423068",
- "title": "Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review.",
- "type": "article-journal",
- "doi": "10.1177/2329048x211036137",
- "authors": [
- ["Ashley A", "Moeller"],
- ["Marcia V", "Felker"],
- ["Jennifer A", "Brault"],
- ["Laura C", "Duncan"],
- ["Rizwan", "Hamid"],
- ["Meredith R", "Golomb"]
- ],
- "publisher": "Child neurology open",
- "issn": "2329-048X",
- "date": "2021-08-05",
- "abstract": "Huntington disease (HD) is caused by a pathologic cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34423068"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34423068",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34423068']' timed out after 3 seconds"
},
{
"id": "pmid:34376056",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34376056",
- "title": "Allele-Specific Knockdown of Mutant Huntingtin Protein via Editing at Coding Region Single Nucleotide Polymorphism Heterozygosities.",
- "type": "article-journal",
- "doi": "10.1089/hum.2020.323",
- "authors": [
- ["Sarah R", "Oikemus"],
- ["Edith L", "Pfister"],
- ["Ellen", "Sapp"],
- ["Kathryn O", "Chase"],
- ["Lori A", "Kennington"],
- ["Edward", "Hudgens"],
- ["Rachael", "Miller"],
- ["Lihua Julie", "Zhu"],
- ["Akanksh", "Chaudhary"],
- ["Eric O", "Mick"],
- ["Miguel", "Sena-Esteves"],
- ["Scot A", "Wolfe"],
- ["Marian", "DiFiglia"],
- ["Neil", "Aronin"],
- ["Michael H", "Brodsky"]
- ],
- "publisher": "Human gene therapy",
- "issn": "1557-7422",
- "date": "2022-01-01",
- "abstract": "Huntington's disease (HD) is a devastating, autosomal dominant neurodegenerative disease caused by a trinucleotide repeat expansion in the huntingtin (HTT) gene. Inactivation of the mutant allele by clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9 based gene editing offers a possible therapeutic approach for this disease, but permanent disruption of normal HTT function might compromise adult neuronal function. Here, we use a novel HD mouse model to examine allele-specific editing of mutant HTT (mHTT), with a BAC97 transgene expressing mHTT and a YAC18 transgene expressing normal HTT. We achieve allele-specific inactivation of HTT by targeting a protein coding sequence containing a common, heterozygous single nucleotide polymorphism (SNP). The outcome is a marked and allele-selective reduction of mHTT protein in a mouse model of HD. Expression of a single CRISPR-Cas9 nuclease in neurons generated a high frequency of mutations in the targeted HD allele that included both small insertion/deletion (InDel) mutations and viral vector insertions. Thus, allele-specific targeting of InDel and insertion mutations to heterozygous coding region SNPs provides a feasible approach to inactivate autosomal dominant mutations that cause genetic disease.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34376056"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34376056",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34376056']' timed out after 3 seconds"
},
{
"id": "pmid:34366363",
@@ -113727,35 +116197,9 @@
},
{
"id": "pmid:34330701",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34330701",
- "title": "FAN1-MLH1 interaction affects repair of DNA interstrand cross-links and slipped-CAG/CTG repeats.",
- "type": "article-journal",
- "doi": "10.1126/sciadv.abf7906",
- "authors": [
- ["Antonio", "Porro"],
- ["Mohiuddin", "Mohiuddin"],
- ["Christina", "Zurfluh"],
- ["Vincent", "Spegg"],
- ["Jingqi", "Dai"],
- ["Florence", "Iehl"],
- ["Virginie", "Ropars"],
- ["Giulio", "Collotta"],
- ["Keri M", "Fishwick"],
- ["Nour L", "Mozaffari"],
- ["Rapha\u00ebl", "Gu\u00e9rois"],
- ["Josef", "Jiricny"],
- ["Matthias", "Altmeyer"],
- ["Jean-Baptiste", "Charbonnier"],
- ["Christopher E", "Pearson"],
- ["Alessandro A", "Sartori"]
- ],
- "publisher": "Science advances",
- "issn": "2375-2548",
- "date": "2021-07-30",
- "abstract": "FAN1, a DNA structure-specific nuclease, interacts with MLH1, but the repair pathways in which this complex acts are unknown. FAN1 processes DNA interstrand crosslinks (ICLs) and FAN1 variants are modifiers of the neurodegenerative Huntington's disease (HD), presumably by regulating HD-causing CAG repeat expansions. Here, we identify specific amino acid residues in two adjacent FAN1 motifs that are critical for MLH1 binding. Disruption of the FAN1-MLH1 interaction confers cellular hypersensitivity to ICL damage and defective repair of CAG/CTG slip-outs, intermediates of repeat expansion mutations. FAN1-S126 phosphorylation, which hinders FAN1-MLH1 association, is cell cycle-regulated by cyclin-dependent kinase activity and attenuated upon ICL induction. Our data highlight the FAN1-MLH1 complex as a phosphorylation-regulated determinant of ICL response and repeat stability, opening novel paths to modify cancer and neurodegeneration.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34330701"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34330701",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34330701']' timed out after 3 seconds"
},
{
"id": "pmid:34301881",
@@ -113780,36 +116224,9 @@
},
{
"id": "pmid:34296279",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34296279",
- "title": "Immortalized striatal precursor neurons from Huntington's disease patient-derived iPS cells as a platform for target identification and screening for experimental therapeutics.",
- "type": "article-journal",
- "doi": "10.1093/hmg/ddab200",
- "authors": [
- ["Sergey S", "Akimov"],
- ["Mali", "Jiang"],
- ["Amanda J", "Kedaigle"],
- ["Nicolas", "Arbez"],
- ["Leonard O", "Marque"],
- ["Chelsy R", "Eddings"],
- ["Paul T", "Ranum"],
- ["Emma", "Whelan"],
- ["Anthony", "Tang"],
- ["Ronald", "Wang"],
- ["Lauren R", "DeVine"],
- ["Conover C", "Talbot"],
- ["Robert N", "Cole"],
- ["Tamara", "Ratovitski"],
- ["Beverly L", "Davidson"],
- ["Ernest", "Fraenkel"],
- ["Christopher A", "Ross"]
- ],
- "publisher": "Human molecular genetics",
- "issn": "1460-2083",
- "date": "2021-11-30",
- "abstract": "We have previously established induced pluripotent stem cell (iPSC) models of Huntington's disease (HD), demonstrating CAG-repeat-expansion-dependent cell biological changes and toxicity. However, the current differentiation protocols are cumbersome and time consuming, making preparation of large quantities of cells for biochemical or screening assays difficult. Here, we report the generation of immortalized striatal precursor neurons (ISPNs) with normal (33) and expanded (180) CAG repeats from HD iPSCs, differentiated to a phenotype resembling medium spiny neurons (MSN), as a proof of principle for a more tractable patient-derived cell model. For immortalization, we used co-expression of the enzymatic component of telomerase hTERT and conditional expression of c-Myc. ISPNs can be propagated as stable adherent cell lines, and rapidly differentiated into highly homogeneous MSN-like cultures within 2 weeks, as demonstrated by immunocytochemical criteria. Differentiated ISPNs recapitulate major HD-related phenotypes of the parental iPSC model, including brain-derived neurotrophic factor (BDNF)-withdrawal-induced cell death that can be rescued by small molecules previously validated in the parental iPSC model. Proteome and RNA-seq analyses demonstrate separation of HD versus control samples by principal component analysis. We identified several networks, pathways, and upstream regulators, also found altered in HD iPSCs, other HD models, and HD patient samples. HD ISPN lines may be useful for studying HD-related cellular pathogenesis, and for use as a platform for HD target identification and screening experimental therapeutics. The described approach for generation of ISPNs from differentiated patient-derived iPSCs could be applied to a larger allelic series of HD cell lines, and to comparable modeling of other genetic disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34296279"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34296279",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34296279']' timed out after 3 seconds"
},
{
"id": "pmid:34200421",
@@ -114044,26 +116461,9 @@
},
{
"id": "pmid:33983118",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33983118",
- "title": "Propensity for somatic expansion increases over the course of life in Huntington disease.",
- "type": "article-journal",
- "doi": "10.7554/elife.64674",
- "authors": [
- ["Radhia", "Kacher"],
- ["Fran\u00e7ois-Xavier", "Lejeune"],
- ["Sandrine", "No\u00ebl"],
- ["C\u00e9cile", "Cazeneuve"],
- ["Alexis", "Brice"],
- ["Sandrine", "Humbert"],
- ["Alexandra", "Durr"]
- ],
- "publisher": "eLife",
- "issn": "2050-084X",
- "date": "2021-05-13",
- "abstract": "Recent work on Huntington disease (HD) suggests that somatic instability of CAG repeat tracts, which can expand into the hundreds in neurons, explains clinical outcomes better than the length of the inherited allele. Here, we measured somatic expansion in blood samples collected from the same 50 HD mutation carriers over a twenty-year period, along with post-mortem tissue from 15 adults and 7 fetal mutation carriers, to examine somatic expansions at different stages of life. Post-mortem brains, as previously reported, had the greatest expansions, but fetal cortex had virtually none. Somatic instability in blood increased with age, despite blood cells being short-lived compared to neurons, and was driven mostly by CAG repeat length, then by age at sampling and by interaction between these two variables. Expansion rates were higher in symptomatic subjects. These data lend support to a previously proposed computational model of somatic instability-driven disease.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33983118"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/33983118",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33983118']' timed out after 3 seconds"
},
{
"id": "pmid:33949657",
@@ -114092,23 +116492,9 @@
},
{
"id": "pmid:33918672",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33918672",
- "title": "Genetic Screen in Adult Drosophila Reveals That dCBP Depletion in Glial Cells Mitigates Huntington Disease Pathology through a Foxo-Dependent Pathway.",
- "type": "article-journal",
- "doi": "10.3390/ijms22083884",
- "authors": [
- ["Elodie", "Martin"],
- ["Raheleh", "Heidari"],
- ["V\u00e9ronique", "Monnier"],
- ["Herv\u00e9", "Tricoire"]
- ],
- "publisher": "International journal of molecular sciences",
- "issn": "1422-0067",
- "date": "2021-04-09",
- "abstract": "Huntington's disease (HD) is a progressive and fatal autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in the first exon of the huntingtin gene (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33918672"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/33918672",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33918672']' timed out after 3 seconds"
},
{
"id": "pmid:33909994",
@@ -114139,49 +116525,15 @@
},
{
"id": "pmid:33907289",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33907289",
- "title": "The heat shock response, determined by QuantiGene multiplex, is impaired in HD mouse models and not caused by HSF1 reduction.",
- "type": "article-journal",
- "doi": "10.1038/s41598-021-88715-5",
- "authors": [
- ["Casandra", "Gomez-Paredes"],
- ["Michael A", "Mason"],
- ["Bridget A", "Taxy"],
- ["Aikaterini S", "Papadopoulou"],
- ["Paolo", "Paganetti"],
- ["Gillian P", "Bates"]
- ],
- "publisher": "Scientific reports",
- "issn": "2045-2322",
- "date": "2021-04-27",
- "abstract": "Huntington's disease (HD) is a devastating neurodegenerative disorder, caused by a CAG/polyglutamine repeat expansion, that results in the aggregation of the huntingtin protein, culminating in the deposition of inclusion bodies in HD patient brains. We have previously shown that the heat shock response becomes impaired with disease progression in mouse models of HD. The disruption of this inducible arm of the proteostasis network is likely to exacerbate the pathogenesis of this protein-folding disease. To allow a rapid and more comprehensive analysis of the heat shock response, we have developed, and validated, a 16-plex QuantiGene assay that allows the expression of Hsf1 and nine heat shock genes, to be measured directly, and simultaneously, from mouse tissue. We used this QuantiGene assay to show that, following pharmacological activation in vivo, the heat shock response impairment in tibialis anterior, brain hemispheres and striatum was comparable between zQ175 and R6/2 mice. In contrast, although a heat shock impairment could be detected in R6/2 cortex, this was not apparent in the cortex from zQ175 mice. Whilst the mechanism underlying this impairment remains unknown, our data indicated that it is not caused by a reduction in HSF1 levels, as had been reported.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33907289"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/33907289",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33907289']' timed out after 3 seconds"
},
{
"id": "pmid:33892278",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33892278",
- "title": "A series of cases with Huntington-like phenotype and intermediate repeats in HTT.",
- "type": "article-journal",
- "doi": "10.1016/j.jns.2021.117452",
- "authors": [
- ["Ant\u00eda", "Reguera Acu\u00f1a"],
- ["Esther", "Su\u00e1rez San Mart\u00edn"],
- ["Ciara", "Garc\u00eda Fern\u00e1ndez"],
- ["Santiago", "Fern\u00e1ndez Men\u00e9ndez"],
- ["Marta", "Bl\u00e1zquez Estrada"],
- ["Manuel", "Amor\u00edn D\u00edaz"],
- ["Manuel", "Men\u00e9ndez Gonz\u00e1lez"],
- ["Victoria", "\u00c1lvarez Mart\u00ednez"]
- ],
- "publisher": "Journal of the neurological sciences",
- "issn": "1878-5883",
- "date": "2021-04-16",
- "abstract": "Intermediate Alleles (IAs) are expansions of CAG repeats in the HTT gene between 27 and 35 repeats which pathogenic meaning remains controversial. They are present in the general population but there is an increasing number of cases with Huntington-like phenotype reported.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33892278"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/33892278",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33892278']' timed out after 3 seconds"
},
{
"id": "pmid:33824468",
@@ -114207,76 +116559,21 @@
},
{
"id": "pmid:33805940",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33805940",
- "title": "Longitudinal Evaluation of the Effect of Tricyclic Antidepressants and Neuroleptics on the Course of Huntington's Disease-Data from a Real World Cohort.",
- "type": "article-journal",
- "doi": "10.3390/brainsci11040413",
- "authors": [
- ["Jannis", "Achenbach"],
- ["Carsten", "Saft"],
- ["Simon", "Faissner"]
- ],
- "publisher": "Brain sciences",
- "issn": "2076-3425",
- "date": "2021-03-25",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33805940"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/33805940",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33805940']' timed out after 3 seconds"
},
{
"id": "pmid:33766994",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33766994",
- "title": "Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease.",
- "type": "article-journal",
- "doi": "10.1212/wnl.0000000000011893",
- "authors": [
- ["Branduff", "McAllister"],
- ["James F", "Gusella"],
- ["G Bernhard", "Landwehrmeyer"],
- ["Jong-Min", "Lee"],
- ["Marcy E", "MacDonald"],
- ["Michael", "Orth"],
- ["Anne E", "Rosser"],
- ["Nigel M", "Williams"],
- ["Peter", "Holmans"],
- ["Lesley", "Jones"],
- ["Thomas H", "Massey"]
- ],
- "publisher": "Neurology",
- "issn": "1526-632X",
- "date": "2021-03-25",
- "abstract": "To assess the prevalence, timing, and functional impact of psychiatric, cognitive, and motor abnormalities in Huntington disease (HD) gene carriers, we analyzed retrospective clinical data from individuals with manifest HD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33766994"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/33766994",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33766994']' timed out after 3 seconds"
},
{
"id": "pmid:33751106",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33751106",
- "title": "Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection.",
- "type": "article-journal",
- "doi": "10.1093/nar/gkab152",
- "authors": [
- ["Jennie C L", "Roy"],
- ["Antonia", "Vitalo"],
- ["Marissa A", "Andrew"],
- ["Eduarda", "Mota-Silva"],
- ["Marina", "Kovalenko"],
- ["Zoe", "Burch"],
- ["Anh M", "Nhu"],
- ["Paula E", "Cohen"],
- ["Ed", "Grabczyk"],
- ["Vanessa C", "Wheeler"],
- ["Ricardo", "Mouro Pinto"]
- ],
- "publisher": "Nucleic acids research",
- "issn": "1362-4962",
- "date": "2021-04-19",
- "abstract": "Somatic expansion of the CAG repeat tract that causes Huntington's disease (HD) is thought to contribute to the rate of disease pathogenesis. Therefore, factors influencing repeat expansion are potential therapeutic targets. Genes in the DNA mismatch repair pathway are critical drivers of somatic expansion in HD mouse models. Here, we have tested, using genetic and pharmacological approaches, the role of the endonuclease domain of the mismatch repair protein MLH3 in somatic CAG expansion in HD mice and patient cells. A point mutation in the MLH3 endonuclease domain completely eliminated CAG expansion in the brain and peripheral tissues of a HD knock-in mouse model (HttQ111). To test whether the MLH3 endonuclease could be manipulated pharmacologically, we delivered splice switching oligonucleotides in mice to redirect Mlh3 splicing to exclude the endonuclease domain. Splice redirection to an isoform lacking the endonuclease domain was associated with reduced CAG expansion. Finally, CAG expansion in HD patient-derived primary fibroblasts was also significantly reduced by redirecting MLH3 splicing to the endogenous endonuclease domain-lacking isoform. These data indicate the potential of targeting the MLH3 endonuclease domain to slow somatic CAG repeat expansion in HD, a therapeutic strategy that may be applicable across multiple repeat expansion disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33751106"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/33751106",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33751106']' timed out after 3 seconds"
},
{
"id": "pmid:33731741",
@@ -114419,26 +116716,9 @@
},
{
"id": "pmid:33675499",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33675499",
- "title": "Small Non-coding RNAs Are Dysregulated in Huntington's Disease Transgenic Mice Independently of the Therapeutic Effects of an Environmental Intervention.",
- "type": "article-journal",
- "doi": "10.1007/s12035-021-02342-9",
- "authors": [
- ["Celine", "Dubois"],
- ["Geraldine", "Kong"],
- ["Harvey", "Tran"],
- ["Shanshan", "Li"],
- ["Terence Y", "Pang"],
- ["Anthony J", "Hannan"],
- ["Thibault", "Renoir"]
- ],
- "publisher": "Molecular neurobiology",
- "issn": "1559-1182",
- "date": "2021-03-06",
- "abstract": "Huntington's disease (HD) is a neurodegenerative disorder caused by a trinucleotide repeat expansion in the huntingtin gene. Transcriptomic dysregulations are well-documented in HD and alterations in small non-coding RNAs (sncRNAs), particularly microRNAs (miRNAs), could underpin that phenomenon. Additionally, environmental enrichment (EE), which is used to model a stimulating lifestyle in pre-clinical research, has been shown to ameliorate HD-related symptoms. However, the mechanisms mediating the therapeutic effects of EE remain largely unknown. This study assessed the effect of EE on sncRNA expression in the striatum of female R6/1 transgenic HD mice at 12 weeks (prior to over motor deficits) and 20 weeks (fully symptomatic) of age. When comparing wild-type and R6/1 mice in the standard housing condition, we found 6 and 64 miRNAs that were differentially expressed at 12 and 20 weeks of age, respectively. The 6 miRNAs (miR-132, miR-212, miR-222, miR-1a, miR-467a, and miR-669c) were commonly dysregulated at both time points. Additionally, genotype had minor effects on the levels of other sncRNAs, in particular, 1 piRNA was dysregulated at 12 weeks of age, and at 20 weeks of age 11 piRNAs, 1 tRNA- and 2 snoRNA-derived fragments were altered in HD mice. No difference in the abundance of other sncRNA subtypes, including rRNA- and snRNA- derived fragments, were observed. While EE improved locomotor symptoms in HD, we found no effect of the housing condition on any of the sncRNA populations examined. Our findings show that HD mainly affects miRNAs and has a minor effect on other sncRNA populations. Furthermore, the therapeutic effects of EE are not associated with the rescue of these dysregulated sncRNAs and may therefore exert these experience-dependent effects via other molecular mechanisms.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33675499"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/33675499",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33675499']' timed out after 3 seconds"
},
{
"id": "pmid:33611676",
@@ -114464,24 +116744,9 @@
},
{
"id": "pmid:33606279",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33606279",
- "title": "An imaging mass spectrometry atlas of lipids in the human neurologically normal and Huntington's disease caudate nucleus.",
- "type": "article-journal",
- "doi": "10.1111/jnc.15325",
- "authors": [
- ["Mandana", "Hunter"],
- ["Nicholas J", "Demarais"],
- ["Richard L M", "Faull"],
- ["Angus C", "Grey"],
- ["Maurice A", "Curtis"]
- ],
- "publisher": "Journal of neurochemistry",
- "issn": "1471-4159",
- "date": "2021-03-08",
- "abstract": "Huntington's disease (HD) is a fatal disorder associated with germline trinucleotide repeat expansions in the HTT gene and characterised by striatal neurodegeneration. No efficacious interventions are available for HD, highlighting a major unmet medical need. The molecular mechanisms underlying HD are incompletely understood despite its monogenic aetiology. However, direct interactions between HTT and membrane lipids suggest that lipidomic perturbations may be implicated in the neuropathology of HD. In this study, we employed matrix-assisted laser desorption/ionisation imaging mass spectrometry (MALDI-IMS) to generate a comprehensive, unbiased and spatially resolved lipidomic atlas of the caudate nucleus (CN) in human post-mortem tissue from neurologically normal (n\u00a0=\u00a010) and HD (n\u00a0=\u00a013) subjects. Fourier transform-ion cyclotron resonance mass spectrometry and liquid chromatography-tandem mass spectrometry were used for lipid assignment. Lipidomic specialisation was observed in the grey and white matter constituents of the CN and these features were highly conserved between subjects. While the majority of lipid species were highly conserved in HD, compared to age-matched controls, CN specimens from HD cases in our cohort spanning a range of neuropathological grades showed a lower focal abundance of the neuroprotective docosahexaenoic and adrenic acids, several cardiolipins, the ganglioside GM1 and glycerophospholipids with long polyunsaturated fatty acyls. HD cases showed a higher focal abundance of several sphingomyelins and glycerophospholipids with shorter monosaturated fatty acyls. Moreover, we demonstrate that MALDI-IMS is tractable as a primary discovery modality comparing heterogeneous human brain tissue, provided that appropriate statistical approaches are adopted. Our findings support further investigation into the potential role of lipidomic aberrations in HD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33606279"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/33606279",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33606279']' timed out after 3 seconds"
},
{
"id": "pmid:33602179",
@@ -114512,54 +116777,15 @@
},
{
"id": "pmid:33581487",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33581487",
- "title": "Traffic generated emissions alter the lung microbiota by promoting the expansion of Proteobacteria in C57Bl/6 mice placed on a high-fat diet.",
- "type": "article-journal",
- "doi": "10.1016/j.ecoenv.2021.112035",
- "authors": [
- ["Sarah", "Daniel"],
- ["Vaidehi", "Pusadkar"],
- ["Jacob", "McDonald"],
- ["Julie", "Mirpuri"],
- ["Rajeev K", "Azad"],
- ["Art", "Goven"],
- ["Amie K", "Lund"]
- ],
- "publisher": "Ecotoxicology and environmental safety",
- "issn": "1090-2414",
- "date": "2021-02-11",
- "abstract": "Air pollution has been documented to contribute to severe respiratory diseases like asthma and chronic obstructive pulmonary disorder (COPD). Although these diseases demonstrate a shift in the lung microbiota towards Proteobacteria, the effects of traffic generated emissions on lung microbiota profiles have not been well-characterized. Thus, we investigated the hypothesis that exposure to traffic-generated emissions can alter lung microbiota and immune defenses. Since a large population of the Western world consumes a diet rich in fats, we sought to investigate the synergistic effects of mixed vehicle emissions and high-fat diet consumption. We exposed 3-month-old male C57Bl/6 mice placed either on regular chow (LF) or a high-fat (HF: 45% kcal fat) diet to mixed emissions (ME: 30\u00a0\u00b5g PM/m",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33581487"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/33581487",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33581487']' timed out after 3 seconds"
},
{
"id": "pmid:33579864",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33579864",
- "title": "Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation.",
- "type": "article-journal",
- "doi": "10.3233/jhd-200433",
- "authors": [
- ["Marc", "Ciosi"],
- ["Sarah A", "Cumming"],
- ["Afroditi", "Chatzi"],
- ["Eloise", "Larson"],
- ["William", "Tottey"],
- ["Vilija", "Lomeikaite"],
- ["Graham", "Hamilton"],
- ["Vanessa C", "Wheeler"],
- ["Ricardo Mouro", "Pinto"],
- ["Seung", "Kwak"],
- ["A Jennifer", "Morton"],
- ["Darren G", "Monckton"]
- ],
- "publisher": "Journal of Huntington's disease",
- "issn": "1879-6400",
- "date": "2021-01-01",
- "abstract": "Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of the HTT CAG repeat. Affected individuals inherit \u226536 repeats and longer alleles cause earlier onset, greater disease severity and faster disease progression. The HTT CAG repeat is genetically unstable in the soma in a process that preferentially generates somatic expansions, the proportion of which is associated with disease onset, severity and progression. Somatic mosaicism of the HTT CAG repeat has traditionally been assessed by semi-quantitative PCR-electrophoresis approaches that have limitations (e.g., no information about sequence variants). Genotyping-by-sequencing could allow for some of these limitations to be overcome.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33579864"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/33579864",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33579864']' timed out after 3 seconds"
},
{
"id": "pmid:33576024",
@@ -119583,23 +121809,9 @@
},
{
"id": "pmid:28129107",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/28129107",
- "title": "CRISPR/Cas9 Editing of the Mutant Huntingtin Allele In\u00a0Vitro and In\u00a0Vivo.",
- "type": "article-journal",
- "doi": "10.1016/j.ymthe.2016.11.010",
- "authors": [
- ["Alex Mas", "Monteys"],
- ["Shauna A", "Ebanks"],
- ["Megan S", "Keiser"],
- ["Beverly L", "Davidson"]
- ],
- "publisher": "Molecular therapy : the journal of the American Society of Gene Therapy",
- "issn": "1525-0024",
- "date": "2017-01-04",
- "abstract": "Huntington disease (HD) is a fatal dominantly inherited neurodegenerative disorder caused by CAG repeat expansion (>36 repeats) within the first exon of the huntingtin gene. Although mutant huntingtin (mHTT) is ubiquitously expressed, the brain shows robust and early degeneration. Current RNA interference-based approaches for lowering mHTT expression have been efficacious in mouse models, but basal mutant protein levels are still detected. To fully mitigate expression from the mutant allele, we hypothesize that allele-specific genome editing can occur via prevalent promoter-resident SNPs in heterozygosity with the mutant allele. Here, we identified SNPs that either cause or destroy PAM motifs critical for CRISPR-selective editing of one allele versus the other in cells from HD patients and in a transgenic HD model harboring the human allele.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28129107"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/28129107",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:28129107']' timed out after 3 seconds"
},
{
"id": "pmid:28096892",
@@ -119727,26 +121939,9 @@
},
{
"id": "pmid:27868347",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27868347",
- "title": "Identification of extreme motor phenotypes in Huntington's disease.",
- "type": "article-journal",
- "doi": "10.1002/ajmg.b.32514",
- "authors": [
- ["Ulrike", "Braisch"],
- ["Birgit", "Hay"],
- ["Rainer", "Muche"],
- ["Dietrich", "Rothenbacher"],
- ["G Bernhard", "Landwehrmeyer"],
- ["Jeffrey D", "Long"],
- ["Michael", "Orth"]
- ],
- "publisher": "American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics",
- "issn": "1552-485X",
- "date": "2016-11-21",
- "abstract": "The manifestation of motor signs in Huntington's disease (HD) has a well-known inverse relationship with HTT CAG repeat length, but the prediction is far from perfect. The probability of finding disease modifiers is enhanced in individuals with extreme HD phenotypes. We aimed to identify extreme HD motor phenotypes conditional on CAG and age, such as patients with very early or very late onset of motor manifestation. Retrospective data were available from 1,218 healthy controls and 9,743 HD participants with CAG repeats \u226540, and a total of about 30,000 visits. Boundaries (2.5% and 97.5% quantiles) for extreme motor phenotypes (UHDRS total motor score (TMS) and motor age-at-onset) were estimated using quantile regression for longitudinal data. More than 15% of HD participants had an extreme TMS phenotype for at least one visit. In contrast, only about 4% of participants were consistent TMS extremes at two or more visits. Data from healthy controls revealed an upper cut-off of 13 for the TMS representing the extreme of motor ratings for a normal aging population. In HD, boundaries of motor age-at-onset based on diagnostic confidence or derived from the TMS data cut-off in controls were similar. In summary, a UHDRS TMS of more than 13 in an individual carrying the HD mutation indicates a high likelihood of motor manifestations of HD irrespective of CAG repeat length or age. The identification of motor phenotype extremes can be useful in the search for disease modifiers, for example, genetic or environmental such as medication. \u00a9 2016 Wiley Periodicals, Inc.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27868347"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/27868347",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:27868347']' timed out after 3 seconds"
},
{
"id": "pmid:27818324",
@@ -119872,28 +122067,9 @@
},
{
"id": "pmid:27677791",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27677791",
- "title": "CAG Expansions Are Genetically Stable and Form Nontoxic Aggregates in Cells Lacking Endogenous Polyglutamine Proteins.",
- "type": "article-journal",
- "doi": "10.1128/mbio.01367-16",
- "authors": [
- ["Ashley A", "Zurawel"],
- ["Ruth", "Kabeche"],
- ["Sonja E", "DiGregorio"],
- ["Lin", "Deng"],
- ["Kartikeya M", "Menon"],
- ["Hannah", "Opalko"],
- ["Martin L", "Duennwald"],
- ["James B", "Moseley"],
- ["Surachai", "Supattapone"]
- ],
- "publisher": "mBio",
- "issn": "2150-7511",
- "date": "2016-09-27",
- "abstract": "Proteins containing polyglutamine (polyQ) regions are found in almost all eukaryotes, albeit with various frequencies. In humans, proteins such as huntingtin (Htt) with abnormally expanded polyQ regions cause neurodegenerative diseases such as Huntington's disease (HD). To study how the presence of endogenous polyQ aggregation modulates polyQ aggregation and toxicity, we expressed polyQ expanded Htt fragments (polyQ Htt) in Schizosaccharomyces pombe In stark contrast to other unicellular fungi, such as Saccharomyces cerevisiae, S.\u00a0pombe is uniquely devoid of proteins with more than 10 Q repeats. We found that polyQ Htt forms aggregates within S.\u00a0pombe cells only with exceedingly long polyQ expansions. Surprisingly, despite the presence of polyQ Htt aggregates in both the cytoplasm and nucleus, no significant growth defect was observed in S.\u00a0pombe cells. Further, PCR analysis showed that the repetitive polyQ-encoding DNA region remained constant following transformation and after multiple divisions in S.\u00a0pombe, in contrast to the genetic instability of polyQ DNA sequences in other organisms. These results demonstrate that cells with a low content of polyQ or other aggregation-prone proteins can show a striking resilience with respect to polyQ toxicity and that genetic instability of repetitive DNA sequences may have played an important role in the evolutionary emergence and exclusion of polyQ expansion proteins in different organisms.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27677791"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/27677791",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:27677791']' timed out after 3 seconds"
},
{
"id": "pmid:27662335",
@@ -119941,25 +122117,9 @@
},
{
"id": "pmid:27639545",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27639545",
- "title": "In vivo proof-of-concept of removal of the huntingtin caspase cleavage motif-encoding exon 12 approach in the YAC128 mouse model of Huntington's disease.",
- "type": "article-journal",
- "doi": "10.1016/j.biopha.2016.09.007",
- "authors": [
- ["Jo\u00e3o", "Casaca-Carreira"],
- ["Lodewijk J A", "Toonen"],
- ["Melvin M", "Evers"],
- ["Ali", "Jahanshahi"],
- ["Willeke M C", "van-Roon-Mom"],
- ["Yasin", "Temel"]
- ],
- "publisher": "Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie",
- "issn": "1950-6007",
- "date": "2016-09-16",
- "abstract": "Huntington's disease (HD) is a progressive autosomal dominant disease, caused by a CAG repeat expansion in the HTT gene, resulting in an expanded polyglutamine stretch at the N-terminal of the huntingtin protein. An important event in HD pathogenesis appears to be the proteolysis of the mutant protein, which forms N-terminal huntingtin fragments. These fragments form insoluble aggregates and are found in nuclei and cytoplasm of affected neurons where they interfere with normal cell functioning. Important cleavage sites are encoded by exon 12 of HTT. A novel approach is Htt protein modification through exon skipping, which has recently been proven effective both in vitro and in vivo. Here we report proof-of-concept of AON 12.1 in vivo using the YAC128 mouse model of HD. Our results support and encourage future longitudinal studies exploring the therapeutic effects of sustained infusions in the YAC128 mouse model.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27639545"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/27639545",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:27639545']' timed out after 3 seconds"
},
{
"id": "pmid:27611938",
@@ -120948,28 +123108,9 @@
},
{
"id": "pmid:26410751",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/26410751",
- "title": "Motor onset and diagnosis in Huntington disease using the diagnostic confidence level.",
- "type": "article-journal",
- "doi": "10.1007/s00415-015-7900-7",
- "authors": [
- ["Dawei", "Liu"],
- ["Jeffrey D", "Long"],
- ["Ying", "Zhang"],
- ["Lynn A", "Raymond"],
- ["Karen", "Marder"],
- ["Anne", "Rosser"],
- ["Elizabeth A", "McCusker"],
- ["James A", "Mills"],
- ["Jane S", "Paulsen"]
- ],
- "publisher": "Journal of neurology",
- "issn": "1432-1459",
- "date": "2015-09-26",
- "abstract": "Huntington disease (HD) is a neurodegenerative disorder characterized by motor dysfunction, cognitive deterioration, and psychiatric symptoms, with progressive motor impairments being a prominent feature. The primary objectives of this study are to delineate the disease course of motor function in HD, to provide estimates of the onset of motor impairments and motor diagnosis, and to examine the effects of genetic and demographic variables on the progression of motor impairments. Data from an international multisite, longitudinal observational study of 905 prodromal HD participants with cytosine-adenine-guanine (CAG) repeats of at least 36 and with at least two visits during the followup period from 2001 to 2012 was examined for changes in the diagnostic confidence level from the Unified Huntington's Disease Rating Scale. HD progression from unimpaired to impaired motor function, as well as the progression from motor impairment to diagnosis, was associated with the linear effect of age and CAG repeat length. Specifically, for every 1-year increase in age, the risk of transition in diagnostic confidence level increased by 11% (95% CI 7-15%) and for one repeat length increase in CAG, the risk of transition in diagnostic confidence level increased by 47% (95% CI 27-69%). Findings show that CAG repeat length and age increased the likelihood of the first onset of motor impairment as well as the age at diagnosis. Results suggest that more accurate estimates of HD onset age can be obtained by incorporating the current status of diagnostic confidence level into predictive models.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26410751"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/26410751",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:26410751']' timed out after 3 seconds"
},
{
"id": "pmid:26397897",
@@ -134555,6 +136696,29 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9150168"
},
+{
+ "id": "pmid:9108071",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/9108071",
+ "title": "Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease.",
+ "type": "article-journal",
+ "doi": "10.1073/pnas.94.8.3872",
+ "authors": [
+ ["D C", "Rubinsztein"],
+ ["J", "Leggo"],
+ ["M", "Chiano"],
+ ["A", "Dodge"],
+ ["G", "Norbury"],
+ ["E", "Rosser"],
+ ["D", "Craufurd"]
+ ],
+ "publisher": "Proceedings of the National Academy of Sciences of the United States of America",
+ "issn": "0027-8424",
+ "date": "1997-04-15",
+ "abstract": "Huntington disease (HD) is associated with abnormal expansions of a CAG repeat close to the 5' end of the IT15 gene. We have assembled a set of 293 HD subjects whose ages of onset were known and sized their HD CAG repeats. These repeats accounted for 69% of the variance of age of onset when we used the most parsimonious model, which relates the logarithm of age of onset to a function of CAG repeat number. Since other familial factors have been proposed to influence the age of onset of HD, we have examined a number of candidate loci. The CAG repeat number on normal chromosomes, the delta2642 polymorphism in the HD gene, and apolipoprotein E genotypes did not affect the age of onset of HD. Although mitochondrial energy production defects in HD have led to suggestions that variants in the mitochondrial genome may be associated with clinical variability in HD, this suggestion was not supported by our preliminary experiments that examined the DdeI mitochondrial restriction fragment length polymorphism at position 10,394. Excitotoxicity has been a favored mechanism to explain the cell death in HD, particularly since intrastriatal injection of excitatory amino acids in animals creates HD-like pathology. Accordingly, we investigated the GluR6 kainate receptor. Of the variance in the age of onset of HD that was not accounted for by the CAG repeats, 13% could be attributed to GluR6 genotype variation. These data implicate GluR6-mediated excitotoxicity in the pathogenesis of HD and highlight the potential importance of this process in other polyglutamine repeat expansion diseases.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9108071"
+},
{
"id": "pmid:9106534",
"manubot_success": true,
@@ -136696,6 +138860,29 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33040085"
},
+{
+ "id": "pmid:42175825",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42175825",
+ "title": "Establishment and Molecular Characterization of a Short-Term Primary Culture Derived From Invasive Micropapillary Carcinoma of the Breast.",
+ "type": "article-journal",
+ "doi": "10.1002/cbin.70167",
+ "authors": [
+ ["Mamta", "Gurav"],
+ ["Omshree", "Shetty"],
+ ["Shalaka", "Joshi"],
+ ["Seema", "Gulia"],
+ ["Rohan", "Chaubal"],
+ ["Sudeep", "Gupta"],
+ ["Tanuja", "Shet"]
+ ],
+ "publisher": "Cell biology international",
+ "issn": "1095-8355",
+ "date": "2026-06-01",
+ "abstract": "Invasive micropapillary carcinoma (IMPC) of the breast, a rare and aggressive subtype, represents a unique morphology of reversed polarity with higher metastatic propensity. Due to the limited availability of experimental models, understanding distinct molecular pathways and potential therapeutic targets remains challenging. This study aimed to establish patient-derived cell cultures (PDCs) from IMPC to generate viable models for in-vitro studies. Tissue samples from five IMPC cases were enzymatically disaggregated using five different cell disaggregation protocols. These cells were characterized using immunofluorescence, short tandem repeats profiling, and real-time assays for tumor marker expression profiles. RNA sequencing was performed and compared with invasive ductal carcinoma, no special type (IDC-NST), to study differential gene expression and cell polarity markers. Two short-term PDCs were successfully established from IMPC samples with an optimized collagenase-based protocol. These cultures showed an immunohistochemical profile consistent with the original tumor tissues and maintained hormone receptor and MUC1 expression status. RNA sequencing of PDCs revealed similar gene expression patterns with matched tumor tissue and revealed upregulated RAP1, MAPK, and PI3K-AKT pathways, when compared with ER/PR-matched IDC. These PDCs also showed different gene expression patterns in cell-polarity associated genes, such as cadherins CDH2, tight junction gene MARVELD2, PAR complex gene PARD6B, and downregulation of the cell polarity CRB2 gene. This study indicated the need for an optimization of cell culture conditions and the feasibility of establishing patient-derived cell cultures from IMPC. These models provide a great tool to study molecular insights, cell polarity, and therapeutic research in a rare breast cancer subtype.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42175825"
+},
{
"id": "pmid:41961547",
"manubot_success": true,
@@ -137911,6 +140098,28 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23778023"
},
+{
+ "id": "pmid:23770070",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/23770070",
+ "title": "Identification of mucins by using a method involving a combination of on-membrane chemical deglycosylation and immunostaining.",
+ "type": "article-journal",
+ "doi": "10.1016/j.jim.2013.06.002",
+ "authors": [
+ ["Yu-ki", "Matsuno"],
+ ["Weijie", "Dong"],
+ ["Seiya", "Yokoyama"],
+ ["Suguru", "Yonezawa"],
+ ["Hisashi", "Narimatsu"],
+ ["Akihiko", "Kameyama"]
+ ],
+ "publisher": "Journal of immunological methods",
+ "issn": "1872-7905",
+ "date": "2013-06-14",
+ "abstract": "The characterization of mucins is critically important for gaining insights into the molecular pathology of diseases, including cancers, as well as for the discovery of biomarkers for disease diagnosis. However, no practical method has yet been reported for identifying mucin proteins. Here, we report a technique for immunological identification of mucins separated by supported molecular matrix electrophoresis (SMME), a recently developed membrane electrophoresis method. The technique involves on-membrane deglycosylation of mucins by using mild periodate oxidation/base-catalyzed elimination, followed by immunostaining with an antibody that specifically recognizes the mucin tandem repeat (TR) peptide. We demonstrated the method's feasibility by using MUC1 derived from 2 cancer cell lines, T47D and HPAF-II. The present method shows potential as an alternative approach for the identification of mucins separated by SMME or blotted from conventional gel electrophoresis, on a PVDF membrane.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23770070"
+},
{
"id": "pmid:23652307",
"manubot_success": true,
@@ -140235,38 +142444,27 @@
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22492559"
},
{
- "id": "pmid:42058219",
+ "id": "pmid:42177789",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42058219",
- "title": "Immunological characterization of neuronal intranuclear inclusion disease with kidney injury: an exploratory analysis in a multi-center cohort.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42177789",
+ "title": "Re-evaluating archival specimens as a pathologic diagnostic resource for neuronal intranuclear inclusion disease.",
"type": "article-journal",
- "doi": "10.3389/fimmu.2026.1797076",
+ "doi": "10.1093/ajcp/aqag041",
"authors": [
- ["Ying", "Ji"],
- ["Xiaowen", "Li"],
- ["Jin", "Tian"],
- ["Xian", "Chen"],
- ["Guang", "Ji"],
- ["Maofeng", "Shi"],
- ["Jing", "Zhang"],
- ["Man", "Xia"],
- ["Qianru", "An"],
- ["Xiang", "Li"],
- ["Liangyu", "Li"],
- ["Wenjing", "Song"],
- ["Ruixue", "Zhang"],
- ["Lei", "Bao"],
- ["Yuqiao", "Wang"],
- ["Yingying", "Cui"],
- ["Yuyao", "Tian"],
- ["Hao", "Chen"]
+ ["Yangye", "Lian"],
+ ["Shaoping", "Zhong"],
+ ["Jingzhen", "Liang"],
+ ["Ke", "Xu"],
+ ["Xin", "Wang"],
+ ["Yuan", "Ji"],
+ ["Jing", "Ding"]
],
- "publisher": "Frontiers in immunology",
- "issn": "1664-3224",
- "date": "2026-04-14",
- "abstract": "Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by GGC repeat expansions in NOTCH2NLC, leading to uN2CpolyG protein deposition. Although immune-mediated renal lesions have been described in NIID, the systemic immunoinflammatory profile associated with kidney injury and its relationship with genetic burden remain undefined. This study investigated peripheral immune alterations in NIID-related nephropathy and their correlation with repeat expansion size.",
+ "publisher": "American journal of clinical pathology",
+ "issn": "1943-7722",
+ "date": "2026-05-05",
+ "abstract": "Neuronal intranuclear inclusion disease (NIID) is a multisystem neurodegenerative disorder caused by GGC repeat expansions in the NOTCH2NLC gene. Although genetic testing has improved diagnostic efficiency, histopathologic confirmation remains essential. We investigated whether routine archival surgical specimens could serve as an alternative pathologic resource for NIID diagnosis.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42058219"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42177789"
},
{
"id": "pmid:42033810",
@@ -140331,26 +142529,30 @@
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42015293"
},
{
- "id": "pmid:42005169",
+ "id": "pmid:42001002",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42005169",
- "title": "Adult-Onset Neuronal Intranuclear Inclusion Disease Initially Manifesting as Bladder Dysfunction: A Case Report.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42001002",
+ "title": "Subclinical peripheral nerve demyelination without overt symptoms in a family with neuronal intranuclear inclusion disease harboring biallelic repeat expansions.",
"type": "article-journal",
- "doi": "10.7759/cureus.105488",
+ "doi": "10.1186/s12883-026-04898-2",
"authors": [
- ["Anna", "Yamaki"],
- ["Hirofumi", "Sekino"],
- ["Satoshi", "Kawana"],
- ["Ryo", "Yamakuni"],
- ["Shiro", "Ishii"],
- ["Hiroshi", "Ito"]
+ ["Hang", "Zhang"],
+ ["Taiqi", "Zhao"],
+ ["Honglin", "Zheng"],
+ ["Suying", "Duan"],
+ ["Chenyang", "Liu"],
+ ["Yaochong", "Zhang"],
+ ["Qiang", "Li"],
+ ["Han", "Liu"],
+ ["Haiyang", "Luo"],
+ ["Yuming", "Xu"]
],
- "publisher": "Cureus",
- "issn": "2168-8184",
- "date": "2026-03-19",
- "abstract": "Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by eosinophilic intranuclear inclusions and diverse clinical manifestations. In adults, NIID typically manifests as cognitive impairment, while autonomic dysfunction, such as bladder issues, is uncommon as an initial manifestation. We present a case of adult-onset NIID where bladder dysfunction preceded cognitive impairment by several years. A woman in her sixties experienced progressive urinary incontinence and voiding difficulties, necessitating intermittent self-catheterization. Early brain magnetic resonance imaging (MRI) revealed ribbonlike hyperintensity at the frontal corticomedullary junction on diffusion-weighted imaging, along with multifocal white matter lesions. However, no cognitive impairment was evident at that time. Subsequent cognitive decline progressed gradually. Further evaluation, including skin biopsy, showed ubiquitin-positive intranuclear inclusions, and genetic testing identified an abnormal guanine-guanine-cytosine (GGC) repeat expansion in the NOTCH2NLC gene, confirming the diagnosis of NIID. This case highlights that bladder dysfunction could precede cognitive impairment by years in adult-onset NIID. NIID should be considered in unexplained bladder dysfunction cases, particularly with suggestive MRI findings. Early recognition and minimally invasive skin biopsies can aid in prompt diagnosis.",
+ "publisher": "BMC neurology",
+ "issn": "1471-2377",
+ "date": "2026-04-18",
+ "abstract": "Neuronal intranuclear inclusion disease (NIID) is a rare, progressive neurodegenerative disorder caused by abnormal GGC repeat expansions in the",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42005169"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42001002"
},
{
"id": "pmid:41964975",
@@ -140374,50 +142576,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41964975"
},
-{
- "id": "pmid:41942455",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41942455",
- "title": "ASO therapy rescues NOTCH2NLC GGC repeat expansion-induced genomic damage, 3D chromatin structural abnormalities, and senescence.",
- "type": "article-journal",
- "doi": "10.1038/s41467-026-71516-7",
- "authors": [
- ["Mengjie", "Li"],
- ["Mibo", "Tang"],
- ["Xiaoyan", "Hao"],
- ["Zhengwei", "Hu"],
- ["Dongrui", "Ma"],
- ["Shuangjie", "Li"],
- ["Chunyan", "Zuo"],
- ["Zhiyun", "Wang"],
- ["Yuanyuan", "Liang"],
- ["Yanmei", "Feng"],
- ["Chenwei", "Hao"],
- ["Chen", "Wang"],
- ["Huanyu", "Li"],
- ["Yalan", "Yang"],
- ["Yuemeng", "Sun"],
- ["Shasha", "Qi"],
- ["Chengyuan", "Mao"],
- ["Yuming", "Xu"],
- ["Qun", "Wang"],
- ["De", "Yang"],
- ["Ruwei", "Yang"],
- ["Ziyao", "Zhou"],
- ["Peilin", "Ji"],
- ["Song", "Tan"],
- ["Zaiqiang", "Zhang"],
- ["Hao", "Chen"],
- ["Albert R", "La Spada"],
- ["Changhe", "Shi"]
- ],
- "publisher": "Nature communications",
- "issn": "2041-1723",
- "date": "2026-04-07",
- "abstract": "Neuronal intranuclear inclusion disease is caused by abnormal GGC repeat expansion in the NOTCH2NLC gene, though its pathogenic mechanism remains incompletely understood. This study shows that the abnormally expanded polyG-uN2C protein, encoded by the repeat sequence, contains intrinsically disordered regions and forms aggregates, leading to mislocalization of nucleophosmin and downregulation of fibrillarin. PolyG aggregates interact with nucleophosmin and rRNA, disrupting ribosomal homeostasis. Furthermore, polyG facilitates the downregulation of chromatin structural proteins CTCF and RAD21, thereby impairing chromatin organization. This pathological manifestation can be mitigated by restoring CTCF/RAD21 expression. Furthermore, in brain organoids derived from neuronal intranuclear inclusion disease patients, we observe nucleolar stress accompanied by genome-wide chromatin structural alterations. These changes correlate with increased DNA damage and cellular senescence phenotypes. Notably, antisense oligonucleotides targeting GGC effectively reduce polyG aggregation and ameliorate related molecular defects, ultimately alleviating senescence-associated phenotypes. These findings establish key mechanisms underlying neuronal intranuclear inclusion disease pathogenesis and provide proof-of-concept for targeted therapy.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41942455"
-},
{
"id": "pmid:41882342",
"manubot_success": true,
@@ -143792,6 +145950,35 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39176128"
},
+{
+ "id": "pmid:42157275",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42157275",
+ "title": "The genetic and clinical characteristics of oculopharyngeal muscular dystrophy patients in Israel.",
+ "type": "article-journal",
+ "doi": "10.1186/s13023-026-04313-6",
+ "authors": [
+ ["Merav", "Ben-David"],
+ ["Lior", "Greenbaum"],
+ ["Vera", "Nikitn"],
+ ["Alex", "Zvulunov"],
+ ["Hagit", "Charas"],
+ ["Naama", "Divon"],
+ ["Tali", "Barkan"],
+ ["Odelia", "Chorin"],
+ ["Haike", "Reznik-Wolf"],
+ ["Ofira", "Zloto"],
+ ["Limor", "Benyamini"],
+ ["Shahar", "Shelly"],
+ ["Amir", "Dori"]
+ ],
+ "publisher": "Orphanet journal of rare diseases",
+ "issn": "1750-1172",
+ "date": "2026-05-19",
+ "abstract": "Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant myopathy, caused by a (GCN)n/polyalanine repeat expansion in the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42157275"
+},
{
"id": "pmid:41764774",
"manubot_success": true,
@@ -146317,6 +148504,32 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12036482"
},
+{
+ "id": "pmid:42105155",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42105155",
+ "title": "Abnormal Amyloidogenesis Identified in Plasma of Patients with Spinocerebellar Ataxia Type 12.",
+ "type": "article-journal",
+ "doi": "10.1007/s12311-026-02015-0",
+ "authors": [
+ ["Rebecca", "Banerjee"],
+ ["Swarnava", "Sengupta"],
+ ["Jyoti", "Rungta"],
+ ["Sabbir", "Ansari"],
+ ["Sattwika", "Banerjee"],
+ ["Bishmita", "Biswas"],
+ ["Rakhi", "Pal"],
+ ["Sumantra", "Chattarji"],
+ ["Supriyo", "Choudhury"],
+ ["Hrishikesh", "Kumar"]
+ ],
+ "publisher": "Cerebellum (London, England)",
+ "issn": "1473-4230",
+ "date": "2026-05-09",
+ "abstract": "Spinocerebellar ataxia type 12 (SCA12), a progressive neurological disorder, is the second-most common autosomal dominant ataxia in India. The disease is clinically heterogeneous with a variable age-of-onset. A CAG repeat expansion mutation upstream of PPP2R2B gene is causal to SCA12 motor and non-motor symptoms but its pathophysiological significance remains unknown. PPP2R2B encodes for the regulatory subunit B of the protein phosphatase 2\u00a0A (PP2A), a major regulator of amyloid beta (A\u03b2) and tau proteins. We aimed to determine whether PPP2R2B mutation leads to A\u03b2 and tau dysregulation in SCA12. Plasma A\u03b242/A\u03b240 ratio, a core biomarker for A\u03b2 toxicity and cognitive impairment was further investigated. This cross-sectional study included 27 genetically confirmed SCA12 patients and 24 healthy controls. The patients were subjected to ICARS and MoCA clinical scales for disease severity and cognition respectively. Plasma levels for A\u03b242, A\u03b240, total tau (t-tau) and phosphorylated tau (p-tau) levels were estimated spectrophotometrically using validated ELISA kits. A significant decrease in the plasma A\u03b240 level (p\u2009=\u20090.014) and an increase in the A\u03b242/A\u03b240 ratio (p\u2009=\u20090.007) was observed in SCA12. Total tau and p-tau levels were unchanged. No significant correlation of the plasma A\u03b2 and tau proteins with clinical parameters was obtained. In SCA12, we identified an altered plasma A\u03b2 profile indicative of abnormal peripheral amyloidogenesis. Plasma A\u03b2 and tau concentrations were not correlated with the patients' cognitive status. The dynamic ratiometric A\u03b242/A\u03b240 shift in plasma is a forerunner of A\u03b2 neurotoxicity and opens novel avenues for A\u03b2-targeted therapy in SCA12.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42105155"
+},
{
"id": "pmid:41788301",
"manubot_success": true,
@@ -147470,38 +149683,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31483537"
},
-{
- "id": "pmid:41964406",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41964406",
- "title": "Homozygous RFC1 AAGGG Repeat Expansions Are Common in Idiopathic Peripheral Neuropathy.",
- "type": "article-journal",
- "doi": "10.1002/ana.78226",
- "authors": [
- ["Zitian", "Tang"],
- ["Sinem S", "Ovunc"],
- ["Ryo", "Iwase"],
- ["Elle", "Mehinovic"],
- ["Simone", "Thomas"],
- ["Jenna", "Ulibarri"],
- ["Zefan", "Li"],
- ["Dustin", "Baldridge"],
- ["Carlos", "Cruchaga"],
- ["Menghan", "Liu"],
- ["Matt", "Johnson"],
- ["Jeffrey", "Milbrandt"],
- ["Brian", "Callaghan"],
- ["Ahmet", "H\u00f6ke"],
- ["Peter K", "Todd"],
- ["Sheng Chih", "Jin"]
- ],
- "publisher": "Annals of neurology",
- "issn": "1531-8249",
- "date": "2026-04-11",
- "abstract": "Biallelic intronic AAGGG repeat expansions in RFC1 cause cerebellar ataxia with neuropathy and vestibular areflexia syndrome and may also contribute to isolated sensory neuropathy. The clinical significance of both heterozygous and homozygous (biallelic) RFC1 expansions in more diverse patient populations remains unclear-partly due to the absence of accurate, user-friendly computational pipelines specifically tailored for tandem repeat analysis.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41964406"
-},
{
"id": "pmid:41840142",
"manubot_success": true,
@@ -150447,6 +152628,31 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24686188"
},
+{
+ "id": "pmid:22086855",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/22086855",
+ "title": "Association of aberrations in one-carbon metabolism with molecular phenotype and grade of breast cancer.",
+ "type": "article-journal",
+ "doi": "10.1002/mc.21830",
+ "authors": [
+ ["Shaik Mohammad", "Naushad"],
+ ["Addepalli", "Pavani"],
+ ["Yedluri", "Rupasree"],
+ ["Shree", "Divyya"],
+ ["Sripurna", "Deepti"],
+ ["Raghunadha Rao", "Digumarti"],
+ ["Suryanarayana Raju", "Gottumukkala"],
+ ["Aruna", "Prayaga"],
+ ["Vijay Kumar", "Kutala"]
+ ],
+ "publisher": "Molecular carcinogenesis",
+ "issn": "1098-2744",
+ "date": "2011-11-15",
+ "abstract": "We have earlier demonstrated the role of aberrant one-carbon metabolism in the etiology of breast cancer. In the current study, we examine the clinical utility of these factors in predicting the subtype of breast cancer and as indicators of disease progression. Polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) and PCR-amplified fragment length polymorphism (AFLP) approaches were used for genetic analysis. Plasma folate and homocysteine were measured using Axsym folate kit and reverse phase HPLC, respectively. Multiple linear regression models were used to test the predictability of disease progression. Luminal A subtype was associated with late age of onset, higher body mass index and lack of family history of breast cancer. Thymidylate synthase (TYMS) 5'-UTR 28 bp tandem repeat (OR: 2.09, 95% CI: 1.05-4.16) and methylene tetrahydrofolate reductase (MTHFR) C677T (OR: 4.10, 95% CI: 1.40-11.95) were strongly associated with Luminal B. Reduced folate carrier (RFC1) G80A (OR: 2.92, 95% CI: 1.22-6.97) and methionine synthase (MTR) A2756G (OR: 4.71, 95% CI: 1.66-13.31) polymorphisms were associated with LuminA-HH subtype while MTHFR C677T showed association with HER-enriched (OR: 30.41, 95% CI: 6.47-142.91). Cytosolic serine hydroxymethyltransferase (cSHMT) conferred protection against basal-like breast cancer (OR: 0.47, 95% CI: 0.22-0.98). HER-enriched and basal-like subtypes showed positive association with familial breast cancer and inverse association with plasma folate. Hyperhomocysteinemia was observed in Luminal B and basal-like subtypes. Multiple linear regression models of aberrant one-carbon metabolism were found to be moderate predictors of breast cancer grade (area under the receiver operating characteristic curve, C = 0.72, 95% CI: 0.58-0.87, P = 0.008). To conclude, aberrations in one-carbon metabolism predict the subtype of breast cancer and disease progression.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22086855"
+},
{
"id": "pmid:15457444",
"manubot_success": true,
@@ -151352,7 +153558,7 @@
"id": "pmid:35868859",
"manubot_success": true,
"link": "https://www.ncbi.nlm.nih.gov/pubmed/35868859",
- "title": "Variation in TAF1 expression in female carrier induced pluripotent stem cells and human brain ontogeny has implications for adult neostriatum vulnerability in X-linked Dystonia Parkinsonism.",
+ "title": "Variation in TAF1 Expression in Female Carrier-Induced Pluripotent Stem Cells and Human Brain Ontogeny Has Implications for Adult Neostriatum Vulnerability in X-Linked Dystonia Parkinsonism.",
"type": "article-journal",
"doi": "10.1523/eneuro.0129-22.2022",
"authors": [
@@ -151375,8 +153581,8 @@
],
"publisher": "eNeuro",
"issn": "2373-2822",
- "date": "2022-07-21",
- "abstract": "X-linked Dystonia-Parkinsonism (XDP) is an inherited, X-linked, adult-onset movement disorder characterized by degeneration in the neostriatum. No therapeutics alter disease progression. The mechanisms underlying regional differences in degeneration and adult onset are unknown. Developing therapeutics requires a deeper understanding of how XDP-relevant features vary in health and disease. XDP is possibly due, in part, to a partial loss of",
+ "date": "2022-08-30",
+ "abstract": "X-linked dystonia-parkinsonism (XDP) is an inherited, X-linked, adult-onset movement disorder characterized by degeneration in the neostriatum. No therapeutics alter disease progression. The mechanisms underlying regional differences in degeneration and adult onset are unknown. Developing therapeutics requires a deeper understanding of how XDP-relevant features vary in health and disease. XDP is possibly due, in part, to a partial loss of",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35868859"
},
@@ -152980,6 +155186,31 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10440825"
},
+{
+ "id": "pmid:42180433",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42180433",
+ "title": "Targeted sequencing with single-molecule molecular inversion probes highlights a gap in understanding the cause of Fuchs endothelial corneal dystrophy.",
+ "type": "article-journal",
+ "doi": "",
+ "authors": [
+ ["Bushra", "Alayed"],
+ ["Danah", "Albuainain"],
+ ["Salina", "Siddiqui"],
+ ["Weijia", "Li"],
+ ["Ummey", "Hany"],
+ ["Seema", "Anand"],
+ ["Chris F", "Inglehearn"],
+ ["Christopher M", "Watson"],
+ ["Manir", "Ali"]
+ ],
+ "publisher": "Molecular vision",
+ "issn": "1090-0535",
+ "date": "2025-12-01",
+ "abstract": "A trinucleotide repeat expansion in",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42180433"
+},
{
"id": "pmid:42010886",
"manubot_success": true,
@@ -154783,6 +157014,94 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15368101"
},
+{
+ "id": "pmid:42083296",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42083296",
+ "title": "Genome Sequencing for the Diagnosis of Rare Disorders: The Brazilian Rare Genomes Project.",
+ "type": "article-journal",
+ "doi": "10.1016/j.xhgg.2026.100624",
+ "authors": [
+ ["Antonio Victor", "Campos Coelho"],
+ ["Rafael", "Sales de Albuquerque"],
+ ["Catarina Dos Santos", "Gomes"],
+ ["Jos\u00e9", "Bandeira do Nascimento Junior"],
+ ["Gustavo", "Santos de Oliveira"],
+ ["Livia Maria", "Silva Moura"],
+ ["Luciana Souto", "Mofatto"],
+ ["Rafael Lucas", "Muniz Guedes"],
+ ["Rodrigo Ara\u00fajo", "Sequeira Barreiro"],
+ ["Marcel Pinheiro", "Caraciolo"],
+ ["Ana", "Paula de Andrade Oliveira"],
+ ["Anne Caroline", "Barbosa Teixeira"],
+ ["Bruna Mascaro", "Cordeiro de Azevedo"],
+ ["Carolina Dias", "Carlos"],
+ ["Lucas", "Santos de Santana"],
+ ["Marina", "Cadena da Matta"],
+ ["Matheus Martinelli", "Lima"],
+ ["Nuria Bengala", "Zurro"],
+ ["Renata Yoshiko", "Yamada"],
+ ["Vivian Pedigone", "Cintra"],
+ ["Gabriela Pereira", "Campilongo"],
+ ["Gabriela Borges", "Cherulli Colichio"],
+ ["Renata Martins", "Ribeiro da Silva"],
+ ["Caio Robledo", "D'Angioli Costa Quaio"],
+ ["Carolina Araujo", "Moreno"],
+ ["Eduardo", "Perrone"],
+ ["J\u00e9ssica Grasiela", "Ara\u00fajo Espolaor"],
+ ["Joana Rosa", "Marques Prota"],
+ ["Jos\u00e9 Ricardo", "Magliocco Ceroni"],
+ ["Kelin", "Chen"],
+ ["Luiza do Amaral", "Virmond"],
+ ["Marina", "de Fran\u00e7a Basto Silva"],
+ ["Michele Patricia", "Migliavacca"],
+ ["Renata Moldenhauer", "Minillo"],
+ ["Thiago Yoshinaga", "Tonholo Silva"],
+ ["Karla", "de Oliveira Pelegrino"],
+ ["Ana Luiza", "Garcia Cunha"],
+ ["Joziele", "de Souza Lima"],
+ ["Anete Sevciovic", "Grumach"],
+ ["Caio Parente", "Barbosa"],
+ ["Angelina Xavier", "Acosta"],
+ ["Paula Brito", "Corr\u00eaa"],
+ ["Denise Pontes", "Cavalcanti"],
+ ["Carlos Eduardo", "Steiner"],
+ ["Erlane Marques", "Ribeiro"],
+ ["Wallace", "William da Silva Meireles"],
+ ["Giselle Maria", "Araujo Felix Adjuto"],
+ ["Ida Vanessa", "Doederlein Schwartz"],
+ ["T\u00eamis Maria", "Felix"],
+ ["Irma Cecilia", "Douglas Paes Barreto"],
+ ["Antonette", "Souto El Husny"],
+ ["Jussara", "Melo de Cerqueira Maia"],
+ ["Vera Maria", "Dantas"],
+ ["L\u00facia", "Helena de Oliveira Cordeiro"],
+ ["Luiza Zagne", "Braz"],
+ ["Magda Maria", "Sales Carneiro Sampaio"],
+ ["Mara Lucia", "Schmitz Ferreira Santos"],
+ ["Marco Antonio", "Curiati"],
+ ["Maria", "Teresinha de Oliveira Cardoso"],
+ ["Maria Teresa", "Alves da Silva Rosa"],
+ ["Mariana Paes", "Leme Ferriani"],
+ ["Ester Silveira", "Ramos"],
+ ["Paula Teixeira", "Lyra"],
+ ["Raquel Tavares", "Boy da Silva"],
+ ["Anna C\u00e2ndida", "Ximenes de Mendon\u00e7a Sobreira"],
+ ["Tatiana Regia", "Suzana Amorim Boa Sorte"],
+ ["Melissa Rossi", "Calv\u00e3o Dumas"],
+ ["Tha\u00eds Bomfim", "Teixeira"],
+ ["Vandr\u00e9 Cabral", "Gomes Carneiro"],
+ ["Patr\u00edcia Silva", "Mota"],
+ ["Tatiana", "Ferreira de Almeida"],
+ ["Jo\u00e3o Bosco", "Oliveira"]
+ ],
+ "publisher": "HGG advances",
+ "issn": "2666-2477",
+ "date": "2026-05-04",
+ "abstract": "Genome Sequencing (GS) has emerged as a transformative tool in the diagnosis of rare diseases with complex phenotypes. This technology uncovers structural, intronic, non-coding, and mitochondrial variants that traditional methods might miss, thus facilitating the understanding of the underlying genomic basis of human disorders. We enrolled 10305 patients with suspected rare diseases or hereditary cancer risk syndromes from 21 centers throughout Brazil. Their genomes were sequenced with short, paired-end reads, and diagnostic reports were provided for 9448 of these patients. The overall diagnostic yield was 35.6%, and 4.6% of all positive reports had GS-exclusive findings (e.g. short copy number variants overlapping fewer than three exons, deep intronic variants, short tandem repeats expansions, mitochondrial structural variants - usually not detected by other diagnostic tests such as exome sequencing). Preliminary analysis of transcriptome sequencing (TS) or long-read GS combined with the GS interpretation provided a small but welcome improvement in diagnostic yield (0.1% and 1.0% of positive reports, respectively). Almost 3200 variant/phenotype interpretations were submitted to ClinVar. GS is proving to be an invaluable resource for shortening the diagnostic odyssey of patients with rare diseases, providing crucial genomic diagnostics, and enriching genetic databases with variant interpretations from underrepresented populations. Therefore, GS has the potential to significantly enhance the precision of healthcare in genetically diverse populations.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42083296"
+},
{
"id": "pmid:41507280",
"manubot_success": true,
@@ -158907,21 +161226,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0014662"
},
-{
- "id": "mondo:0007403",
- "manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007403",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007403"
-},
{
"id": "mondo:0007340",
"manubot_success": true,
@@ -159012,6 +161316,252 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0005258"
},
+{
+ "id": "omim:309548",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/309548",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/309548. Skipping"
+},
+{
+ "id": "omim:309510",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/309510",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/309510. Skipping"
+},
+{
+ "id": "omim:308350",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/308350",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/308350. Skipping"
+},
+{
+ "id": "omim:300004",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/300004",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/300004. Skipping"
+},
+{
+ "id": "omim:300215",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/300215",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/300215. Skipping"
+},
+{
+ "id": "omim:183090",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/183090",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/183090. Skipping"
+},
+{
+ "id": "omim:164500",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/164500",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/164500. Skipping"
+},
+{
+ "id": "omim:608768",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/608768",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/608768. Skipping"
+},
+{
+ "id": "omim:117210",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/117210",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/117210. Skipping"
+},
+{
+ "id": "omim:105500",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/105500",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/105500. Skipping"
+},
+{
+ "id": "omim:147791",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/147791",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/147791. Skipping"
+},
+{
+ "id": "omim:609812",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/609812",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/609812. Skipping"
+},
+{
+ "id": "omim:615945",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/615945",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/615945. Skipping"
+},
+{
+ "id": "omim:136630",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/136630",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/136630. Skipping"
+},
+{
+ "id": "omim:229300",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/229300",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/229300. Skipping"
+},
+{
+ "id": "omim:618412",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/618412",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/618412. Skipping"
+},
+{
+ "id": "omim:186000",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/186000",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/186000. Skipping"
+},
+{
+ "id": "omim:164310",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/164310",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/164310. Skipping"
+},
+{
+ "id": "omim:613608",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/613608",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/613608. Skipping"
+},
+{
+ "id": "omim:609893",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/609893",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/609893. Skipping"
+},
+{
+ "id": "omim:105400",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/105400",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/105400. Skipping"
+},
+{
+ "id": "omim:614153",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/614153",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/614153. Skipping"
+},
+{
+ "id": "omim:603472",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/603472",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/603472. Skipping"
+},
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+ "manubot_success": false,
+ "link": "https://omim.org/entry/618637",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/618637. Skipping"
+},
+{
+ "id": "omim:164300",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/164300",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/164300. Skipping"
+},
+{
+ "id": "omim:601846",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/601846",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/601846. Skipping"
+},
+{
+ "id": "omim:258450",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/258450",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/258450. Skipping"
+},
+{
+ "id": "omim:157640",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/157640",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/157640. Skipping"
+},
+{
+ "id": "omim:604326",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/604326",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/604326. Skipping"
+},
+{
+ "id": "omim:616488",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/616488",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/616488. Skipping"
+},
+{
+ "id": "omim:601068",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/601068",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/601068. Skipping"
+},
+{
+ "id": "omim:300123",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/300123",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/300123. Skipping"
+},
+{
+ "id": "omim:607136",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/607136",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/607136. Skipping"
+},
+{
+ "id": "omim:187500",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/187500",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/187500. Skipping"
+},
+{
+ "id": "omim:613267",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/613267",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/613267. Skipping"
+},
+{
+ "id": "omim:619216",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/619216",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/619216. Skipping"
+},
+{
+ "id": "omim:600223",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/600223",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/600223. Skipping"
+},
+{
+ "id": "omim:314390",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/314390",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/314390. Skipping"
+},
+{
+ "id": "omim:616181",
+ "manubot_success": false,
+ "link": "https://omim.org/entry/616181",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/616181. Skipping"
+},
+{
+ "id": "genereviews:NBK535148",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK535148",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK535148']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1333",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1333",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1333']' timed out after 3 seconds"
+},
{
"id": "genereviews:NBK51932",
"manubot_success": true,
@@ -159030,23 +161580,23 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK51932"
},
+{
+ "id": "genereviews:NBK1491",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1491",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1491']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1184",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1184",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1184']' timed out after 3 seconds"
+},
{
"id": "genereviews:NBK1175",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1175/",
- "title": "Spinocerebellar Ataxia Type 10",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Tohru", "Matsuura"],
- ["Tetsuo", "Ashizawa"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Spinocerebellar ataxia type 10 (SCA10) is characterized by slowly progressive cerebellar ataxia that usually starts as poor balance and unsteady gait, followed by upper-limb ataxia, scanning dysarthria, and dysphagia. Abnormal tracking eye movements are common. Recurrent seizures after the onset of gait ataxia have been reported with variable frequencies among different families. Some individuals have cognitive dysfunction, behavioral disturbances, mood disorders, mild pyramidal signs, and peripheral neuropathy. Age of onset ranges from 12 to 48 years., Diagnosis of SCA10 is established in a proband by identification of a heterozygous ATTCT pentanucleotide-repeat expansion in ATXN10. Affected individuals have expanded alleles with up to 4,500 ATTCT pentanucleotide repeats; intermediate alleles (280 to 850 repeats) may show reduced penetrance., Treatment of manifestations: Treatment is primarily focused on control of seizures, as uncontrolled seizures may lead to potentially fatal status epilepticus. Conventional anticonvulsants such as levetiracetam, phenytoin, carbamazepine, and valproic acid achieve reasonable control, although occasional breakthrough seizures may occur. Treatment measures for ataxia: canes / walkers / mobilized chairs; standard home modifications; exercise and physical therapy; and weight control to avoid difficulty with ambulation and mobility. For dysphagia: percutaneous placement of a gastrostomy tube for both prevention of aspiration and maintenance of nutritional intake; vitamin supplementation. For dysarthria: speech therapy and speech/communication assistive devices. Weighted utensils and dressing hooks for upper-limb coordination issues. Mild tranquilizers may be helpful for those with anxiety. Surveillance: Clinical neurology evaluation every four to six months; video esophagrams to evaluate those with dysphagia. Agents/circumstances to avoid: Alcohol and drugs that are known to adversely affect cerebellar functions; falls, which may compromise motor function; activities that are potentially dangerous to individuals with ataxia or epilepsy., SCA10 is inherited in an autosomal dominant manner. Offspring of an affected individual have a 50% chance of inheriting the repeat expansion. The risk of developing the SCA10 phenotype in individuals with expanded alleles in the intermediate range (280-850) is uncertain because of the apparently reduced penetrance. Anticipation has been observed in some families with paternal (but not maternal) transmission of the pentanucleotide repeat expansion. Prenatal testing for pregnancies at increased risk is possible if the diagnosis has been established by molecular genetic testing in an affected family member.",
- "language": "eng",
- "note": "PMID: 20301354\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1175"
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1175",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1175']' timed out after 3 seconds"
},
{
"id": "genereviews:NBK1275",
@@ -159065,6 +161615,12 @@
"language": "eng",
"note": "PMID: 20301452\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1275"
},
+{
+ "id": "genereviews:NBK1196",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1196",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1196']' timed out after 3 seconds"
+},
{
"id": "genereviews:NBK557816",
"manubot_success": true,
@@ -159086,20 +161642,48 @@
},
{
"id": "genereviews:NBK1256",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1256",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1256']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1268",
"manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1256/",
- "title": "Spinocerebellar Ataxia Type 7",
+ "link": "http://www.ncbi.nlm.nih.gov/books/NBK1268/",
+ "title": "Spinocerebellar Ataxia Type 8",
"type": "chapter",
"doi": "",
"authors": [
- ["Albert R.", "La Spada"]
+ ["John Douglas", "Cleary"],
+ ["S. H.", "Subramony"],
+ ["Laura PW", "Ranum"]
],
"publisher": "GeneReviews\u00ae",
"issn": "",
"date": "1993-01-01",
- "abstract": "Spinocerebellar ataxia type 7 (SCA7) comprises a phenotypic spectrum ranging from adolescent- or adult-onset progressive cerebellar ataxia and cone-rod retinal dystrophy to infantile or early-childhood onset with multiorgan failure, an accelerated course, and early death. Anticipation in this nucleotide repeat disorder may be so dramatic that within a family a child with infantile or early-childhood onset may be diagnosed with what is thought to be an unrelated neurodegenerative disorder years before a parent or grandparent with a CAG repeat expansion becomes symptomatic. In adolescent-onset SCA7, the initial manifestation is typically impaired vision, followed by cerebellar ataxia. In those with adult onset, progressive cerebellar ataxia usually precedes the onset of visual manifestations. While the rate of progression varies in these two age groups, the eventual result for almost all affected individuals is loss of vision, severe dysarthria and dysphagia, and a bedridden state with loss of motor control., The diagnosis of SCA7 is established in a proband by the identification of a heterozygous abnormal CAG trinucleotide repeat expansion in ATXN7 by molecular genetic testing., Treatment of manifestations: Multidisciplinary care involves supportive treatment of: neurologic manifestations \u2013 physical and occupational therapy to help maintain mobility and function, and pharmacologic treatment to reduce symptoms; dysarthria \u2013 speech and language therapy and alternative communication methods; dysphagia \u2013 feeding therapy to improve nutrition and reduce the risk of aspiration; and reduced vision \u2013 use of low vision aids and consultation with agencies for the visually impaired. Surveillance: Routine follow up with multidisciplinary care providers. Agents/circumstances to avoid: Avoid: alcohol intake (especially if excessive) as it can further impair cerebellar function; foods identified by a registered dietitian as possible causes of dizziness or disorientation. Therapies under investigation: Several ongoing clinical trials for medications used as treatment for ataxia., SCA7 is inherited in an autosomal dominant manner. Offspring of an affected individual have a 50% chance of inheriting an abnormal CAG repeat expansion in ATXN7. Once an ATXN7 CAG repeat expansion has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing for SCA7 are possible.",
+ "abstract": "SCA8 is a slowly progressive ataxia with onset typically in the third to fifth decade but with a range from before age one year to after age 60 years. Common initial manifestations are scanning dysarthria with a characteristic drawn-out slowness of speech and gait instability. Over the disease course other findings can include eye movement abnormalities (nystagmus, abnormal pursuit and abnormal saccades, and, rarely, ophthalmoplegia); upper motor neuron involvement; extrapyramidal signs; brain stem signs (dysphagia and poor cough reflex); sensory neuropathy; and cognitive impairment (e.g., executive dysfunction, psychomotor slowing and other features of cerebellar cognitive-affective disorder in some). Life span is typically not shortened., The diagnosis of SCA8 is established in a proband with suggestive findings and a heterozygous abnormal (CTG\u00b7CAG)n repeat expansion in the two overlapping genes ATXN8OS/ATXN8 identified by molecular genetic testing., Treatment of manifestations: Canes and walkers to help prevent falls; modification of the home (e.g., grab bars, raised toilet seats, ramps for motorized chairs) as needed; speech therapy and communication devices for those with dysarthria; weighted eating utensils and dressing hooks to maintain some independence; feeding evaluations to reduce risk of aspiration from dysphagia; physical activity to maintain muscular and cardiopulmonary conditioning. Surveillance: Routine follow up by the multidisciplinary care team including neurology to assess disease progression; physiatry and occupational and physical therapy to assess mobility and self-help skills; speech and language specialists to assess need for alternative communication method or speech therapy; feeding team to assess nutrition, aspiration risk, and feeding methods; and mental health professionals. Agents/circumstances to avoid: Alcohol can exacerbate incoordination., SCA8 is inherited in an autosomal dominant manner with reduced penetrance. To date, all individuals diagnosed with SCA8 whose parents have been evaluated with molecular genetic testing have one parent with an ATXN8OS/ATXN8 (CTG\u00b7CAG)n repeat expansion. The transmitting parent may or may not have clinical manifestations of SCA8. If a parent of the proband is known to have a (CTG\u00b7CAG)n repeat expansion, the risk to each sib of inheriting the repeat expansion is 50%. The (CTG\u00b7CAG)n repeat expansion is highly unstable and almost always changes in size on transmission: the repeat expansion is more likely to become larger when maternally transmitted and more likely to contract with paternal transmission. Sibs who inherit a (CTG\u00b7CAG)n repeat expansion may or may not develop clinical manifestations of SCA8. Once an SCA8 (CTG\u00b7CAG)n repeat expansion has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible.",
"language": "eng",
- "note": "PMID: 20301433\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1256"
+ "note": "PMID: 20301445\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1268"
+},
+{
+ "id": "genereviews:NBK268647",
+ "manubot_success": true,
+ "link": "http://www.ncbi.nlm.nih.gov/books/NBK268647/",
+ "title": "C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis",
+ "type": "chapter",
+ "doi": "",
+ "authors": [
+ ["Helena", "Gossye"],
+ ["Sebastiaan", "Engelborghs"],
+ ["Christine", "Van Broeckhoven"],
+ ["Julie", "Zee"]
+ ],
+ "publisher": "GeneReviews\u00ae",
+ "issn": "",
+ "date": "1993-01-01",
+ "abstract": "C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis (C9orf72-FTD/ALS) is characterized most often by frontotemporal dementia (FTD) and upper and lower motor neuron disease (MND); however, atypical presentations also occur. Age at onset is usually between 50 and 64 years (range: 20-91 years) irrespective of the presenting manifestations, which may be pure FTD, pure amyotrophic lateral sclerosis (ALS), or a combination of the two phenotypes. The clinical presentation is highly heterogeneous and may differ between and within families, causing an unpredictable pattern and age of onset of clinical manifestations. The presence of MND correlates with an earlier age of onset and a worse overall prognosis., The diagnosis of C9orf72-FTD/ALS is established in a proband with suggestive findings and a heterozygous abnormal G4C2 (GGGGCC) hexanucleotide repeat expansion in C9orf72 identified by molecular genetic testing., Treatment of manifestations: Care is often provided by a multidisciplinary team that includes a neurologist, specially trained nurses, pulmonologist, speech therapist, physical therapist, occupational therapist, respiratory therapist, nutritionist, psychologist, social worker, and genetic counselor. Surveillance: Routine follow up by multidisciplinary specialists to monitor neurologic findings, mobility and activities of daily living, psychiatric/behavioral manifestations, nutrition and safety of oral feeding, respiratory and bladder function, and needs of affected individuals and care providers for psychosocial support., C9orf72-FTD/ALS is inherited in an autosomal dominant manner. Almost all individuals diagnosed with C9orf72-FTD/ALS inherited a C9orf72 G4C2 repeat expansion from a heterozygous parent. In most families the heterozygous parent is affected; however, a heterozygous parent may not have clinical manifestations of the disorder due to age-dependent reduced penetrance. Each child of an individual with C9orf72-FTD/ALS has a 50% chance of inheriting the C9orf72 G4C2 repeat expansion. Once a C9orf72 G4C2 repeat expansion has been identified in an affected family member, prenatal and preimplantation genetic testing for the presence of the C9orf72 G4C2 repeat expansion are possible. (Note: The presence of a C9orf72 G4C2 repeat expansion cannot predict the disease course in any given individual.)",
+ "language": "eng",
+ "note": "PMID: 25577942\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK268647"
},
{
"id": "genereviews:NBK1140",
@@ -159138,23 +161722,17 @@
"language": "eng",
"note": "PMID: 20301639\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1466"
},
+{
+ "id": "genereviews:NBK1123",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1123",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1123']' timed out after 3 seconds"
+},
{
"id": "genereviews:NBK1487",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1487/",
- "title": "COMP-Related Pseudoachondroplasia",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Michael D.", "Briggs"],
- ["Michael J.", "Wright"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "COMP-related pseudoachondroplasia (COMP-PSACH) is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with COMP-PSACH eventually require hip replacement surgery., The diagnosis of COMP-PSACH can be made on the basis of clinical findings and radiographic features. Identification of a heterozygous pathogenic variant in COMP on molecular genetic testing establishes the diagnosis if clinical features are inconclusive., Treatment of manifestations: Analgesics for joint pain; encourage physical activities that do not cause excessive wear and/or damage to the joints; osteotomy for lower limb malalignment; rarely, surgery for scoliosis; C1-C2 fixation for symptoms and radiographic evidence of cervical spine instability; attention to and social support for psychosocial issues related to short stature for affected individuals and their families. Surveillance: Assess growth at each visit throughout childhood. Regular examinations for evidence of symptomatic joint hypermobility and/or lower limb malalignment, kyphoscoliosis, degenerative joint disease, and neurologic manifestations, particularly spinal cord compression secondary to odontoid hypoplasia. Assess for psychosocial issues annually or at each visit. Agents/circumstances to avoid: In those with odontoid hypoplasia, extreme neck flexion and extension should be avoided., COMP-PSACH is inherited in an autosomal dominant manner. Some individuals diagnosed with COMP-PSACH have an affected parent. A proband diagnosed with COMP-PSACH may have the disorder as the result of a de novo pathogenic variant. Each child of an individual with COMP-PSACH and a reproductive partner with normal bone growth has a 50% chance of inheriting the COMP pathogenic variant and having COMP-PSACH. Because many individuals with short stature select reproductive partners with short stature, offspring of individuals with COMP-PSACH may be at risk of having double heterozygosity for two dominantly inherited bone growth disorders. Once the COMP pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 20301660\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1487"
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1487",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1487']' timed out after 3 seconds"
},
{
"id": "genereviews:NBK1142",
@@ -159174,6 +161752,36 @@
"language": "eng",
"note": "PMID: 20301321\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1142"
},
+{
+ "id": "genereviews:NBK541729",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK541729",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK541729']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1119",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1119",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1119']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1165",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1165",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1165']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK599589",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK599589",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK599589']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1384",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1384",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1384']' timed out after 3 seconds"
+},
{
"id": "genereviews:NBK1441",
"manubot_success": true,
@@ -159193,22 +161801,23 @@
"language": "eng",
"note": "PMID: 20301614\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1441"
},
+{
+ "id": "genereviews:NBK1281",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1281",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1281']' timed out after 3 seconds"
+},
{
"id": "genereviews:NBK1423",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1423/",
- "title": "Hand-Foot-Genital Syndrome",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Jeffrey W.", "Innis"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild-to-severe bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal, is the most common limb malformation and results in impaired dexterity or apposition of the thumbs. Urogenital malformations include abnormalities of the ureters and urethra and various degrees of incomplete m\u00fcllerian fusion in females, and hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis may occur; fertility is normal., Diagnosis is based on physical examination including radiographs of the hands and feet and imaging studies of the kidneys, bladder, and female reproductive tract. Identification of a heterozygous HOXA13 pathogenic variant can establish the diagnosis if clinical and radiographic features are inconclusive. Approximately 50%-60% of pathogenic variants are polyalanine expansions., Treatment of manifestations: Hand or foot surgery is not usually necessary. Ureteric reimplantation and surgical correction of bladder outlet abnormalities are often necessary. Surgical removal of a longitudinal vaginal septum is rarely indicated. Surgery for removal of a uterine septum or reunification of a bicornuate uterus is exceptional in the absence of recurrent mid-trimester pregnancy loss. Hymenectomy may be necessary for tight constriction ring. Prevention of secondary complications: Prophylactic antibiotics or surgery as needed to prevent urinary tract infections or other complications of ureteral reflux or ureteropelvic junction obstruction; gynecologic examination prior to menstruation for small hymenal opening; pre-pregnancy evaluation of the vaginal and uterine anatomy because of the increased risk for premature labor and fetal loss associated with structural abnormalities of the uterus. Surveillance: Follow up with a urologist in the presence of vesicoureteral reflux and/or documented urinary tract infection., Hand-foot-genital syndrome is inherited in an autosomal dominant manner. The proportion of cases caused by a de novo pathogenic variant is unknown because of the small number of individuals described. If a parent of the proband is affected, the recurrence risk to the sibs is 50%. If the proband has a known HOXA13 pathogenic variant that cannot be detected in the leukocyte DNA of either parent, the recurrence risk to sibs is slightly greater than that of the general population because of the possibility of parental germline mosaicism. Each child of an individual with HFGS has a 50% chance of inheriting the pathogenic variant. Prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible if the pathogenic variant in the family is known.",
- "language": "eng",
- "note": "PMID: 20301596\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1423"
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1423",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1423']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1305",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1305",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1305']' timed out after 3 seconds"
},
{
"id": "genereviews:NBK1529",
@@ -159231,100 +161840,57 @@
},
{
"id": "genereviews:NBK153723",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK153723/",
- "title": "Autosomal Dominant Tubulointerstitial Kidney Disease \u2013 MUC1",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Anthony J.", "Bleyer"],
- ["Martina", "\u017divn\u00e1"],
- ["Kendrah", "Kidd"],
- ["Stanislav", "Kmoch"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Autosomal dominant tubulointerstitial kidney disease \u2013 MUC1 (ADTKD-MUC1) is characterized by slowly progressive tubulointerstitial disease that leads to end-stage renal disease (ESRD) and the need for dialysis or kidney transplantation. The rate of loss of kidney function for individuals is variable within and between families, with a median age of onset of end-stage renal disease (ESRD) of 46 years (range: ages 20-70 years). There are no other systemic manifestations., The diagnosis of ADTKD-MUC1 is established in a proband with suggestive clinical findings and molecular genetic testing that reveals a heterozygous pathogenic variant in MUC1 that results in the creation of a specific frameshift protein (MUC1fs) responsible for the pathogenic changes in this disorder., Treatment of manifestations: Treatment follows standard guidelines for chronic kidney disease \u2013 based on the level of the serum creatinine and the estimated glomerular filtration rate (eGFR) \u2013 and its sequelae, which can include hypertension, anemia, and gout. Affected individuals are encouraged to prepare for kidney transplantation, the definitive treatment of ADTKD-MUC1, by staying in optimal health (e.g., by exercising, avoiding obesity and tobacco usage, and maintaining strict control of hypertension, dyslipidemia, and other cardiovascular risk factors). Kidney transplantation is curative; the outcome is excellent. Surveillance: Measurement of hemoglobin, serum concentrations of uric acid and creatinine and blood pressure annually prior to entering CKD Stage 3. Thereafter, follow up is determined by the treating nephrologist. Agents/circumstances to avoid: Affected individuals should follow general recommendations for chronic kidney disease. Pregnancy management: The use of ACE inhibitors should be avoided during pregnancy, as they can result in fetal damage and death. Women who are pregnant, planning a pregnancy, or not actively avoiding pregnancy should be transitioned to another antihypertensive medication. Allopurinol therapy should be stopped during pregnancy, if possible. Evaluation of relatives at risk: For early diagnosis and treatment: It is appropriate to identify as early as possible apparently asymptomatic at-risk adult relatives who have the familial MUC1 variant in order to monitor their serum creatinine levels and promptly initiate treatment and awareness of agents/circumstances to avoid. For kidney donation: Any relative who is a potential kidney donor should undergo molecular genetic testing to clarify the relative's genetic status so that only those who do not have the familial MUC1 pathogenic variant are evaluated further., ADTKD-MUC1 is inherited in an autosomal dominant manner. Each child of an affected individual has a 50% chance of inheriting the MUC1 pathogenic variant. Prenatal testing for MUC1 pathogenic variants is not available in the US at this time.",
- "language": "eng",
- "note": "PMID: 23946964\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK153723"
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK153723",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK153723']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1126",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1126",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1126']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1427",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1427",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1427']' timed out after 3 seconds"
},
{
"id": "genereviews:NBK1229",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1229/",
- "title": "Genetic Prion Disease",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Inga", "Zerr"],
- ["Matthias", "Schmitz"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Str\u00e4ussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome., The diagnosis of genetic prion disease is established in a proband with suggestive findings and a heterozygous PRNP pathogenic variant identified by molecular genetic testing., Treatment of manifestations: No treatment of the underlying cause of genetic prion disease is available. Supportive care by a multidisciplinary team of specialists including neurologists, psychiatrists, physical therapists, occupational therapists, speech and language therapists, and social workers is recommended. Surveillance: Because of very rapid disease progression, close periodic monitoring by the multidisciplinary team is needed, typically every 14 days to evaluate needs for symptomatic treatment., Genetic prion disease is inherited in an autosomal dominant manner. Some individuals diagnosed with genetic prion disease may have a parent who is heterozygous for a PRNP pathogenic variant (some of whom may be asymptomatic because of reduced penetrance). Other individuals with genetic prion disease may have the disorder as the result of a de novo PRNP pathogenic variant. Each child of an individual with a PRNP pathogenic variant has a 50% chance of inheriting the variant. Although predictive testing (i.e., testing of asymptomatic at-risk adults) is possible, the capabilities and limitations of predictive testing as well as possible socioeconomic and medical care issues should be discussed in the context of formal genetic counseling prior to testing. Predictive testing in minors (i.e., testing of asymptomatic at-risk individuals younger than age 18 years) is considered inappropriate.",
- "language": "eng",
- "note": "PMID: 20301407\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1229"
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1229",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1229']' timed out after 3 seconds"
},
{
"id": "genereviews:NBK564656",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK564656/",
- "title": "RFC1 CANVAS\u00a0/ Spectrum Disorder",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Andrea", "Cortese"],
- ["Mary M.", "Reilly"],
- ["Henry", "Houlden"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "The phenotypic spectrum associated with biallelic RFC1 AAGGG repeat expansion encompasses a range including (1) typical cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS); (2) cerebellar, sensory, and vestibular impairment; (3) more limited phenotypes involving predominantly or exclusively one of the systems involved in balance control; (4) autonomic dysfunction; and (5) cough. Onset begins after age 35 years. In a retrospective study of 100 affected individuals after ten years of disease duration, two thirds had clinical features of CANVAS; 16 had a complex sensory ataxia with cerebellar or vestibular involvement; and 15 had a sensory neuropathy as the only clinically detectable manifestation., The diagnosis of RFC1 CANVAS\u00a0/ spectrum disorder is established in a proband with suggestive findings and biallelic intronic AAGGG pentanucleotide expansions in RFC1 identified by molecular genetic testing that is targeted to detect these expansions. Note that pathogenic RFC1 AAGGG repeat expansions cannot be detected by sequence-based multigene panels or exome sequencing. However, they can be suspected by genome sequencing., Treatment of manifestations: The goals of treatment are to maximize function and reduce complications. Depending on the clinical manifestations, each affected individual should be managed by a multidisciplinary team of relevant specialists such as neurologists, occupational therapists, physical therapists, physiatrists, and (depending on individual needs) speech therapists, respiratory therapists, nutritionists, and gastroenterologists. Surveillance: Routine follow up by multidisciplinary specialists to assess: progression of neurologic findings; mobility, self-help skills; need for alternative communication methods; and aspiration risk and feeding methods. Agents/circumstances to avoid: Medications of known toxicity for peripheral nerves (e.g., neurotoxic chemotherapy agents, pyridoxine), the cerebellum (e.g., phenytoin), or the vestibular system (e.g., aminoglycosides); chronic alcohol consumption., RFC1 CANVAS / spectrum disorder is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for an RFC1 AAGGG repeat expansion, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once biallelic RFC1 AAGGG repeat expansions have been identified in an affected family member, carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk, and preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 33237689\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK564656"
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK564656",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK564656']' timed out after 3 seconds"
},
{
"id": "genereviews:NBK1513",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1513/",
- "title": "Cleidocranial Dysplasia Spectrum Disorder",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Keren", "Machol"],
- ["Roberto", "Mendoza-Londono"],
- ["Brendan", "Lee"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a clinical continuum ranging from classic CCD (triad of delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and dental abnormalities), to mild CCD, to isolated dental anomalies without other skeletal features. Individuals with classic CCD spectrum disorder typically have abnormally large, wide-open fontanelles at birth that may remain open throughout life. Clavicular hypoplasia can result in narrow, sloping shoulders that can be opposed at the midline. Moderate short stature may be observed, with most affected individuals being shorter than their unaffected sibs. Dental anomalies may include delayed eruption of secondary dentition, failure to shed the primary teeth, and supernumerary teeth. Individuals with CCD spectrum disorder are at increased risk of developing recurrent sinus infections, recurrent ear infections leading to conductive hearing loss, and upper airway obstruction. Intelligence is typically normal., The diagnosis of CCD spectrum disorder is established in an individual with typical clinical and radiographic findings and/or a heterozygous pathogenic variant in RUNX2 identified by molecular genetic testing., Treatment of manifestations: If the cranial vault defect is significant, the head needs protection from blunt trauma; helmets may be used for high-risk activities. Surgical cosmesis for depressed forehead or lengthening of hypoplastic clavicles can be considered. Careful planning of anesthetic management due to craniofacial and dental abnormalities. Consultation with an otolaryngologist to assist in securing the airway. Consideration of alternative anesthetic approaches, including neuraxial block, taking into account possible spine abnormalities. If bone density is below normal, treatment with calcium and vitamin D supplementation. Dental procedures to address retention of primary dentition, presence of supernumerary teeth, and non-eruption of secondary dentition. Such procedures may include prosthetic replacements, removal of the supernumerary teeth followed by surgical repositioning of the secondary teeth, and a combination of surgical and orthodontic measures for actively erupting and aligning the impacted secondary teeth. Speech therapy as needed. Aggressive treatment of sinus and middle ear infections; consideration of tympanostomy tubes for recurrent middle ear infections; regular immunizations including influenza. Sleep study in those with manifestations of obstructive sleep apnea; surgical intervention may be required for upper airway obstruction. Surveillance: Monitor children for orthopedic complications, dental abnormalities, sinus and ear infections, upper airway obstruction, hearing loss, and speech issues. DXA scan to assess bone mineral density beginning in early adolescence and every five to ten years thereafter. Agents/circumstances to avoid: Helmets and protective devices should be worn when participating in high-risk activities. Pregnancy management: Monitor affected women during pregnancy for cephalopelvic disproportion., CCD spectrum disorder is inherited in an autosomal dominant manner. The proportion of individuals with CCD spectrum disorder caused by a de novo pathogenic variant is high. Each child of an individual with CCD spectrum disorder has a 50% chance of inheriting the RUNX2 pathogenic variant. Once the RUNX2 pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing for CCD spectrum disorder are possible.",
- "language": "eng",
- "note": "PMID: 20301686\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1513"
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1513",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1513']' timed out after 3 seconds"
},
{
"id": "genereviews:NBK1438",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1438/",
- "title": "Spinocerebellar Ataxia Type 17",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Yasuko", "Toyoshima"],
- ["Osamu", "Onodera"],
- ["Mitsunori", "Yamada"],
- ["Shoji", "Tsuji"],
- ["Hitoshi", "Takahashi"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Spinocerebellar ataxia type 17 (SCA17) is characterized by ataxia, dementia, and involuntary movements, including chorea and dystonia. Psychiatric symptoms, pyramidal signs, and rigidity are common. The age of onset ranges from three to 55 years. Individuals with full-penetrance alleles develop neurologic and/or psychiatric symptoms by age 50 years. Ataxia and psychiatric abnormalities are frequently the initial findings, followed by involuntary movement, parkinsonism, dementia, and pyramidal signs. Brain MRI shows variable atrophy of the cerebrum, brain stem, and cerebellum. The clinical features correlate with the length of the polyglutamine expansion but are not absolutely predictive of the clinical course., The diagnosis of SCA17 is established in a proband by identification of an abnormal CAG/CAA repeat expansion in TBP. Affected individuals usually have more than 41 repeats. The CAA and CAG codons both encode glutamine residues resulting in a pathogenic polyglutamine expansion., Treatment of manifestations: Psychotropic medications for psychiatric issues, anti-seizure medication for seizures (ASM); botulinum toxin injections for dystonia; adaptation of the environment to accommodate dementia. Prevention of secondary complications: Side effects of psychotropic medications and ASMs may require total or intermittent discontinuation of the treatment or reduction in dose. Surveillance: Annual or semiannual evaluation by a neurologist or more frequently if symptoms are progressing rapidly. Agents/circumstances to avoid: Sedative/hypnotic agents, such as ethanol or certain medications, may exacerbate incoordination., SCA17 is inherited in an autosomal dominant manner. Offspring of affected individuals are at a 50% risk of inheriting the expanded TBP allele. The age of onset, severity, specific symptoms, and progression of the disease are variable and cannot be precisely predicted by family history or size of expansion. Prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible if the diagnosis has been established in an affected family member by molecular genetic testing.",
- "language": "eng",
- "note": "PMID: 20301611\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1438"
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1438",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1438']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1438;@pmid:35245110",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1438;@pmid:35245110",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1438;@pmid:35245110']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1530",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1530",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1530']' timed out after 3 seconds"
},
{
"id": "url:medlineplus.gov/genetics/condition/fragile-xe-syndrome",
@@ -159386,6 +161952,59 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:medlineplus.gov/genetics/condition/nonsyndromic-holoprosencephaly/"
},
+{
+ "id": "malacard:KNS007",
+ "manubot_success": false,
+ "link": "https://www.malacards.org/card/KNS007",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.malacards.org/card/KNS007']' timed out after 3 seconds"
+},
+{
+ "id": "doi:10.17161/2tmg0f25",
+ "manubot_success": true,
+ "title": "A Case of Very Late Onset Spinobulbar Muscular Atrophy with Normal Creatine Kinase",
+ "type": "article-journal",
+ "doi": "10.17161/2tmg0f25",
+ "authors": [
+ ["Joseph", "Conway"],
+ ["Yuebing", "Li"],
+ ["Sakhi", "Bhansali"]
+ ],
+ "publisher": "RRNMF Neuromuscular Journal",
+ "issn": "",
+ "date": "2024-12-17",
+ "link": "https://doi.org/g8wt7z",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.17161/2tmg0f25"
+},
+{
+ "id": "doi:10.21203/rs.3.rs-5989910/v1",
+ "manubot_success": true,
+ "title": "Novel ATXN10 repeat motif patterns in Peruvian families modify disease age at onset",
+ "type": "manuscript",
+ "doi": "10.21203/rs.3.rs-5989910/v1",
+ "authors": [
+ ["Kamilla", "Sedov"],
+ ["Carla", "Manrique-Enciso"],
+ ["Madison James", "Yang"],
+ ["Ismael", "Araujo-Aliaga"],
+ ["Egor", "Dolzhenko"],
+ ["Samantha", "Kalla"],
+ ["Sarah", "Kingan"],
+ ["Elison", "Sarapura-Castro"],
+ ["Andrea", "Rivera-Valdivia"],
+ ["Maryenela", "Illanes-Manrique"],
+ ["Mario", "Cornejo-Olivas"],
+ ["Birgitt", "Schuele"]
+ ],
+ "publisher": "Springer Science and Business Media LLC",
+ "issn": "",
+ "date": "2025-02-12",
+ "link": "https://doi.org/g9bpfv",
+ "abstract": "Abstract\n Objectives: Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant disorder caused by large intronic expansions of pentanucleotide repeats in the ATXN10 gene. While various repeat motifs have been described, emerging evidence suggests that specific repeat motifs\u2014rather than merely repeat length alone\u2014can significantly modify disease features such as seizure prevalence and penetrance.\nMethods: We employed a novel multiplex 20-gene panel with Cas9-targeted, amplification-free long-read sequencing and optical genome mapping to elucidate ATXN10 repeat motif patterns and investigate potential genotype-phenotype correlations in index cases of six clinically well-characterized multigenerational SCA10 kindreds from Peru.\nResults: We detected ATXN10 repeat expansions ranging from 990 to 2002 pentanucleotide repeats (4.9 to 10 kb expansions) across six families. Importantly, we identified three mixed repeat motif patterns and ratios of (ATTCT)\u2099(ATTCC)\u2099, which were associated with differences in age at disease onset and anticipation.\nDiscussion: Specific ATXN10 repeat motif patterns and (ATTCT)n(ATTCC)n motif ratios may serve as modifiers of SCA10 age at onset rather than repeat length. ATXN10 repeat composition can only be fully resolved with long-read sequencing and makes it a fundamental diagnostic for clinical practice and genetic counseling. These findings underscore the need to adapt long-read sequencing clinical workflows to fully characterize large repeat expansions at the nucleotide level.
",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.21203/rs.3.rs-5989910/v1"
+},
{
"id": "doi:10.1101/gr.279634.124",
"manubot_success": true,
@@ -159445,45 +162064,27 @@
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1101/gr.279634.124"
},
{
- "id": "doi:10.1101/2022.09.12.22279739",
+ "id": "doi:10.1212/NXG.0000000000200245",
"manubot_success": true,
- "title": "Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort",
- "type": "manuscript",
- "doi": "10.1101/2022.09.12.22279739",
+ "title": "Redefining the Pathogenic CAG Repeat Units Threshold in\n CACNA1A\n for Spinocerebellar Ataxia Type 6",
+ "type": "article-journal",
+ "doi": "10.1212/nxg.0000000000200245",
"authors": [
- ["Warren A", "Cheung"],
- ["Adam F", "Johnson"],
- ["William J", "Rowell"],
- ["Emily", "Farrow"],
- ["Richard", "Hall"],
- ["Ana SA", "Cohen"],
- ["John C", "Means"],
- ["Tricia", "Zion"],
- ["Daniel M", "Portik"],
- ["Christopher T", "Saunders"],
- ["Boryana", "Koseva"],
- ["Chengpeng", "Bi"],
- ["Tina", "Truong"],
- ["Carl", "Schwendinger-Schreck"],
- ["Byunggil", "Yoo"],
- ["Jeffrey J", "Johnston"],
- ["Margaret", "Gibson"],
- ["Gilad", "Evrony"],
- ["William B", "Rizzo"],
- ["Isabelle", "Thiffault"],
- ["Scott T", "Younger"],
- ["Tom", "Curran"],
- ["Aaron M", "Wenger"],
- ["Elin", "Grundberg"],
- ["Tomi", "Pastinen"]
+ ["Yuya", "Hatano"],
+ ["Tomohiko", "Ishihara"],
+ ["Sachiko", "Hirokawa"],
+ ["Hidetoshi", "Date"],
+ ["Yuji", "Takahashi"],
+ ["Hidehiro", "Mizusawa"],
+ ["Osamu", "Onodera"]
],
- "publisher": "openRxiv",
+ "publisher": "Neurology Genetics",
"issn": "",
- "date": "2022-09-15",
- "link": "https://doi.org/g8rxvr",
- "abstract": "Abstract\n \n Long-read HiFi genome sequencing (GS) allows for accurate detection and direct phasing of single nucleotide variants (SNV), indels, and structural variants (SV). Recent algorithmic development enables simultaneous detection of CpG methylation (mCpG) for analysis of regulatory element (RE) activity directly in HiFi-GS. We generated a comprehensive haplotype-resolved HiFi-GS dataset from a rare disease cohort of 276 samples in 152 families to identify rare (\u223c0.5%) hyper-mCpG events. We found that 80% of these events are allele-specific and predicted to cause loss of RE (LRE). We demonstrated heritability of extreme hyper-mCpG including rare\n cis\n SNVs and SVs causing short (\u223c200bp) and large hyper-mCpG events (>1 kb), respectively. We identified novel repeat expansions in proximal promoters predicting allelic gene silencing via hyper-mCpG and demonstrated allelic transcriptional events downstream. On average 30-40 LREs overlapped rare disease genes per patient, providing indications for variation prioritization. LRE led to a previously undiagnosed pathogenic allele in\n DIP2B\n causing global developmental delay. We propose that use of HiFi-GS in unsolved rare disease cases will allow detection of unconventional diseases alleles due to LRE.\n ",
+ "date": "2025-04-01",
+ "link": "https://doi.org/g86sm6",
+ "abstract": "",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1101/2022.09.12.22279739"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1212/nxg.0000000000200245"
},
{
"id": "doi:10.1016/j.mcp.2024.102005",
@@ -159601,6 +162202,31 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1212/nxg.0000000000200253"
},
+{
+ "id": "doi:https://doi.org/10.64898/2026.05.08.26352223",
+ "manubot_success": true,
+ "title": "Huntingtin CAG repeat is a continuous modifier of brain structure and health vulnerability",
+ "type": "report",
+ "doi": "https://doi.org/10.64898/2026.05.08.26352223",
+ "authors": [
+ ["Harriet", "Cullen"],
+ ["Christopher", "Clarkson"],
+ ["Henrique", "Nascimento"],
+ ["Matteo", "Zanovello"],
+ ["Jeffrey", "Long"],
+ ["Mark", "Caulfield"],
+ ["Michael", "Simpson"],
+ ["Sarah J", "Tabrizi"],
+ ["Arianna", "Tucci"]
+ ],
+ "publisher": "Genetic and Genomic Medicine",
+ "issn": "",
+ "date": "2026-05-12",
+ "link": "https://doi.org/hb6bxr",
+ "abstract": "Abstract\r\n \r\n Huntington\u2019s disease is caused by a CAG repeat expansion in the Huntingtin gene (\r\n HTT\r\n ) above a pathogenic threshold; however, the biological consequences of repeat-length variation below this threshold remain poorly understood. Using whole-genome sequencing and linked phenotypic data from UK Biobank participants, we show that repeat-length variation within the normal and intermediate range is associated with measurable differences in brain volume, neuropsychiatric risk, and cognitive processing, and that only one third of pathogenic allele carriers have a recorded clinical diagnosis.\r\n \r\n \r\n Analyses were performed in 474,446 UK Biobank participants, including 30,052 with intermediate repeats (27\r\n \u2013\r\n 35), 873 with reduced-penetrance repeats (36\r\n \u2013\r\n 39), and 155 with pathogenic repeats (\u226540); 48,378 individuals had structural MRI. For quantitative phenotypes (brain volumes and cognition), associations with continuous repeat length were modelled using linear regression within the normal and intermediate range (\u226435 repeats); deviation at \u226536 repeats was defined as departure from the extrapolated linear trend. For clinical outcomes (depression, anxiety, dementia, and delirium), repeat length was analysed categorically using Kaplan\u2013Meier and Cox proportional hazards models with age as the timescale.\r\n \r\n \r\n Within the normal and intermediate range, longer\r\n HTT\r\n CAG repeat length was associated with smaller subcortical and global brain volumes, including the accumbens, putamen, thalamus, hippocampus, and total grey and white matter, with effects amplified in older individuals. Intermediate alleles were associated with an increase in age-dependent depression risk (HR = 1.05, 95% CI 1.02\r\n \u2013\r\n 1.10) and longer repeat length within the normal and intermediate range predicted faster reaction time, a pattern that reversed sharply at pathogenic lengths. Among carriers of 40\u201341 CAG repeats, only 42% (95% CI 19\u201359%) had received a recorded Huntington\u2019s disease diagnosis by age 84; however, the majority of pathogenic allele carriers who underwent neuroimaging met biomarker criteria for Stage 1 disease, indicating that early neurodegeneration is present in these individuals.\r\n \r\n \r\n This work challenges the current understanding of the\r\n HTT\r\n CAG repeat length as a purely categorical determinant of monogenic disease and shows that repeat length acts as a quantitative modifier of brain structure and neuropsychiatric vulnerability across the population. These findings have implications for risk prediction, penetrance estimation, and the interpretation of repeat variation in population genomics.",
+ "language": "en",
+ "note": "DOI: 10.64898/2026.05.08.26352223\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:https://doi.org/10.64898/2026.05.08.26352223"
+},
{
"id": "doi:10.1101/2025.03.31.646505",
"manubot_success": true,
@@ -159670,6 +162296,21 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1186/s12964-025-02079-1"
},
+{
+ "id": "doi:https://doi.org/10.1016/B978-0-444-63945-5.00013-1",
+ "manubot_success": true,
+ "title": "Genetic Creutzfeldt\u2013Jakob disease",
+ "type": "chapter",
+ "doi": "https://doi.org/10.1016/b978-0-444-63945-5.00013-1",
+ "authors": [],
+ "publisher": "Handbook of Clinical Neurology",
+ "issn": "",
+ "date": "2018-01-01",
+ "link": "https://doi.org/hb6bxs",
+ "abstract": "",
+ "language": "en",
+ "note": "DOI: 10.1016/B978-0-444-63945-5.00013-1\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:https://doi.org/10.1016/b978-0-444-63945-5.00013-1"
+},
{
"id": "doi:10.1136/jnnp-2024-ABN.259",
"manubot_success": true,
@@ -159908,3314 +162549,8 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://gnomad.broadinstitute.org/short-tandem-repeat/XYLT1?dataset=gnomad_r4"
},
-{
- "id": "genereviews:NBK1123",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1123/",
- "title": "Multiple Epiphyseal Dysplasia, Autosomal Dominant",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Michael D.", "Briggs"],
- ["Michael J.", "Wright"],
- ["Geert R.", "Mortier"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children report fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints., The diagnosis of autosomal dominant MED is established in a proband with typical clinical and radiographic findings and/or a heterozygous pathogenic variant in COL9A1, COL9A2, COL9A3, COMP, or MATN3 identified by molecular genetic testing., Treatment of manifestations: For pain control, a combination of analgesics and physiotherapy including hydrotherapy; referral to a rheumatologist or pain specialist as needed; consideration of realignment osteotomy and/or acetabular osteotomy to limit joint destruction and development of osteoarthritis. Consider total joint arthroplasty if the degenerative hip changes cause uncontrollable pain/dysfunction. Offer psychosocial support addressing issues of short stature, chronic pain, disability, and employment. Surveillance: Evaluation by an orthopedic surgeon for chronic pain and/or limb deformities (genu varum, genu valgum). Agents/circumstances to avoid: Obesity; exercise causing repetitive strain on affected joints., By definition, autosomal dominant MED is inherited in an autosomal dominant manner. Many individuals with autosomal dominant MED have an affected parent. The proportion of individuals with autosomal dominant MED who have the disorder as the result of a de novo pathogenic variant is unknown. Each child of an individual with autosomal dominant MED has a 50% chance of inheriting the pathogenic variant. Once the autosomal dominant MED-related pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 20301302\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1123"
-},
-{
- "id": "genereviews:NBK599589",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK599589/",
- "title": "GAA-FGF14-Related Ataxia",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["David", "Pellerin"],
- ["Matt", "Danzi"],
- ["Mathilde", "Renaud"],
- ["Henry", "Houlden"],
- ["Matthis", "Synofzik"],
- ["Stephan", "Zuchner"],
- ["Bernard", "Brais"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "GAA-FGF14-related ataxia is a mid to late adult-onset slowly progressive cerebellar syndrome with predominant gait involvement. Median age at onset is 60 years (range: 21-87 years). Nearly 50% of individuals may first experience episodic manifestations including gait and limb ataxia, visual disturbances (diplopia, oscillopsia, and blurring), vertigo and/or dizziness, or dysarthria on average two to four years before the onset of progressive ataxia. Episodic symptoms may persist after the onset of progressive ataxia and may be triggered by alcohol intake and physical activity. Although some individuals eventually require assistance with mobility, use of a wheelchair is less necessary than in other common hereditary spinocerebellar ataxias (e.g., SCA1, SCA2, and SCA3). Dysarthria does not develop in all individuals and often remains mild to moderate. Cerebellar oculomotor signs, including downbeat nystagmus, horizontal gaze-evoked nystagmus, and impaired visual fixation suppression of the vestibuloocular reflex, are common. Unilateral or bilateral vestibular hypofunction and tremor of the upper limbs may occur. Age of onset and clinical presentation can vary within the same family., The diagnosis of GAA-FGF14-related ataxia is established in a symptomatic individual with a compatible phenotype by the identification of a heterozygous (GAA)>300 repeat expansion in intron 1 of FGF14 by molecular genetic testing. Due to reduced penetrance of FGF14 (GAA)250-300 repeat expansions, the diagnosis of GAA-FGF14-related ataxia can also be established in symptomatic individuals with a (GAA)250-300 repeat expansion if their phenotype is compatible, other inherited causes of ataxia have been excluded, and, if possible, familial segregation with the disease is confirmed. Individuals whose phenotype differs significantly from GAA-FGF14-related ataxia should be screened for other causes of inherited ataxias., Treatment of manifestations: There is no cure for GAA-FGF14-related ataxia. The goals of treatment are to improve quality of life, maximize function, and reduce complications. This ideally involves multidisciplinary care by specialists in relevant fields, such as neurologists, ophthalmologists, orthoptists, physical therapists, occupational therapists, speech-language therapists, and psychologists. Preliminary studies have shown promising symptomatic benefits of 4-aminopyridine for ataxic symptoms and downbeat nystagmus. Surveillance: To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, regularly scheduled follow up by the treating specialists is recommended. Agents/circumstances to avoid: Inform affected individuals that alcohol intake and strenuous physical activity may precipitate episodes of ataxia and may exacerbate incoordination. Avoid medications with known toxicity to the cerebellum and the vestibular system., GAA-FGF14-related ataxia is inherited in an autosomal dominant manner. Most individuals diagnosed with GAA-FGF14-related ataxia inherit an abnormal GAA repeat expansion from a parent who has a high normal-size or likely pathogenic or pathogenic GAA repeat expansion (a parent with an abnormal GAA repeat expansion may or may not have manifestations of GAA-FGF14-related ataxia). Each child of an individual with GAA-FGF14-related ataxia has a 50% chance of inheriting the GAA-FGF14-related allele. The likelihood that offspring who inherit the GAA-FGF14-related allele will have a GAA repeat size in the pathogenic, reduced penetrance, or non-pathogenic range is influenced by intergenerational instability; the size of the GAA repeat is more likely to expand upon maternal transmission and to contract upon paternal transmission. Once a GAA repeat expansion has been identified in an affected family member, predictive testing for at-risk relatives and prenatal and preimplantation genetic testing for GAA-FGF14-related ataxia are possible. However, accurate prediction of future possible clinical manifestations in a fetus found to have an FGF14 GAA repeat expansion is not possible, and the current lack of knowledge regarding somatic instability of the repeat prenatally makes the interpretation of prenatal genetic test results challenging.",
- "language": "eng",
- "note": "PMID: 38271551\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK599589"
-},
-{
- "id": "genereviews:NBK1126",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1126/",
- "title": "Oculopharyngeal Muscular Dystrophy",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Capucine", "Trollet"],
- ["Alexis", "Boulinguiez"],
- ["Fanny", "Roth"],
- ["Tanya", "Stojkovic"],
- ["Gillian", "Butler-Browne"],
- ["Teresinha", "Evangelista"],
- ["Jean", "Lacau St Guily"],
- ["Pascale", "Richard"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Oculopharyngeal muscular dystrophy (OPMD) is characterized by ptosis and dysphagia due to selective involvement of the muscles of the eyelids and pharynx, respectively. For the vast majority of individuals with typical OPMD, the mean age of onset of ptosis is usually 48 years and of dysphagia 50 years; in 5%-10% of individuals with severe OPMD, onset of ptosis and dysphagia occur before age 45 years and is associated with lower limb girdle weakness starting around age 60 years. Swallowing difficulties, which determine prognosis, increase the risk for potentially life-threatening aspiration pneumonia and poor nutrition. Other manifestations as the disease progresses can include limitation of upward gaze, tongue atrophy and weakness, chewing difficulties, wet voice, facial muscle weakness, axial muscle weakness, and proximal limb girdle weakness predominantly in lower limbs. Some individuals with severe involvement will eventually need a wheelchair. Neuropsychological tests have shown altered scores in executive functions in some., The diagnosis of OPMD is established in a proband with a suggestive phenotype in whom either of the following genetic findings are identified: a heterozygous GCN trinucleotide repeat expansion of 11 to 18 repeats in the first exon of PABPN1 (~90% of affected individuals) or biallelic GCN trinucleotide repeat expansions that are either compound heterozygous (GCN[11] with a second expanded allele) or homozygous (GCN[11]+[11], GCN[12]+[12], GCN[13]+[13], etc.) (~10% of affected individuals)., Treatment of manifestations: Treatment for ptosis may include blepharoplasty by either resection of the levator palpebrea aponeurosis or frontal suspension of the eyelids. The initial treatment for dysphagia is dietary modification; surgical intervention for dysphagia should be considered when symptomatic dysphagia has a significant impact on quality of life. Physical and occupational therapy are encouraged; assistive devices may be necessary to prevent falls and assist with walking and mobility. Neuropsychological support as needed. Surveillance: Routine evaluation of: neuromuscular and oculomotor involvement; dysphagia including nutritional status and diet; respiratory function given the increased risk for both aspiration and nocturnal hypoventilation; and cognitive function including development of psychiatric symptoms., OPMD is inherited in an autosomal dominant manner. The risk to sibs of a proband depends on the genetic status of the parents of the proband: If one parent of a proband is heterozygous for a GCN repeat expansion in PABPN1 (GCN[11_18]+ [10]) and the other parent has two normal alleles (GCN[10]+[10]), the risk to the sibs of inheriting a GCN repeat expansion is 50%. If both parents of the proband are heterozygous for a GCN repeat expansion, sibs have a 25% risk of inheriting two GCN repeat expansions and a 50% risk of inheriting one GCN repeat expansion. If one parent of the proband has biallelic GCN repeat expansions and the other parent has two normal alleles, all sibs will inherit a GCN repeat expansion. If one parent of the proband has biallelic GCN repeat expansions and the other parent is heterozygous for a GCN repeat expansion, sibs of the proband have a 50% risk of inheriting biallelic GCN repeat expansions and 50% risk of inheriting one GCN repeat expansion. Sibs who inherit either one or two GCN repeat expansions will be affected.",
- "language": "eng",
- "note": "PMID: 20301305\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1126"
-},
-{
- "id": "genereviews:NBK1530",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1530/",
- "title": "Holoprosencephaly Overview",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Cedrik", "Tekendo-Ngongang"],
- ["Maximilian", "Muenke"],
- ["Paul", "Kruszka"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "The purpose of this overview is to: 1.. Describe the clinical characteristics of holoprosencephaly; 2.. Review the genetic causes of holoprosencephaly; 3.. Provide an evaluation strategy to identify (when possible) the genetic cause of holoprosencephaly in a proband; 4.. Inform genetic counseling of family members of an individual with holoprosencephaly.",
- "language": "eng",
- "note": "PMID: 20301702\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1530"
-},
-{
- "id": "genereviews:NBK1119",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1119/",
- "title": "Dystrophinopathies",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Basil T.", "Darras"],
- ["David K.", "Urion"],
- ["Partha S.", "Ghosh"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated DCM when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones including delays in walking independently and standing up from a supine position. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping, and standing up from a squatting position. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in almost all individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and progressive cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness. With improved diagnostic techniques, it has been recognized that the mild end of the spectrum includes men with onset of symptoms after age 30 years who remain ambulatory even into their 60s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilatation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM., The diagnosis of a dystrophinopathy is established in a proband with the characteristic clinical findings and elevated CK concentration and/or by identification of a hemizygous pathogenic variant in DMD on molecular genetic testing in a male and of a heterozygous pathogenic variant in DMD on molecular genetic testing in a female. Females may present with a classic dystrophinopathy or may be asymptomatic carriers., Treatment of manifestations: ACE inhibitors are used with or without beta blockers for cardiomyopathy in both DMD and BMD phenotypes. Congestive heart failure is treated with diuretics and oxygen as needed; cardiac transplantation is offered to persons with severe dilated cardiomyopathy and BMD with limited or no clinical evidence of skeletal muscle disease. Scoliosis is treated with bracing and surgery. Corticosteroid therapy improves muscle strength and function for individuals with DMD between ages five and 15 years; the same treatment is used in BMD, although the efficacy is less clear. Dystrophin restoration therapies have been developed by using synthetic antisense oligonucleotides to restore the reading frame by exon skipping for individuals with specific pathogenic variants in DMD. Prevention of secondary complications: Evaluation by a pulmonologist and cardiologist before surgeries; pneumococcal and influenza immunizations annually; nutrition assessment; physical therapy to promote mobility and prevent contractures; sunshine and a balanced diet rich in vitamin D and calcium to improve bone density and reduce the risk of fractures; weight control to avoid obesity. Surveillance: For males with DMD or BMD: annual or biannual evaluation by a cardiologist beginning at the time of diagnosis; monitoring for scoliosis; baseline pulmonary function testing before wheelchair dependence; frequent evaluations by a pediatric pulmonologist. For heterozygous females: cardiac evaluation at least once after the teenage years. Agents/circumstances to avoid: Botulinum toxin injections; succinylcholine and inhalational anesthetics because of susceptibility to malignant hyperthermia or malignant hyperthermia-like reactions. Evaluation of relatives at risk: Early identification of heterozygous females who are at increased risk for cardiomyopathy and, thus, need routine cardiac surveillance and prompt treatment., The dystrophinopathies are inherited in an X-linked manner. The risk to the sibs of a proband depends on the genetic status of the mother. Heterozygous females have a 50% chance of transmitting the DMD pathogenic variant in each pregnancy. Sons who inherit the pathogenic variant will be affected; daughters who inherit the pathogenic variant are heterozygous and may have a range of clinical manifestations. Males with DMD usually do not reproduce. Males with BMD or DMD-associated DCM may reproduce: all of their daughters are heterozygotes; none of their sons inherit their father's DMD pathogenic variant. Carrier testing for at-risk females, prenatal testing, and preimplantation genetic testing are possible if the DMD pathogenic variant in the family is known.",
- "language": "eng",
- "note": "PMID: 20301298\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1119"
-},
-{
- "id": "genereviews:NBK1268",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1268/",
- "title": "Spinocerebellar Ataxia Type 8",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["John Douglas", "Cleary"],
- ["S. H.", "Subramony"],
- ["Laura PW", "Ranum"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "SCA8 is a slowly progressive ataxia with onset typically in the third to fifth decade but with a range from before age one year to after age 60 years. Common initial manifestations are scanning dysarthria with a characteristic drawn-out slowness of speech and gait instability. Over the disease course other findings can include eye movement abnormalities (nystagmus, abnormal pursuit and abnormal saccades, and, rarely, ophthalmoplegia); upper motor neuron involvement; extrapyramidal signs; brain stem signs (dysphagia and poor cough reflex); sensory neuropathy; and cognitive impairment (e.g., executive dysfunction, psychomotor slowing and other features of cerebellar cognitive-affective disorder in some). Life span is typically not shortened., The diagnosis of SCA8 is established in a proband with suggestive findings and a heterozygous abnormal (CTG\u00b7CAG)n repeat expansion in the two overlapping genes ATXN8OS/ATXN8 identified by molecular genetic testing., Treatment of manifestations: Canes and walkers to help prevent falls; modification of the home (e.g., grab bars, raised toilet seats, ramps for motorized chairs) as needed; speech therapy and communication devices for those with dysarthria; weighted eating utensils and dressing hooks to maintain some independence; feeding evaluations to reduce risk of aspiration from dysphagia; physical activity to maintain muscular and cardiopulmonary conditioning. Surveillance: Routine follow up by the multidisciplinary care team including neurology to assess disease progression; physiatry and occupational and physical therapy to assess mobility and self-help skills; speech and language specialists to assess need for alternative communication method or speech therapy; feeding team to assess nutrition, aspiration risk, and feeding methods; and mental health professionals. Agents/circumstances to avoid: Alcohol can exacerbate incoordination., SCA8 is inherited in an autosomal dominant manner with reduced penetrance. To date, all individuals diagnosed with SCA8 whose parents have been evaluated with molecular genetic testing have one parent with an ATXN8OS/ATXN8 (CTG\u00b7CAG)n repeat expansion. The transmitting parent may or may not have clinical manifestations of SCA8. If a parent of the proband is known to have a (CTG\u00b7CAG)n repeat expansion, the risk to each sib of inheriting the repeat expansion is 50%. The (CTG\u00b7CAG)n repeat expansion is highly unstable and almost always changes in size on transmission: the repeat expansion is more likely to become larger when maternally transmitted and more likely to contract with paternal transmission. Sibs who inherit a (CTG\u00b7CAG)n repeat expansion may or may not develop clinical manifestations of SCA8. Once an SCA8 (CTG\u00b7CAG)n repeat expansion has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 20301445\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1268"
-},
-{
- "id": "genereviews:NBK1165",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1165/",
- "title": "Myotonic Dystrophy Type 1",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Thomas D.", "Bird"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital. Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities; adults may become physically disabled and may have a shortened life span. Congenital DM1 is characterized by hypotonia and severe generalized weakness at birth, often with respiratory insufficiency and early death; intellectual disability is common., DM1 is caused by expansion of a CTG trinucleotide repeat in the noncoding region of DMPK. The diagnosis of DM1 is suspected in individuals with characteristic muscle weakness and is confirmed by molecular genetic testing of DMPK. CTG repeat length exceeding 34 repeats is abnormal. Molecular genetic testing detects pathogenic variants in nearly 100% of affected individuals., Treatment of manifestations: Use of ankle-foot orthoses, wheelchairs, or other assistive devices; special education support for affected children; treatment of hypothyroidism; management of pain; consultation with a cardiologist for symptoms or EKG evidence of arrhythmia; removal of cataracts if vision is impaired; hormone replacement therapy for males with hypogonadism; surgical excision of pilomatrixoma and basal cell carcinomas. Prevention of secondary complications: Choice of induction agents, airway care, local anesthesia, and neuromuscular blockade to minimize complications during surgery; cardiac pacemakers or implantable cardioverter-defibrillators may prevent life-threatening arrhythmias; continue physical activity and maintain appropriate weight. Surveillance: Annual EKG or 24-hour Holter monitoring; annual measurement of fasting serum glucose concentration and glycosylated hemoglobin concentration; ophthalmology examination every two years; attention to nutritional status; polysomnography for sleep disturbances. Agents/circumstances to avoid: Cholesterol-lowering medications (i.e., statins), which can cause muscle pain and weakness; the anesthetic agent vecuronium; succinylcholine, propofol, and doxorubicin; smoking; obesity; illicit drug use; excessive alcohol intake. Evaluation of relatives at risk: Molecular genetic testing for early diagnosis of relatives at risk to allow treatment of cardiac manifestations, diabetes mellitus, and cataracts., DM1 is inherited in an autosomal dominant manner. Offspring of an affected individual have a 50% chance of inheriting the expanded allele. Pathogenic alleles may expand in length during gametogenesis, resulting in the transmission of longer trinucleotide repeat alleles that may be associated with earlier onset and more severe disease than that observed in the parent. Prenatal testing and preimplantation genetic testing are possible when the diagnosis of DM1 has been confirmed by molecular genetic testing in an affected family member.",
- "language": "eng",
- "note": "PMID: 20301344\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1165"
-},
-{
- "id": "genereviews:NBK1184",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1184/",
- "title": "Spinocerebellar Ataxia Type 1",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Puneet", "Opal"],
- ["Tetsuo", "Ashizawa"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Spinocerebellar ataxia type 1 (SCA1) is characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. Early in the disease, affected individuals may have gait disturbance, slurred speech, difficulty with balance, brisk deep tendon reflexes, hypermetric saccades, nystagmus, and mild dysphagia. Later signs include slowing of saccadic velocity, development of upgaze palsy, dysmetria, dysdiadochokinesia, and hypotonia. In advanced stages, muscle atrophy, decreased deep tendon reflexes, loss of proprioception, cognitive impairment (e.g., frontal executive dysfunction, impaired verbal memory), chorea, dystonia, and bulbar dysfunction are seen. Onset is typically in the third or fourth decade, although childhood onset and late-adult onset have been reported. Those with onset after age 60 years may manifest a pure cerebellar phenotype. Interval from onset to death varies from ten to 30 years; individuals with juvenile onset show more rapid progression and more severe disease. Anticipation is observed. An axonal sensory neuropathy detected by electrophysiologic testing is common; brain imaging typically shows cerebellar and brain stem atrophy., The diagnosis of SCA1 is established in a proband with characteristic clinical findings and an abnormal CAG repeat expansion in ATXN1 identified by molecular genetic testing. Affected individuals usually have 39 or more CAG repeats., Treatment of manifestations: Supportive care including adaptive devices, physical therapy, occupational therapy, avoidance of obesity; intensive rehabilitation (coordinative physiotherapy) may be beneficial; speech therapy and communication devices for dysarthria; video esophagram to help identify the consistency of food least likely to trigger aspiration and feeding devices may be indicated with recurrent aspiration; caloric support for those with weight loss; vitamin supplementation as needed; psychotherapy, neuropsychologic rehabilitation, and/or standard psychiatric treatments for cognitive and psychiatric manifestations; pharmacotherapy and/or referral to pain management as needed for pain. Surveillance: Every three to six months: neurologic assessment for progression of ataxia, and physiatry, occupational therapy, and physical therapy assessment for mobility and self-help skills; at each visit: assessment of access to communication, speech needs, aspiration risk, feeding needs, mood, psychiatric manifestations, cognition, and family needs. Agents/circumstances to avoid: Alcohol, medications known to cause nerve damage (e.g., isoniazid, large-dose vitamin B6), and circumstances that could lead to physical harm, such as operating machinery or climbing to great heights., SCA1 is inherited in an autosomal dominant manner. Offspring of an affected individual have a 50% chance of inheriting the expanded allele. Anticipation has been observed in SCA1; expansions are more likely to occur when the pathogenic ATXN1 allele is paternally transmitted, and contractions are more typical of maternal transmissions. Once an abnormal CAG trinucleotide expansion in ATXN1 has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 20301363\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1184"
-},
-{
- "id": "genereviews:NBK1196",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1196/",
- "title": "Spinocerebellar Ataxia Type 3",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Henry", "Paulson"],
- ["Vikram", "Shakkottai"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthalmoplegia, action-induced facial and lingual fasciculations, and bulging eyes. Neurologic findings tend to evolve as the disorder progresses., The diagnosis of SCA3 is established in a proband with suggestive findings and a heterozygous abnormal CAG trinucleotide repeat expansion in ATXN3 identified by molecular genetic testing., Treatment of manifestations: Management is supportive as no medication slows the course of disease. The goals of treatment are to maximize function and reduce complications. It is recommended that each individual be managed by a multidisciplinary team of relevant specialists such as neurologists, occupational therapists, physical therapists, physiatrists, orthopedists, nutritionists, speech therapists, social workers, and psychologists. Various manifestations may respond to pharmacologic agents. Regular physical activity is recommended, including combined physical and occupational therapy focused on gait and coordination. Canes and walkers help prevent falling; motorized scooters, weighted eating utensils, and dressing hooks help to maintain independence. Speech therapy and communication devices may benefit those with dysarthria, and dietary modification those with dysphagia. Other recommendations include home adaptations to prevent falls and improve mobility, dietary supplements if caloric intake is reduced, weight control to facilitate ambulation and mobility, and caution with general anesthesia. Surveillance: Annual assessments (or more frequently as needed) of neurologic findings (e.g., dysarthria, dysphagia, bladder dysfunction, neuropathic pain, cognitive and psychiatric manifestations), weight and nutritional status, and social support., SCA3 is inherited in an autosomal dominant manner. Each child of an affected individual has a 50% chance of inheriting the ATXN3 CAG repeat expansion. Once the CAG repeat expansion has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible. Note: The prenatal finding of an ATXN3 CAG repeat expansion cannot be used to accurately predict onset, severity, type of symptoms, or rate of progression of SCA3.",
- "language": "eng",
- "note": "PMID: 20301375\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1196"
-},
-{
- "id": "genereviews:NBK1427",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1427/",
- "title": "Congenital Central Hypoventilation Syndrome",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Debra E.", "Weese-Mayer"],
- ["Casey M.", "Rand"],
- ["Ilya", "Khaytin"],
- ["Susan M.", "Slattery"],
- ["Kai Lee", "Yap"],
- ["Mary L.", "Marazita"],
- ["Elizabeth M.", "Berry-Kravis"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control. The age of initial recognition of CCHS ranges from neonatal onset (i.e., in the first 30 days of life) to (less commonly) later onset (from 1 month to adulthood). Neonatal-onset CCHS is characterized by apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; ANSD including decreased heart rate beat-to-beat variability and sinus pauses; altered temperature regulation; and altered pupillary response to light. Some children have altered development of neural crest-derived structures (i.e., Hirschsprung disease, altered esophageal motility/dysphagia, and severe constipation even in the absence of Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Neurocognitive delay is variable, and possibly influenced by cyanotic breath holding, prolonged sinus pauses, need for 24-hour/day artificial ventilation, and seizures. Later-onset CCHS is characterized by alveolar hypoventilation during sleep and attenuated manifestations of ANSD., The diagnosis of CCHS is established in a proband with suggestive findings and a heterozygous PHOX2B pathogenic variant identified on molecular genetic testing., Treatment of manifestations: Management by multidisciplinary specialists, including pediatric pulmonology, sleep medicine, cardiology, oncology, ophthalmology, gastroenterology, neurodevelopmental psychology, and neurology, is recommended. The treatment goals for CCHS are to secure the airway and to use chronic artificial ventilatory support at home to compensate for the hypoventilation and the altered/absent ventilatory responses to hypoxemia and hypercarbia. Prolonged transient asystoles that may present as syncope and/or staring spells and are of significant duration (\u22653.0 seconds) may warrant placement of a cardiac pacemaker; abnormal pupillary reactivity may necessitate protective eye wear given the amount of light exposure in daily life from LED lights, and screen time in educational settings, computer-based work environments, and mobile devices. Other findings treated as per standard practice include Hirschsprung disease and other gastrointestinal motility issues; tumors of neural crest origin; and cognitive impairment/delay. Surveillance: Assess every six months for the first three years, then annually thereafter: (1) in a pediatric respiratory physiology laboratory spontaneous breathing awake (in varied age-appropriate activities of daily living during the daytime and before sleep) and asleep, with recording of respiratory inductance plethysmography of the chest and abdomen, hemoglobin saturation with pulse waveform, end-tidal carbon dioxide level with visible waveform, electrocardiogram, blood pressure, cerebral regional blood flow/oxygenation, and appropriate sleep state staging measures; (2) hemoglobin/hematocrit and reticulocyte count for polycythemia; (3) 72-hour Holter recording for abrupt, prolonged asystoles; (4) echocardiogram changes consistent with right ventricular hypertrophy and cor pulmonale; (5) neurocognitive assessment/educational needs; and (6) comprehensive age-appropriate noninvasive autonomic testing. Agents/circumstances to avoid: Swimming and breath-holding contests (risk of asphyxia, death); alcohol (respiratory depression), recreational drugs (varied effects including death), and prescription as well as non-prescription medications/sedatives/anesthetics that could induce respiratory depression. Evaluation of relatives at risk: It is appropriate to clarify the genetic status of parents, sibs, and offspring of an individual with CCHS in order to identify as early as possible family members who would benefit from prompt initiation of treatment, surveillance, and awareness of agents/circumstances to avoid., CCHS is typically inherited in an autosomal dominant manner (CCHS caused by biallelic reduced penetrance PHOX2B pathogenic variants has been reported in two families). The majority of affected individuals have the disorder as the result of a de novo pathogenic variant. Somatic/germline mosaicism is present in 5%-25% of asymptomatic parents. If a parent of the proband is known to be heterozygous for the PHOX2B pathogenic variant identified in the proband, the risk to the sibs of inheriting the pathogenic variant is 50%. Once the PHOX2B pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible (because of the high frequency of parental mosaicism in CCHS, a fetus should be considered at risk for CCHS even if the PHOX2B pathogenic variant detected in the proband was not identified in either parent).",
- "language": "eng",
- "note": "PMID: 20301600\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1427"
-},
-{
- "id": "genereviews:NBK268647",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK268647/",
- "title": "C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Helena", "Gossye"],
- ["Sebastiaan", "Engelborghs"],
- ["Christine", "Van Broeckhoven"],
- ["Julie", "Zee"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis (C9orf72-FTD/ALS) is characterized most often by frontotemporal dementia (FTD) and upper and lower motor neuron disease (MND); however, atypical presentations also occur. Age at onset is usually between 50 and 64 years (range: 20-91 years) irrespective of the presenting manifestations, which may be pure FTD, pure amyotrophic lateral sclerosis (ALS), or a combination of the two phenotypes. The clinical presentation is highly heterogeneous and may differ between and within families, causing an unpredictable pattern and age of onset of clinical manifestations. The presence of MND correlates with an earlier age of onset and a worse overall prognosis., The diagnosis of C9orf72-FTD/ALS is established in a proband with suggestive findings and a heterozygous abnormal G4C2 (GGGGCC) hexanucleotide repeat expansion in C9orf72 identified by molecular genetic testing., Treatment of manifestations: Care is often provided by a multidisciplinary team that includes a neurologist, specially trained nurses, pulmonologist, speech therapist, physical therapist, occupational therapist, respiratory therapist, nutritionist, psychologist, social worker, and genetic counselor. Surveillance: Routine follow up by multidisciplinary specialists to monitor neurologic findings, mobility and activities of daily living, psychiatric/behavioral manifestations, nutrition and safety of oral feeding, respiratory and bladder function, and needs of affected individuals and care providers for psychosocial support., C9orf72-FTD/ALS is inherited in an autosomal dominant manner. Almost all individuals diagnosed with C9orf72-FTD/ALS inherited a C9orf72 G4C2 repeat expansion from a heterozygous parent. In most families the heterozygous parent is affected; however, a heterozygous parent may not have clinical manifestations of the disorder due to age-dependent reduced penetrance. Each child of an individual with C9orf72-FTD/ALS has a 50% chance of inheriting the C9orf72 G4C2 repeat expansion. Once a C9orf72 G4C2 repeat expansion has been identified in an affected family member, prenatal and preimplantation genetic testing for the presence of the C9orf72 G4C2 repeat expansion are possible. (Note: The presence of a C9orf72 G4C2 repeat expansion cannot predict the disease course in any given individual.)",
- "language": "eng",
- "note": "PMID: 25577942\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK268647"
-},
-{
- "id": "pmid:19760265",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/19760265",
- "title": "Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes.",
- "type": "article-journal",
- "doi": "10.1007/s00439-009-0740-8",
- "authors": [
- ["Janniche", "Torsvik"],
- ["Stefan", "Johansson"],
- ["Anders", "Johansen"],
- ["Jakob", "Ek"],
- ["Jayne", "Minton"],
- ["Helge", "Raeder"],
- ["Sian", "Ellard"],
- ["Andrew", "Hattersley"],
- ["Oluf", "Pedersen"],
- ["Torben", "Hansen"],
- ["Anders", "Molven"],
- ["P\u00e5l R", "Nj\u00f8lstad"]
- ],
- "publisher": "Human genetics",
- "issn": "1432-1203",
- "date": "2009-09-17",
- "abstract": "We have previously shown that heterozygous single-base deletions in the carboxyl-ester lipase (CEL) gene cause exocrine and endocrine pancreatic dysfunction in two multigenerational families. These deletions were found in the first and fourth repeats of a variable number of tandem repeats (VNTR), which has proven challenging to sequence due to high GC-content and considerable length variation. We have therefore developed a screening method consisting of a multiplex PCR followed by fragment analysis. The method detected putative disease-causing insertions and deletions in the proximal repeats of the VNTR, and determined the VNTR-length of each allele. When blindly testing 56 members of the two families with known single-base deletions in the CEL VNTR, the method correctly assessed the mutation carriers. Screening of 241 probands from suspected maturity-onset diabetes of the young (MODY) families negative for mutations in known MODY genes (95 individuals from Denmark and 146 individuals from UK) revealed no deletions in the proximal repeats of the CEL VNTR. However, we found one Danish patient with a short, novel CEL allele containing only three VNTR repeats (normal range 7-23 in healthy controls). This allele co-segregated with diabetes or impaired glucose tolerance in the patient's family as six of seven mutation carriers were affected. We also identified individuals who had three copies of a complete CEL VNTR. In conclusion, the CEL gene is highly polymorphic, but mutations in CEL are likely to be a rare cause of monogenic diabetes.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19760265"
-},
-{
- "id": "pmid:16369531",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/16369531",
- "title": "Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.",
- "type": "article-journal",
- "doi": "10.1038/ng1708",
- "authors": [
- ["Helge", "Raeder"],
- ["Stefan", "Johansson"],
- ["P\u00e5l I", "Holm"],
- ["Ingfrid S", "Haldorsen"],
- ["Eric", "Mas"],
- ["V\u00e9ronique", "Sbarra"],
- ["Ingrid", "Nermoen"],
- ["Stig A", "Eide"],
- ["Louise", "Grevle"],
- ["Lise", "Bj\u00f8rkhaug"],
- ["J\u00f8rn V", "Sagen"],
- ["Lage", "Aksnes"],
- ["Oddmund", "S\u00f8vik"],
- ["Dominique", "Lombardo"],
- ["Anders", "Molven"],
- ["P\u00e5l Rasmus", "Nj\u00f8lstad"]
- ],
- "publisher": "Nature genetics",
- "issn": "1061-4036",
- "date": "2005-12-20",
- "abstract": "Dysfunction of the exocrine pancreas is observed in diabetes, but links between concurrent exocrine and endocrine pancreatic disease and contributing genetic factors are poorly characterized. We studied two families with diabetes and exocrine pancreatic dysfunction by genetic, physiological and in vitro functional studies. A genome-wide screen in Family 1 linked diabetes to chromosome 9q34 (maximal lod score 5.07). Using fecal elastase deficiency as a marker of exocrine pancreatic dysfunction refined the critical chromosomal region to 1.16 Mb (maximal lod score 11.6). Here, we identified a single-base deletion in the variable number of tandem repeats (VNTR)-containing exon 11 of the carboxyl ester lipase (CEL) gene, a major component of pancreatic juice and responsible for the duodenal hydrolysis of cholesterol esters. Screening subjects with maturity-onset diabetes of the young identified Family 2, with another single-base deletion in CEL and a similar phenotype with beta-cell failure and pancreatic exocrine disease. The in vitro catalytic activities of wild-type and mutant CEL protein were comparable. The mutant enzyme was, however, less stable and secreted at a lower rate. Furthermore, we found some evidence for an association between common insertions in the CEL VNTR and exocrine dysfunction in a group of 182 unrelated subjects with diabetes (odds ratio 4.2 (1.6, 11.5)). Our findings link diabetes to the disrupted function of a lipase in the pancreatic acinar cells.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16369531"
-},
-{
- "id": "pmid:39361122",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39361122",
- "title": "Unraveling the genetic basis of MODY: insights from next-generation sequencing.",
- "type": "article-journal",
- "doi": "10.1007/s13353-024-00907-7",
- "authors": [
- ["Metin", "Eser"],
- ["Gulam", "Hekimoglu"],
- ["Fatma", "Dursun"]
- ],
- "publisher": "Journal of applied genetics",
- "issn": "2190-3883",
- "date": "2024-10-03",
- "abstract": "Maturity-onset diabetes of the young (MODY) is an uncommon kind of monogenic diabetes. The major characteristics of MODY include not having insulin resistance and the absence of autoimmunity, early onset, and a family history suggesting autosomal-dominant inheritance. Nonetheless, genetic testing is necessary for diagnosis. The MODY-related genes CEL, ABCC8, PDX1, GCK, WFS1, HNF4A, HNF1A, and HNF1B were examined using Next Generation Sequencing (NGS) in this investigation. This study aimed to evaluate the genetic and clinical characteristics of patients referred with a preliminary diagnosis of MODY, retrospectively. A total of 30 patients (18 male and 12 female) participated, with ages ranging from 5 to 56. Eight distinct genetic variants were identified in 17 cases (57%). Pathogenic variants in the HNF1A gene have been identified. Likely pathogenic variants were found in CEL, ABCC8, GCK, and HNF4A. The genes APPL1, BLK, INS, KCNJ1, KLF11, NEUROD1, PAX4, RFX6, and ZFP57 were shown to be mutation-free. Four distinct pathogenic variants are found in this series. Unexpectedly high rates of pathogenic variants have been found in the HNF1A gene. In 27% of cases, there is a family history of vertically transmitted diabetes. The study highlights the importance of genetic testing for individuals with early-onset diabetes and a strong family history of the condition. Comprehensive genetic testing and increased public awareness are essential for MODY.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39361122"
-},
-{
- "id": "pmid:42070078",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42070078",
- "title": "Progressive Proximal Muscle Weakness Due to a 51 CAG Repeat Expansion in Exon 1 of the Androgen Receptor Gene: A Case Report of Kennedy Disease.",
- "type": "article-journal",
- "doi": "10.12659/ajcr.951080",
- "authors": [
- ["Nguyen", "Thi Tuong Vi"],
- ["Nguyen", "Huu Thanh"],
- ["Dong", "Thi Bien"],
- ["Nguyen", "Hong Quan"]
- ],
- "publisher": "The American journal of case reports",
- "issn": "1941-5923",
- "date": "2026-05-03",
- "abstract": "BACKGROUND Kennedy disease, also known as spinal and bulbar muscular atrophy (SBMA), is a rare and incurable X-linked neuromuscular disorder mainly affecting men aged 30 to 60 years. Polymyositis can present similarly, but can be excluded by measuring muscle enzymes, performing muscle imaging, and electromyography. This report describes the case of a 52-year-old man with a 10-year history of progressive limb weakness due to Kennedy disease, established by genetic testing. CASE REPORT A 52-year-old man presented with a 10-year history of gradually progressive proximal limb weakness and persistently elevated creatine kinase levels ranging from 808-2300 U/L (normal 39-308 U/L). One year prior to this admission, the limb weakness had worsened, but initial electromyography, neuroimaging, and muscle biopsy showed no specific abnormalities. Despite a trial of immunosuppressive therapy due to suspected polymyositis, there was no clinical improvement. Neurological examination later revealed gynecomastia, proximal muscle atrophy, and bilateral tongue atrophy with tremor. Electromyography showed chronic neurogenic changes and reduced sensory nerve action potentials. Repeat expansion analysis identified a hemizygous pathogenic CAG repeat expansion in exon 1 of the androgen receptor gene using a short-read next-generation sequencing-based repeat detection algorithm (ExpansionHunter), with an estimated repeat number of 51 (range 50-53). At 6-month follow-up, the patient demonstrated mild progression of motor symptoms but remained functionally stable. CONCLUSIONS This report presents a rare case of Kennedy disease, initially diagnosed as polymyositis, and highlights the importance of follow-up with genetic testing when neurological and electromyography investigations are not typical for polymyositis. Early identification of Kennedy disease helps avoid unnecessary immunosuppressive treatments.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42070078"
-},
-{
- "id": "pmid:42087256",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42087256",
- "title": "Targeting the integrated stress response or Ataxin-2 alleviates neurodegeneration in PolyGR models of C9orf72 associated frontotemporal dementia and amyotrophic lateral sclerosis.",
- "type": "article-journal",
- "doi": "10.1186/s40478-026-02301-2",
- "authors": [
- ["Nikki S", "Harper"],
- ["Joanne L", "Sharpe"],
- ["Jasmine", "Speranza"],
- ["Ravinder", "Gulia"],
- ["Jeffrey X", "Chen"],
- ["Scott P", "Allen"],
- ["Manpreet S", "Atwal"],
- ["Stuart", "Pickering-Brown"],
- ["Matthew R", "Livesey"],
- ["Craig L", "Bennett"],
- ["Andreas", "Prokop"],
- ["Albert R", "La Spada"],
- ["Ryan J H", "West"]
- ],
- "publisher": "Acta neuropathologica communications",
- "issn": "2051-5960",
- "date": "2026-05-05",
- "abstract": "Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal, early-onset neurodegenerative diseases. The most common genetic cause of FTD and ALS is a G4C2 hexanucleotide repeat expansion in the C9orf72 gene. This mutation leads to the production of toxic dipeptide repeat proteins (DPRs), via repeat-associated non-AUG (RAN) translation. These DPRs disrupt stress granule (SG) dynamics, with SG regulators such as Ataxin-2 (ATXN2) implicated in disease risk. The integrated stress response (ISR), a key driver of SG formation via eIF2\u03b1 phosphorylation, has been linked to C9orf72 expansions, but the role of individual DPRs in ISR activation remains unclear. Here, using Drosophila models expressing physiologically relevant repeat length DPRs, we identify poly(GR) as a novel activator of the ISR, inducing early and sustained eIF2\u03b1 phosphorylation and SG accumulation prior to motor decline. Genetic inhibition of the ISR or knockdown of ATX2, the Drosophila orthologue of ATXN2, rescues motor deficits in these models. ATXN2 knockdown also reduces poly(GR) toxicity in mouse primary neurons. These findings position poly(GR) as a key driver of ISR activation and highlight ATXN2 and the ISR as promising therapeutic targets in C9orf72-associated FTD/ALS.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42087256"
-},
-{
- "id": "pmid:41894686",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41894686",
- "title": "Dexamethasone prophylaxis for excessive lymphocyte expansion after cilta-cel in multiple myeloma.",
- "type": "article-journal",
- "doi": "10.1182/bloodadvances.2025018639",
- "authors": [
- ["Peter A", "Forsberg"],
- ["Jacqueline A", "Turner"],
- ["Marita", "Meyer"],
- ["Diana", "Abbott"],
- ["Sara", "Nicholson"],
- ["Henning", "Schade"],
- ["Jeffrey V", "Matous"],
- ["Tara", "Gregory"]
- ],
- "publisher": "Blood advances",
- "issn": "2473-9537",
- "date": "2026-03-27",
- "abstract": "Increased absolute lymphocyte count (ALC) appears to be a predictor of risk for both treatment-related mortality and atypical neurologic events among patients receiving chimeric antigen receptor (CAR)-T cell therapies for relapsed/refractory multiple myeloma. In this study we analyzed clinical outcomes of patients treated with the CAR-T cell therapy ciltacabtagene autoleucel (cilta-cel) at the Colorado Blood Cancer Institute, from September 2023 to January 2025. Baseline demographics, disease characteristics, and clinical data were collected before and after CAR-T therapy. Patients were stratified into 2 groups: pre-intervention (patients treated September 2023-July 2024) and intervention (patients treated August 2024-January 2025; those with ALC >5000/\u03bcL received 3 days of dexamethasone prophylaxis on first identification of elevated ALC). In the pre-intervention group, 9/30 patients had peak ALC >5000/\u03bcL; 5/9 (55.6%) experienced atypical neurologic events and all 5 died (post-cilta-cel-related complications). In the intervention group, 7/23 patients had peak ALC >5000/\u03bcL and received dexamethasone; 1/7 had an atypical neurologic event; and there was 1 death (infectious complication, 9 months post-treatment). Dexamethasone prophylaxis in patients with ALC >5000/\u03bcL resulted in rapid ALC reduction. Overall survival (OS) was significantly lower in pre-intervention patients with ALC >5000/\u03bcL compared with intervention patients with ALC >5000/\u03bcL and patients with ALC \u22645000/\u03bcL (P=.0013). ALC >5000/\u03bcL (vs ALC \u22645000/\u03bcL) was significantly associated with atypical neurologic events (odds ratio 6.8, P=.0157) and lower OS (hazard ratio 6.2, P=.0106). In conclusion, ALC >5000/\u03bcL after cilta-cel treatment predicted severe early neurologic events and high mortality risk. Dexamethasone prophylaxis demonstrated promise for risk mitigation.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41894686"
-},
-{
- "id": "pmid:41057236",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41057236",
- "title": "Routine Monitoring of CAR-T-Cells Expansion and Persistence in Patients With Aggressive Large B-Cell Lymphoma by Flow Cytometry: A Single-Center Experience.",
- "type": "article-journal",
- "doi": "10.1002/hon.70139",
- "authors": [
- ["Alexandra", "Zduniak"],
- ["J\u00e9r\u00e9mie", "Martinet"],
- ["Emilie", "L\u00e9v\u00eaque"],
- ["St\u00e9phanie", "Becker"],
- ["David", "Tonnelet"],
- ["Elodie Dos", "Santos"],
- ["Claire", "Leroy"],
- ["Mustafa", "Alani"],
- ["Jean", "Rouvet"],
- ["Marine", "Brousseau"],
- ["Camille", "Giverne"],
- ["Alexis", "Cuffel"],
- ["Serge", "Jacquot"],
- ["Arnaud", "Roucheux"],
- ["Alice", "Veuiller"],
- ["Nicolas", "Lecornu"],
- ["Misa Eugene", "Norbert"],
- ["Olivier", "Boyer"],
- ["Herv\u00e9", "Tilly"],
- ["Fabrice", "Jardin"],
- ["Jean-Baptiste", "Latouche"],
- ["Vincent", "Camus"]
- ],
- "publisher": "Hematological oncology",
- "issn": "1099-1069",
- "date": "2025-11-01",
- "abstract": "This retrospective, single-center study evaluated routine flow cytometry (FC) monitoring of CAR-T-cells in 45 patients with aggressive large B-cell lymphoma (LBCL). CAR-T-cells expansion was assessed from Day 0 to Month 12. Peak expansion occurred on Day 7 after axi-cel (median 39.3% of total lymphocytes; 87 cells/mm",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41057236"
-},
-{
- "id": "pmid:40840513",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/40840513",
- "title": "Early-onset diabetes with low utilization of lipid as an energy source carrying a rare missense mutation in the CEL gene.",
- "type": "article-journal",
- "doi": "10.1530/edm-24-0151",
- "authors": [
- ["Ayana", "Fujii"],
- ["Hiroko", "Nakabayashi"],
- ["Yuko", "Nagao"],
- ["Masaru", "Akiyama"],
- ["Akihiko", "Taguchi"],
- ["Kaito", "Yorimoto"],
- ["Risako", "Hamada"],
- ["Issei", "Saeki"],
- ["Naoki", "Yamamoto"],
- ["Taro", "Takami"],
- ["Kenji", "Watanabe"],
- ["Yoichi", "Mizukami"],
- ["Yasuharu", "Ohta"]
- ],
- "publisher": "Endocrinology, diabetes & metabolism case reports",
- "issn": "2052-0573",
- "date": "2025-08-18",
- "abstract": "Carboxyl ester lipase (CEL) is a major component of pancreatic juice and is responsible for the duodenal hydrolysis of cholesteryl esters. Maturity-onset diabetes of the young (MODY) is a form of diabetes mellitus characterized by early onset and dominant inheritance of beta-cell dysfunction. CEL gene mutations cause the type of MODY denoted as MODY8. Herein, we describe a Japanese patient who harbored a heterozygous A689P mutation in the variable number of tandem repeats (VNTRs)-containing exon 11 of the CEL gene. The patient was not obese and his diabetes was characterized by onset in late adolescence, impaired insulin secretion and metabolic dysfunction-associated steatotic liver disease (MASLD). The C-terminal region of CEL has been postulated to be critical for its secretion and activity. Therefore, the A689P mutation may cause pancreatic exocrine insufficiency and eventually contribute to MASLD, which is associated with reduced lipid catabolism. MODY8 is also considered to be a protein-misfolding disease because a heterozygous single nucleotide deletion causes the production of mutant CEL protein leading to diabetes and exocrine dysfunction. In the present case, MASLD and diabetes characterized by impaired insulin secretion were observed. The CEL A689P missense mutation will expand the known genotype-phenotype correlation in diabetes if it can be demonstrated that the variant is pathogenic.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40840513"
-},
-{
- "id": "pmid:40641008",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/40641008",
- "title": "Characterizing Cellular Expansion of Idecabtagene Vicleucel and Association with Clinical Efficacy and Safety in Patients with Triple-Class-Exposed Relapsed/Refractory Multiple Myeloma.",
- "type": "article-journal",
- "doi": "10.1002/jcph.70075",
- "authors": [
- ["Fan", "Wu"],
- ["Xirong", "Zheng"],
- ["Joseph", "Burnett"],
- ["Madhan", "Masilamani"],
- ["Wanying", "Zhang"],
- ["Xiaobo", "Zhong"],
- ["Andrea", "Caia"],
- ["Mark", "Cook"],
- ["Julia", "Piasecki"],
- ["Anna", "Kondic"],
- ["Manisha", "Lamba"],
- ["Jian", "Zhou"]
- ],
- "publisher": "Journal of clinical pharmacology",
- "issn": "1552-4604",
- "date": "2025-07-10",
- "abstract": "Idecabtagene vicleucel (ide-cel, ABECMA) is an autologous, B-cell maturation antigen-directed, chimeric antigen receptor (CAR) T-cell therapy, which has demonstrated significantly improved progression-free survival (PFS) and overall response rate (ORR) in patients with triple-class-exposed relapsed/refractory multiple myeloma (TCE RRMM). Here, we characterize cellular expansion of ide-cel in vivo and further evaluate associations between cellular expansion and clinical efficacy and safety endpoints. The exposure parameters of ide-cel were evaluated through non-compartmental analysis methods using the time course data of CAR transgene copy numbers collected from the ide-cel arm of Study KarMMa-3 (NCT03651128). Multivariable regression analyses were conducted between the exposure parameters and clinical responses to characterize relationships between cellular expansion in vivo and clinical outcomes and to evaluate potential effects of covariates on the exposure-response (E-R) relationships. There appears to be lack of a strong association between actual ide-cel dose and cellular expansion at the dose range evaluated in Study KarMMa-3. The multivariable E-R regression models suggest positive relationships between cellular expansion and clinical efficacy and safety endpoints, with higher exposure associated with longer PFS, higher ORR, and higher rates of cytokine release syndrome requiring tocilizumab or corticosteroids. The current analyses do not identify any clinically relevant covariate effects on the E-R relationships. The positive exposure-response relationships were found to be overall similar between KarMMa-3 and a previous study KarMMa. The modeling analyses, paired with clinical data, support extending the dose range from previously approved 300-460 \u00d7 10",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40641008"
-},
-{
- "id": "pmid:39710966",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39710966",
- "title": "Brexucabtagene autoleucel in-vivo expansion and BTKi refractoriness have a negative influence on progression-free survival in mantle cell lymphoma: Results from CART-SIE study.",
- "type": "article-journal",
- "doi": "10.1111/bjh.19961",
- "authors": [
- ["Federico", "Stella"],
- ["Annalisa", "Chiappella"],
- ["Martina", "Magni"],
- ["Francesca", "Bonifazi"],
- ["Chiara", "De Philippis"],
- ["Maurizio", "Musso"],
- ["Ilaria", "Cutini"],
- ["Silva", "Ljevar"],
- ["Anna Maria", "Barbui"],
- ["Mirko", "Farina"],
- ["Massimo", "Martino"],
- ["Massimo", "Massaia"],
- ["Giovanni", "Grillo"],
- ["Piera", "Angelillo"],
- ["Barbara", "Botto"],
- ["Francesca", "Patriarca"],
- ["Mauro", "Krampera"],
- ["Luca", "Arcaini"],
- ["Maria Chiara", "Tisi"],
- ["Pierluigi", "Zinzani"],
- ["Federica", "Sor\u00e0"],
- ["Stefania", "Bramanti"],
- ["Martina", "Pennisi"],
- ["Cristiana", "Carniti"],
- ["Paolo", "Corradini"]
- ],
- "publisher": "British journal of haematology",
- "issn": "1365-2141",
- "date": "2024-12-22",
- "abstract": "Brexucabtagene autoleucel (brexu-cel) has revolutionized the treatment of patients affected by mantle cell lymphomas. In this prospective, observational multicentre study, we evaluated 106 patients, with longitudinal brexu-cel kinetics in peripheral blood monitored in 61 of them. Clinical outcomes and toxicities are consistent with previous real-world evidence studies. Notably, beyond established poor prognostic factors-such as blastoid variant and elevated lactate dehydrogenase-Bruton tyrosine-kinase inhibitors (BTKi) refractoriness and platelet count emerged as significant predictors of survival. Specifically, the 1-year overall survival was 56% in BTKi-refractory patients compared to 92% in BTKi-relapsed patients (p\u2009=\u20090.0001). Our study also demonstrated that in-vivo monitoring of brexu-cel expansion is feasible and correlates with progression-free survival and toxicities. Progression-free survival at 1\u2009year was 74% in patients categorized as strong expanders, based on brexu-cel peak concentration, versus 54% in poor expanders (p\u2009=\u20090.02). Furthermore, in-vivo expansion helped identify a high-risk group of non-responders, those with progressive or stable disease at the 90-day post-infusion evaluation (OR\u2009=\u20094.7, 95% CI\u2009=\u20091.1-34, p\u2009=\u20090.04) characterized by dismal outcomes. When integrated with other clinical factors, monitoring brexu-cel expansion could assist in recognizing patients at high risk of early relapse.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39710966"
-},
-{
- "id": "pmid:38483348",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38483348",
- "title": "Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas.",
- "type": "article-journal",
- "doi": "10.1093/hmg/ddae034",
- "authors": [
- ["Ranveig S", "Brekke"],
- ["Anny", "Gravdal"],
- ["Khadija", "El Jellas"],
- ["Grace E", "Curry"],
- ["Jianguo", "Lin"],
- ["Steven J", "Wilhelm"],
- ["Solrun J", "Steine"],
- ["Eric", "Mas"],
- ["Stefan", "Johansson"],
- ["Mark E", "Lowe"],
- ["Bente B", "Johansson"],
- ["Xunjun", "Xiao"],
- ["Karianne", "Fjeld"],
- ["Anders", "Molven"]
- ],
- "publisher": "Human molecular genetics",
- "issn": "1460-2083",
- "date": "2024-05-18",
- "abstract": "The CEL gene encodes carboxyl ester lipase, a pancreatic digestive enzyme. CEL is extremely polymorphic due to a variable number tandem repeat (VNTR) located in the last exon. Single-base deletions within this VNTR cause the inherited disorder MODY8, whereas little is known about VNTR single-base insertions in pancreatic disease. We therefore mapped CEL insertion variants (CEL-INS) in 200 Norwegian patients with pancreatic neoplastic disorders. Twenty-eight samples (14.0%) carried CEL-INS alleles. Most common were insertions in repeat 9 (9.5%), which always associated with a VNTR length of 13 repeats. The combined INS allele frequency (0.078) was similar to that observed in a control material of 416 subjects (0.075). We performed functional testing in HEK293T cells of a set of CEL-INS variants, in which the insertion site varied from the first to the 12th VNTR repeat. Lipase activity showed little difference among the variants. However, CEL-INS variants with insertions occurring in the most proximal repeats led to protein aggregation and endoplasmic reticulum stress, which upregulated the unfolded protein response. Moreover, by using a CEL-INS-specific antibody, we observed patchy signals in pancreatic tissue from humans without any CEL-INS variant in the germline. Similar pancreatic staining was seen in knock-in mice expressing the most common human CEL VNTR with 16 repeats. CEL-INS proteins may therefore be constantly produced from somatic events in the normal pancreatic parenchyma. This observation along with the high population frequency of CEL-INS alleles strongly suggests that these variants are benign, with a possible exception for insertions in VNTR repeats 1-4.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38483348"
-},
-{
- "id": "pmid:38473919",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38473919",
- "title": "Unlocking Predictive Power: Quantitative Assessment of CAR-T Expansion with Digital Droplet Polymerase Chain Reaction (ddPCR).",
- "type": "article-journal",
- "doi": "10.3390/ijms25052673",
- "authors": [
- ["Eugenio", "Galli"],
- ["Marcello", "Viscovo"],
- ["Federica", "Fosso"],
- ["Ilaria", "Pansini"],
- ["Giacomo", "Di Cesare"],
- ["Camilla", "Iacovelli"],
- ["Elena", "Maiolo"],
- ["Federica", "Sor\u00e0"],
- ["Stefan", "Hohaus"],
- ["Simona", "Sica"],
- ["Silvia", "Bellesi"],
- ["Patrizia", "Chiusolo"]
- ],
- "publisher": "International journal of molecular sciences",
- "issn": "1422-0067",
- "date": "2024-02-26",
- "abstract": "Flow cytometry (FCM) and quantitative PCR (qPCR) are conventional methods for assessing CAR-T expansion, while digital droplet PCR (ddPCR) is emerging as a promising alternative. We monitored CAR-T transcript expansion in 40 B-NHL patients post-infusion of CAR-T products (axi-cel; tisa-cel; and brexu-cel) with both His-Tag FCM and ddPCR techniques. Sensitivity and predictive capacity for efficacy and safety outcomes of ddPCR were analyzed and compared with FCM. A significant correlation between CAR-T counts determined by FCM and CAR transcripts assessed by ddPCR (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38473919"
-},
-{
- "id": "pmid:38458477",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38458477",
- "title": "Early Chimeric Antigen Receptor T Cell Expansion Is Associated with Prolonged Progression-Free Survival for Patients with Relapsed/Refractory Multiple Myeloma Treated with Ide-Cel: A Retrospective Monocentric Study.",
- "type": "article-journal",
- "doi": "10.1016/j.jtct.2024.03.003",
- "authors": [
- ["Leo", "Caillot"],
- ["Emmanuel", "Sleiman"],
- ["Ingrid", "Lafon"],
- ["Marie-Lorraine", "Chretien"],
- ["Pauline", "Gueneau"],
- ["Alexandre", "Payssot"],
- ["Romain", "Pedri"],
- ["Daniela", "Lakomy"],
- ["Fran\u00e7ois", "Bailly"],
- ["Julien", "Guy"],
- ["Jean-Pierre", "Quenot"],
- ["Herve", "Avet-Loiseau"],
- ["Denis", "Caillot"]
- ],
- "publisher": "Transplantation and cellular therapy",
- "issn": "2666-6367",
- "date": "2024-03-07",
- "abstract": "The outcomes of patients with relapsed and refractory multiple myeloma (RRMM) previously treated with the 3 main classes of myeloma therapy-immunomodulatory drugs, proteasome inhibitors, and anti-CD38 antibodies-remain poor. Recently, based on the phase II pivotal KarMMa trial showing prolonged overall survival (OS) and progression-free survival (PFS) in heavily treated patients, idecabtagene vicleucel (ide-cel), a B cell maturation antigen (BCMA)-directed chimeric antigen receptor (CAR) T cell therapy (CAR-T) product, was approved in the United States for the treatment of RRMM. In France, since June 2021, an early access program has authorized the use of ide-cel in the setting of RRMM (defined as progressive myeloma after at least 3 previous regimens, including the 3 main antimyeloma therapies). We report the first French experience through this early access program in a retrospective study of 24 consecutive patients treated with ide-cel at our institution. The patients were evaluated according to International Myeloma Working Group criteria and by positron emission tomography computed tomography (PET-CT) at 1, 3, 6, 9, and 12 months after ide-cel infusion. Most patients had adverse cytogenetic abnormalities, and RRMM with triple-refractory drugs were seen in 79%. Bridging therapy was required for 19 of 24 patients. Before CAR-T cell infusion, lymphodepletion with fludarabine and cyclophosphamide was systematically performed. The median follow-up was 15.2 months. At 3 months after ide-cel infusion, 92% of patients achieved at least a partial response, and 50% achieved a complete response or better (\u2265CR). At 6 months, 70% of patients had a persistent \u2265CR. At 3 and 6 months, bone marrow minimal residual disease (10",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38458477"
-},
-{
- "id": "pmid:36379850",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36379850",
- "title": "The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice.",
- "type": "article-journal",
- "doi": "10.1016/j.pan.2022.11.003",
- "authors": [
- ["Karianne", "Fjeld"],
- ["Anny", "Gravdal"],
- ["Ranveig S", "Brekke"],
- ["Jahedul", "Alam"],
- ["Steven J", "Wilhelm"],
- ["Khadija", "El Jellas"],
- ["Helene N", "Pettersen"],
- ["Jianguo", "Lin"],
- ["Marie H", "Solheim"],
- ["Solrun J", "Steine"],
- ["Bente B", "Johansson"],
- ["P\u00e5l R", "Nj\u00f8lstad"],
- ["Caroline S", "Verbeke"],
- ["Xunjun", "Xiao"],
- ["Mark E", "Lowe"],
- ["Anders", "Molven"]
- ],
- "publisher": "Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]",
- "issn": "1424-3911",
- "date": "2022-11-09",
- "abstract": "The CEL gene encodes the digestive enzyme carboxyl ester lipase. CEL-HYB1, a hybrid allele of CEL and its adjacent pseudogene CELP, is a genetic variant suggested to increase the risk of chronic pancreatitis (CP). Our aim was to develop a mouse model for CEL-HYB1 that enables studies of pancreatic disease mechanisms.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36379850"
-},
-{
- "id": "pmid:35583610",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35583610",
- "title": "Phenotypic Composition of Commercial Anti-CD19 CAR T Cells Affects In Vivo Expansion and Disease Response in Patients with Large B-cell Lymphoma.",
- "type": "article-journal",
- "doi": "10.1158/1078-0432.ccr-22-0164",
- "authors": [
- ["Chiara", "Monfrini"],
- ["Federico", "Stella"],
- ["Vanessa", "Aragona"],
- ["Martina", "Magni"],
- ["Silva", "Ljevar"],
- ["Cristina", "Vella"],
- ["Eugenio", "Fardella"],
- ["Annalisa", "Chiappella"],
- ["Francesca", "Nanetti"],
- ["Martina", "Pennisi"],
- ["Anna", "Dodero"],
- ["Anna", "Guidetti"],
- ["Paolo", "Corradini"],
- ["Cristiana", "Carniti"]
- ],
- "publisher": "Clinical cancer research : an official journal of the American Association for Cancer Research",
- "issn": "1557-3265",
- "date": "2022-08-02",
- "abstract": "In clinical trials, the expansion and persistence of chimeric antigen receptor (CAR) T cells correlate with therapeutic efficacy. However, properties of CAR T cells that enable their in vivo proliferation have still to be consistently defined and the role of CAR T bag content has never been investigated in a real-life setting.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35583610"
-},
-{
- "id": "pmid:35215948",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35215948",
- "title": "High Phenotypic Variation between an In Vitro-Passaged Fowl Adenovirus Serotype 1 (FAdV-1) and Its Virulent Progenitor Strain despite Almost Complete Sequence Identity of the Whole Genomes.",
- "type": "article-journal",
- "doi": "10.3390/v14020358",
- "authors": [
- ["Beatrice", "Grafl"],
- ["Anna", "Schachner"],
- ["Michael", "Hess"]
- ],
- "publisher": "Viruses",
- "issn": "1999-4915",
- "date": "2022-02-09",
- "abstract": "Adenoviral gizzard erosion is an emerging disease with negative impact on health and production of chickens. In this study, we compared in vitro and in vivo characteristics of a fowl adenovirus serotype 1 (FAdV-1), attenuated by 53 consecutive passages in primary chicken embryo liver (CEL) cell cultures (11/7127-AT), with the virulent strain (11/7127-VT). Whole genome analysis revealed near-complete sequence identity between the strains. However, a length polymorphism in a non-coding adenine repeat sequence (11/7127-AT: 11 instead of 9) immediately downstream of the hexon open reading frame was revealed. One-step growth kinetics showed delayed multiplication of 11/7127-AT together with significantly lower titers in cell culture (up to 4 log",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35215948"
-},
-{
- "id": "pmid:35156195",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35156195",
- "title": "In Vivo Cellular Expansion of Lisocabtagene Maraleucel and Association With Efficacy and Safety in Relapsed/Refractory Large B-Cell Lymphoma.",
- "type": "article-journal",
- "doi": "10.1002/cpt.2561",
- "authors": [
- ["Ken", "Ogasawara"],
- ["James", "Lymp"],
- ["Timothy", "Mack"],
- ["Justine", "Dell'Aringa"],
- ["Chang-Pin", "Huang"],
- ["Jeff", "Smith"],
- ["Leanne", "Peiser"],
- ["Ana", "Kostic"]
- ],
- "publisher": "Clinical pharmacology and therapeutics",
- "issn": "1532-6535",
- "date": "2022-03-20",
- "abstract": "Lisocabtagene maraleucel (liso-cel) is an autologous, CD19-directed, chimeric antigen receptor T-cell product for the treatment of adult patients with relapsed or refractory large B-cell lymphoma (LBCL) after 2 or more lines of systemic therapy. In vivo cellular expansion after single-dose administration of liso-cel has been characterized. In this article, in vivo liso-cel expansion in the pivotal study TRANSCEND NHL 001 (ClinicalTrials.gov identifier, NCT02631044) was further characterized to assess the relationship between in vivo cellular expansion after single-dose administration of liso-cel and efficacy or safety after adjusting for key baseline characteristics. Two bioanalytical methods, quantitative polymerase chain reaction and flow cytometry, were used for the assessment of cellular kinetics of liso-cel, which showed high concordance for in vivo cellular expansion. Multivariable logistic regression analyses demonstrated that higher in vivo cellular expansion of liso-cel was associated with a higher overall response and complete response rate, and a higher incidence of cytokine release syndrome and neurological events in patients with relapsed or refractory LBCL. Age and tumor burden (by sum of the product of perpendicular diameters) were likely to confound the relationship between in vivo cellular expansion and efficacy, where the association became stronger after controlling for these factors. Repeat dosing of liso-cel was tested in the study; however, in vivo cellular expansion of liso-cel was lower after repeat dosing than after the initial dose. These findings should enable a comprehensive understanding of the in vivo cellular kinetics of liso-cel and the association with outcomes in relapsed/refractory LBCL.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35156195"
-},
-{
- "id": "pmid:35082198",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35082198",
- "title": "Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes.",
- "type": "article-journal",
- "doi": "10.1620/tjem.256.37",
- "authors": [
- ["Tomomi", "Kondoh"],
- ["Yoko", "Nakajima"],
- ["Katsuyuki", "Yokoi"],
- ["Yuji", "Matsumoto"],
- ["Hidehito", "Inagaki"],
- ["Takema", "Kato"],
- ["Yoichi", "Nakajima"],
- ["Tetsuya", "Ito"],
- ["Tetsushi", "Yoshikawa"],
- ["Hiroki", "Kurahashi"]
- ],
- "publisher": "The Tohoku journal of experimental medicine",
- "issn": "1349-3329",
- "date": "2022-01-01",
- "abstract": "Maturity-onset diabetes of the young (MODY) is a form of diabetes mellitus characterized by autosomal dominant inheritance, early onset, and the absence of pancreatic autoimmune markers. MODY-causing mutations have been identified in 14 genes, and carboxyl ester lipase (CEL) has been implicated in MODY8. We report a Japanese patient with MODY who harbored a heterogeneous mutation in CEL exon 2 (NM_001807.4:c.146_147delCT; NP_001798.2:p.Ser49CysfsTer52). A 13-year-old girl experienced her first episode of diabetic ketoacidosis, during which her endogenous insulin secretion was poor. However, her insulin secretion had apparently recovered 2 months after the commencement of insulin treatment, and no further treatment was required for the following 2 years. Diabetic ketoacidosis recurred when the patient was 15 years old, when her insulin secretion was again poor. Since that time, the patient, who is now 18 years old, has been undergoing continuous insulin treatment. The large fluctuations in her insulin secretory capacity led us to suspect MODY. MODY8 patients that carry a mutation in the variable number of tandem repeats in the last exon of the CEL gene typically show pancreatic exocrine dysfunction. However, in the present case, which features premature termination, there is no involvement of exocrine dysfunction, potentially demonstrating a genotype-phenotype correlation.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35082198"
-},
-{
- "id": "pmid:34850019",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34850019",
- "title": "Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases.",
- "type": "article-journal",
- "doi": "10.1210/clinem/dgab864",
- "authors": [
- ["Khadija", "El Jellas"],
- ["Petra", "Du\u0161\u00e1tkov\u00e1"],
- ["Ingfrid S", "Haldorsen"],
- ["Janne", "Molnes"],
- ["Erling", "Tjora"],
- ["Bente B", "Johansson"],
- ["Karianne", "Fjeld"],
- ["Stefan", "Johansson"],
- ["\u0160t\u011bp\u00e1nka", "Pr\u016fhov\u00e1"],
- ["Leif", "Groop"],
- ["J Matthias", "L\u00f6hr"],
- ["P\u00e5l R", "Nj\u00f8lstad"],
- ["Anders", "Molven"]
- ],
- "publisher": "The Journal of clinical endocrinology and metabolism",
- "issn": "1945-7197",
- "date": "2022-03-24",
- "abstract": "Maturity onset diabetes of the young, type 8 (MODY8) is associated with mutations in the CEL gene, which encodes the digestive enzyme carboxyl ester lipase. Several diabetes cases and families have in recent years been attributed to mutations in CEL without any functional or clinical evidence provided.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34850019"
-},
-{
- "id": "pmid:34507899",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34507899",
- "title": "Homozygosity of short VNTR lengths in the CEL gene may confer susceptibility to idiopathic chronic pancreatitis.",
- "type": "article-journal",
- "doi": "10.1016/j.pan.2021.09.001",
- "authors": [
- ["Xiao-Tong", "Mao"],
- ["Shun-Jiang", "Deng"],
- ["Rui-Lin", "Kang"],
- ["Yuan-Chen", "Wang"],
- ["Zhao-Shen", "Li"],
- ["Wen-Bin", "Zou"],
- ["Zhuan", "Liao"]
- ],
- "publisher": "Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]",
- "issn": "1424-3911",
- "date": "2021-09-04",
- "abstract": "The carboxyl-ester lipase (CEL) gene contains a variable number of tandem repeats (VNTR) region. It remains unclear whether the number of repeats in the CEL VNTR is related to the risk of pancreatic diseases. The aim of this study was to investigate whether CEL VNTR length is associated with idiopathic chronic pancreatitis (ICP), alcoholic chronic pancreatitis (ACP), or pancreatic cancer in a cohort of Chinese patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34507899"
-},
-{
- "id": "pmid:34100900",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34100900",
- "title": "Axicabtagene ciloleucel in vivo expansion and treatment outcome in aggressive B-cell lymphoma in a real-world setting.",
- "type": "article-journal",
- "doi": "10.1182/bloodadvances.2020003959",
- "authors": [
- ["Francis A", "Ayuk"],
- ["Carolina", "Berger"],
- ["Anita", "Badbaran"],
- ["Tatjana", "Zabelina"],
- ["Tanja", "Sonntag"],
- ["Kristoffer", "Riecken"],
- ["Maria", "Geffken"],
- ["Dominic", "Wichmann"],
- ["Christian", "Frenzel"],
- ["Guenther", "Thayssen"],
- ["Silke", "Zeschke"],
- ["Nicolaus", "Kr\u00f6ger"],
- ["Boris", "Fehse"]
- ],
- "publisher": "Blood advances",
- "issn": "2473-9537",
- "date": "2021-06-08",
- "abstract": "Data on the association between chimeric antigen receptor (CAR)-T-cell kinetics and patient outcome in the nontrial setting are missing, mainly due to the lack of broadly available CAR-T-cell diagnostic quantification tools. We performed prospective quantification of axicabtagene ciloleucel (axi-cel) in 21 patients treated for aggressive B-cell lymphoma at our clinic. Median peak CAR-T-cell count was 16.14 CAR-T cells/\u00b5L. Patients with 16.14/\u03bcL or higher peak CAR-T cells (strong expanders) had more day-30 objective responses (91% vs 40%, P = .02). In univariate analysis, peak CAR-T cell \u2265 16.14 (P < .001), normal platelet counts at start of lymphodepletion (P < .001), no prior stem cell transplant (P = .04), and peak CAR-T cells as continuous variable (P = .03) were associated with better progression-free survival (PFS). After adjusting for platelet counts and prior stem cell transplantation, peak CAR-T cells below median was still associated with shorter PFS (relative risk, 0.15, 95% confidence interval, 0.04-0.59, P = .007). Low platelet counts also maintained significant impact on PFS. Our data demonstrate association of axi-cel levels and outcome in a nontrial setting and for the first time use a cutoff to segregate weak and strong expanders with respective outcomes.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34100900"
-},
-{
- "id": "pmid:33862081",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33862081",
- "title": "The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity.",
- "type": "article-journal",
- "doi": "10.1016/j.jbc.2021.100661",
- "authors": [
- ["Anny", "Gravdal"],
- ["Xunjun", "Xiao"],
- ["Miriam", "Cnop"],
- ["Khadija", "El Jellas"],
- ["Stefan", "Johansson"],
- ["P\u00e5l R", "Nj\u00f8lstad"],
- ["Mark E", "Lowe"],
- ["Bente B", "Johansson"],
- ["Anders", "Molven"],
- ["Karianne", "Fjeld"]
- ],
- "publisher": "The Journal of biological chemistry",
- "issn": "1083-351X",
- "date": "2021-04-14",
- "abstract": "Variable number of tandem repeat (VNTR) sequences in the genome can have functional consequences that contribute to human disease. This is the case for the CEL gene, which is specifically expressed in pancreatic acinar cells and encodes the digestive enzyme carboxyl ester lipase. Rare single-base deletions (DELs) within the first (DEL1) or fourth (DEL4) VNTR segment of CEL cause maturity-onset diabetes of the young, type 8 (MODY8), an inherited disorder characterized by exocrine pancreatic dysfunction and diabetes. Studies on the DEL1 variant have suggested that MODY8 is initiated by CEL protein misfolding and aggregation. However, it is unclear how the position of single-base deletions within the CEL VNTR affects pathogenic properties of the protein. Here, we investigated four naturally occurring CEL variants, arising from single-base deletions in different VNTR segments (DEL1, DEL4, DEL9, and DEL13). When the four variants were expressed in human embryonic kidney 293 cells, only DEL1 and DEL4 led to significantly reduced secretion, increased intracellular aggregation, and increased endoplasmic reticulum stress compared with normal CEL protein. The level of O-glycosylation was affected in all DEL variants. Moreover, all variants had enzymatic activity comparable with that of normal CEL. We conclude that the longest aberrant protein tails, resulting from single-base deletions in the proximal VNTR segments, have highest pathogenic potential, explaining why DEL1 and DEL4 but not DEL9 and DEL13 have been observed in patients with MODY8. These findings further support the view that CEL mutations cause pancreatic disease through protein misfolding and proteotoxicity, leading to endoplasmic reticulum stress and activation of the unfolded protein response.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33862081"
-},
-{
- "id": "pmid:27802312",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27802312",
- "title": "Length of Variable Numbers of Tandem Repeats in the Carboxyl Ester Lipase (CEL) Gene May Confer Susceptibility to Alcoholic Liver Cirrhosis but Not Alcoholic Chronic Pancreatitis.",
- "type": "article-journal",
- "doi": "10.1371/journal.pone.0165567",
- "authors": [
- ["Karianne", "Fjeld"],
- ["Sebastian", "Beer"],
- ["Marianne", "Johnstone"],
- ["Constantin", "Zimmer"],
- ["Joachim", "M\u00f6ssner"],
- ["Claudia", "Ruffert"],
- ["Mario", "Krehan"],
- ["Christian", "Zapf"],
- ["P\u00e5l Rasmus", "Nj\u00f8lstad"],
- ["Stefan", "Johansson"],
- ["Peter", "Bugert"],
- ["Fabio", "Miyajima"],
- ["Triantafillos", "Liloglou"],
- ["Laura J", "Brown"],
- ["Simon A", "Winn"],
- ["Kelly", "Davies"],
- ["Diane", "Latawiec"],
- ["Bridget K", "Gunson"],
- ["David N", "Criddle"],
- ["Munir", "Pirmohamed"],
- ["Robert", "Gr\u00fctzmann"],
- ["Patrick", "Michl"],
- ["William", "Greenhalf"],
- ["Anders", "Molven"],
- ["Robert", "Sutton"],
- ["Jonas", "Rosendahl"]
- ],
- "publisher": "PloS one",
- "issn": "1932-6203",
- "date": "2016-11-01",
- "abstract": "Carboxyl-ester lipase (CEL) contributes to fatty acid ethyl ester metabolism, which is implicated in alcoholic pancreatitis. The CEL gene harbours a variable number of tandem repeats (VNTR) region in exon 11. Variation in this VNTR has been linked to monogenic pancreatic disease, while conflicting results were reported for chronic pancreatitis (CP). Here, we aimed to investigate a potential association of CEL VNTR lengths with alcoholic CP.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27802312"
-},
-{
- "id": "pmid:27650499",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27650499",
- "title": "A Carboxyl Ester Lipase (CEL) Mutant Causes Chronic Pancreatitis by Forming Intracellular Aggregates That Activate Apoptosis.",
- "type": "article-journal",
- "doi": "10.1074/jbc.m116.734384",
- "authors": [
- ["Xunjun", "Xiao"],
- ["Gabrielle", "Jones"],
- ["Wednesday A", "Sevilla"],
- ["Donna B", "Stolz"],
- ["Kelsey E", "Magee"],
- ["Margaret", "Haughney"],
- ["Amitava", "Mukherjee"],
- ["Yan", "Wang"],
- ["Mark E", "Lowe"]
- ],
- "publisher": "The Journal of biological chemistry",
- "issn": "1083-351X",
- "date": "2016-09-20",
- "abstract": "Patients with chronic pancreatitis (CP) frequently have genetic risk factors for disease. Many of the identified genes have been connected to trypsinogen activation or trypsin inactivation. The description of CP in patients with mutations in the variable number of tandem repeat (VNTR) domain of carboxyl ester lipase (CEL) presents an opportunity to study the pathogenesis of CP independently of trypsin pathways. We tested the hypothesis that a deletion and frameshift mutation (C563fsX673) in the CEL VNTR causes CP through proteotoxic gain-of-function activation of maladaptive cell signaling pathways including cell death pathways. HEK293 or AR42J cells were transfected with constructs expressing CEL with 14 repeats in the VNTR (CEL14R) or C563fsX673 CEL (CEL maturity onset diabetes of youth with a deletion mutation in the VNTR (MODY)). In both cell types, CEL MODY formed intracellular aggregates. Secretion of CEL MODY was decreased compared with that of CEL14R. Expression of CEL MODY increased endoplasmic reticulum stress, activated the unfolded protein response, and caused cell death by apoptosis. Our results demonstrate that disorders of protein homeostasis can lead to CP and suggest that novel therapies to decrease the intracellular accumulation of misfolded protein may be successful in some patients with CP.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27650499"
-},
-{
- "id": "pmid:27773618",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27773618",
- "title": "Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer.",
- "type": "article-journal",
- "doi": "10.1016/j.pan.2016.10.006",
- "authors": [
- ["Monica", "Dalva"],
- ["Khadija", "El Jellas"],
- ["Solrun J", "Steine"],
- ["Bente B", "Johansson"],
- ["Monika", "Ringdal"],
- ["Janniche", "Torsvik"],
- ["Heike", "Immervoll"],
- ["Dag", "Hoem"],
- ["Felix", "Laemmerhirt"],
- ["Peter", "Simon"],
- ["Markus M", "Lerch"],
- ["Stefan", "Johansson"],
- ["P\u00e5l R", "Nj\u00f8lstad"],
- ["Frank U", "Weiss"],
- ["Karianne", "Fjeld"],
- ["Anders", "Molven"]
- ],
- "publisher": "Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]",
- "issn": "1424-3911",
- "date": "2016-10-11",
- "abstract": "We have recently described copy number variants (CNVs) of the human carboxyl-ester lipase (CEL) gene, including a recombined deletion allele (CEL-HYB) that is a genetic risk factor for chronic pancreatitis. Associations with pancreatic disease have also been reported for the variable number of tandem repeat (VNTR) region located in CEL exon 11. Here, we examined if CEL CNVs and VNTR length polymorphisms affect the risk for developing pancreatic cancer.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27773618"
-},
-{
- "id": "pmid:23395566",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/23395566",
- "title": "The number of tandem repeats in the carboxyl-ester lipase (CEL) gene as a risk factor in alcoholic and idiopathic chronic pancreatitis.",
- "type": "article-journal",
- "doi": "10.1016/j.pan.2012.12.059",
- "authors": [
- ["Anja", "Ragvin"],
- ["Karianne", "Fjeld"],
- ["F Ulrich", "Weiss"],
- ["Janniche", "Torsvik"],
- ["Ali", "Aghdassi"],
- ["Julia", "Mayerle"],
- ["Peter", "Simon"],
- ["P\u00e5l R", "Nj\u00f8lstad"],
- ["Markus M", "Lerch"],
- ["Stefan", "Johansson"],
- ["Anders", "Molven"]
- ],
- "publisher": "Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]",
- "issn": "1424-3911",
- "date": "2012-12-20",
- "abstract": "The variable number of tandem repeats (VNTR) in the last exon of the carboxyl-ester lipase (CEL) gene has been reported to associate with alcohol-induced chronic pancreatitis (ACP) in a Japanese study. Here, we have investigated the association between the number of CEL VNTR repeats and ACP or idiopathic chronic pancreatitis (ICP) in a cohort of German patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23395566"
-},
-{
- "id": "pmid:21784842",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21784842",
- "title": "Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease.",
- "type": "article-journal",
- "doi": "10.1074/jbc.m111.222679",
- "authors": [
- ["Bente B", "Johansson"],
- ["Janniche", "Torsvik"],
- ["Lise", "Bj\u00f8rkhaug"],
- ["Mette", "Vesterhus"],
- ["Anja", "Ragvin"],
- ["Erling", "Tjora"],
- ["Karianne", "Fjeld"],
- ["Dag", "Hoem"],
- ["Stefan", "Johansson"],
- ["Helge", "R\u00e6der"],
- ["Susanne", "Lindquist"],
- ["Olle", "Hernell"],
- ["Miriam", "Cnop"],
- ["Jaakko", "Saraste"],
- ["Torgeir", "Flatmark"],
- ["Anders", "Molven"],
- ["P\u00e5l R", "Nj\u00f8lstad"]
- ],
- "publisher": "The Journal of biological chemistry",
- "issn": "1083-351X",
- "date": "2011-07-22",
- "abstract": "CEL-maturity onset diabetes of the young (MODY), diabetes with pancreatic lipomatosis and exocrine dysfunction, is due to dominant frameshift mutations in the acinar cell carboxyl ester lipase gene (CEL). As Cel knock-out mice do not express the phenotype and the mutant protein has an altered and intrinsically disordered tandem repeat domain, we hypothesized that the disease mechanism might involve a negative effect of the mutant protein. In silico analysis showed that the pI of the tandem repeat was markedly increased from pH 3.3 in wild-type (WT) to 11.8 in mutant (MUT) human CEL. By stably overexpressing CEL-WT and CEL-MUT in HEK293 cells, we found similar glycosylation, ubiquitination, constitutive secretion, and quality control of the two proteins. The CEL-MUT protein demonstrated, however, a high propensity to form aggregates found intracellularly and extracellularly. Different physicochemical properties of the intrinsically disordered tandem repeat domains of WT and MUT proteins may contribute to different short and long range interactions with the globular core domain and other macromolecules, including cell membranes. Thus, we propose that CEL-MODY is a protein misfolding disease caused by a negative gain-of-function effect of the mutant proteins in pancreatic tissues.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21784842"
-},
-{
- "id": "pmid:15841033",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/15841033",
- "title": "Carboxylester lipase gene polymorphism as a risk of alcohol-induced pancreatitis.",
- "type": "article-journal",
- "doi": "10.1097/01.mpa.0000160960.21580.ml",
- "authors": [
- ["Kyoko", "Miyasaka"],
- ["Minoru", "Ohta"],
- ["Saeko", "Takano"],
- ["Hiroshi", "Hayashi"],
- ["Susumu", "Higuchi"],
- ["Katsuya", "Maruyama"],
- ["Yusuke", "Tando"],
- ["Teruo", "Nakamura"],
- ["Yutaka", "Takata"],
- ["Akihiro", "Funakoshi"]
- ],
- "publisher": "Pancreas",
- "issn": "1536-4828",
- "date": "2005-05-01",
- "abstract": "Alcohol abuse causes pancreatic damage in humans. However, only 5% of alcoholic patients have a clinical manifestation of pancreatitis, and the genetic predisposition of alcohol-associated pancreatitis remains elusive. Nonoxidative metabolites of ethanol, fatty acid ethyl esters (FAEEs), might play an important role in pancreatic damage. Carboxylester lipase (CEL) has been known to catalyze FAEE synthesis from fatty acids and ethanol.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15841033"
-},
-{
- "id": "pmid:42003432",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42003432",
- "title": "Distinct cellular effects of myotonic dystrophy type 2 RAN tetrapeptides in Drosophila melanogaster.",
- "type": "article-journal",
- "doi": "10.1242/dmm.052729",
- "authors": [
- ["Marta", "Marzullo"],
- ["Assia", "De Simone"],
- ["Marta", "Terribili"],
- ["Michela", "Di Salvio"],
- ["Degisew Yinur", "Mengistu"],
- ["Maria Patrizia", "Somma"],
- ["Rodrigo", "D'Amico"],
- ["Gianluca", "Canettieri"],
- ["Gianluca", "Cestra"],
- ["Laura", "Ciapponi"]
- ],
- "publisher": "Disease models & mechanisms",
- "issn": "1754-8411",
- "date": "2026-04-20",
- "abstract": "Myotonic dystrophy type 2 (DM2) is an autosomal dominant, multisystemic disorder caused by the expansion of CCTG repeats in the first intron of the CNBP gene. Repeat-associated non-AUG (RAN) translation of the expanded CCTG RNA generates two tetrapeptide repeat proteins (TPRs), polyQAGR and polyLPAC, whose roles in DM2 pathogenesis remain unclear. To define their individual contributions, we expressed codon-optimized polyQAGR and polyLPAC peptides with an ATG start codon in Drosophila melanogaster. Expression of both TPRs reduced viability and lifespan and induced eye degeneration and locomotor defects. We found that polyQAGR accumulated in the nucleolus, disrupted nucleolar integrity, and impaired rRNA processing. It also interfered with autophagy, promoting Atg5 and Atg7 transcription and accumulation of Atg8a- and Ref(2)P-positive aggregates. Consistently, overexpression of Atg8a or Ref(2)P mitigated polyQAGR-induced eye toxicity, whereas knockdown of autophagy genes worsened it. Conversely, polyLPAC increase the cytoplasmic pool of TIAR in human cells and in DM2 patient-derived myoblasts. Together, these findings show that polyQAGR and polyLPAC exert distinct toxic effects that likely converge to drive DM2 pathogenesis and may represent promising therapeutic targets.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42003432"
-},
-{
- "id": "pmid:42083296",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42083296",
- "title": "Genome Sequencing for the Diagnosis of Rare Disorders: The Brazilian Rare Genomes Project.",
- "type": "article-journal",
- "doi": "10.1016/j.xhgg.2026.100624",
- "authors": [
- ["Antonio Victor", "Campos Coelho"],
- ["Rafael", "Sales de Albuquerque"],
- ["Catarina Dos Santos", "Gomes"],
- ["Jos\u00e9", "Bandeira do Nascimento Junior"],
- ["Gustavo", "Santos de Oliveira"],
- ["Livia Maria", "Silva Moura"],
- ["Luciana Souto", "Mofatto"],
- ["Rafael Lucas", "Muniz Guedes"],
- ["Rodrigo Ara\u00fajo", "Sequeira Barreiro"],
- ["Marcel Pinheiro", "Caraciolo"],
- ["Ana", "Paula de Andrade Oliveira"],
- ["Anne Caroline", "Barbosa Teixeira"],
- ["Bruna Mascaro", "Cordeiro de Azevedo"],
- ["Carolina Dias", "Carlos"],
- ["Lucas", "Santos de Santana"],
- ["Marina", "Cadena da Matta"],
- ["Matheus Martinelli", "Lima"],
- ["Nuria Bengala", "Zurro"],
- ["Renata Yoshiko", "Yamada"],
- ["Vivian Pedigone", "Cintra"],
- ["Gabriela Pereira", "Campilongo"],
- ["Gabriela Borges", "Cherulli Colichio"],
- ["Renata Martins", "Ribeiro da Silva"],
- ["Caio Robledo", "D'Angioli Costa Quaio"],
- ["Carolina Araujo", "Moreno"],
- ["Eduardo", "Perrone"],
- ["J\u00e9ssica Grasiela", "Ara\u00fajo Espolaor"],
- ["Joana Rosa", "Marques Prota"],
- ["Jos\u00e9 Ricardo", "Magliocco Ceroni"],
- ["Kelin", "Chen"],
- ["Luiza do Amaral", "Virmond"],
- ["Marina", "de Fran\u00e7a Basto Silva"],
- ["Michele Patricia", "Migliavacca"],
- ["Renata Moldenhauer", "Minillo"],
- ["Thiago Yoshinaga", "Tonholo Silva"],
- ["Karla", "de Oliveira Pelegrino"],
- ["Ana Luiza", "Garcia Cunha"],
- ["Joziele", "de Souza Lima"],
- ["Anete Sevciovic", "Grumach"],
- ["Caio Parente", "Barbosa"],
- ["Angelina Xavier", "Acosta"],
- ["Paula Brito", "Corr\u00eaa"],
- ["Denise Pontes", "Cavalcanti"],
- ["Carlos Eduardo", "Steiner"],
- ["Erlane Marques", "Ribeiro"],
- ["Wallace", "William da Silva Meireles"],
- ["Giselle Maria", "Araujo Felix Adjuto"],
- ["Ida Vanessa", "Doederlein Schwartz"],
- ["T\u00eamis Maria", "Felix"],
- ["Irma Cecilia", "Douglas Paes Barreto"],
- ["Antonette", "Souto El Husny"],
- ["Jussara", "Melo de Cerqueira Maia"],
- ["Vera Maria", "Dantas"],
- ["L\u00facia", "Helena de Oliveira Cordeiro"],
- ["Luiza Zagne", "Braz"],
- ["Magda Maria", "Sales Carneiro Sampaio"],
- ["Mara Lucia", "Schmitz Ferreira Santos"],
- ["Marco Antonio", "Curiati"],
- ["Maria", "Teresinha de Oliveira Cardoso"],
- ["Maria Teresa", "Alves da Silva Rosa"],
- ["Mariana Paes", "Leme Ferriani"],
- ["Ester Silveira", "Ramos"],
- ["Paula Teixeira", "Lyra"],
- ["Raquel Tavares", "Boy da Silva"],
- ["Anna C\u00e2ndida", "Ximenes de Mendon\u00e7a Sobreira"],
- ["Tatiana Regia", "Suzana Amorim Boa Sorte"],
- ["Melissa Rossi", "Calv\u00e3o Dumas"],
- ["Tha\u00eds Bomfim", "Teixeira"],
- ["Vandr\u00e9 Cabral", "Gomes Carneiro"],
- ["Patr\u00edcia Silva", "Mota"],
- ["Tatiana", "Ferreira de Almeida"],
- ["Jo\u00e3o Bosco", "Oliveira"]
- ],
- "publisher": "HGG advances",
- "issn": "2666-2477",
- "date": "2026-05-04",
- "abstract": "Genome Sequencing (GS) has emerged as a transformative tool in the diagnosis of rare diseases with complex phenotypes. This technology uncovers structural, intronic, non-coding, and mitochondrial variants that traditional methods might miss, thus facilitating the understanding of the underlying genomic basis of human disorders. We enrolled 10305 patients with suspected rare diseases or hereditary cancer risk syndromes from 21 centers throughout Brazil. Their genomes were sequenced with short, paired-end reads, and diagnostic reports were provided for 9448 of these patients. The overall diagnostic yield was 35.6%, and 4.6% of all positive reports had GS-exclusive findings (e.g. short copy number variants overlapping fewer than three exons, deep intronic variants, short tandem repeats expansions, mitochondrial structural variants - usually not detected by other diagnostic tests such as exome sequencing). Preliminary analysis of transcriptome sequencing (TS) or long-read GS combined with the GS interpretation provided a small but welcome improvement in diagnostic yield (0.1% and 1.0% of positive reports, respectively). Almost 3200 variant/phenotype interpretations were submitted to ClinVar. GS is proving to be an invaluable resource for shortening the diagnostic odyssey of patients with rare diseases, providing crucial genomic diagnostics, and enriching genetic databases with variant interpretations from underrepresented populations. Therefore, GS has the potential to significantly enhance the precision of healthcare in genetically diverse populations.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42083296"
-},
-{
- "id": "pmid:39868092",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39868092",
- "title": "Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity.",
- "type": "article-journal",
- "doi": "10.1101/2025.01.06.631535",
- "authors": [
- ["Matt C", "Danzi"],
- ["Isaac R L", "Xu"],
- ["Sarah", "Fazal"],
- ["Egor", "Dolzhenko"],
- ["David", "Pellerin"],
- ["Ben", "Weisburd"],
- ["Chloe", "Reuter"],
- ["Jacinda", "Sampson"],
- ["Chiara", "Folland"],
- ["Matthew", "Wheeler"],
- ["Anne", "O'Donnell-Luria"],
- ["Stefan", "Wuchty"],
- ["Gianina", "Ravenscroft"],
- ["Michael A", "Eberle"],
- ["Stephan", "Zuchner"]
- ],
- "publisher": "bioRxiv : the preprint server for biology",
- "issn": "2692-8205",
- "date": "2025-01-20",
- "abstract": "Tandem repeats are a highly polymorphic class of genomic variation that play causal roles in rare diseases but are notoriously difficult to sequence using short-read techniques",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39868092"
-},
-{
- "id": "pmid:38585781",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38585781",
- "title": "Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.",
- "type": "article-journal",
- "doi": "10.1101/2024.03.22.24304565",
- "authors": [
- ["Tanner D", "Jensen"],
- ["Bohan", "Ni"],
- ["Chloe M", "Reuter"],
- ["John E", "Gorzynski"],
- ["Sarah", "Fazal"],
- ["Devon", "Bonner"],
- ["Rachel A", "Ungar"],
- ["Pag\u00e9 C", "Goddard"],
- ["Archana", "Raja"],
- ["Euan A", "Ashley"],
- ["Jonathan A", "Bernstein"],
- ["Stephan", "Zuchner"],
- ["Michael D", "Greicius"],
- ["Stephen B", "Montgomery"],
- ["Michael C", "Schatz"],
- ["Matthew T", "Wheeler"],
- ["Alexis", "Battle"]
- ],
- "publisher": "medRxiv : the preprint server for health sciences",
- "issn": "",
- "date": "2024-03-26",
- "abstract": "Rare structural variants (SVs) - insertions, deletions, and complex rearrangements - can cause Mendelian disease, yet they remain difficult to accurately detect and interpret. We sequenced and analyzed Oxford Nanopore long-read genomes of 68 individuals from the Undiagnosed Disease Network (UDN) with no previously identified diagnostic mutations from short-read sequencing. Using our optimized SV detection pipelines and 571 control long-read genomes, we detected 716 long-read rare (MAF < 0.01) SV alleles per genome on average, achieving a 2.4x increase from short-reads. To characterize the functional effects of rare SVs, we assessed their relationship with gene expression from blood or fibroblasts from the same individuals, and found that rare SVs overlapping enhancers were enriched (LOR = 0.46) near expression outliers. We also evaluated tandem repeat expansions (TREs) and found 14 rare TREs per genome; notably these TREs were also enriched near overexpression outliers. To prioritize candidate functional SVs, we developed Watershed-SV, a probabilistic model that integrates expression data with SV-specific genomic annotations, which significantly outperforms baseline models that don't incorporate expression data. Watershed-SV identified a median of eight high-confidence functional SVs per UDN genome. Notably, this included compound heterozygous deletions in",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38585781"
-},
-{
- "id": "pmid:38297326",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38297326",
- "title": "RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci.",
- "type": "article-journal",
- "doi": "10.1186/s13059-024-03171-4",
- "authors": [
- ["Sarah", "Fazal"],
- ["Matt C", "Danzi"],
- ["Isaac", "Xu"],
- ["Shilpa Nadimpalli", "Kobren"],
- ["Shamil", "Sunyaev"],
- ["Chloe", "Reuter"],
- ["Shruti", "Marwaha"],
- ["Matthew", "Wheeler"],
- ["Egor", "Dolzhenko"],
- ["Francesca", "Lucas"],
- ["Stefan", "Wuchty"],
- ["Mustafa", "Tekin"],
- ["Stephan", "Z\u00fcchner"],
- ["Vanessa", "Aguiar-Pulido"]
- ],
- "publisher": "Genome biology",
- "issn": "1474-760X",
- "date": "2024-01-31",
- "abstract": "Expansions of tandem repeats (TRs) cause approximately 60 monogenic diseases. We expect that the discovery of additional pathogenic repeat expansions will narrow the diagnostic gap in many diseases. A growing number of TR expansions are being identified, and interpreting them is a challenge. We present RExPRT (Repeat EXpansion Pathogenicity pRediction Tool), a machine learning tool for distinguishing pathogenic from benign TR expansions. Our results demonstrate that an ensemble approach classifies TRs with an average precision of 93% and recall of 83%. RExPRT's high precision will be valuable in large-scale discovery studies, which require prioritization of candidate loci for follow-up studies.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38297326"
-},
-{
- "id": "pmid:40357124",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/40357124",
- "title": "Long-read sequencing for diagnosis of genetic myopathies.",
- "type": "article-journal",
- "doi": "10.1136/bmjno-2024-000990",
- "authors": [
- ["Dennis", "Yeow"],
- ["Laura Ivete", "Rudaks"],
- ["Ryan", "Davis"],
- ["Karl", "Ng"],
- ["Roula", "Ghaoui"],
- ["Pak Leng", "Cheong"],
- ["Gianina", "Ravenscroft"],
- ["Marina", "Kennerson"],
- ["Ira", "Deveson"],
- ["Kishore Raj", "Kumar"]
- ],
- "publisher": "BMJ neurology open",
- "issn": "2632-6140",
- "date": "2025-05-11",
- "abstract": "Genetic myopathies are caused by pathogenic variants in >300 genes across the nuclear and mitochondrial genomes. Although short-read next-generation sequencing (NGS) has revolutionised the diagnosis of genetic disorders, large and/or complex genetic variants, which are over-represented in the genetic myopathies, are not well characterised using this approach. Long-read sequencing (LRS) is a newer genetic testing technology that overcomes many of the limitations of NGS. In particular, LRS provides improved detection of challenging variant types, including short tandem repeat (STR) expansions, copy number variants and structural variants, as well as improved variant phasing and concurrent assessment of epigenetic changes, including DNA methylation. The ability to concurrently detect multiple STR expansions is particularly relevant given the growing number of recently described genetic myopathies associated with STR expansions. LRS will also aid in the identification of new myopathy genes and molecular mechanisms. However, use of LRS technology is currently limited by high cost, low accessibility, the need for specialised DNA extraction procedures, limited availability of LRS bioinformatic tools and pipelines, and the relative lack of healthy control LRS variant databases. Once these barriers are addressed, the implementation of LRS into clinical diagnostic pipelines will undoubtedly streamline the diagnostic algorithm and increase the diagnostic rate for genetic myopathies. In this review, we discuss the utility and critical impact of LRS in this field.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40357124"
-},
-{
- "id": "pmid:42094143",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42094143",
- "title": "Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencing.",
- "type": "article-journal",
- "doi": "10.64898/2026.04.30.26352103",
- "authors": [
- ["Sophia B", "Gibson"],
- ["Nikhita", "Damaraju"],
- ["J Gus", "Gustafson"],
- ["Elsa V", "Balton"],
- ["Sirisak", "Chanprasert"],
- ["Ian A", "Glass"],
- ["Martha", "Horike-Pyne"],
- ["Runjun D", "Kumar"],
- ["Kathleen A", "Leppig"],
- ["Chris", "Lundberg"],
- ["Jane", "Ranchalis"],
- ["Elisabeth A", "Rosenthal"],
- ["Andrew K", "Solomon"],
- ["Andrew B", "Stergachis"],
- ["Mark", "Wener"],
- ["Gail P", "Jarvik"],
- ["Elizabeth E", "Blue"],
- ["Katrina M", "Dipple"],
- ["Harriet", "Dashnow"],
- ["Lea M", "Starita"],
- ["Danny E", "Miller"]
- ],
- "publisher": "medRxiv : the preprint server for health sciences",
- "issn": "",
- "date": "2026-05-01",
- "abstract": "Tandem repeat expansions (TREs) cause over 60 known neurological, neuromuscular, and developmental disorders. Detecting these expansions genome-wide is challenging due to their size, sequence complexity (including interruptions), and population variation. While long-read sequencing is an emerging technology that can fully resolve many TREs, no methods have been described for genome-wide identification and prioritization of candidate pathogenic TREs with this technology.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42094143"
-},
-{
- "id": "pmid:42095061",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42095061",
- "title": "Systematic proteomics reveals plasma NEFL as a robust predictor and pathological associate in",
- "type": "article-journal",
- "doi": "10.3389/fnagi.2026.1792887",
- "authors": [
- ["Zhen", "Hu"],
- ["Jing-Jin", "Wan"],
- ["Qin-Qin", "Yan"],
- ["Yu", "Fan"],
- ["Jun", "Liu"]
- ],
- "publisher": "Frontiers in aging neuroscience",
- "issn": "1663-4365",
- "date": "2026-04-21",
- "abstract": "The",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42095061"
-},
-{
- "id": "pmid:42090775",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42090775",
- "title": "Challenges in the diagnosis of spinocerebellar ATAXIA 27B.",
- "type": "article-journal",
- "doi": "10.1016/j.jns.2026.125969",
- "authors": [
- ["N\u00faria Caballol", "Pons"],
- ["Alejandro Peral", "Quir\u00f3s"],
- ["Anna", "Planas-Ballv\u00e9"],
- ["Paula Lombardo", "Del Toro"],
- ["Imma Hernan", "Sendra"],
- ["Asunci\u00f3n \u00c1vila", "Rivera"]
- ],
- "publisher": "Journal of the neurological sciences",
- "issn": "1878-5883",
- "date": "2026-04-30",
- "abstract": "To characterize the clinical, radiologic, and genetic spectrum of patients with (GAA) repeat expansions in FGF14 gene and to analyze diagnostic challenges associated with spinocerebellar ataxia type 27B (SCA27B).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42090775"
-},
-{
- "id": "pmid:42091595",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42091595",
- "title": "Double strand breaks drive toxicity in a Huntington's disease mouse model with or without somatic expansion.",
- "type": "article-journal",
- "doi": "10.1038/s41467-026-72382-z",
- "authors": [
- ["Aris A", "Polyzos"],
- ["Ana", "Cheong"],
- ["Jung Hyun", "Yoo"],
- ["Lana", "Blagec"],
- ["Zachary D", "Nagel"],
- ["Cynthia T", "McMurray"]
- ],
- "publisher": "Nature communications",
- "issn": "2041-1723",
- "date": "2026-05-06",
- "abstract": "Genome-wide association studies (GWAS) have provided strong evidence that modifiers of CAG tract length have a crucial influence on Huntington disease onset, but somatic expansion alone may not be sufficient to drive neuronal death. Here, we report that DSBs drive neuropathology in male HdhQ(150/150) mice, regardless of somatic expansion of the inherited disease allele. DSBs and somatic expansion occur simultaneously in the HD brain, but the two types of DNA damage drive disease by distinct mechanisms. The site-specific increases in CAG tract length are driven by active mismatch repair (MMR), while DSBs occur genome-wide and are driven by mutant huntingtin-mediated suppression of nonhomologous joining of DNA broken ends. DSBs and transcriptional dysfunction occur in animals that cannot somatically expand their inherited allele. Conversely, suppression of DSBs is sufficient to reverse neuropathology even when somatic expansion is active. We propose that CAG expansion and DSBs promote downstream neuronal pathology as separable drivers. The disease-length CAG tract leads to early inhibition of DSBR and accumulating DSBs over time ultimately kill neurons.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42091595"
-},
-{
- "id": "pmid:40138021",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/40138021",
- "title": "Analysis of C9orf72 repeat length in progressive supranuclear palsy, corticobasal syndrome, corticobasal degeneration, and atypical parkinsonism.",
- "type": "article-journal",
- "doi": "10.1007/s00415-025-12990-9",
- "authors": [
- ["David P", "Vaughan"],
- ["Raquel", "Real"],
- ["Marte Theilmann", "Jensen"],
- ["Riona G", "Fumi"],
- ["Megan", "Hodgson"],
- ["Edwin", "Jabbari"],
- ["Danielle", "Lux"],
- ["Lesley", "Wu"],
- ["Thomas T", "Warner"],
- ["Zane", "Jaunmuktane"],
- ["Tamas", "Revesz"],
- ["James B", "Rowe"],
- ["Jonathan", "Rohrer"],
- ["Huw R", "Morris"]
- ],
- "publisher": "Journal of neurology",
- "issn": "1432-1459",
- "date": "2025-03-26",
- "abstract": "Pathogenic hexanucleotide repeat expansions in C9orf72 are the commonest genetic cause of frontotemporal dementia and/or amyotrophic lateral sclerosis. There is growing interest in intermediate repeat expansions in C9orf72 and their relationship to a wide range of neurological presentations, including Alzheimer's disease, Parkinson's disease, progressive supranuclear palsy, corticobasal degeneration, and corticobasal syndromes.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40138021"
-},
-{
- "id": "pmid:33705846",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33705846",
- "title": "Porphyrins ameliorate spinocerebellar ataxia type 36 GGCCTG repeat expansion-mediated cytotoxicity.",
- "type": "article-journal",
- "doi": "10.1016/j.neures.2021.03.001",
- "authors": [
- ["Kimitoshi", "Hirayanagi"],
- ["Hiroaki", "Ozaki"],
- ["Setsuki", "Tsukagoshi"],
- ["Natsumi", "Furuta"],
- ["Yoshio", "Ikeda"]
- ],
- "publisher": "Neuroscience research",
- "issn": "1872-8111",
- "date": "2021-03-08",
- "abstract": "Spinocerebellar ataxia type 36 (SCA36) is a noncoding repeat expansion disorder caused by an expanded GGCCTG hexanucleotide repeat (HNR) in the first intron of the nucleolar protein 56 (NOP56) gene. Another disease-causing HNR expansion derived from C9orf72-linked GGGGCC repeats that form G-quadruplexes (GQs) affects genetic stability, RNA splicing, and mRNA localization within neurites. The porphyrin derivative TMPyP4 was shown to ameliorate RNA toxicity caused by GGGGCC HNR expansion by binding and distorting RNA GQ structures. SCA36 GGCCTG HNRs can potentially form RNA GQs; therefore, we investigated whether several porphyrin derivatives could reduce RNA toxicity in SCA36 cell models. Among these, sodium copper chlorophyllin and hemin chloride, which have already been used in clinical practice, reduced SCA36 GGCCTG expansion-mediated cytotoxicity and improved cell viability. These data suggest that porphyrins are potential therapeutic candidates against SCA36 pathogenesis.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33705846"
-},
-{
- "id": "pmid:33663561",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33663561",
- "title": "Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction.",
- "type": "article-journal",
- "doi": "10.1186/s13024-021-00433-8",
- "authors": [
- ["Emma M", "Perkins"],
- ["Karen", "Burr"],
- ["Poulomi", "Banerjee"],
- ["Arpan R", "Mehta"],
- ["Owen", "Dando"],
- ["Bhuvaneish T", "Selvaraj"],
- ["Daumante", "Suminaite"],
- ["Jyoti", "Nanda"],
- ["Christopher M", "Henstridge"],
- ["Thomas H", "Gillingwater"],
- ["Giles E", "Hardingham"],
- ["David J A", "Wyllie"],
- ["Siddharthan", "Chandran"],
- ["Matthew R", "Livesey"]
- ],
- "publisher": "Molecular neurodegeneration",
- "issn": "1750-1326",
- "date": "2021-03-04",
- "abstract": "Physiological disturbances in cortical network excitability and plasticity are established and widespread in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) patients, including those harbouring the C9ORF72 repeat expansion (C9ORF72",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33663561"
-},
-{
- "id": "pmid:33661518",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33661518",
- "title": "Chemical chaperones targeted to the endoplasmic reticulum (ER) and lysosome prevented neurodegeneration in a C9orf72 repeat expansion drosophila amyotrophic lateral sclerosis (ALS) model.",
- "type": "article-journal",
- "doi": "10.1007/s43440-021-00226-2",
- "authors": [
- ["Salome", "Azoulay-Ginsburg"],
- ["Michela", "Di Salvio"],
- ["Michal", "Weitman"],
- ["Michal", "Afri"],
- ["Sara", "Ribeiro"],
- ["Simon", "Ebbinghaus"],
- ["Gianluca", "Cestra"],
- ["Arie", "Gruzman"]
- ],
- "publisher": "Pharmacological reports : PR",
- "issn": "2299-5684",
- "date": "2021-03-04",
- "abstract": "ALS is an incurable neuromuscular degenerative disorder. A familiar form of the disease (fALS) is related to point mutations. The most common one is an expansion of a noncoding GGGGCC hexanucleotide repeat of the C9orf72 gene on chromosome 9p21. An abnormal translation of the C9orf72 gene generates dipeptide repeat proteins that aggregate in the brain. One of the classical approaches for developing treatment against protein aggregation-related diseases is to use chemical chaperones (CSs). In this work, we describe the development of novel 4-phenylbutyric acid (4-PBA) lysosome/ER-targeted derivatives. We assumed that 4-PBA targeting to specific organelles, where protein degradation takes place, might reduce the 4-PBA effective concentration.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33661518"
-},
-{
- "id": "pmid:33558503",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33558503",
- "title": "Variant-selective stereopure oligonucleotides protect against pathologies associated with C9orf72-repeat expansion in preclinical models.",
- "type": "article-journal",
- "doi": "10.1038/s41467-021-21112-8",
- "authors": [
- ["Yuanjing", "Liu"],
- ["Jean-Cosme", "Dodart"],
- ["Helene", "Tran"],
- ["Shaunna", "Berkovitch"],
- ["Maurine", "Braun"],
- ["Michael", "Byrne"],
- ["Ann F", "Durbin"],
- ["Xiao Shelley", "Hu"],
- ["Naoki", "Iwamoto"],
- ["Hyun Gyung", "Jang"],
- ["Pachamuthu", "Kandasamy"],
- ["Fangjun", "Liu"],
- ["Kenneth", "Longo"],
- ["J\u00f6rg", "Ruschel"],
- ["Juili", "Shelke"],
- ["Hailin", "Yang"],
- ["Yuan", "Yin"],
- ["Amy", "Donner"],
- ["Zhong", "Zhong"],
- ["Chandra", "Vargeese"],
- ["Robert H", "Brown"]
- ],
- "publisher": "Nature communications",
- "issn": "2041-1723",
- "date": "2021-02-08",
- "abstract": "A large G",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33558503"
-},
-{
- "id": "pmid:33482083",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33482083",
- "title": "p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR).",
- "type": "article-journal",
- "doi": "10.1016/j.cell.2020.12.025",
- "authors": [
- ["Maya", "Maor-Nof"],
- ["Zohar", "Shipony"],
- ["Rodrigo", "Lopez-Gonzalez"],
- ["Lisa", "Nakayama"],
- ["Yong-Jie", "Zhang"],
- ["Julien", "Couthouis"],
- ["Jacob A", "Blum"],
- ["Patricia A", "Castruita"],
- ["Gabriel R", "Linares"],
- ["Kai", "Ruan"],
- ["Gokul", "Ramaswami"],
- ["David J", "Simon"],
- ["Aviv", "Nof"],
- ["Manuel", "Santana"],
- ["Kyuho", "Han"],
- ["Nasa", "Sinnott-Armstrong"],
- ["Michael C", "Bassik"],
- ["Daniel H", "Geschwind"],
- ["Marc", "Tessier-Lavigne"],
- ["Laura D", "Attardi"],
- ["Thomas E", "Lloyd"],
- ["Justin K", "Ichida"],
- ["Fen-Biao", "Gao"],
- ["William J", "Greenleaf"],
- ["Jennifer S", "Yokoyama"],
- ["Leonard", "Petrucelli"],
- ["Aaron D", "Gitler"]
- ],
- "publisher": "Cell",
- "issn": "1097-4172",
- "date": "2021-01-21",
- "abstract": "The most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is a GGGGCC repeat expansion in the C9orf72 gene. We developed a platform to interrogate the chromatin accessibility landscape and transcriptional program within neurons during degeneration. We provide evidence that neurons expressing the dipeptide repeat protein poly(proline-arginine), translated from the C9orf72 repeat expansion, activate a highly specific transcriptional program, exemplified by a single transcription factor, p53. Ablating p53 in mice completely rescued neurons from degeneration and markedly increased survival in a C9orf72 mouse model. p53 reduction also rescued axonal degeneration caused by poly(glycine-arginine), increased survival of C9orf72 ALS/FTD-patient-induced pluripotent stem cell (iPSC)-derived motor neurons, and mitigated neurodegeneration in a C9orf72 fly model. We show that p53 activates a downstream transcriptional program, including Puma, which drives neurodegeneration. These data demonstrate a neurodegenerative mechanism dynamically regulated through transcription-factor-binding events and provide a framework to apply chromatin accessibility and transcription program profiles to neurodegeneration.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33482083"
-},
-{
- "id": "pmid:33376800",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33376800",
- "title": "Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease.",
- "type": "article-journal",
- "doi": "10.1212/nxg.0000000000000538",
- "authors": [
- ["Maria Del Mar", "Amador"],
- ["Marcela", "Gargiulo"],
- ["Christilla", "Boucher"],
- ["Ariane", "Herson"],
- ["St\u00e9phanie", "Staraci"],
- ["Fran\u00e7ois", "Salachas"],
- ["Fabienne", "Clot"],
- ["C\u00e9cile", "Cazeneuve"],
- ["Isabelle", "Le Ber"],
- ["Alexandra", "Durr"]
- ],
- "publisher": "Neurology. Genetics",
- "issn": "2376-7839",
- "date": "2020-12-24",
- "abstract": "We aimed to describe the population of subjects seeking presymptomatic counseling for amyotrophic lateral sclerosis and/or frontotemporal dementia (ALS/FTD) and compared them with those demanding the well-established presymptomatic test for Huntington disease (HD).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33376800"
-},
-{
- "id": "pmid:33253636",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33253636",
- "title": "Molecular Dynamics Study of Structure, Folding, and Aggregation of Poly-PR and Poly-GR Proteins.",
- "type": "article-journal",
- "doi": "10.1016/j.bpj.2020.11.2258",
- "authors": [
- ["Size", "Zheng"],
- ["Ali", "Sahimi"],
- ["Katherine S", "Shing"],
- ["Muhammad", "Sahimi"]
- ],
- "publisher": "Biophysical journal",
- "issn": "1542-0086",
- "date": "2020-11-28",
- "abstract": "Poly-proline-arginine (poly-PR) and poly-glycine-arginine (poly-GR) proteins are believed to be the most toxic dipeptide repeat (DPR) proteins that are expressed by the hexanucleotide repeat expansion mutation in C9ORF72, which are associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) diseases. Their structural information and mechanisms of toxicity remain incomplete, however. Using molecular dynamics simulation and all-atom model of proteins, we study folding and aggregation of both poly-PR and poly-GR. The results indicate formation of double-helix structure during the aggregation of poly-PR into dimers, whereas no stable aggregate is formed during the aggregation of poly-GR; the latter only folds into \u03b1-helix and double-helix structures that are similar to those formed in the folding of poly-glycine-alanine (poly-GA) protein. Our findings are consistent with the experimental data indicating that poly-PR and poly-GR are less likely to aggregate because of the hydrophilic arginine residues within their structures. Such characteristics could, however, in some respect facilitate migration of the DPR proteins between and within cells and, at the same time, give proline residues the benefits of activating the receptors that regulate ionotropic effect in neurons, resulting in death or malfunction of neurons because of the abnormal increase or decrease of the ion transmission. This may explain the neurotoxicities of poly-PR and poly-GR associated with many neurodegenerative diseases. To our knowledge, this is the first molecular dynamics simulation of the phenomena involving poly-PR and poly-GR proteins.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33253636"
-},
-{
- "id": "pmid:32921502",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/32921502",
- "title": "No association of CpG SNP rs9357140 with onset age in Belgian C9orf72 repeat expansion carriers.",
- "type": "article-journal",
- "doi": "10.1016/j.neurobiolaging.2020.07.021",
- "authors": [
- ["Cemile", "Ko\u00e7o\u011flu"],
- ["Helena", "Gossye"],
- ["Lubina", "Dillen"],
- ["Sara", "Van Mossevelde"],
- ["Jan L", "De Bleecker"],
- ["Rik", "Vandenberghe"],
- ["Peter P", "De Deyn"],
- ["Kristel", "Sleegers"],
- ["Patrick", "Cras"],
- ["Sebastiaan", "Engelborghs"],
- ["Christine", "Van Broeckhoven"],
- ["Julie", "van der Zee"]
- ],
- "publisher": "Neurobiology of aging",
- "issn": "1558-1497",
- "date": "2020-08-15",
- "abstract": "We investigated the impact of the recently described chromosome 6 open reading frame 10 (C6orf10)/LOC101929163 locus as age-at-onset modifier in an extended cohort of Belgian chromosome 9 open reading frame 72 (C9orf72) G",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32921502"
-},
-{
- "id": "pmid:27768896",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27768896",
- "title": "C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles.",
- "type": "article-journal",
- "doi": "10.1016/j.cell.2016.10.002",
- "authors": [
- ["Kyung-Ha", "Lee"],
- ["Peipei", "Zhang"],
- ["Hong Joo", "Kim"],
- ["Diana M", "Mitrea"],
- ["Mohona", "Sarkar"],
- ["Brian D", "Freibaum"],
- ["Jaclyn", "Cika"],
- ["Maura", "Coughlin"],
- ["James", "Messing"],
- ["Amandine", "Molliex"],
- ["Brian A", "Maxwell"],
- ["Nam Chul", "Kim"],
- ["Jamshid", "Temirov"],
- ["Jennifer", "Moore"],
- ["Regina-Maria", "Kolaitis"],
- ["Timothy I", "Shaw"],
- ["Bing", "Bai"],
- ["Junmin", "Peng"],
- ["Richard W", "Kriwacki"],
- ["J Paul", "Taylor"]
- ],
- "publisher": "Cell",
- "issn": "1097-4172",
- "date": "2016-10-20",
- "abstract": "Expansion of a hexanucleotide repeat GGGGCC (G",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27768896"
-},
-{
- "id": "pmid:27663272",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27663272",
- "title": "C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis.",
- "type": "article-journal",
- "doi": "10.1136/jnnp-2016-314093",
- "authors": [
- ["James", "Rooney"],
- ["Isabella", "Fogh"],
- ["Henk-Jan", "Westeneng"],
- ["Alice", "Vajda"],
- ["Russell", "McLaughlin"],
- ["Mark", "Heverin"],
- ["Ashley", "Jones"],
- ["Ruben", "van Eijk"],
- ["Andrea", "Calvo"],
- ["Letizia", "Mazzini"],
- ["Christopher", "Shaw"],
- ["Karen", "Morrison"],
- ["Pamela J", "Shaw"],
- ["Wim", "Robberecht"],
- ["Phillip", "Van Damme"],
- ["Ammar", "Al-Chalabi"],
- ["Leonard", "van den Berg"],
- ["Adriano", "Chi\u00f2"],
- ["Jan", "Veldink"],
- ["Orla", "Hardiman"]
- ],
- "publisher": "Journal of neurology, neurosurgery, and psychiatry",
- "issn": "1468-330X",
- "date": "2016-09-23",
- "abstract": "The",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27663272"
-},
-{
- "id": "pmid:27413586",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27413586",
- "title": "Amyotrophic Lateral Sclerosis with Frontotemporal Dementia in the Presence of C9orf72 Repeat Expansion-A Case Report.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["Chaitanya", "Bonda"],
- ["Murali K", "Kolikonda"],
- ["Martin E", "Brown"],
- ["Steven", "Lippmann"]
- ],
- "publisher": "Innovations in clinical neuroscience",
- "issn": "2158-8333",
- "date": "2016-02-01",
- "abstract": "Amyotrophic lateral sclerosis and frontotemporal dementia are significant neurodegenerative illnesses with possible genetic predispositions. The C9orf72 gene and the GGGGCC repeat expansions of it are reported to have a causative role in the expression of these conditions. We report a case of a patient with autosomal dominant amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD) in the presence of C9orf72 repeat expansion. We believe our case further supports the theory that the presence of C9orf72 repeat expansion in patients with a family history of amyotrophic lateral sclerosis and/or frontotemporal dementia significantly increases their risk of developing either or both diseases. The development of antisense oligonucleotides that might target GGGGCC RNA sequences theoretically may have a therapeutic role in mitigating the clinical expression of these illnesses.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27413586"
-},
-{
- "id": "pmid:27193190",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27193190",
- "title": "The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway.",
- "type": "article-journal",
- "doi": "10.1186/s40478-016-0324-5",
- "authors": [
- ["Peter M", "Sullivan"],
- ["Xiaolai", "Zhou"],
- ["Adam M", "Robins"],
- ["Daniel H", "Paushter"],
- ["Dongsung", "Kim"],
- ["Marcus B", "Smolka"],
- ["Fenghua", "Hu"]
- ],
- "publisher": "Acta neuropathologica communications",
- "issn": "2051-5960",
- "date": "2016-05-18",
- "abstract": "Hexanucleotide repeat expansion in the C9orf72 gene is a leading cause of frontotemporal lobar degeneration (FTLD) with amyotrophic lateral sclerosis (ALS). Reduced expression of C9orf72 has been proposed as a possible disease mechanism. However, the cellular function of C9orf72 remains to be characterized. Here we report the identification of two binding partners of C9orf72: SMCR8 and WDR41. We show that WDR41 interacts with the C9orf72/SMCR8 heterodimer and WDR41 is tightly associated with the Golgi complex. We further demonstrate that C9orf72/SMCR8/WDR41 associates with the FIP200/Ulk1 complex, which is essential for autophagy initiation. C9orf72 deficient mice, generated using the CRISPR/Cas9 system, show severe inflammation in multiple organs, including lymph node, spleen and liver. Lymph node enlargement and severe splenomegaly are accompanied with macrophage infiltration. Increased levels of autophagy and lysosomal proteins and autophagy defects were detected in both the spleen and liver of C9orf72 deficient mice, supporting an in vivo role of C9orf72 in regulating the autophagy/lysosome pathway. In summary, our study elucidates potential physiological functions of C9orf72 and disease mechanisms of ALS/FTLD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27193190"
-},
-{
- "id": "pmid:27079381",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27079381",
- "title": "C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.",
- "type": "article-journal",
- "doi": "10.1186/s40478-016-0306-7",
- "authors": [
- ["Patrizia", "Rizzu"],
- ["Cornelis", "Blauwendraat"],
- ["Sasja", "Heetveld"],
- ["Emily M", "Lynes"],
- ["Melissa", "Castillo-Lizardo"],
- ["Ashutosh", "Dhingra"],
- ["Elwira", "Pyz"],
- ["Markus", "Hobert"],
- ["Matthis", "Synofzik"],
- ["Javier", "Sim\u00f3n-S\u00e1nchez"],
- ["Margherita", "Francescatto"],
- ["Peter", "Heutink"]
- ],
- "publisher": "Acta neuropathologica communications",
- "issn": "2051-5960",
- "date": "2016-04-14",
- "abstract": "A non-coding hexanucleotide repeat expansion (HRE) in C9orf72 is a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) acting through a loss of function mechanism due to haploinsufficiency of C9orf72 or a gain of function mediated by aggregates of bidirectionally transcribed HRE-RNAs translated into di-peptide repeat (DPR) proteins. To fully understand regulation of C9orf72 expression we surveyed the C9orf72 locus using Cap Analysis of Gene Expression sequence data (CAGEseq). We observed C9orf72 was generally lowly expressed with the exception of a subset of myeloid cells, particularly CD14+ monocytes that showed up to seven fold higher expression as compared to central nervous system (CNS) and other tissues. The expression profile at the C9orf72 locus showed a complex architecture with differential expression of the transcription start sites (TSSs) for the annotated C9orf72 transcripts between myeloid and CNS tissues suggesting cell and/or tissue specific functions. We further detected novel TSSs in both the sense and antisense strand at the C9orf72 locus and confirmed their existence in brain tissues and CD14+ monocytes. Interestingly, our experiments showed a consistent decrease of C9orf72 coding transcripts not only in brain tissue and monocytes from C9orf72-HRE patients, but also in brains from MAPT and GRN mutation carriers together with an increase in antisense transcripts suggesting these could play a role in regulation of C9orf72. We found that the non-HRE related expression changes cannot be explained by promoter methylation but by the presence of the C9orf72-HRE risk haplotype and unknown functional interactions between C9orf72, MAPT and GRN.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27079381"
-},
-{
- "id": "pmid:26931465",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/26931465",
- "title": "Poly-dipeptides encoded by the C9ORF72 repeats block global protein translation.",
- "type": "article-journal",
- "doi": "10.1093/hmg/ddw052",
- "authors": [
- ["Kohsuke", "Kanekura"],
- ["Takuya", "Yagi"],
- ["Alexander J", "Cammack"],
- ["Jana", "Mahadevan"],
- ["Masahiko", "Kuroda"],
- ["Matthew B", "Harms"],
- ["Timothy M", "Miller"],
- ["Fumihiko", "Urano"]
- ],
- "publisher": "Human molecular genetics",
- "issn": "1460-2083",
- "date": "2016-02-29",
- "abstract": "The expansion of the GGGGCC hexanucleotide repeat in the non-coding region of the Chromosome 9 open-reading frame 72 (C9orf72) gene is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). This genetic alteration leads to the accumulation of five types of poly-dipeptides translated from the GGGGCC hexanucleotide repeat. Among these, poly-proline-arginine (poly-PR) and poly-glycine-arginine (poly-GR) peptides are known to be neurotoxic. However, the mechanisms of neurotoxicity associated with these poly-dipeptides are not clear. A proteomics approach identified a number of interacting proteins with poly-PR peptide, including mRNA-binding proteins, ribosomal proteins, translation initiation factors and translation elongation factors. Immunostaining of brain sections from patients with C9orf72 ALS showed that poly-GR was colocalized with a mRNA-binding protein, hnRNPA1. In vitro translation assays showed that poly-PR and poly-GR peptides made insoluble complexes with mRNA, restrained the access of translation factors to mRNA, and blocked protein translation. Our results demonstrate that impaired protein translation mediated by poly-PR and poly-GR peptides plays a role in neurotoxicity and reveal that the pathways altered by the poly-dipeptides-mRNA complexes are potential therapeutic targets for treatment of C9orf72 FTD/ALS.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26931465"
-},
-{
- "id": "pmid:21944779",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21944779",
- "title": "A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.",
- "type": "article-journal",
- "doi": "10.1016/j.neuron.2011.09.010",
- "authors": [
- ["Alan E", "Renton"],
- ["Elisa", "Majounie"],
- ["Adrian", "Waite"],
- ["Javier", "Sim\u00f3n-S\u00e1nchez"],
- ["Sara", "Rollinson"],
- ["J Raphael", "Gibbs"],
- ["Jennifer C", "Schymick"],
- ["Hannu", "Laaksovirta"],
- ["John C", "van Swieten"],
- ["Liisa", "Myllykangas"],
- ["Hannu", "Kalimo"],
- ["Anders", "Paetau"],
- ["Yevgeniya", "Abramzon"],
- ["Anne M", "Remes"],
- ["Alice", "Kaganovich"],
- ["Sonja W", "Scholz"],
- ["Jamie", "Duckworth"],
- ["Jinhui", "Ding"],
- ["Daniel W", "Harmer"],
- ["Dena G", "Hernandez"],
- ["Janel O", "Johnson"],
- ["Kin", "Mok"],
- ["Mina", "Ryten"],
- ["Danyah", "Trabzuni"],
- ["Rita J", "Guerreiro"],
- ["Richard W", "Orrell"],
- ["James", "Neal"],
- ["Alex", "Murray"],
- ["Justin", "Pearson"],
- ["Iris E", "Jansen"],
- ["David", "Sondervan"],
- ["Harro", "Seelaar"],
- ["Derek", "Blake"],
- ["Kate", "Young"],
- ["Nicola", "Halliwell"],
- ["Janis Bennion", "Callister"],
- ["Greg", "Toulson"],
- ["Anna", "Richardson"],
- ["Alex", "Gerhard"],
- ["Julie", "Snowden"],
- ["David", "Mann"],
- ["David", "Neary"],
- ["Michael A", "Nalls"],
- ["Terhi", "Peuralinna"],
- ["Lilja", "Jansson"],
- ["Veli-Matti", "Isoviita"],
- ["Anna-Lotta", "Kaivorinne"],
- ["Maarit", "H\u00f6ltt\u00e4-Vuori"],
- ["Elina", "Ikonen"],
- ["Raimo", "Sulkava"],
- ["Michael", "Benatar"],
- ["Joanne", "Wuu"],
- ["Adriano", "Chi\u00f2"],
- ["Gabriella", "Restagno"],
- ["Giuseppe", "Borghero"],
- ["Mario", "Sabatelli"],
- ["David", "Heckerman"],
- ["Ekaterina", "Rogaeva"],
- ["Lorne", "Zinman"],
- ["Jeffrey D", "Rothstein"],
- ["Michael", "Sendtner"],
- ["Carsten", "Drepper"],
- ["Evan E", "Eichler"],
- ["Can", "Alkan"],
- ["Ziedulla", "Abdullaev"],
- ["Svetlana D", "Pack"],
- ["Amalia", "Dutra"],
- ["Evgenia", "Pak"],
- ["John", "Hardy"],
- ["Andrew", "Singleton"],
- ["Nigel M", "Williams"],
- ["Peter", "Heutink"],
- ["Stuart", "Pickering-Brown"],
- ["Huw R", "Morris"],
- ["Pentti J", "Tienari"],
- ["Bryan J", "Traynor"]
- ],
- "publisher": "Neuron",
- "issn": "1097-4199",
- "date": "2011-09-21",
- "abstract": "The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases. We have previously shown that a founder haplotype, covering the MOBKL2b, IFNK, and C9ORF72 genes, is present in the majority of cases linked to this region. Here we show that there is a large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 on the affected haplotype. This repeat expansion segregates perfectly with disease in the Finnish population, underlying 46.0% of familial ALS and 21.1% of sporadic ALS in that population. Taken together with the D90A SOD1 mutation, 87% of familial ALS in Finland is now explained by a simple monogenic cause. The repeat expansion is also present in one-third of familial ALS cases of outbred European descent, making it the most common genetic cause of these fatal neurodegenerative diseases identified to date.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21944779"
-},
-{
- "id": "pmid:40879304",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/40879304",
- "title": "GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.",
- "type": "article-journal",
- "doi": "10.1002/mds.30328",
- "authors": [
- ["Elisabetta", "Indelicato"],
- ["Zofia", "Fleszar"],
- ["David", "Pellerin"],
- ["Wolfgang", "Nachbauer"],
- ["Stephan", "Zuchner"],
- ["Andreas", "Trasch\u00fctz"],
- ["Matthias", "Amprosi"],
- ["Ludger", "Sch\u00f6ls"],
- ["Tobias B", "Haack"],
- ["Bernard", "Brais"],
- ["Sylvia", "Boesch"],
- ["Matthis", "Synofzik"]
- ],
- "publisher": "Movement disorders : official journal of the Movement Disorder Society",
- "issn": "1531-8257",
- "date": "2025-08-19",
- "abstract": "An intronic (GAA)\u2022(TTC) repeat expansion in FGF14 was recently identified as the cause of spinocerebellar ataxia 27B (SCA27B), a disorder presenting with both chronic cerebellar ataxia and episodic symptoms. The phenotype of SCA27B overlaps with that of CACNA1A spectrum disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40879304"
-},
-{
- "id": "pmid:39152783",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39152783",
- "title": "Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.",
- "type": "article-journal",
- "doi": "10.1111/ene.16441",
- "authors": [
- ["Xu-Ying", "Li"],
- ["Hong", "Lai"],
- ["Xian", "Li"],
- ["Fanxi", "Xu"],
- ["Yang", "Song"],
- ["Zhanjun", "Wang"],
- ["Qibin", "Li"],
- ["Ruichai", "Lin"],
- ["Zhiheng", "Xu"],
- ["Chaodong", "Wang"]
- ],
- "publisher": "European journal of neurology",
- "issn": "1468-1331",
- "date": "2024-08-17",
- "abstract": "Multiple system atrophy (MSA) is a progressive, adult-onset neurodegenerative disorder clinically characterized by combinations of autonomic failure, parkinsonism, cerebellar ataxia and pyramidal signs. Although a few genetic factors have been reported to contribute to the disease, its mutational profiles have not been systemically studied.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39152783"
-},
-{
- "id": "pmid:37307504",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37307504",
- "title": "Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans.",
- "type": "article-journal",
- "doi": "10.1101/gr.277335.122",
- "authors": [
- ["Kohei", "Hamanaka"],
- ["Daisuke", "Yamauchi"],
- ["Eriko", "Koshimizu"],
- ["Kei", "Watase"],
- ["Kaoru", "Mogushi"],
- ["Kinya", "Ishikawa"],
- ["Hidehiro", "Mizusawa"],
- ["Naomi", "Tsuchida"],
- ["Yuri", "Uchiyama"],
- ["Atsushi", "Fujita"],
- ["Kazuharu", "Misawa"],
- ["Takeshi", "Mizuguchi"],
- ["Satoko", "Miyatake"],
- ["Naomichi", "Matsumoto"]
- ],
- "publisher": "Genome research",
- "issn": "1549-5469",
- "date": "2023-03-27",
- "abstract": "Tandem repeats (TRs) are one of the largest sources of polymorphism, and their length is associated with gene regulation. Although previous studies reported several tandem repeats regulating gene splicing in",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37307504"
-},
-{
- "id": "pmid:33121221",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33121221",
- "title": "New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia.",
- "type": "article-journal",
- "doi": "10.14802/jmd.20082",
- "authors": [
- ["Yannic", "Saathoff"],
- ["Saskia", "Biskup"],
- ["Claudia", "Funke"],
- ["Christian", "Roth"]
- ],
- "publisher": "Journal of movement disorders",
- "issn": "2005-940X",
- "date": "2020-10-31",
- "abstract": "The genetic testing of hereditary ataxias includes screening for CAG-repeat expansions as well as pathogenic variants and nontranslated oligonucleotide expansion, which can cause spinocerebellar ataxia (SCA). Genotype-phenotype correlations of several SCA subtypes are difficult to establish, and the underlying mechanisms remain unclear. Here, we report a 58-year-old male patient who presented with severe generalized ataxia, horizontal gaze-evoked nystagmus, cognitive impairment and a positive family history of gait difficulties. Genetic panel diagnostics revealed a new nonsense pathogenic variant in the CACNA1A gene (c.2983G>T; p. Glu995*) that segregated with the phenotype in three clinically affected family members. This gene is related to SCA type 6 (SCA6), episodic ataxia type 2, familial hemiplegic migraine type 1, among others. When it is supported by the clinical findings and family history, additional DNA sequencing beyond fragment length analysis should be performed.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33121221"
-},
-{
- "id": "pmid:28946818",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/28946818",
- "title": "Bicistronic CACNA1A Gene Expression in Neurons Derived from Spinocerebellar Ataxia Type 6 Patient-Induced Pluripotent Stem Cells.",
- "type": "article-journal",
- "doi": "10.1089/scd.2017.0085",
- "authors": [
- ["Carlo", "Bavassano"],
- ["Andreas", "Eigentler"],
- ["Ruslan", "Stanika"],
- ["Gerald J", "Obermair"],
- ["Sylvia", "Boesch"],
- ["Georg", "Dechant"],
- ["Roxana", "Nat"]
- ],
- "publisher": "Stem cells and development",
- "issn": "1557-8534",
- "date": "2017-10-30",
- "abstract": "Spinocerebellar ataxia type 6 (SCA6) is an autosomal-dominant neurodegenerative disorder that is caused by a CAG trinucleotide repeat expansion in the CACNA1A gene. As one of the few bicistronic genes discovered in the human genome, CACNA1A encodes not only the \u03b11A subunit of the P/Q type voltage-gated Ca",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28946818"
-},
-{
- "id": "pmid:21550405",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21550405",
- "title": "Splice isoform-specific suppression of the Cav2.1 variant underlying spinocerebellar ataxia type 6.",
- "type": "article-journal",
- "doi": "10.1016/j.nbd.2011.04.016",
- "authors": [
- ["Wei-Ling", "Tsou"],
- ["Bing-Wen", "Soong"],
- ["Henry L", "Paulson"],
- ["Edgardo", "Rodr\u00edguez-Lebr\u00f3n"]
- ],
- "publisher": "Neurobiology of disease",
- "issn": "1095-953X",
- "date": "2011-04-29",
- "abstract": "Spinocerebellar ataxia type 6 (SCA6) is an inherited neurodegenerative disease caused by a polyglutamine (polyQ) expansion in the Ca(V)2.1 voltage-gated calcium channel subunit (CACNA1A). There is currently no treatment for this debilitating disorder and thus a pressing need to develop preventative therapies. RNA interference (RNAi) has proven effective at halting disease progression in several models of spinocerebellar ataxia (SCA), including SCA types 1 and 3. However, in SCA6 and other dominantly inherited neurodegenerative disorders, RNAi-based strategies that selectively suppress expression of mutant alleles may be required. Using a Ca(V)2.1 mini-gene reporter system, we found that pathogenic CAG expansions in Ca(V)2.1 enhance splicing activity at the 3'end of the transcript, leading to a CAG repeat length-dependent increase in the levels of a polyQ-encoding Ca(V)2.1 mRNA splice isoform and the resultant disease protein. Taking advantage of this molecular phenomenon, we developed a novel splice isoform-specific (SIS)-RNAi strategy that selectively targets the polyQ-encoding Ca(V)2.1 splice variant. Selective suppression of transiently expressed and endogenous polyQ-encoding Ca(V)2.1 splice variants was achieved in a variety of cell-based models including a human neuronal cell line, using a new artificial miRNA-like delivery system. Moreover, the efficacy of gene silencing correlated with effective intracellular recognition and processing of SIS-RNAi miRNA mimics. These results lend support to the preclinical development of SIS-RNAi as a potential therapy for SCA6 and other dominantly inherited diseases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21550405"
-},
-{
- "id": "pmid:16310805",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/16310805",
- "title": "Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case.",
- "type": "article-journal",
- "doi": "10.1016/j.jns.2005.10.004",
- "authors": [
- ["Suzanne Granh\u00f8j", "Lindquist"],
- ["Anne", "N\u00f8rrem\u00f8lle"],
- ["Lena Elisabeth", "Hjermind"],
- ["Lis", "Hasholt"],
- ["J\u00f8rgen Erik", "Nielsen"]
- ],
- "publisher": "Journal of the neurological sciences",
- "issn": "0022-510X",
- "date": "2005-11-28",
- "abstract": "Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominantly inherited disorder characterized by cerebellar ataxia, dysarthria and nystagmus. The molecular background for the disorder is a CAG repeat expansion in the CACNA1A gene located on chromosome 19. The size of SCA6 expanded alleles is usually stable, and variation in repeat size over successive generations is rare. We report a Danish family with one case of SCA6 resembling a sporadic case of spinocerebellar ataxia. Analysis of the CACNA1A gene showed meiotic CAG repeat instability in the transmission from a 70-year-old woman with no subjective symptoms to her symptomatic son. The CAG repeat size expanded from 22 repeats in the mother to 23 repeats in the proband. This case demonstrates maternal repeat instability and clinical anticipation in a family with SCA6.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16310805"
-},
-{
- "id": "pmid:11717352",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11717352",
- "title": "Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6.",
- "type": "article-journal",
- "doi": "10.1523/jneurosci.21-23-09185.2001",
- "authors": [
- ["E S", "Piedras-Renteria"],
- ["K", "Watase"],
- ["N", "Harata"],
- ["O", "Zhuchenko"],
- ["H Y", "Zoghbi"],
- ["C C", "Lee"],
- ["R W", "Tsien"]
- ],
- "publisher": "The Journal of neuroscience : the official journal of the Society for Neuroscience",
- "issn": "1529-2401",
- "date": "2001-12-01",
- "abstract": "The expansion of polyglutamine tracts encoded by CAG trinucleotide repeats is a common mutational mechanism in inherited neurodegenerative diseases. Spinocerebellar ataxia type 6 (SCA6), an autosomal dominant, progressive disease, arises from trinucleotide repeat expansions present in the coding region of CACNA1A (chromosome 19p13). This gene encodes alpha(1A), the principal subunit of P/Q-type Ca(2+) channels, which are abundant in the CNS, particularly in cerebellar Purkinje and granule neurons. We assayed ion channel function by introduction of human alpha(1A) cDNAs in human embryonic kidney 293 cells that stably coexpressed beta(1) and alpha(2)delta subunits. Immunocytochemical analysis showed a rise in intracellular and surface expression of alpha(1A) protein when CAG repeat lengths reached or exceeded the pathogenic range for SCA6. This gain at the protein level was not a consequence of changes in RNA stability, as indicated by Northern blot analysis. The electrophysiological behavior of alpha(1A) subunits containing expanded (EXP) numbers of CAG repeats (23, 27, and 72) was compared against that of wild-type subunits (WT) (4 and 11 repeats) using standard whole-cell patch-clamp recording conditions. The EXP alpha(1A) subunits yielded functional ion channels that supported inward Ca(2+) channel currents, with a sharp increase in P/Q Ca(2+) channel current density relative to WT. Our results showed that Ca(2+) channels from SCA6 patients display near-normal biophysical properties but increased current density attributable to elevated protein expression at the cell surface.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11717352"
-},
-{
- "id": "pmid:11355155",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11355155",
- "title": "Sporadic late onset paroxysmal cerebellar ataxia in four unrelated patients: a new disease?",
- "type": "article-journal",
- "doi": "10.1007/s004150170228",
- "authors": [
- ["J", "Julien"],
- ["C", "Denier"],
- ["X", "Ferrer"],
- ["A", "Ducros"],
- ["J", "Saintarailles"],
- ["A", "Lagueny"],
- ["E", "Tournier-Lasserve"],
- ["C", "Vital"]
- ],
- "publisher": "Journal of neurology",
- "issn": "0340-5354",
- "date": "2001-03-01",
- "abstract": "We describe a peculiar form of late onset paroxysmal cerebellar ataxia including clinical features similar to episodic ataxia type 2 (EA2) but unresponsive to acetazolamide. Four unrelated patients were clinically investigated. Neuropathological examination was performed in one patient and molecular analysis in all four. All 47 exons of CACNA1A were screened by a combination of single-strand conformer polymorphism and sequencing analysis in three patients. In addition, the length of the CAG repeat was determined in all four patients. The four patients were in their 60s at the onset of the disease, which was characterized by cerebellar ataxia attacks lasting from a few minutes to 1-2 h and occurring mainly in the morning. In the interictal period a nystagmus was present together with a slowly progressive cerebellar ataxia over the years. The neuropathological examination disclosed a dramatic loss of Purkinje cells mainly in the vermis. Moreover, certain cerebellar granular neurons had a strong cytoplasmic staining at immunopathological examination with an anti-tau protein serum. Search for truncating mutations or CAG repeat expansion in CACNA1A was negative. This late-onset paroxysmal cerebellar ataxia with neuropathological lesions restricted to Purkinje cells and with negative results both for truncating mutations and CAG expansion in the CACNA1A gene represents a new entity. Further studies are needed to delineate the underlying process.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11355155"
-},
-{
- "id": "pmid:11176970",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11176970",
- "title": "Metabolic characterization of spinocerebellar ataxia type 6.",
- "type": "article-journal",
- "doi": "10.1001/archneur.58.2.300",
- "authors": [
- ["B", "Soong"],
- ["R", "Liu"],
- ["L", "Wu"],
- ["Y", "Lu"],
- ["H", "Lee"]
- ],
- "publisher": "Archives of neurology",
- "issn": "0003-9942",
- "date": "2001-02-01",
- "abstract": "Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disorder characterized by slowly progressive ataxia and dysarthria. The mutational basis is an expanded CAG repeat sequence within the coding regions of the CACNL1A4 gene. Basic clinical, neuroimaging, and pathological, and epidemiological features have been described in the literature. However, the metabolic features of SCA6 have not been elucidated.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11176970"
-},
-{
- "id": "pmid:11081813",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11081813",
- "title": "Nineteen CAG repeats of the SCA6 gene in a Japanese patient presenting with ataxia.",
- "type": "article-journal",
- "doi": "10.1007/s004150070117",
- "authors": [
- ["T", "Katayama"],
- ["Y", "Ogura"],
- ["H", "Aizawa"],
- ["H", "Kuroda"],
- ["Y", "Suzuki"],
- ["K", "Kuroda"],
- ["K", "Kikuchi"]
- ],
- "publisher": "Journal of neurology",
- "issn": "0340-5354",
- "date": "2000-09-01",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11081813"
-},
-{
- "id": "pmid:10369863",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10369863",
- "title": "Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6.",
- "type": "article-journal",
- "doi": "10.1093/hmg/8.7.1185",
- "authors": [
- ["K", "Ishikawa"],
- ["H", "Fujigasaki"],
- ["H", "Saegusa"],
- ["K", "Ohwada"],
- ["T", "Fujita"],
- ["H", "Iwamoto"],
- ["Y", "Komatsuzaki"],
- ["S", "Toru"],
- ["H", "Toriyama"],
- ["M", "Watanabe"],
- ["N", "Ohkoshi"],
- ["S", "Shoji"],
- ["I", "Kanazawa"],
- ["T", "Tanabe"],
- ["H", "Mizusawa"]
- ],
- "publisher": "Human molecular genetics",
- "issn": "0964-6906",
- "date": "1999-07-01",
- "abstract": "Spinocerebellar ataxia type 6 (SCA6) is one of the eight neurodegenerative diseases caused by a tri-nucleotide (CAG) repeat expansion coding polyglutamine (CAG repeat/polyglutamine diseases) and is characterized by late onset autosomal dominant cerebellar ataxia and predominant loss of cerebellar Purkinje cells. Although the causative, small and stable CAG repeat expansion for this disease has been identified in the [alpha]1A voltage-dependent calcium channel gene (CACNA1A), the mechanism which leads to predominant Purkinje cell degeneration is totally unknown. In this study, we show that the calcium channel mRNA/protein containing the CAG repeat/polyglutamine tract is most intensely expressed in Purkinje cells of human brains. In SCA6 brains, numerous oval or rod-shaped aggregates were seen exclusively in the cytoplasm of Purkinje cells. These cytoplasmic inclusions were not ubiquitinated, which contrasts with the neuronal intra-nuclear inclusions of other CAG repeat/polyglutamine diseases. In cultured cells, formation of perinuclear aggregates of the channel protein and apoptotic cell death were seen when transfected with full-length CACNA1A coding an expanded polyglutamine tract. The present study indicates that the mechanism of neurodegeneration in SCA6 is associated with cytoplasmic aggregations of the [alpha]1A calcium channel protein caused by a small CAG repeat/polyglutamine expansion in CACNA1A.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10369863"
-},
-{
- "id": "pmid:10366652",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10366652",
- "title": "Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6.",
- "type": "article-journal",
- "doi": "10.1523/jneurosci.19-12-j0004.1999",
- "authors": [
- ["Z", "Matsuyama"],
- ["M", "Wakamori"],
- ["Y", "Mori"],
- ["H", "Kawakami"],
- ["S", "Nakamura"],
- ["K", "Imoto"]
- ],
- "publisher": "The Journal of neuroscience : the official journal of the Society for Neuroscience",
- "issn": "1529-2401",
- "date": "1999-06-15",
- "abstract": "Spinocerebellar ataxia 6 (SCA6) is caused by expansion of a polyglutamine stretch, encoded by a CAG trinucleotide repeat, in the human P/Q-type Ca(2+) channel alpha(1A) subunit. Although SCA6 shares common features with other neurodegenerative glutamine repeat disorders, the polyglutamine repeats in SCA6 are exceptionally small, ranging from 21 to 33. Because this size is too small to form insoluble aggregates that have been blamed for the cause of neurodegeneration, SCA6 is the disorder suitable for exploring the pathogenic mechanisms other than aggregate formation, whose universal role has been questioned. To characterize the pathogenic process of SCA6, we studied the effects of polyglutamine expansion on channel properties by analyzing currents flowing through the P/Q-type Ca(2+) channels with an expanded stretch of 24, 30, or 40 polyglutamines, recombinantly expressed in baby hamster kidney cells. Whereas the Ca(2+) channels with A transposition in one allele, at nucleotide 1152, resulting in a predicted glycine-to-arginine substitution at codon 293. The CAG-repeat expansion associated with spinocerebellar ataxia 6 was not present in any family members. This family is unique in having a non-CAG-repeat mutation that leads to severe progressive ataxia. Since a great deal is known about the function of calcium channels, we speculate on how this missense mutation leads to the combination of clinical symptoms and signs.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9345107"
-},
-{
- "id": "pmid:9311738",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/9311738",
- "title": "Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1.",
- "type": "article-journal",
- "doi": "10.1086/514867",
- "authors": [
- ["K", "Ishikawa"],
- ["H", "Tanaka"],
- ["M", "Saito"],
- ["N", "Ohkoshi"],
- ["T", "Fujita"],
- ["K", "Yoshizawa"],
- ["T", "Ikeuchi"],
- ["M", "Watanabe"],
- ["A", "Hayashi"],
- ["Y", "Takiyama"],
- ["M", "Nishizawa"],
- ["I", "Nakano"],
- ["K", "Matsubayashi"],
- ["M", "Miwa"],
- ["S", "Shoji"],
- ["I", "Kanazawa"],
- ["S", "Tsuji"],
- ["H", "Mizusawa"]
- ],
- "publisher": "American journal of human genetics",
- "issn": "0002-9297",
- "date": "1997-08-01",
- "abstract": "Autosomal dominant cerebellar ataxia is a group of clinically and genetically heterogeneous disorders. We carried out genomewide linkage analysis in 15 families with autosomal dominant pure cerebellar ataxia (ADPCA). Evidence for linkage to chromosome 19p markers was found in nine families, and combined multipoint analysis refined the candidate region to a 13.3-cM interval in 19p13.1-p13.2. The remaining six families were excluded for this region. Analysis of CAG-repeat expansion in the alpha1A-voltage-dependent calcium channel (CACNL1A4) gene lying in 19p13.1, recently identified among 8 small American kindreds with ADPCA (spinocerebellar ataxia type 6 [SCA6]), revealed that 8 of the 15 families studied had similar, very small expansion in this gene: all affected individuals had larger alleles (range of CAG repeats 21-25), compared with alleles observed in neurologically normal Japanese (range 5-20 repeats). Inverse correlation between the CAG-repeat number and the age at onset was found in affected individuals with expansion. The number of CAG repeats in expanded chromosomes was completely stable within each family, which was consistent with the fact that anticipation was not statistically proved in the SCA6 families that we studied. We conclude that more than half of Japanese cases of ADPCA map to 19p13.1-p13.2 and are strongly associated with the mild CAG expansion in the SCA6/CACNL1A4 gene.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9311738"
-},
-{
- "id": "pmid:9043864",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/9043864",
- "title": "A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["R A", "Ophoff"],
- ["G M", "Terwindt"],
- ["M N", "Vergouwe"],
- ["R", "van Eijk"],
- ["H", "Mohrenweiser"],
- ["M", "Litt"],
- ["M H", "Hofker"],
- ["J", "Haan"],
- ["M D", "Ferrari"],
- ["R R", "Frants"]
- ],
- "publisher": "European journal of human genetics : EJHG",
- "issn": "1018-4813",
- "date": "1996-01-01",
- "abstract": "Familial hemiplegic migraine (FHM) is an autosomal domianant subtype of migraine with attacks, associated with transient episodes of hemiparesis. One of the genes for FHM has been assigned to chromosome 19p13. Detailed analysis of critical recombinants from two different chromosome 19-linked FHM families, using new markers indicated a 6-cM candidate region on 19p13.1-p13.2 flanked by loci D19S394 and D19S226. Another paroxysmal neurological disorder, episodic ataxia type 2 (EA-2), has also been linked to the same chromosomal region. Most of the interval was completely covered by YAC and cosmid contigs; the physical map yielded approximately 3 Mb encompassing several genes including the protein kinase substrate 80K-H (PRKCSH) gene. Since PRKCSH is involved in neuronal signal transduction, it was considered to be an FHM candidate gene. The genomic structure of this gene was established and mutation analysis for all exon and flanking intron sequences was performed in FHM- and EA-2-affected individuals. Five polymorphisms were identified, including a trinucleotide repeat length variation in the coding sequence. However, no potential disease causing mutation was found and therefore the PRKCSH gene can be excluded for both FHM and EA-2.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9043864"
-},
-{
- "id": "pmid:40113266",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/40113266",
- "title": "Optical genome mapping enables accurate testing of large repeat expansions.",
- "type": "article-journal",
- "doi": "10.1101/gr.279491.124",
- "authors": [
- ["Bart", "van der Sanden"],
- ["Kornelia", "Neveling"],
- ["Syukri", "Shukor"],
- ["Michael D", "Gallagher"],
- ["Joyce", "Lee"],
- ["Stephanie L", "Burke"],
- ["Maartje", "Pennings"],
- ["Ronald", "van Beek"],
- ["Michiel", "Oorsprong"],
- ["Ellen", "Kater-Baats"],
- ["Eveline", "Kamping"],
- ["Alide A", "Tieleman"],
- ["Nicol C", "Voermans"],
- ["Ingrid E", "Scheffer"],
- ["Jozef", "Gecz"],
- ["Mark A", "Corbett"],
- ["Lisenka E L M", "Vissers"],
- ["Andy Wing Chun", "Pang"],
- ["Alex", "Hastie"],
- ["Erik-Jan", "Kamsteeg"],
- ["Alexander", "Hoischen"]
- ],
- "publisher": "Genome research",
- "issn": "1549-5469",
- "date": "2025-04-14",
- "abstract": "Short tandem repeats (STRs) are common variations in human genomes that frequently expand or contract, causing genetic disorders, mainly when expanded. Traditional diagnostic methods for identifying these expansions, such as repeat-primed PCR and Southern blotting, are often labor-intensive, locus-specific, and are unable to precisely determine long repeat expansions. Sequencing-based methods, although capable of genome-wide detection, are limited by inaccuracy (short-read technologies) and high associated costs (long-read technologies). This study evaluated optical genome mapping (OGM) as an efficient, accurate approach for measuring STR lengths and assessing somatic stability in 85 samples with known pathogenic repeat expansions in",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40113266"
-},
-{
- "id": "pmid:39119544",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39119544",
- "title": "Co-occurrence of",
- "type": "article-journal",
- "doi": "10.5114/ppn.2024.141382",
- "authors": [
- ["Wiktoria", "Radziwonik-Fr\u0105czyk"],
- ["Ewelina", "Elert-Dobkowska"],
- ["Jolanta", "Kubalska"],
- ["Iwona", "St\u0119pniak"],
- ["Marta", "Lipowska"],
- ["Anna", "Potulska-Chromik"],
- ["Anna", "Su\u0142ek"]
- ],
- "publisher": "Postepy psychiatrii neurologii",
- "issn": "2720-5371",
- "date": "2024-07-24",
- "abstract": "Muscular dystrophy is a group of heterogeneous diseases causing progressive muscle weakness and atrophy. Many types have been defined, including Duchenne/Becker, myotonic, limb-girdle, congenital, and facioscapulohumeral muscular dystrophies. This study aims to present the first patient with both a homozygous",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39119544"
-},
-{
- "id": "pmid:34024776",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34024776",
- "title": "Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 2.",
- "type": "article-journal",
- "doi": "10.3233/jnd-210671",
- "authors": [
- ["Manon", "Damen"],
- ["Mascha", "Schijvenaars"],
- ["Marlies", "Schimmel-Naber"],
- ["Johanne", "Groothuismink"],
- ["Marieke", "Coenen"],
- ["Alide", "Tieleman"]
- ],
- "publisher": "Journal of neuromuscular diseases",
- "issn": "2214-3602",
- "date": "2021-01-01",
- "abstract": "Myotonic dystrophy type 2 (DM2) is caused by a CCTG repeat expansion in intron 1 of the CCHC-Type Zinc Finger Nucleic Acid Binding Protein (CNBP) gene. Previous studies indicated that this repeat expansion originates from separate founders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34024776"
-},
-{
- "id": "pmid:29291944",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29291944",
- "title": "Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients.",
- "type": "article-journal",
- "doi": "10.1016/j.bbadis.2017.12.037",
- "authors": [
- ["Massimo", "Santoro"],
- ["Luana", "Fontana"],
- ["Francesca", "Maiorca"],
- ["Federica", "Centofanti"],
- ["Roberto", "Massa"],
- ["Gabriella", "Silvestri"],
- ["Giuseppe", "Novelli"],
- ["Annalisa", "Botta"]
- ],
- "publisher": "Biochimica et biophysica acta. Molecular basis of disease",
- "issn": "0925-4439",
- "date": "2017-12-29",
- "abstract": "Myotonic Dystrophy type 2 (DM2) is a multisystemic disorder associated with an expanded [CCTG]n repeat in intron 1 of the CNBP gene. Epigenetic modifications have been reported in many repeat expansion disorders, including myotonic dystrophy type 1 (DM1), either as a mechanism to explain somatic repeat instability or transcriptional alterations in disease genes. The purpose of our work was to determine the effect of DM2 mutation on the methylation status of CpG islands localized in the 5' promoter region and in the 3' end of the [CCTG]n expansion of the CNBP gene. By bisulfite pyrosequencing, we characterized the methylation profile of two different CpG islands within these regions, either in whole blood and skeletal muscle tissues of DM2 patients (n=72 and n=7, respectively) and controls (n=50 and n=7, respectively). Moreover, we compared the relative mRNA transcript levels of CNBP gene in leukocytes and in skeletal muscle tissues from controls and DM2 patients. We found that CpG sites located in the promoter region showed hypomethylation, whereas CpG sites at 3' end of the CCTG array are hypermethylated. Statistical analyses did not demonstrate any significant differences in the methylation profile between DM2 patients and controls in both tissues analyzed. According to the methylation analysis, CNBP gene expression levels are not significantly altered in DM2 patients. These results show that [CCTG]n repeat expansion, differently from the DM1 mutation, does not influence the methylation status of the CNBP gene and suggest that other molecular mechanisms are involved in the pathogenesis of DM2.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29291944"
-},
-{
- "id": "pmid:28130447",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/28130447",
- "title": "Pseudouridine Modification Inhibits Muscleblind-like 1 (MBNL1) Binding to CCUG Repeats and Minimally Structured RNA through Reduced RNA Flexibility.",
- "type": "article-journal",
- "doi": "10.1074/jbc.m116.770768",
- "authors": [
- ["Elaine", "deLorimier"],
- ["Melissa N", "Hinman"],
- ["Jeremy", "Copperman"],
- ["Kausiki", "Datta"],
- ["Marina", "Guenza"],
- ["J Andrew", "Berglund"]
- ],
- "publisher": "The Journal of biological chemistry",
- "issn": "1083-351X",
- "date": "2017-01-27",
- "abstract": "Myotonic dystrophy type 2 is a genetic neuromuscular disease caused by the expression of expanded CCUG repeat RNAs from the non-coding region of the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28130447"
-},
-{
- "id": "pmid:27727437",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27727437",
- "title": "Molecular Diagnosis of Myotonic Dystrophy.",
- "type": "article-journal",
- "doi": "10.1002/cphg.22",
- "authors": [
- ["Sujata", "Chakraborty"],
- ["Matteo", "Vatta"],
- ["Linda L", "Bachinski"],
- ["Ralf", "Krahe"],
- ["Stephen", "Dlouhy"],
- ["Shaochun", "Bai"]
- ],
- "publisher": "Current protocols in human genetics",
- "issn": "1934-8258",
- "date": "2016-10-11",
- "abstract": "Myotonic dystrophy types 1 (DM1) and 2 (DM2) are autosomal dominant, microsatellite repeat expansion disorders that affect muscle function. Myotonic dystrophy type 1 is caused by CTG repeat expansion in the 3' UTR region of the DMPK gene. Patients with DM2 have expansion of CCTG repeats in intron 1 of the CNBP gene. In this unit, we review and discuss the clinical phenotypes, genetic mutations causing the diseases, and the molecular diagnostic approaches and tools that are used to determine repeat sizes in DM1/2. In summary, the goal of this chapter is to provide the reader with a basic understanding of the clinical, genetic and diagnostic aspects of these disorders. \u00a9 2016 by John Wiley & Sons, Inc.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27727437"
-},
-{
- "id": "pmid:27222292",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27222292",
- "title": "Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.",
- "type": "article-journal",
- "doi": "10.1038/ejhg.2016.41",
- "authors": [
- ["Mirjam", "Larsen"],
- ["Wolfram", "Kress"],
- ["Benedikt", "Schoser"],
- ["Ute", "Hehr"],
- ["Clemens R", "M\u00fcller"],
- ["Simone", "Rost"]
- ],
- "publisher": "European journal of human genetics : EJHG",
- "issn": "1476-5438",
- "date": "2016-05-25",
- "abstract": "The myotonic dystrophies (DMs) are the most common inherited muscular disorders in adults. In most of the cases, the disease is caused by (CTG)n/(CCTG)n repeat expansions (EXPs) in non-coding regions of the genes DMPK (dystrophia myotonica-protein kinase) and CNBP (CCHC-type zinc-finger nucleic acid-binding protein). The EXP is transcribed into mutant RNAs, which provoke a common pathomechanism that is characterized by misexpression and mis-splicing. In this study, we screened 138 patients with typical clinical features of DM being negative for EXP in the known genes. We sequenced DMPK and CNBP - associated with DM, as well as CELF1 (CUGBP, Elav-like family member 1) and MBNL1 (muscleblind-like splicing regulator 1) - associated with the pathomechanism of DM, for pathogenic variants, addressing the question whether defects in other genes could cause a DM-like phenotype. We identified variants in three unrelated patients in the MBNL1 gene, two of them were heterozygous missense mutations and one an in-frame deletion of three amino acids. The variants were located in different conserved regions of the protein. The missense mutations were classified as potentially pathogenic by prediction tools. Analysis of MBNL1 splice target genes was carried out for one of the patients using RNA from peripheral blood leukocytes (PBL). Analysis of six genes known to show mis-splicing in the skeletal muscle gave no informative results on the effect of this variant when tested in PBL. The association of these variants with the DM phenotype therefore remains unconfirmed, but we hope that in view of the key role of MBNL1 in DM pathogenesis our observations may foster further studies in this direction.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27222292"
-},
-{
- "id": "pmid:12215838",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12215838",
- "title": "Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.",
- "type": "article-journal",
- "doi": "10.1007/s00439-002-0755-x",
- "authors": [
- ["Bruno", "Moulard"],
- ["Pierre", "Genton"],
- ["Djamel", "Grid"],
- ["Marc", "Jeanpierre"],
- ["R\u00e9da", "Ouazzani"],
- ["Amel", "Mrabet"],
- ["Mike", "Morris"],
- ["Eric", "LeGuern"],
- ["Charlotte", "Dravet"],
- ["Fran\u00e7ois", "Maugui\u00e8re"],
- ["Barbara", "Utermann"],
- ["Michel", "Baldy-Moulinier"],
- ["Halima", "Belaidi"],
- ["Fran\u00e7oise", "Bertran"],
- ["Arnaud", "Biraben"],
- ["Andr\u00e9", "Ali Ch\u00e9rif"],
- ["Taieb", "Chkili"],
- ["Arielle", "Crespel"],
- ["Fran\u00e7oise", "Darcel"],
- ["Olivier", "Dulac"],
- ["Christian", "Geny"],
- ["V\u00e9ronique", "Humbert-Claude"],
- ["Philippe", "Kassiotis"],
- ["Catherine", "Buresi"],
- ["Alain", "Malafosse"]
- ],
- "publisher": "Human genetics",
- "issn": "0340-6717",
- "date": "2002-07-23",
- "abstract": "Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy common in Finland and North Africa, and less common in Western Europe. ULD is mostly caused by expansion of a dodecamer repeat in the cystatin B gene ( CSTB) promoter. We performed a haplotype study of ULD chromosomes (ULDc) with the repeat expansion. We included 48 West European Caucasian (WEC) and 47 North African (NA) ULDc. We analysed eight markers flanking CSTB(GT10-D21S1890-D21S1885-D21S2040-D21S1259- CSTB-D21S1912-PFKL-D21S171) and one intragenic variant in the CSTB 3' UTR (A2575G). We observed a founder effect in most of the NA ULD patients, as 61.7% of the NA ULDc (29/47) shared the same haplotype, A1 (1-1-A-1-6-7), for markers D21S1885-D21S2040-A2575G-D21S1259-D21S1912-PFKL. Moreover, if we considered only the markers D21S1885, D21S2040, A2575G and D21S1259, 43 of the 47 NA ULDc shared the same alleles 1-1-A-1, haplotype A. As previously shown, the WEC ULDc were heterogeneous. However, the Baltic haplotype, A3 (5-1-1-A-1-1), was observed in ten WEC ULDc (20.8%) and the CSTB 3'UTR variant, which we called the Alps variant, was observed in 17 ULDc (35.4%). Finally, as almost all NA patients, like Scandinavian patients, were of the haplotype A, we assumed that there was an ancient common founder effect in NA and Baltic ULD patients. We estimated that the putative most recent common ancestral ULD carrier with this haplotype A must have existed about 2,500 years ago (100-150 generations). Finally, this work provides evidence for the existence of only a small number of founder mutations in ULD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12215838"
-},
-{
- "id": "pmid:11697734",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11697734",
- "title": "Progressive myoclonus epilepsy [EPM1] repeat d(CCCCGCCCCGCG)n forms folded hairpin structures at physiological pH.",
- "type": "article-journal",
- "doi": "10.1080/07391102.2001.10506740",
- "authors": [
- ["S S", "Pataskar"],
- ["D", "Dash"],
- ["S K", "Brahmachari"]
- ],
- "publisher": "Journal of biomolecular structure & dynamics",
- "issn": "0739-1102",
- "date": "2001-10-01",
- "abstract": "The secondary structure of DNA has been shown to be an important component in the mechanism of expansion of the trinucleotide repeats that are associated with many neurodegenerative disorders. Recently, expansion of a dodecamer repeat, (CCCCGCCCCGCG)n upstream of cystatin B gene has been shown to be the most common mutation associated with Progressive Myoclonus Epilepsy (EPM1) of Unverricht-Lundborg type. We have investigated structure of oligonucleotides containing one, two and three copies of the EPM1 repeat sequences at physiological pH. CD spectra and anomalous faster gel electrophoretic mobilty indicates formation of intramolecularly folded structures that are formed independent of concentration. Hydroxylamine probing allowed us to identify the C residues that are involved in C.G base pairing. P1 nuclease studies elucidated the presence of unpaired regions in the folded back structures. UV melting studies show biphasic melting curves for the oligonucleotides containing two and three EPM1 repeats. Our data suggests multiple hairpin structures for two and three repeat containing oligonucleotides. In this paper we show that oligonucleotides containing EPM1 repeat adopt secondary structures that may facilitate strand slippage thereby causing the expansion.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11697734"
-},
-{
- "id": "pmid:11240124",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/11240124",
- "title": "Tetraplex formation by the progressive myoclonus epilepsy type-1 repeat: implications for instability in the repeat expansion diseases.",
- "type": "article-journal",
- "doi": "10.1016/s0014-5793(01)02190-1",
- "authors": [
- ["T", "Saha"],
- ["K", "Usdin"]
- ],
- "publisher": "FEBS letters",
- "issn": "0014-5793",
- "date": "2001-03-02",
- "abstract": "The repeat expansion diseases are a group of genetic disorders resulting from an increase in size or expansion of a specific array of tandem repeats. It has been suggested that DNA secondary structures are responsible for this expansion. If this is so, we would expect that all unstable repeats should form such structures. We show here that the unstable repeat that causes progressive myoclonus epilepsy type-1 (EPM1), like the repeats associated with other diseases in this category, forms a variety of secondary structures. However, EPM1 is unique in that tetraplexes are the only structures likely to form in long unpaired repeat tracts under physiological conditions.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11240124"
-},
-{
- "id": "pmid:10927802",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10927802",
- "title": "A patient with 2 different repeat expansion mutations.",
- "type": "article-journal",
- "doi": "10.1001/archneur.57.8.1199",
- "authors": [
- ["P", "Nokelainen"],
- ["H", "Heiskala"],
- ["A E", "Lehesjoki"],
- ["M", "Kaski"]
- ],
- "publisher": "Archives of neurology",
- "issn": "0003-9942",
- "date": "2000-08-01",
- "abstract": "Many inherited progressive encephalopathies have a poor outcome, and some are caused by repeat expansion mutations. How would the presence of 2 different expansion mutations affect the phenotype?",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10927802"
-},
-{
- "id": "pmid:10660338",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10660338",
- "title": "The minisatellite expansion mutation in EPM1: resolution of an initial discrepancy. Mutatations in brief no. 186. Online.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["K", "Virtaneva"],
- ["L", "Paulin"],
- ["R", "Krahe"],
- ["A", "de la Chapelle"],
- ["A E", "Lehesjoki"]
- ],
- "publisher": "Human mutation",
- "issn": "1059-7794",
- "date": "1998-01-01",
- "abstract": "Mutations in the cystatin B (CSTB) gene underlie progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) (Pennacchio et al., 1996). We previously described an unstable minisatellite expansion mutation in the putative promoter region of CSTB that accounts for the majority of EPM1 patients. Sequencing of a genomic lambda clone, generated from a Finnish EPM1 patient homozygous for an enlarged restriction fragment, revealed a 15- to 18-mer minisatellite repeat expansion (Virtaneva et al., 1997). Later, sequencing of plasmid clones generated from Swiss and French patients revealed a dodecamer repeat expansion (Lalioti et al., 1997a). By restriction enzyme analysis of our original patient clone and a clone generated from an Italian patient, we now show that the expansion is neither a 15-mer nor an 18-mer contrary to our initial results. Moreover, direct sequencing of the Finnish patient clone with Pfu exo polymerase confirmed that the expanded repeat is a dodecamer. Based on this finding and additional experiments, we suggest that the discrepancy between the two studies was due to errors caused by the combination of native Pfu polymerase and modified guanosine deaza-7-dGTP used in the PCR reaction.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10660338"
-},
-{
- "id": "pmid:36622139",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36622139",
- "title": "Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability.",
- "type": "article-journal",
- "doi": "10.1111/epi.17504",
- "authors": [
- ["Christel", "Depienne"],
- ["Arn M J M", "van den Maagdenberg"],
- ["Theresa", "K\u00fchnel"],
- ["Hiroyuki", "Ishiura"],
- ["Mark A", "Corbett"],
- ["Shoji", "Tsuji"]
- ],
- "publisher": "Epilepsia",
- "issn": "1528-1167",
- "date": "2023-01-22",
- "abstract": "Familial adult myoclonus epilepsy (FAME) results from the same pathogenic TTTTA/TTTCA pentanucleotide repeat expansion in six distinct genes encoding proteins with different subcellular localizations and very different functions, which poses the issue of what causes the neurobiological disturbances that lead to the clinical phenotype. Postmortem and electrophysiological studies have pointed to cortical hyperexcitability as well as dysfunction and neurodegeneration of both the cortex and cerebellum of FAME subjects. FAME expansions, contrary to the same expansion in DAB1 causing spinocerebellar ataxia type 37, seem to have no or limited impact on their recipient gene expression, which suggests a pathophysiological mechanism independent of the gene and its function. Current hypotheses include toxicity of the RNA molecules carrying UUUCA repeats, or toxicity of polypeptides encoded by the repeats, a mechanism known as repeat-associated non-AUG translation. The analysis of postmortem brains of FAME1 expansion (in SAMD12) carriers has revealed the presence of RNA foci that could be formed by the aggregation of RNA molecules with abnormal UUUCA repeats, but evidence is still lacking for other FAME subtypes. Even when the expansion is located in a gene ubiquitously expressed, expression of repeats remains undetectable in peripheral tissues (blood, skin). Therefore, the development of appropriate cellular models (induced pluripotent stem cell-derived neurons) or the study of affected tissues in patients is required to elucidate how FAME repeat expansions located in unrelated genes lead to disease.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36622139"
-},
-{
- "id": "pmid:39713478",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39713478",
- "title": "Modulation of the JAK2-STAT3 pathway promotes expansion and maturation of human iPSCs-derived myogenic progenitor cells.",
- "type": "article-journal",
- "doi": "10.1101/2024.12.09.624203",
- "authors": [
- ["Luca", "Caputo"],
- ["Cedomir", "Stamenkovic"],
- ["Matthew T", "Tierney"],
- ["Maria Sofia", "Falzarano"],
- ["Rhonda", "Bassel-Duby"],
- ["Alessandra", "Ferlini"],
- ["Eric N", "Olson"],
- ["Pier Lorenzo", "Puri"],
- ["Alessandra", "Sacco"]
- ],
- "publisher": "bioRxiv : the preprint server for biology",
- "issn": "2692-8205",
- "date": "2024-12-10",
- "abstract": "Generation of",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39713478"
-},
-{
- "id": "pmid:30197656",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30197656",
- "title": "Curvilinear Association Between Language Disfluency and",
- "type": "article-journal",
- "doi": "10.3389/fgene.2018.00344",
- "authors": [
- ["Jessica", "Klusek"],
- ["Anna", "Porter"],
- ["Leonard", "Abbeduto"],
- ["Tatyana", "Adayev"],
- ["Flora", "Tassone"],
- ["Marsha R", "Mailick"],
- ["Anne", "Glicksman"],
- ["Bridgette L", "Tonnsen"],
- ["Jane E", "Roberts"]
- ],
- "publisher": "Frontiers in genetics",
- "issn": "1664-8021",
- "date": "2018-08-24",
- "abstract": "Historically, investigations of",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30197656"
-},
-{
- "id": "pmid:9108071",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/9108071",
- "title": "Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease.",
- "type": "article-journal",
- "doi": "10.1073/pnas.94.8.3872",
- "authors": [
- ["D C", "Rubinsztein"],
- ["J", "Leggo"],
- ["M", "Chiano"],
- ["A", "Dodge"],
- ["G", "Norbury"],
- ["E", "Rosser"],
- ["D", "Craufurd"]
- ],
- "publisher": "Proceedings of the National Academy of Sciences of the United States of America",
- "issn": "0027-8424",
- "date": "1997-04-15",
- "abstract": "Huntington disease (HD) is associated with abnormal expansions of a CAG repeat close to the 5' end of the IT15 gene. We have assembled a set of 293 HD subjects whose ages of onset were known and sized their HD CAG repeats. These repeats accounted for 69% of the variance of age of onset when we used the most parsimonious model, which relates the logarithm of age of onset to a function of CAG repeat number. Since other familial factors have been proposed to influence the age of onset of HD, we have examined a number of candidate loci. The CAG repeat number on normal chromosomes, the delta2642 polymorphism in the HD gene, and apolipoprotein E genotypes did not affect the age of onset of HD. Although mitochondrial energy production defects in HD have led to suggestions that variants in the mitochondrial genome may be associated with clinical variability in HD, this suggestion was not supported by our preliminary experiments that examined the DdeI mitochondrial restriction fragment length polymorphism at position 10,394. Excitotoxicity has been a favored mechanism to explain the cell death in HD, particularly since intrastriatal injection of excitatory amino acids in animals creates HD-like pathology. Accordingly, we investigated the GluR6 kainate receptor. Of the variance in the age of onset of HD that was not accounted for by the CAG repeats, 13% could be attributed to GluR6 genotype variation. These data implicate GluR6-mediated excitotoxicity in the pathogenesis of HD and highlight the potential importance of this process in other polyglutamine repeat expansion diseases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9108071"
-},
-{
- "id": "pmid:23770070",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/23770070",
- "title": "Identification of mucins by using a method involving a combination of on-membrane chemical deglycosylation and immunostaining.",
- "type": "article-journal",
- "doi": "10.1016/j.jim.2013.06.002",
- "authors": [
- ["Yu-ki", "Matsuno"],
- ["Weijie", "Dong"],
- ["Seiya", "Yokoyama"],
- ["Suguru", "Yonezawa"],
- ["Hisashi", "Narimatsu"],
- ["Akihiko", "Kameyama"]
- ],
- "publisher": "Journal of immunological methods",
- "issn": "1872-7905",
- "date": "2013-06-14",
- "abstract": "The characterization of mucins is critically important for gaining insights into the molecular pathology of diseases, including cancers, as well as for the discovery of biomarkers for disease diagnosis. However, no practical method has yet been reported for identifying mucin proteins. Here, we report a technique for immunological identification of mucins separated by supported molecular matrix electrophoresis (SMME), a recently developed membrane electrophoresis method. The technique involves on-membrane deglycosylation of mucins by using mild periodate oxidation/base-catalyzed elimination, followed by immunostaining with an antibody that specifically recognizes the mucin tandem repeat (TR) peptide. We demonstrated the method's feasibility by using MUC1 derived from 2 cancer cell lines, T47D and HPAF-II. The present method shows potential as an alternative approach for the identification of mucins separated by SMME or blotted from conventional gel electrophoresis, on a PVDF membrane.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23770070"
-},
-{
- "id": "pmid:22086855",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/22086855",
- "title": "Association of aberrations in one-carbon metabolism with molecular phenotype and grade of breast cancer.",
- "type": "article-journal",
- "doi": "10.1002/mc.21830",
- "authors": [
- ["Shaik Mohammad", "Naushad"],
- ["Addepalli", "Pavani"],
- ["Yedluri", "Rupasree"],
- ["Shree", "Divyya"],
- ["Sripurna", "Deepti"],
- ["Raghunadha Rao", "Digumarti"],
- ["Suryanarayana Raju", "Gottumukkala"],
- ["Aruna", "Prayaga"],
- ["Vijay Kumar", "Kutala"]
- ],
- "publisher": "Molecular carcinogenesis",
- "issn": "1098-2744",
- "date": "2011-11-15",
- "abstract": "We have earlier demonstrated the role of aberrant one-carbon metabolism in the etiology of breast cancer. In the current study, we examine the clinical utility of these factors in predicting the subtype of breast cancer and as indicators of disease progression. Polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) and PCR-amplified fragment length polymorphism (AFLP) approaches were used for genetic analysis. Plasma folate and homocysteine were measured using Axsym folate kit and reverse phase HPLC, respectively. Multiple linear regression models were used to test the predictability of disease progression. Luminal A subtype was associated with late age of onset, higher body mass index and lack of family history of breast cancer. Thymidylate synthase (TYMS) 5'-UTR 28 bp tandem repeat (OR: 2.09, 95% CI: 1.05-4.16) and methylene tetrahydrofolate reductase (MTHFR) C677T (OR: 4.10, 95% CI: 1.40-11.95) were strongly associated with Luminal B. Reduced folate carrier (RFC1) G80A (OR: 2.92, 95% CI: 1.22-6.97) and methionine synthase (MTR) A2756G (OR: 4.71, 95% CI: 1.66-13.31) polymorphisms were associated with LuminA-HH subtype while MTHFR C677T showed association with HER-enriched (OR: 30.41, 95% CI: 6.47-142.91). Cytosolic serine hydroxymethyltransferase (cSHMT) conferred protection against basal-like breast cancer (OR: 0.47, 95% CI: 0.22-0.98). HER-enriched and basal-like subtypes showed positive association with familial breast cancer and inverse association with plasma folate. Hyperhomocysteinemia was observed in Luminal B and basal-like subtypes. Multiple linear regression models of aberrant one-carbon metabolism were found to be moderate predictors of breast cancer grade (area under the receiver operating characteristic curve, C = 0.72, 95% CI: 0.58-0.87, P = 0.008). To conclude, aberrations in one-carbon metabolism predict the subtype of breast cancer and disease progression.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22086855"
-},
-{
- "id": "doi:10.17161/2tmg0f25",
- "manubot_success": true,
- "title": "A Case of Very Late Onset Spinobulbar Muscular Atrophy with Normal Creatine Kinase",
- "type": "article-journal",
- "doi": "10.17161/2tmg0f25",
- "authors": [
- ["Joseph", "Conway"],
- ["Yuebing", "Li"],
- ["Sakhi", "Bhansali"]
- ],
- "publisher": "RRNMF Neuromuscular Journal",
- "issn": "",
- "date": "2024-12-17",
- "link": "https://doi.org/g8wt7z",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.17161/2tmg0f25"
-},
-{
- "id": "doi:10.21203/rs.3.rs-5989910/v1",
- "manubot_success": true,
- "title": "Novel ATXN10 repeat motif patterns in Peruvian families modify disease age at onset",
- "type": "manuscript",
- "doi": "10.21203/rs.3.rs-5989910/v1",
- "authors": [
- ["Kamilla", "Sedov"],
- ["Carla", "Manrique-Enciso"],
- ["Madison James", "Yang"],
- ["Ismael", "Araujo-Aliaga"],
- ["Egor", "Dolzhenko"],
- ["Samantha", "Kalla"],
- ["Sarah", "Kingan"],
- ["Elison", "Sarapura-Castro"],
- ["Andrea", "Rivera-Valdivia"],
- ["Maryenela", "Illanes-Manrique"],
- ["Mario", "Cornejo-Olivas"],
- ["Birgitt", "Schuele"]
- ],
- "publisher": "Springer Science and Business Media LLC",
- "issn": "",
- "date": "2025-02-12",
- "link": "https://doi.org/g9bpfv",
- "abstract": "Abstract\n Objectives: Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant disorder caused by large intronic expansions of pentanucleotide repeats in the ATXN10 gene. While various repeat motifs have been described, emerging evidence suggests that specific repeat motifs\u2014rather than merely repeat length alone\u2014can significantly modify disease features such as seizure prevalence and penetrance.\nMethods: We employed a novel multiplex 20-gene panel with Cas9-targeted, amplification-free long-read sequencing and optical genome mapping to elucidate ATXN10 repeat motif patterns and investigate potential genotype-phenotype correlations in index cases of six clinically well-characterized multigenerational SCA10 kindreds from Peru.\nResults: We detected ATXN10 repeat expansions ranging from 990 to 2002 pentanucleotide repeats (4.9 to 10 kb expansions) across six families. Importantly, we identified three mixed repeat motif patterns and ratios of (ATTCT)\u2099(ATTCC)\u2099, which were associated with differences in age at disease onset and anticipation.\nDiscussion: Specific ATXN10 repeat motif patterns and (ATTCT)n(ATTCC)n motif ratios may serve as modifiers of SCA10 age at onset rather than repeat length. ATXN10 repeat composition can only be fully resolved with long-read sequencing and makes it a fundamental diagnostic for clinical practice and genetic counseling. These findings underscore the need to adapt long-read sequencing clinical workflows to fully characterize large repeat expansions at the nucleotide level.
",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.21203/rs.3.rs-5989910/v1"
-},
-{
- "id": "doi:10.1212/NXG.0000000000200245",
- "manubot_success": true,
- "title": "Redefining the Pathogenic CAG Repeat Units Threshold in\n CACNA1A\n for Spinocerebellar Ataxia Type 6",
- "type": "article-journal",
- "doi": "10.1212/nxg.0000000000200245",
- "authors": [
- ["Yuya", "Hatano"],
- ["Tomohiko", "Ishihara"],
- ["Sachiko", "Hirokawa"],
- ["Hidetoshi", "Date"],
- ["Yuji", "Takahashi"],
- ["Hidehiro", "Mizusawa"],
- ["Osamu", "Onodera"]
- ],
- "publisher": "Neurology Genetics",
- "issn": "",
- "date": "2025-04-01",
- "link": "https://doi.org/g86sm6",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1212/nxg.0000000000200245"
-},
-{
- "id": "pmid:41820575",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41820575",
- "title": "A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions.",
- "type": "article-journal",
- "doi": "10.1038/s41588-026-02537-7",
- "authors": [
- ["Wouter", "De Coster"],
- ["Marleen", "Van den Broeck"],
- ["Matt", "Baker"],
- ["Nikhil B", "Ghayal"],
- ["Sarah", "Wynants"],
- ["Anthony", "Batzler"],
- ["Cyril", "Pottier"],
- ["Sara", "Alidadiani"],
- ["Fahri", "K\u00fc\u00e7\u00fckali"],
- ["Gregory D", "Jenkins"],
- ["Rafaela", "Policarpo"],
- ["Marka", "van Blitterswijk"],
- ["Mariely", "DeJesus-Hernandez"],
- ["Alexandra I", "Soto-Beasley"],
- ["J\u00falia", "Faura"],
- ["Elise", "Coopman"],
- ["Saskia", "Hutten"],
- ["Merel O", "Mol"],
- ["David", "Wallon"],
- ["Anne", "Sieben"],
- ["Elizabeth C", "Finger"],
- ["Melissa E", "Murray"],
- ["Shelley L", "Forrest"],
- ["Maria C", "Tartaglia"],
- ["Claire", "Troakes"],
- ["Jeroen G J", "van Rooij"],
- ["Aivi T", "Nguyen"],
- ["R Ross", "Reichard"],
- ["Natalie L", "Woodman"],
- ["Alissa L", "Nana"],
- ["Sandra", "Weintraub"],
- ["Tamar", "Gefen"],
- ["Bart", "De Vil"],
- ["Istvan", "Bodi"],
- ["Oscar L", "Lopez"],
- ["Susana", "Boluda"],
- ["Serge", "Belliard"],
- ["Florence", "Lebert"],
- ["Florent", "Marguet"],
- ["Qinwen", "Mao"],
- ["Marsel M", "Mesulam"],
- ["Adam L", "Boxer"],
- ["Mathieu", "Vandenbulcke"],
- ["EunRan", "Suh"],
- ["Jolien", "Schaeverbeke"],
- ["Jean-Charles", "Lambert"],
- ["Sonja W", "Scholz"],
- ["Clifton L", "Dalgard"],
- ["Bryan J", "Traynor"],
- ["Raphael J", "Gibbs"],
- ["Gerard D", "Schellenberg"],
- ["Dorothee", "Dormann"],
- ["Geert", "Joris"],
- ["Tim", "De Pooter"],
- ["Peter", "De Rijk"],
- ["Svenn", "D'Hert"],
- ["Jasper", "Van Dongen"],
- ["Julie", "van der Zee"],
- ["Mojca", "Strazisar"],
- ["Marla", "Gearing"],
- ["Thomas", "Kukar"],
- ["Margaret", "Flanagan"],
- ["Sebastiaan", "Engelborghs"],
- ["Bernardino", "Ghetti"],
- ["Kathy L", "Newell"],
- ["Andrew", "King"],
- ["Sigrun", "Roeber"],
- ["Howard J", "Rosen"],
- ["Salvatore", "Spina"],
- ["Patrick", "Cras"],
- ["Nil\u00fcfer", "Ertekin-Taner"],
- ["Zbigniew K", "Wszolek"],
- ["Ryan J", "Uitti"],
- ["William P", "Cheshire"],
- ["Wolfgang", "Singer"],
- ["Jochen", "Herms"],
- ["Keith A", "Josephs"],
- ["Jennifer L", "Whitwell"],
- ["Ronald C", "Petersen"],
- ["Florence", "Pasquier"],
- ["Ga\u00ebl", "Nicolas"],
- ["Rudolph", "Castellani"],
- ["Jonathan", "Glass"],
- ["Bruce L", "Miller"],
- ["Gabor G", "Kovacs"],
- ["Robert A", "Rissman"],
- ["Annie", "Hiniker"],
- ["Vincent", "Deramecourt"],
- ["Lee-Cyn", "Ang"],
- ["Jin", "Lee-Way"],
- ["Vivianna M", "Van Deerlin"],
- ["Brittany N", "Dugger"],
- ["Dietmar R", "Thal"],
- ["Lea T", "Grinberg"],
- ["Carlos", "Cruchaga"],
- ["Thomas", "Arzberger"],
- ["David G", "Munoz"],
- ["Julia", "Keith"],
- ["Lorne", "Zinman"],
- ["Ekaterina", "Rogaeva"],
- ["Edward B", "Lee"],
- ["Stephen J", "Haggarty"],
- ["Olaf", "Ansorge"],
- ["Masud", "Husain"],
- ["Glenda M", "Halliday"],
- ["Safa", "Al-Sarraj"],
- ["Owen A", "Ross"],
- ["Kristel", "Sleegers"],
- ["Rik", "Vandenberghe"],
- ["Bradley F", "Boeve"],
- ["Neill R", "Graff-Radford"],
- ["Julia", "Kofler"],
- ["Charles L", "White"],
- ["Tammaryn", "Lashley"],
- ["Manuela", "Neumann"],
- ["Joanna M", "Biernacka"],
- ["William W", "Seeley"],
- ["Harro", "Seelaar"],
- ["John C", "van Swieten"],
- ["Jonathan D", "Rohrer"],
- ["Dennis W", "Dickson"],
- ["Ian R A", "Mackenzie"],
- ["Rosa", "Rademakers"]
- ],
- "publisher": "Nature genetics",
- "issn": "1546-1718",
- "date": "2026-03-12",
- "abstract": "Atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions (aFTLD-U) is neuropathologically characterized by aggregation of the FET family of proteins and clinically manifests as sporadic young-onset frontotemporal dementia. Here we describe a major risk locus on chr15q14 identified through a genome-wide association study in 59 pathologically confirmed aFTLD-U cases and 3,153 controls (lead single nucleotide polymorphism rs549846383, P\u2009=\u20095.85\u2009\u00d7\u200910",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41820575"
-},
-{
- "id": "genereviews:NBK541729",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK541729/",
- "title": "Spinocerebellar Ataxia Type 37",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Antoni", "Matilla-Due\u00f1as"],
- ["Victor", "Volpini"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Spinocerebellar ataxia type 37 (SCA37) is characterized by adult onset, dysarthria, slowly progressive gait and limb ataxia with severe dysmetria in the lower extremities, mild dysmetria in the upper extremities, dysphagia, and abnormal ocular movements (dysmetric vertical saccades, irregular and slow vertical smooth pursuit, slow vertical optokinetic nystagmus, and oscillopsia (visual disturbance in which objects appear to oscillate). In most individuals, the initial signs/symptoms include falls, dysarthria, or clumsiness followed by a complete cerebellar syndrome. A distinctive clinical feature is the presence of altered vertical eye movements in early stages of the disease, even preceding ataxia symptoms. Clinical progression is slow and affected individuals usually become wheelchair bound between ten and 33 years after disease onset., The diagnosis of SCA37 is established in a proband by identification of a heterozygous ATTTC repeat insertion within DAB1 by molecular genetic testing. All affected persons have 31-75 ATTTC repeats, flanked on both sides by polymorphic ATTTT repeats over 58 units., Treatment of manifestations: Currently, no treatment reverts the course of the disease. Speech therapy to improve communication and ameliorate dysphagia; thickness modification of food and fluids to prevent aspiration; physical therapy to train balance; use of external devices (e.g., canes or walkers) when needed to avoid falls; occupational/behavioral therapy. Surveillance: Scale for the Assessment and Rating of Ataxia (SARA) score annually; electrooculographic tests may be performed every two years (cooperation required); brain MRI volumetry every two years., SCA37 is inherited in an autosomal dominant manner. All individuals diagnosed to date with SCA37 have an affected parent. Each child of an individual with SCA37 is at a 50% risk of inheriting the intronic ATTTC repeat insertion within DAB1. Prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible if the ATTTC repeat insertion within DAB1 has been identified in an affected family member.",
- "language": "eng",
- "note": "PMID: 31145571\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK541729"
-},
-{
- "id": "genereviews:NBK535148",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/books/NBK535148/",
- "title": "Resources for Genetics Professionals \u2014 Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Stephanie E.", "Wallace"],
- ["Lora JH", "Bean"]
- ],
- "publisher": "GeneReviews\u00ae [Internet]",
- "issn": "",
- "date": "2022-10-20",
- "abstract": "A nucleotide repeat is a sequence of nucleotides repeated a number of times in tandem; nucleotide repeats can occur within or near a gene. The size of nucleotide repeats varies: smaller numbers of repeats are common and not associated with phenotypic abnormalities; abnormally large numbers of repeats may be associated with phenotypic abnormalities and are classified as (in increasing order of size): mutable normal alleles, premutations, reduced-penetrance alleles, and full-penetrance alleles.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK535148"
-},
-{
- "id": "genereviews:NBK1333",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1333/",
- "title": "Spinal and Bulbar Muscular Atrophy",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Albert", "La Spada"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Spinal and bulbar muscular atrophy (SBMA) is a gradually progressive neuromuscular disorder in which degeneration of lower motor neurons results in muscle weakness, muscle atrophy, and fasciculations in affected males. Affected individuals often show gynecomastia, testicular atrophy, and reduced fertility as a result of mild androgen insensitivity., The diagnosis of SBMA is established in a male proband by the identification of a hemizygous expansion of a CAG trinucleotide repeat (>35 CAGs) in AR by molecular genetic testing., Treatment of manifestations: Use of braces and walkers for ambulation as needed as the disease progresses; standard treatments for dysarthria and dysphagia; breast reduction surgery for gynecomastia as needed; standard treatment per cardiologist and/or endocrinologist for cardiac manifestations and metabolic syndrome; psychosocial support and education to decrease stress and burden on caregivers. Surveillance: Annual assessment of strength, mobility, activities of daily living, speech, and feeding issues; annual assessment of pulmonary function in those with advanced disease; annual assessment of cholesterol and triglycerides, with hepatic function testing if elevated; annual assessment of cardiovascular health per cardiologist; assessment of need for family and caregiver support. Agents/circumstances to avoid: Individuals with a tendency to fall should avoid slippery or rough walking surfaces. Individuals with bulbar weakness should avoid foods that are difficult to chew and swallow, as these may pose a risk of choking or aspiration. Other: Clinical trials of anti-androgen drugs (e.g., leuprorelin) did not consistently reveal significant efficacy, but leuprorelin was efficacious as a treatment for dysphagia in a follow-up clinical trial in Japan, leading to its approval in Japan but not elsewhere. Based on animal studies, administration of testosterone and its analogs may worsen motor neuron disease., SBMA is inherited in an X-linked manner. Affected males who are fertile pass the expanded CAG repeat to each daughter. Carrier females have a 50% chance of transmitting the CAG trinucleotide expansion to each child; males who inherit it will be affected; females who inherit it will be carriers and will usually not be affected. Carrier testing for at-risk female relatives and prenatal testing for a pregnancy at increased risk are possible if the expanded CAG repeat has been identified in an affected family member.",
- "language": "eng",
- "note": "PMID: 20301508\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1333"
-},
-{
- "id": "genereviews:NBK1491",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1491/",
- "title": "DRPLA",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Silvia", "Prades"],
- ["Claudio", "Melo de Gusmao"],
- ["Silvia", "Grimaldi"],
- ["Yael", "Shiloh-Malawsky"],
- ["Thomas", "Felton"],
- ["Henry", "Houlden"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "DRPLA (dentatorubral-pallidoluysian atrophy) is a progressive neurologic disorder characterized by five cardinal features (irrespective of the age of onset): ataxia, cognitive decline, myoclonus, chorea, epilepsy, and psychiatric manifestations. Onset ranges from infancy to late adulthood (range: age 0-72 years; mean: age 31.5 years). The clinical presentation varies by age of onset: individuals with juvenile onset (before age 20 years) have myoclonus, epilepsy, and progressive intellectual deterioration, whereas individuals with adult onset (after age 20 years) have ataxia, choreoathetosis, and dementia or neuropsychiatric changes. Disease duration is on average eight years (range: 0-35 years) and age at death is on average 49 years (range: age 18-80 years)., The diagnosis of DRPLA is established in a proband with suggestive clinical findings and a heterozygous pathogenic CAG trinucleotide expansion in ATN1 identified by molecular genetic testing., Treatment of manifestations: Standard anti-seizure medications (ASMs) for seizures; appropriate psychotropic medications for psychiatric manifestations; symptomatic treatment of ataxia with riluzole and rehabilitation therapy; adaptation of environment and care to the level of dementia; appropriate educational programs for children. Agents/circumstances to avoid: General anesthesia can increase the risk of intra- and postoperative seizures. Pregnancy management: Because the use of ASMs during pregnancy may have an effect on the fetus, discussion of the risks and benefits of using an ASM during pregnancy should ideally occur prior to conception when transition to a lower-risk medication may be possible. The use of riluzole during pregnancy has not been well studied in humans., DRPLA is inherited in an autosomal dominant manner. The risk to the children of an affected individual of inheriting an expanded CAG repeat is 50%. The size of the repeat transmitted to the offspring depends on the size of the parent's repeat and the sex of the transmitting parent. Once an abnormal CAG repeat expansion in ATN1 has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 20301664\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1491"
-},
-{
- "id": "genereviews:NBK1281",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1281/",
- "title": "Friedreich Ataxia",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Sanjay I.", "Bidichandani"],
- ["Martin B.", "Delatycki"],
- ["Marek", "Napierala"],
- ["Antoine", "Duquette"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Typical Friedreich ataxia (FRDA) is characterized by progressive ataxia with onset from early childhood to early adulthood with mean age at onset from 10 to 15 years (range: age two years to the eighth decade). Ataxia, manifesting initially as poor balance when walking, is typically followed by upper-limb ataxia, dysarthria, dysphagia, peripheral motor and sensory neuropathy, spasticity, autonomic disturbance, and often abnormal eye movements and optic atrophy. Hypertrophic cardiomyopathy is present in about two thirds of individuals; occasionally it is diagnosed prior to the onset of ataxia. Diabetes mellitus and impaired glucose tolerance can also occur. Among individuals with FRDA, about 75% have \"typical Friedreich ataxia\" and about 25% of individuals with biallelic FXN full-penetrance GAA repeat expansions have \"atypical Friedreich ataxia\" that includes late-onset FRDA (LOFA) (i.e., onset after age 25 years), very late-onset FRDA (VLOFA) (i.e., onset after age 40 years), and FRDA with retained reflexes (FARR)., The diagnosis of Friedreich ataxia is established in a proband with suggestive findings and biallelic pathogenic variants in FXN identified by molecular genetic testing. The two classes of FXN pathogenic variants are (1) GAA repeat expansions and (2) FXN pathogenic sequence variants, including base substitutions and small indels or large deletions. Approximately 96% of individuals with FRDA have biallelic FXN GAA repeat expansions in intron 1; approximately 4% are compound heterozygotes for an FXN GAA repeat expansion and either an intragenic FXN pathogenic variant or a large deletion., Targeted therapy: Omaveloxolone, an Nrf2 activator, has been shown to slow the progression of FRDA; it is approved in the United States and Europe for individuals age 16 years and older. Supportive care: Multidisciplinary care by specialists in relevant fields, such as neurologists, ophthalmologists, orthoptists, physical therapists, occupational therapists, cardiologists, endocrinologists, speech and language therapists, and psychologists. Surveillance: Routinely scheduled evaluations by the treating multidisciplinary specialists. Agents/circumstances to avoid: Use and misuse of illegal and controlled drugs, as they may affect neuronal well-being and, thus, exacerbate disease manifestations; medications that are toxic or potentially toxic to people with neuropathy; circumstances that increase the risk of falling (e.g., rough surfaces). Evaluation of relatives at risk: If at-risk minor and adult sibs of an individual with FRDA have not had testing for the FXN pathogenic variant(s) in their family, they should be offered echocardiography surveillance to determine if treatable cardiac manifestations of presymptomatic disease are present. Pregnancy management: Worsening, improving, or unchanged manifestations during pregnancy were each reported with equal frequency by women with FRDA. Close cardiac monitoring and regular testing for diabetes mellitus during pregnancy is recommended in any woman with FRDA. If cesarean section is required, epidural or spinal anesthesia is recommended rather than general anesthesia if possible., FRDA is inherited in an autosomal recessive manner. If both parents are heterozygous for a pathogenic variant in FXN, each sib of an affected individual has at conception a 25% chance of inheriting biallelic FRDA-related genetic alterations, a 50% chance of inheriting one FRDA-related genetic alteration, and a 25% chance of inheriting neither of the familial FRDA-related genetic alterations. Sibs who inherit biallelic FXN pathogenic variants will be affected. Once the FRDA-related genetic alterations have been identified in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 20301458\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1281"
-},
-{
- "id": "omim:309548",
- "manubot_success": false,
- "link": "https://omim.org/entry/309548",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/309548. Skipping"
-},
-{
- "id": "omim:309510",
- "manubot_success": false,
- "link": "https://omim.org/entry/309510",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/309510. Skipping"
-},
-{
- "id": "omim:308350",
- "manubot_success": false,
- "link": "https://omim.org/entry/308350",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/308350. Skipping"
-},
-{
- "id": "omim:300004",
- "manubot_success": false,
- "link": "https://omim.org/entry/300004",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/300004. Skipping"
-},
-{
- "id": "omim:300215",
- "manubot_success": false,
- "link": "https://omim.org/entry/300215",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/300215. Skipping"
-},
-{
- "id": "omim:183090",
- "manubot_success": false,
- "link": "https://omim.org/entry/183090",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/183090. Skipping"
-},
-{
- "id": "omim:164500",
- "manubot_success": false,
- "link": "https://omim.org/entry/164500",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/164500. Skipping"
-},
-{
- "id": "omim:608768",
- "manubot_success": false,
- "link": "https://omim.org/entry/608768",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/608768. Skipping"
-},
-{
- "id": "omim:117210",
- "manubot_success": false,
- "link": "https://omim.org/entry/117210",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/117210. Skipping"
-},
-{
- "id": "omim:105500",
- "manubot_success": false,
- "link": "https://omim.org/entry/105500",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/105500. Skipping"
-},
-{
- "id": "omim:147791",
- "manubot_success": false,
- "link": "https://omim.org/entry/147791",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/147791. Skipping"
-},
-{
- "id": "omim:609812",
- "manubot_success": false,
- "link": "https://omim.org/entry/609812",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/609812. Skipping"
-},
-{
- "id": "omim:615945",
- "manubot_success": false,
- "link": "https://omim.org/entry/615945",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/615945. Skipping"
-},
-{
- "id": "omim:136630",
- "manubot_success": false,
- "link": "https://omim.org/entry/136630",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/136630. Skipping"
-},
-{
- "id": "omim:229300",
- "manubot_success": false,
- "link": "https://omim.org/entry/229300",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/229300. Skipping"
-},
-{
- "id": "omim:618412",
- "manubot_success": false,
- "link": "https://omim.org/entry/618412",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/618412. Skipping"
-},
-{
- "id": "omim:186000",
- "manubot_success": false,
- "link": "https://omim.org/entry/186000",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/186000. Skipping"
-},
-{
- "id": "omim:164310",
- "manubot_success": false,
- "link": "https://omim.org/entry/164310",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/164310. Skipping"
-},
-{
- "id": "omim:613608",
- "manubot_success": false,
- "link": "https://omim.org/entry/613608",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/613608. Skipping"
-},
-{
- "id": "omim:609893",
- "manubot_success": false,
- "link": "https://omim.org/entry/609893",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/609893. Skipping"
-},
-{
- "id": "omim:105400",
- "manubot_success": false,
- "link": "https://omim.org/entry/105400",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/105400. Skipping"
-},
-{
- "id": "omim:614153",
- "manubot_success": false,
- "link": "https://omim.org/entry/614153",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/614153. Skipping"
-},
-{
- "id": "omim:603472",
- "manubot_success": false,
- "link": "https://omim.org/entry/603472",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/603472. Skipping"
-},
-{
- "id": "omim:618637",
- "manubot_success": false,
- "link": "https://omim.org/entry/618637",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/618637. Skipping"
-},
-{
- "id": "omim:164300",
- "manubot_success": false,
- "link": "https://omim.org/entry/164300",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/164300. Skipping"
-},
-{
- "id": "omim:601846",
- "manubot_success": false,
- "link": "https://omim.org/entry/601846",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/601846. Skipping"
-},
-{
- "id": "omim:258450",
- "manubot_success": false,
- "link": "https://omim.org/entry/258450",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/258450. Skipping"
-},
-{
- "id": "omim:157640",
- "manubot_success": false,
- "link": "https://omim.org/entry/157640",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/157640. Skipping"
-},
-{
- "id": "omim:604326",
- "manubot_success": false,
- "link": "https://omim.org/entry/604326",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/604326. Skipping"
-},
-{
- "id": "omim:616488",
- "manubot_success": false,
- "link": "https://omim.org/entry/616488",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/616488. Skipping"
-},
-{
- "id": "omim:601068",
- "manubot_success": false,
- "link": "https://omim.org/entry/601068",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/601068. Skipping"
-},
-{
- "id": "omim:300123",
- "manubot_success": false,
- "link": "https://omim.org/entry/300123",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/300123. Skipping"
-},
-{
- "id": "omim:607136,@pmid:35053321,@genereviews:NBK1438,@pmid:12805114,@genereviews:NBK1438",
- "manubot_success": false,
- "link": "https://omim.org/entry/607136,@pmid:35053321,@genereviews:NBK1438,@pmid:12805114,@genereviews:NBK1438",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/607136,@pmid:35053321,@genereviews:NBK1438,@pmid:12805114,@genereviews:NBK1438. Skipping"
-},
-{
- "id": "omim:187500",
- "manubot_success": false,
- "link": "https://omim.org/entry/187500",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/187500. Skipping"
-},
-{
- "id": "omim:613267",
- "manubot_success": false,
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- "note": "WARNING: Manubot does not support url:https://omim.org/entry/613267. Skipping"
-},
-{
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- "manubot_success": false,
- "link": "https://omim.org/entry/619216",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/619216. Skipping"
-},
-{
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- "manubot_success": false,
- "link": "https://omim.org/entry/600223",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/600223. Skipping"
-},
-{
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- "manubot_success": false,
- "link": "https://omim.org/entry/314390",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/314390. Skipping"
-},
-{
- "id": "omim:616181",
- "manubot_success": false,
- "link": "https://omim.org/entry/616181",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/616181. Skipping"
-},
-{
- "id": "malacard:KNS007",
- "manubot_success": false,
- "link": "https://www.malacards.org/card/KNS007",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.malacards.org/card/KNS007']' timed out after 3 seconds"
-},
-{
- "id": "genereviews:NBK1384",
- "manubot_success": false,
- "link": "https://www.ncbi.nlm.nih.gov/books/NBK1384",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1384']' timed out after 3 seconds"
-},
-{
- "id": "genereviews:NBK1305",
- "manubot_success": false,
- "link": "https://www.ncbi.nlm.nih.gov/books/NBK1305",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1305']' timed out after 3 seconds"
-},
{
"id": "isbn:978-3-031-66932-3",
"manubot_success": false,
"note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'isbn:978-3-031-66932-3']' timed out after 3 seconds"
-},
-{
- "id": "pmid:25101480",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/25101480",
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-},
-{
- "id": "pmid:29939637",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/29939637",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
-{
- "id": "pmid:35245110,@genereviews:NBK1438,@pmid:29100084,@pmid:10484774,@mondo:0011781",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/35245110,@genereviews:NBK1438,@pmid:29100084,@pmid:10484774,@mondo:0011781",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
-{
- "id": "pmid:39666847",
- "manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/39666847",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
}]
\ No newline at end of file
diff --git a/data/STRchive-loci.json b/data/STRchive-loci.json
index 30e17c29..b12c20e3 100644
--- a/data/STRchive-loci.json
+++ b/data/STRchive-loci.json
@@ -261,7 +261,7 @@
"locus_tags": ["contraction", "somatic_instability", "anticipation", "paternal_expansion", "length_affects_severity", "length_affects_penetrance", "length_affects_onset"],
"disease_tags": [],
"references": ["pmid:11436124", "pmid:15851746", "doi:10.17161/2tmg0f25", "pmid:29398703", "pmid:36169768", "pmid:22609045", "genereviews:NBK1333", "pmid:24041967", "pmid:35245110", "pmid:36797998", "pmid:10398229", "pmid:34922802", "pmid:20184516", "pmid:37628685", "orphanet:481", "pmid:37578398", "pmid:2062380", "pmid:15313856", "mondo:0010735"],
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},
{
"id": "EIEE1_ARX",
@@ -459,7 +459,7 @@
"locus_tags": ["anticipation", "somatic_instability", "paternal_expansion", "length_affects_onset", "length_affects_severity", "length_affects_phenotype"],
"disease_tags": ["ataxia", "epilepsy"],
"references": ["pmid:6808417", "genereviews:NBK1491", "pmid:11160976", "pmid:35245110", "pmid:41147955", "pmid:7842016", "mondo:0007435"],
- "additional_literature": ["pmid:41624332", "pmid:41355374", "pmid:41254939", "pmid:41082794", "pmid:40832356", "pmid:40488180", "pmid:40450087", "pmid:40340521", "pmid:40298952", "pmid:40263757", "pmid:40237283", "pmid:39820777", "pmid:39812846", "pmid:39742457", "pmid:39224955", "pmid:38961870", "pmid:38227102", "pmid:38152578", "pmid:37243799", "pmid:36599645", "pmid:36530930", "pmid:35182509", "pmid:34968706", "pmid:34022586", "pmid:33106889", "pmid:32711193", "pmid:32675418", "pmid:32129252", "pmid:31493762", "pmid:30891880", "pmid:30827498", "pmid:30615214", "pmid:30314815", "pmid:30120431", "pmid:29801887", "pmid:29715545", "pmid:29249939", "pmid:28782341", "pmid:28585930", "pmid:27896316", "pmid:27400454", "pmid:26374734", "pmid:26077168", "pmid:25842919", "pmid:25466696", "pmid:24972706", "pmid:24534762", "pmid:23933208", "pmid:23364790", "pmid:23263592", "pmid:23026538", "pmid:22527233", "pmid:22520093", "pmid:22342974", "pmid:22297462", "pmid:21108634", "pmid:20589872", "pmid:19429075", "pmid:19370769", "pmid:19259763", "pmid:19039037", "pmid:18182848", "pmid:17965145", "pmid:17961920", "pmid:17420317", "pmid:16967484", "pmid:16858508", "pmid:16251216", "pmid:16199124", "pmid:15553088", "pmid:15223312", "pmid:15148151", "pmid:15133824", "pmid:14756671", "pmid:12925365", "pmid:12805114", "pmid:12764052", "pmid:12614315", "pmid:12235319", "pmid:12042281", "pmid:11939898", "pmid:11807410", "pmid:11711886", "pmid:11709002", "pmid:11689158", "pmid:11574112", "pmid:11198291", "pmid:10942107", "pmid:10894992", "pmid:10814707", "pmid:10768629", "pmid:10766906", "pmid:10677044", "pmid:10564878", "pmid:10515170", "pmid:10486315", "pmid:10453742", "pmid:10332026", "pmid:10085113", "pmid:10084125", "pmid:9949204", "pmid:9887337", "pmid:9758625", "pmid:9705838", "pmid:9696528", "pmid:9647693", "pmid:9613852", "pmid:9507387", "pmid:9462738", "pmid:9385362", "pmid:9361003", "pmid:9187480", "pmid:9124808", "pmid:9109905", "pmid:9106530", "pmid:9050922", "pmid:9020849", "pmid:8962095", "pmid:9001798", "pmid:8651298", "pmid:8655136", "pmid:8780110", "pmid:8644735", "pmid:8852663", "pmid:8926495", "pmid:8559378", "pmid:8557266", "pmid:7633415", "pmid:7868125", "pmid:7824105", "pmid:7885531", "pmid:8136840", "pmid:8136826", "pmid:7734112"]
+ "additional_literature": ["pmid:42196324", "pmid:41624332", "pmid:41355374", "pmid:41254939", "pmid:41082794", "pmid:40832356", "pmid:40488180", "pmid:40450087", "pmid:40340521", "pmid:40298952", "pmid:40263757", "pmid:40237283", "pmid:39820777", "pmid:39812846", "pmid:39742457", "pmid:39224955", "pmid:38961870", "pmid:38227102", "pmid:38152578", "pmid:37243799", "pmid:36599645", "pmid:36530930", "pmid:35182509", "pmid:34968706", "pmid:34022586", "pmid:33106889", "pmid:32711193", "pmid:32675418", "pmid:32129252", "pmid:31493762", "pmid:30891880", "pmid:30827498", "pmid:30615214", "pmid:30314815", "pmid:30120431", "pmid:29801887", "pmid:29715545", "pmid:29249939", "pmid:28782341", "pmid:28585930", "pmid:27896316", "pmid:27400454", "pmid:26374734", "pmid:26077168", "pmid:25842919", "pmid:25466696", "pmid:24972706", "pmid:24534762", "pmid:23933208", "pmid:23364790", "pmid:23263592", "pmid:23026538", "pmid:22527233", "pmid:22520093", "pmid:22342974", "pmid:22297462", "pmid:21108634", "pmid:20589872", "pmid:19429075", "pmid:19370769", "pmid:19259763", "pmid:19039037", "pmid:18182848", "pmid:17965145", "pmid:17961920", "pmid:17420317", "pmid:16967484", "pmid:16858508", "pmid:16251216", "pmid:16199124", "pmid:15553088", "pmid:15223312", "pmid:15148151", "pmid:15133824", "pmid:14756671", "pmid:12925365", "pmid:12805114", "pmid:12764052", "pmid:12614315", "pmid:12235319", "pmid:12042281", "pmid:11939898", "pmid:11807410", "pmid:11711886", "pmid:11709002", "pmid:11689158", "pmid:11574112", "pmid:11198291", "pmid:10942107", "pmid:10894992", "pmid:10814707", "pmid:10768629", "pmid:10766906", "pmid:10677044", "pmid:10564878", "pmid:10515170", "pmid:10486315", "pmid:10453742", "pmid:10332026", "pmid:10085113", "pmid:10084125", "pmid:9949204", "pmid:9887337", "pmid:9758625", "pmid:9705838", "pmid:9696528", "pmid:9647693", "pmid:9613852", "pmid:9507387", "pmid:9462738", "pmid:9385362", "pmid:9361003", "pmid:9187480", "pmid:9124808", "pmid:9109905", "pmid:9106530", "pmid:9050922", "pmid:9020849", "pmid:8962095", "pmid:9001798", "pmid:8651298", "pmid:8655136", "pmid:8780110", "pmid:8644735", "pmid:8852663", "pmid:8926495", "pmid:8559378", "pmid:8557266", "pmid:7633415", "pmid:7868125", "pmid:7824105", "pmid:7885531", "pmid:8136840", "pmid:8136826", "pmid:7734112"]
},
{
"id": "SCA1_ATXN1",
@@ -525,7 +525,7 @@
"locus_tags": ["somatic_instability", "anticipation", "paternal_expansion", "length_affects_onset", "length_affects_penetrance", "length_affects_severity", "motif_affects_instability", "motif_affects_onset", "motif_affects_penetrance", "motif_affects_severity"],
"disease_tags": ["spinocerebellar_ataxia"],
"references": ["url:https://www.uptodate.com/contents/autosomal-dominant-spinocerebellar-ataxias", "pmid:3165612", "pmid:8825276", "genereviews:NBK1184", "pmid:35573049", "pmid:37906407", "pmid:35245110", "pmid:23935513", "pmid:8358429", "mondo:0008119"],
- "additional_literature": ["pmid:41727128", "pmid:41435767", "pmid:41426430", "pmid:41254939", "pmid:41149812", "pmid:40900235", "pmid:40488180", "pmid:40450087", "pmid:39820777", "pmid:39456985", "pmid:39289638", "pmid:39211226", "pmid:38961870", "pmid:38626762", "pmid:38585669", "pmid:38308084", "pmid:38125008", "pmid:37827155", "pmid:37776516", "pmid:37397792", "pmid:37146135", "pmid:37043475", "pmid:36599645", "pmid:36549973", "pmid:36291186", "pmid:35869263", "pmid:35525134", "pmid:35182509", "pmid:34830553", "pmid:34635619", "pmid:34600502", "pmid:34372915", "pmid:34179866", "pmid:33502644", "pmid:33276461", "pmid:33159825", "pmid:32954321", "pmid:32761094", "pmid:32580238", "pmid:32339968", "pmid:31940111", "pmid:31810584", "pmid:31645175", "pmid:30891880", "pmid:30729852", "pmid:30615214", "pmid:30324307", "pmid:30314815", "pmid:30120431", "pmid:30108484", "pmid:29845242", "pmid:29656178", "pmid:29497168", "pmid:29274668", "pmid:29249939", "pmid:29057148", "pmid:28585930", "pmid:28444220", "pmid:26077168", "pmid:25595967", "pmid:25344417", "pmid:25255716", "pmid:24972706", "pmid:24594842", "pmid:24534762", "pmid:23197749", "pmid:22884877", "pmid:18337722", "pmid:18301861", "pmid:17961920", "pmid:17420317", "pmid:17116127", "pmid:15300851"]
+ "additional_literature": ["pmid:42196324", "pmid:41727128", "pmid:41435767", "pmid:41426430", "pmid:41254939", "pmid:41149812", "pmid:40900235", "pmid:40488180", "pmid:40450087", "pmid:39820777", "pmid:39456985", "pmid:39289638", "pmid:39211226", "pmid:38961870", "pmid:38626762", "pmid:38585669", "pmid:38308084", "pmid:38125008", "pmid:37827155", "pmid:37776516", "pmid:37397792", "pmid:37146135", "pmid:37043475", "pmid:36599645", "pmid:36549973", "pmid:36291186", "pmid:35869263", "pmid:35525134", "pmid:35182509", "pmid:34830553", "pmid:34635619", "pmid:34600502", "pmid:34372915", "pmid:34179866", "pmid:33502644", "pmid:33276461", "pmid:33159825", "pmid:32954321", "pmid:32761094", "pmid:32580238", "pmid:32339968", "pmid:31940111", "pmid:31810584", "pmid:31645175", "pmid:30891880", "pmid:30729852", "pmid:30615214", "pmid:30324307", "pmid:30314815", "pmid:30120431", "pmid:30108484", "pmid:29845242", "pmid:29656178", "pmid:29497168", "pmid:29274668", "pmid:29249939", "pmid:29057148", "pmid:28585930", "pmid:28444220", "pmid:26077168", "pmid:25595967", "pmid:25344417", "pmid:25255716", "pmid:24972706", "pmid:24594842", "pmid:24534762", "pmid:23197749", "pmid:22884877", "pmid:18337722", "pmid:18301861", "pmid:17961920", "pmid:17420317", "pmid:17116127", "pmid:15300851"]
},
{
"id": "SCA10_ATXN10",
@@ -657,7 +657,7 @@
"locus_tags": ["somatic_instability", "anticipation", "paternal_expansion", "maternal_expansion", "length_affects_onset", "length_affects_penetrance", "length_affects_phenotype", "length_affects_severity", "motif_affects_instability", "motif_affects_phenotype", "proposed_modifier"],
"disease_tags": ["spinocerebellar_ataxia"],
"references": ["genereviews:NBK1275", "omim:183090", "pmid:37906407", "pmid:12116207", "pmid:30533529", "pmid:25285812", "pmid:32954321", "pmid:39956874", "pmid:29100084", "pmid:8896556", "mondo:0008458"],
- "additional_literature": ["pmid:42019185", "pmid:41912844", "pmid:41876820", "pmid:41771688", "pmid:41728197", "pmid:41693683", "pmid:41683965", "pmid:41630926", "pmid:41435767", "pmid:41426430", "pmid:41373690", "pmid:41359433", "pmid:41310328", "pmid:41298695", "pmid:41196070", "pmid:41149812", "pmid:41082794", "pmid:41077586", "pmid:41071260", "pmid:41009775", "pmid:41001200", "pmid:40908144", "pmid:40906330", "pmid:40900235", "pmid:40746751", "pmid:40684213", "pmid:40556342", "pmid:40488180", "pmid:40346885", "pmid:40220918", "pmid:40004498", "pmid:39940702", "pmid:39820777", "pmid:39812846", "pmid:39804470", "pmid:39571249", "pmid:39521966", "pmid:39512795", "pmid:39457708", "pmid:39420034", "pmid:39317855", "pmid:39209824", "pmid:39200113", "pmid:39048885", "pmid:39004246", "pmid:38961870", "pmid:38715656", "pmid:38667292", "pmid:38642323", "pmid:38626762", "pmid:38585669", "pmid:38419144", "pmid:38397958", "pmid:38340219", "pmid:38239855", "pmid:38227102", "pmid:38165578", 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},
{
"id": "SCA3_ATXN3",
@@ -723,7 +723,7 @@
"locus_tags": ["somatic_instability", "anticipation", "paternal_expansion", "maternal_expansion", "length_affects_onset", "length_affects_phenotype", "length_affects_severity"],
"disease_tags": ["spinocerebellar_ataxia"],
"references": ["genereviews:NBK1196", "pmid:40004498", "pmid:30414314", "pmid:36169768", "pmid:37906407", "pmid:35245110", "pmid:39731318", "pmid:39699045", "pmid:29100084", "genereviews:NBK557816", "pmid:7874163", "mondo:0007182", "pmid:40684213"],
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},
{
"id": "SCA7_ATXN7",
@@ -875,7 +875,7 @@
"locus_tags": ["somatic_instability", "anticipation", "maternal_expansion", "motif_affects_onset", "motif_affects_penetrance"],
"disease_tags": ["spinocerebellar_ataxia"],
"references": ["genereviews:NBK1268", "doi:10.1101/gr.279634.124", "omim:608768", "pmid:16804541", "pmid:20373340", "pmid:28451643", "pmid:34632710", "pmid:29100084", "pmid:10192387", "mondo:0012116"],
- "additional_literature": ["pmid:41771688", "pmid:41762523", "pmid:41353794", "pmid:41082794", "pmid:41079917", "pmid:41074692", "pmid:41001200", "pmid:40906330", "pmid:40890648", "pmid:40844737", "pmid:40765612", "pmid:40488180", "pmid:40007153", "pmid:38961870", "pmid:38227102", "pmid:38165578", "pmid:38152578", "pmid:37906407", "pmid:37848721", "pmid:37146135", "pmid:37003406", "pmid:36703300", "pmid:36530930", "pmid:34622207", "pmid:34600502", "pmid:34284285", "pmid:33526774", "pmid:33502644", "pmid:31471687", "pmid:30109267", "pmid:29316893", "pmid:29111027", "pmid:28782341", "pmid:28229454", "pmid:27896316", "pmid:26374734", "pmid:26077168", "pmid:25466696", "pmid:23711133", "pmid:23026538", "pmid:22581592", "pmid:22520093", "pmid:22297462", "pmid:22053702", "pmid:21173221", "pmid:20403608", "pmid:19259763", "pmid:19229559", "pmid:18684474", "pmid:18418692", "pmid:17961920", "pmid:17005861", "pmid:16184604", "pmid:16054804", "pmid:15553088", "pmid:15148151", "pmid:15080863", "pmid:14972680", "pmid:14966163", "pmid:14960773", "pmid:14756671", "pmid:12838526", "pmid:12764052", "pmid:12545428", "pmid:12505613", "pmid:12470185", "pmid:12431257", "pmid:12372061", "pmid:12140678", "pmid:12042281", "pmid:11939898", "pmid:11839840", "pmid:11807410", "pmid:11708995", "pmid:11591855", "pmid:11448300", "pmid:11160961", "pmid:11121196", "pmid:11102643", "pmid:11030410", "pmid:10976642", "pmid:10958651", "pmid:10785256", "pmid:10712198", "pmid:10700168", "pmid:10690991"]
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},
{
"id": "SCA31_BEAN1",
@@ -1006,8 +1006,8 @@
"webstr_hg19": ["STR_1475506"],
"locus_tags": ["length_affects_phenotype", "length_affects_onset"],
"disease_tags": ["phenotypic_spectrum"],
- "references": ["genereviews:NBK268647", "omim:105500", "pmid:37847372", "pmid:39999167", "pmid:37388914", "pmid:22406228", "stripy:C9ORF72", "pmid:28319737", "pmid:31315673", "pmid:38099605", "pmid:31048495", "pmid:39709476", "pmid:28522837", "pmid:38149039", "pmid:39315390", "pmid:21944778", "pmid:39349043", "pmid:41074692"],
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},
{
"id": "SCA6_CACNA1A",
@@ -1072,8 +1072,8 @@
"webstr_hg19": ["Expansion_SCA6/CACNA1A"],
"locus_tags": ["length_affects_phenotype", "length_affects_penetrance", "length_affects_onset"],
"disease_tags": ["spinocerebellar_ataxia"],
- "references": ["genereviews:NBK1140", "pmid:23331413", "doi:10.1212/NXG.0000000000200245", "pmid:29100084", "pmid:8988170", "mondo:0008457", "pmid:41358280"],
- "additional_literature": ["pmid:42038259", "pmid:41951733", "pmid:41771688", "pmid:41762523", "pmid:41612618", "pmid:41082794", "pmid:41009775", "pmid:40906330", "pmid:40900235", "pmid:40879304", "pmid:40746751", "pmid:40488180", "pmid:40189664", "pmid:39812846", "pmid:39571249", "pmid:39152783", "pmid:39048885", "pmid:38961870", "pmid:38227102", "pmid:38165578", "pmid:38152578", "pmid:37848721", "pmid:37307504", "pmid:37301203", "pmid:36618024", "pmid:36599645", "pmid:36530930", "pmid:35962273", "pmid:35188716", "pmid:35182509", "pmid:35052497", "pmid:34647648", "pmid:34600502", "pmid:34565721", "pmid:34371182", "pmid:34159894", "pmid:33502644", "pmid:33121221", "pmid:32888184", "pmid:32822634", "pmid:31522753", "pmid:30891880", "pmid:30591349", "pmid:30342765", "pmid:30314815", "pmid:30120431", "pmid:30078120", "pmid:29959555", "pmid:29553382", "pmid:29367260", "pmid:29316893", "pmid:29249939", "pmid:29111027", "pmid:29057148", "pmid:28946818", "pmid:28782341", "pmid:28585930", "pmid:28444220", "pmid:28131213", "pmid:27979829", "pmid:27896316", "pmid:27848087", "pmid:27806289", "pmid:27412786", "pmid:27400454", "pmid:27333979", "pmid:26730403", "pmid:26377379", "pmid:26374734", "pmid:26354989", "pmid:26077168", "pmid:26054379", "pmid:25634432", "pmid:25624155", "pmid:25466696", "pmid:24780882", "pmid:24534762", "pmid:24486772", "pmid:24209901", "pmid:23423669", "pmid:23407676", "pmid:23368522", "pmid:23026538", "pmid:22520093", "pmid:26859398", "pmid:26676458", "pmid:21832228", "pmid:21550405", "pmid:20069235", "pmid:19631275", "pmid:19429075", "pmid:19259763", "pmid:19224313", "pmid:18949263", "pmid:18759344", "pmid:18687887", "pmid:18685131", "pmid:18684474", "pmid:18506570", "pmid:18418678", "pmid:18285829", "pmid:18074367", "pmid:17961920", "pmid:17682009", "pmid:17516099", "pmid:17420317", "pmid:16396623", "pmid:16389595", "pmid:16310805", "pmid:16000334", "pmid:15875905", "pmid:15747371", "pmid:15553088", "pmid:15148151", "pmid:15080863", "pmid:15026782", "pmid:14967767", "pmid:14966163", "pmid:14756671", "pmid:14534930", "pmid:12810491", "pmid:12764052", "pmid:12676347", "pmid:12614315", "pmid:12545428", "pmid:11939898", "pmid:11889231", "pmid:11839840", "pmid:11804332", "pmid:11717352", "pmid:11708993", "pmid:11448300", "pmid:11355155", "pmid:11341481", "pmid:11311290", "pmid:11176970", "pmid:11160961", "pmid:10369884", "pmid:11081813", "pmid:11030410", "pmid:10985694", "pmid:10964945", "pmid:10945665", "pmid:10942107", "pmid:10894992", "pmid:10785256", "pmid:10768629", "pmid:10766906", "pmid:10690991", "pmid:10674974", "pmid:10601803", "pmid:10453742", "pmid:10442462", "pmid:10369863", "pmid:10369828", "pmid:10366652", "pmid:10225349", "pmid:9973298", "pmid:9915947", "pmid:9879686", "pmid:9855520", "pmid:9779664", "pmid:9758625", "pmid:9741473", "pmid:9696528", "pmid:9674805", "pmid:9613852", "pmid:9600677", "pmid:9559993", "pmid:9507387", "pmid:9436730", "pmid:9385362", "pmid:9371901", "pmid:9371900", "pmid:9403486", "pmid:9403480", "pmid:9345107", "pmid:9339681", "pmid:9302278", "pmid:9311738", "pmid:9259275", "pmid:9259274", "pmid:10464657", "pmid:9043864"]
+ "references": ["genereviews:NBK1140", "pmid:23331413", "doi:10.1212/NXG.0000000000200245", "pmid:41951733", "pmid:29100084", "pmid:8988170", "mondo:0008457", "pmid:41358280"],
+ "additional_literature": ["pmid:42196324", "pmid:42038259", "pmid:41771688", "pmid:41762523", "pmid:41612618", "pmid:41082794", "pmid:41009775", "pmid:40906330", "pmid:40900235", "pmid:40879304", "pmid:40746751", "pmid:40488180", "pmid:40189664", "pmid:39812846", "pmid:39571249", "pmid:39152783", "pmid:39048885", "pmid:38961870", "pmid:38227102", "pmid:38165578", "pmid:38152578", "pmid:37848721", "pmid:37307504", "pmid:37301203", "pmid:36618024", "pmid:36599645", "pmid:36530930", "pmid:35962273", "pmid:35188716", "pmid:35182509", "pmid:35052497", "pmid:34647648", "pmid:34600502", "pmid:34565721", "pmid:34371182", "pmid:34159894", "pmid:33502644", "pmid:33121221", "pmid:32888184", "pmid:32822634", "pmid:31522753", "pmid:30891880", "pmid:30591349", "pmid:30342765", "pmid:30314815", "pmid:30120431", "pmid:30078120", "pmid:29959555", "pmid:29553382", "pmid:29367260", "pmid:29316893", "pmid:29249939", "pmid:29111027", "pmid:29057148", "pmid:28946818", "pmid:28782341", "pmid:28585930", "pmid:28444220", "pmid:28131213", "pmid:27979829", "pmid:27896316", "pmid:27848087", "pmid:27806289", "pmid:27412786", "pmid:27400454", "pmid:27333979", "pmid:26730403", "pmid:26377379", "pmid:26374734", "pmid:26354989", "pmid:26077168", "pmid:26054379", "pmid:25634432", "pmid:25624155", "pmid:25466696", "pmid:24780882", "pmid:24534762", "pmid:24486772", "pmid:24209901", "pmid:23423669", "pmid:23407676", "pmid:23368522", "pmid:23026538", "pmid:22520093", "pmid:26859398", "pmid:26676458", "pmid:21832228", "pmid:21550405", "pmid:20069235", "pmid:19631275", "pmid:19429075", "pmid:19259763", "pmid:19224313", "pmid:18949263", "pmid:18759344", "pmid:18687887", "pmid:18685131", "pmid:18684474", "pmid:18506570", "pmid:18418678", "pmid:18285829", "pmid:18074367", "pmid:17961920", "pmid:17682009", "pmid:17516099", "pmid:17420317", "pmid:16396623", "pmid:16389595", "pmid:16310805", "pmid:16000334", "pmid:15875905", "pmid:15747371", "pmid:15553088", "pmid:15148151", "pmid:15080863", "pmid:15026782", "pmid:14967767", "pmid:14966163", "pmid:14756671", "pmid:14534930", "pmid:12810491", "pmid:12764052", "pmid:12676347", "pmid:12614315", "pmid:12545428", "pmid:11939898", "pmid:11889231", "pmid:11839840", "pmid:11804332", "pmid:11717352", "pmid:11708993", "pmid:11448300", "pmid:11355155", "pmid:11341481", "pmid:11311290", "pmid:11176970", "pmid:11160961", "pmid:10369884", "pmid:11081813", "pmid:11030410", "pmid:10985694", "pmid:10964945", "pmid:10945665", "pmid:10942107", "pmid:10894992", "pmid:10785256", "pmid:10768629", "pmid:10766906", "pmid:10690991", "pmid:10674974", "pmid:10601803", "pmid:10453742", "pmid:10442462", "pmid:10369863", "pmid:10369828", "pmid:10366652", "pmid:10225349", "pmid:9973298", "pmid:9915947", "pmid:9879686", "pmid:9855520", "pmid:9779664", "pmid:9758625", "pmid:9741473", "pmid:9696528", "pmid:9674805", "pmid:9613852", "pmid:9600677", "pmid:9559993", "pmid:9507387", "pmid:9436730", "pmid:9385362", "pmid:9371901", "pmid:9371900", "pmid:9403486", "pmid:9403480", "pmid:9345107", "pmid:9339681", "pmid:9302278", "pmid:9311738", "pmid:9259275", "pmid:9259274", "pmid:10464657", "pmid:9043864"]
},
{
"id": "JBS_CBL",
@@ -1290,8 +1290,8 @@
"webstr_hg19": [],
"locus_tags": ["somatic_instability", "motif_affects_instability"],
"disease_tags": ["myotonic_dystrophy"],
- "references": ["pmid:29086017", "pmid:31159885", "pmid:22140091", "pmid:38467784", "pmid:39643839", "genereviews:NBK1466", "pmid:35245110", "pmid:39703464", "pmid:35483324", "pmid:11486088", "mondo:0011266"],
- "additional_literature": ["pmid:42003432", "pmid:41610137", "pmid:41074692", "pmid:40113266", "pmid:39894140", "pmid:39240646", "pmid:39119544", "pmid:38922834", "pmid:37950892", "pmid:37461657", "pmid:37146135", "pmid:36778282", "pmid:36018009", "pmid:35945246", "pmid:35567413", "pmid:34101465", "pmid:34024776", "pmid:33595997", "pmid:31981476", "pmid:31927948", "pmid:30984523", "pmid:30140252", "pmid:30100878", "pmid:29973908", "pmid:29291944", "pmid:28623239", "pmid:28491317", "pmid:28130447", "pmid:27727437", "pmid:27222292", "pmid:26586700", "pmid:25443993", "pmid:25186227", "pmid:24907641", "pmid:23570879", "pmid:22723857", "pmid:22643181", "pmid:22587749", "pmid:22459146", "pmid:22332444", "pmid:22062891", "pmid:21303839", "pmid:21224892", "pmid:21204798", "pmid:20971734", "pmid:20491895", "pmid:20174632", "pmid:19683984", "pmid:19632331", "pmid:19218442", "pmid:18804219", "pmid:18213375", "pmid:16927100", "pmid:16624843", "pmid:16376058", "pmid:15718211", "pmid:15704146", "pmid:15322428", "pmid:15231584", "pmid:15215218", "pmid:15114529", "pmid:15019706", "pmid:14505273", "pmid:12970845", "pmid:12601109"]
+ "references": ["pmid:29086017", "pmid:31159885", "pmid:22140091", "pmid:38467784", "pmid:42003432", "pmid:39643839", "genereviews:NBK1466", "pmid:35245110", "pmid:39703464", "pmid:35483324", "pmid:11486088", "mondo:0011266"],
+ "additional_literature": ["pmid:42094143", "pmid:41937177", "pmid:41610137", "pmid:41074692", "pmid:40113266", "pmid:39894140", "pmid:39240646", "pmid:39119544", "pmid:38922834", "pmid:37950892", "pmid:37461657", "pmid:37146135", "pmid:36778282", "pmid:36018009", "pmid:35945246", "pmid:35567413", "pmid:34101465", "pmid:34024776", "pmid:33595997", "pmid:31981476", "pmid:31927948", "pmid:30984523", "pmid:30140252", "pmid:30100878", "pmid:29973908", "pmid:29291944", "pmid:28623239", "pmid:28491317", "pmid:28130447", "pmid:27727437", "pmid:27222292", "pmid:26586700", "pmid:25443993", "pmid:25186227", "pmid:24907641", "pmid:23570879", "pmid:22723857", "pmid:22643181", "pmid:22587749", "pmid:22459146", "pmid:22332444", "pmid:22062891", "pmid:21303839", "pmid:21224892", "pmid:21204798", "pmid:20971734", "pmid:20491895", "pmid:20174632", "pmid:19683984", "pmid:19632331", "pmid:19218442", "pmid:18804219", "pmid:18213375", "pmid:16927100", "pmid:16624843", "pmid:16376058", "pmid:15718211", "pmid:15704146", "pmid:15322428", "pmid:15231584", "pmid:15215218", "pmid:15114529", "pmid:15019706", "pmid:14505273", "pmid:12970845", "pmid:12601109"]
},
{
"id": "EDM1-PSACH_COMP",
@@ -1427,7 +1427,7 @@
"webstr_hg19": [],
"locus_tags": [],
"disease_tags": ["epilepsy"],
- "references": [],
+ "references": ["pmid:40751262", "pmid:39107278", "pmid: 39107278"],
"additional_literature": []
},
{
@@ -1494,7 +1494,7 @@
"locus_tags": ["length_affects_onset", "length_affects_severity"],
"disease_tags": ["ataxia"],
"references": ["genereviews:NBK1142", "pmid:18325013", "pmid:9126745", "mondo:0009698"],
- "additional_literature": ["pmid:41268177", "pmid:41074692", "pmid:40442775", "pmid:40340521", "pmid:39156922", "pmid:38135787", "pmid:36398398", "pmid:36359887", "pmid:34474241", "pmid:32920378", "pmid:32875576", "pmid:29352102", "pmid:25752200", "pmid:23883076", "pmid:22581592", "pmid:21757863", "pmid:21075014", "pmid:18358403", "pmid:17003839", "pmid:16379547", "pmid:15483648", "pmid:14517952", "pmid:14510831", "pmid:12215838", "pmid:11790146", "pmid:11697734", "pmid:11571333", "pmid:11524486", "pmid:11240124", "pmid:10927802", "pmid:10721698", "pmid:10660338", "pmid:10515170", "pmid:10441345", "pmid:9529356", "pmid:9090386", "pmid:9054946", "pmid:9012407", "pmid:7885531"]
+ "additional_literature": ["pmid:42094143", "pmid:41268177", "pmid:41074692", "pmid:40442775", "pmid:40340521", "pmid:39156922", "pmid:38135787", "pmid:36398398", "pmid:36359887", "pmid:34474241", "pmid:32920378", "pmid:32875576", "pmid:29352102", "pmid:25752200", "pmid:23883076", "pmid:22581592", "pmid:21757863", "pmid:21075014", "pmid:18358403", "pmid:17003839", "pmid:16379547", "pmid:15483648", "pmid:14517952", "pmid:14510831", "pmid:12215838", "pmid:11790146", "pmid:11697734", "pmid:11571333", "pmid:11524486", "pmid:11240124", "pmid:10927802", "pmid:10721698", "pmid:10660338", "pmid:10515170", "pmid:10441345", "pmid:9529356", "pmid:9090386", "pmid:9054946", "pmid:9012407", "pmid:7885531"]
},
{
"id": "SCA37_DAB1",
@@ -1635,8 +1635,8 @@
"webstr_hg19": ["Expansion_FRA12A_MR/DIP2B"],
"locus_tags": [],
"disease_tags": [],
- "references": ["pmid:3742859", "pmid:4042396", "omim:136630", "pmid:37248219", "pmid:17236128", "pmid:39854091"],
- "additional_literature": ["pmid:38418263", "pmid:37090938", "pmid:34622207"]
+ "references": ["pmid:3742859", "pmid:4042396", "omim:136630", "pmid:37248219", "pmid:17236128", "pmid:39854091", "pmid:34622207", "pmid:38418263"],
+ "additional_literature": ["pmid:42205056", "pmid:37090938"]
},
{
"id": "DMD_DMD",
@@ -1712,7 +1712,7 @@
"locus_tags": [],
"disease_tags": [],
"references": ["pmid:27417533", "pmid:16969582", "genereviews:NBK1119", "pmid:35168641", "mondo:0010679"],
- "additional_literature": ["pmid:41691287", "pmid:41244984", "pmid:41173008", "pmid:39874107", "pmid:39803454", "pmid:39713478", "pmid:39251998", "pmid:38290145", "pmid:37829280", "pmid:37270548", "pmid:37090938", "pmid:36975100", "pmid:36048237", "pmid:35615378", "pmid:35093299", "pmid:34371182", "pmid:34238289", "pmid:33349121", "pmid:30914715", "pmid:30349485", "pmid:29687370", "pmid:27924830", "pmid:27178005", "pmid:27529242", "pmid:27276190", "pmid:24411039", "pmid:25804023", "pmid:24191945", "pmid:23894429", "pmid:23695957", "pmid:23659897", "pmid:23574351", "pmid:23538453", "pmid:21901138", "pmid:21305566", "pmid:22830166", "pmid:19927354", "pmid:19907931", "pmid:19309270", "pmid:19158820", "pmid:19108751", "pmid:18393226", "pmid:18359022", "pmid:17439955", "pmid:16553208", "pmid:16415967", "pmid:12132577", "pmid:11807410", "pmid:11593558", "pmid:11280167", "pmid:11185740", "pmid:10445321", "pmid:9894797", "pmid:8588583", "pmid:7633442", "pmid:7705851"]
+ "additional_literature": ["pmid:41906116", "pmid:41691287", "pmid:41244984", "pmid:41173008", "pmid:39874107", "pmid:39803454", "pmid:39713478", "pmid:39251998", "pmid:38290145", "pmid:37829280", "pmid:37270548", "pmid:37090938", "pmid:36975100", "pmid:36048237", "pmid:35615378", "pmid:35093299", "pmid:34371182", "pmid:34238289", "pmid:33349121", "pmid:30914715", "pmid:30349485", "pmid:29687370", "pmid:27924830", "pmid:27178005", "pmid:27529242", "pmid:27276190", "pmid:24411039", "pmid:25804023", "pmid:24191945", "pmid:23894429", "pmid:23695957", "pmid:23659897", "pmid:23574351", "pmid:23538453", "pmid:21901138", "pmid:21305566", "pmid:22830166", "pmid:19927354", "pmid:19907931", "pmid:19309270", "pmid:19158820", "pmid:19108751", "pmid:18393226", "pmid:18359022", "pmid:17439955", "pmid:16553208", "pmid:16415967", "pmid:12132577", "pmid:11807410", "pmid:11593558", "pmid:11280167", "pmid:11185740", "pmid:10445321", "pmid:9894797", "pmid:8588583", "pmid:7633442", "pmid:7705851"]
},
{
"id": "DM1_DMPK",
@@ -1777,8 +1777,8 @@
"webstr_hg19": ["Expansion_DM1/DMPK"],
"locus_tags": ["somatic_instability", "anticipation", "maternal_expansion", "length_affects_onset", "length_affects_phenotype", "length_affects_severity", "motif_affects_instability", "motif_affects_onset", "motif_affects_phenotype", "motif_affects_severity"],
"disease_tags": ["myotonic_dystrophy"],
- "references": ["genereviews:NBK1165", "pmid:38454488", "pmid:36169768", "pmid:39932794", "pmid:40259070", "pmid:39643839", "pmid:32851192", "doi:10.1016/j.mcp.2024.102005", "pmid:35741732", "doi:10.1093/hmg/ddae186", "pmid:29100084", "pmid:31159885", "pmid:35483324", "pmid:1310900", "mondo:0008056", "pmid:29361396", "pmid:8810716", "pmid:27695335", "pmid:29871899", "pmid:37209486"],
- "additional_literature": ["pmid:41996006", "pmid:41974889", "pmid:41951733", "pmid:41946260", "pmid:41855125", "pmid:41848171", "pmid:41766784", "pmid:41762523", "pmid:41722569", "pmid:41710065", "pmid:41707138", "pmid:41672630", "pmid:41610137", "pmid:41533635", "pmid:41379996", "pmid:41260620", "pmid:41250834", "pmid:41226829", "pmid:41212113", "pmid:41161721", "pmid:41074692", "pmid:40903903", "pmid:40896579", "pmid:40879030", "pmid:40712995", "pmid:40606545", "pmid:40599975", "pmid:40417743", "pmid:40296143", "pmid:40113266", "pmid:40092662", "pmid:40004498", "pmid:39710066", "pmid:39679849", "pmid:39492694", "pmid:39433769", "pmid:39415708", "pmid:39391712", "pmid:39383229", "pmid:39278936", "pmid:39267217", "pmid:39273681", "pmid:39232665", "pmid:39180495", "pmid:39126705", "pmid:38709060", "pmid:38704930", "pmid:38490135", "pmid:38314057", "pmid:37829280", "pmid:37744174", "pmid:37645891", "pmid:37638448", "pmid:37521782", "pmid:37397246", "pmid:37373276", "pmid:37352653", 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},
{
"id": "RCPS_EIF4A3",
@@ -1975,8 +1975,8 @@
"webstr_hg19": [],
"locus_tags": ["maternal_expansion", "length_affects_onset", "length_affects_penetrance", "motif_affects_penetrance", "length_affects_phenotype"],
"disease_tags": ["spinocerebellar_ataxia"],
- "references": ["genereviews:NBK599589", "pmid:39263992", "pmid:36516086", "pmid:37399286", "pmid:39227614", "pmid:40007153", "pmid:40379261", "pmid:38937606", "pmid:39604554", "pmid:41327893", "pmid:41277530", "pmid:38876750", "pmid:38886208", "pmid:37267898", "pmid:36493768", "pmid:39349043", "doi:10.1212/NXG.0000000000200253"],
- "additional_literature": ["pmid:42055934", "pmid:42044943", "pmid:41698164", "pmid:41504274", "pmid:41118032", "pmid:41065930", "pmid:41055766", "pmid:40974444", "pmid:40906330", "pmid:40898875", "pmid:40894141", "pmid:40879304", "pmid:40835733", "pmid:40679574", "pmid:40637932", "pmid:40623333", "pmid:40579842", "pmid:40556471", "pmid:40488180", "pmid:40273470", "pmid:40239008", "pmid:40191983", "pmid:40141365", "pmid:40024931", "pmid:40017559", "pmid:39996128", "pmid:39821862", "pmid:39801711", "pmid:39723156", "pmid:39666057", "pmid:39666053", "pmid:39574782", "pmid:39571249", "pmid:39392764", "pmid:39378335", "pmid:39152783", "pmid:39006414", "pmid:38976084", "pmid:38949032", "pmid:38866925", "pmid:38816190", "pmid:38513302", "pmid:38487929", "pmid:38472396", "pmid:38405699", "pmid:38381176", "pmid:38221848", "pmid:38170134", "pmid:38150853", "pmid:38058854", "pmid:37916889", "pmid:37646005", "pmid:37578187", "pmid:37577458", "pmid:37322040", "pmid:37165652", "pmid:32717741", "pmid:30017992", "pmid:28444220", "pmid:26677414", "pmid:26149656", "pmid:15470364", "pmid:15148151"]
+ "references": ["genereviews:NBK599589", "pmid:39263992", "pmid:36516086", "pmid:37399286", "pmid:39227614", "pmid:40007153", "pmid:40379261", "pmid:38937606", "pmid:39604554", "pmid:41327893", "pmid:41277530", "pmid:38876750", "pmid:38886208", "pmid:37267898", "pmid:36493768", "pmid:39349043", "pmid:42044943", "doi:10.1212/NXG.0000000000200253"],
+ "additional_literature": ["pmid:42204984", "pmid:42178418", "pmid:42168446", "pmid:42096001", "pmid:42090775", "pmid:42055934", "pmid:41698164", "pmid:41504274", "pmid:41118032", "pmid:41065930", "pmid:41055766", "pmid:40974444", "pmid:40906330", "pmid:40898875", "pmid:40894141", "pmid:40879304", "pmid:40835733", "pmid:40679574", "pmid:40637932", "pmid:40623333", "pmid:40579842", "pmid:40556471", "pmid:40488180", "pmid:40273470", "pmid:40239008", "pmid:40191983", "pmid:40141365", "pmid:40024931", "pmid:40017559", "pmid:39996128", "pmid:39821862", "pmid:39801711", "pmid:39723156", "pmid:39666057", "pmid:39666053", "pmid:39574782", "pmid:39571249", "pmid:39392764", "pmid:39378335", "pmid:39152783", "pmid:39006414", "pmid:38976084", "pmid:38949032", "pmid:38866925", "pmid:38816190", "pmid:38513302", "pmid:38487929", "pmid:38472396", "pmid:38405699", "pmid:38381176", "pmid:38221848", "pmid:38170134", "pmid:38150853", "pmid:38058854", "pmid:37916889", "pmid:37646005", "pmid:37578187", "pmid:37577458", "pmid:37322040", "pmid:37165652", "pmid:32717741", "pmid:30017992", "pmid:28444220", "pmid:26677414", "pmid:26149656", "pmid:15470364", "pmid:15148151"]
},
{
"id": "FXS_FMR1",
@@ -2041,8 +2041,8 @@
"webstr_hg19": ["Expansion_FXS/FMR1"],
"locus_tags": ["somatic_instability", "anticipation", "maternal_expansion", "length_affects_onset", "length_affects_penetrance", "length_affects_phenotype", "length_affects_severity", "motif_affects_instability"],
"disease_tags": ["phenotypic_spectrum", "ataxia"],
- "references": ["genereviews:NBK1384", "url:https://www.uptodate.com/contents/fragile-x-syndrome-clinical-features-and-diagnosis-in-children-and-adolescents", "pmid:17427188", "isbn:978-3-031-66932-3", "pmid:16205714", "pmid:36169768", "pmid:41507195", "pmid:32463542", "pmid:29868108", "pmid:41555826", "pmid:7987398", "pmid:24700618", "pmid:29100084", "pmid:39320553", "pmid:1605194", "pmid:1710175", "mondo:0010383", "mondo:0010706", "mondo:0010382"],
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+ "references": ["genereviews:NBK1384", "url:https://www.uptodate.com/contents/fragile-x-syndrome-clinical-features-and-diagnosis-in-children-and-adolescents", "pmid:17427188", "isbn:978-3-031-66932-3", "pmid:16205714", "pmid:36169768", "pmid:41507195", "pmid:32463542", "pmid:29868108", "pmid:41555826", "pmid:7987398", "pmid:42001465", "pmid:24700618", "pmid:29100084", "pmid:39320553", "pmid:1605194", "pmid:1710175", "mondo:0010383", "mondo:0010706", "mondo:0010382"],
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"pmid:9806479", "pmid:9792200", "pmid:9761677", "pmid:9738717", "pmid:9653650", "pmid:9624140", "pmid:9630071", "pmid:9604772", "pmid:9603608", "pmid:9529778", "pmid:9485421", "pmid:9514250", "pmid:9507388", "pmid:9415473", "pmid:9437788", "pmid:9399905", "pmid:9358013", "pmid:9341861", "pmid:9382110", "pmid:9299309", "pmid:9279752", "pmid:9254854", "pmid:9207038", "pmid:9201980", "pmid:9195158", "pmid:9640603", "pmid:9131013", "pmid:8798682", "pmid:8808600", "pmid:8792815", "pmid:8792813", "pmid:8844091", "pmid:8844089", "pmid:8844077", "pmid:8844068", "pmid:8844065", "pmid:8844064", "pmid:8755928", "pmid:8698331", "pmid:8826482", "pmid:8826479", "pmid:8725793", "pmid:8636996", "pmid:8673086", "pmid:8664297", "pmid:8644711", "pmid:8626781", "pmid:8872026", "pmid:8800930", "pmid:8519769", "pmid:8634688", "pmid:7499428", "pmid:8589687", "pmid:7581460", "pmid:8593539", "pmid:8579216", "pmid:8559749", "pmid:7541938", "pmid:7761473", "pmid:7758107", "pmid:7732383", "pmid:7783163", "pmid:8750357", "pmid:7825564", "pmid:7717734", "pmid:7881407", "pmid:7864047", "pmid:7927336", "pmid:7849707", "pmid:8023854", "pmid:8197163", "pmid:8162055", "pmid:8275089", "pmid:8244331", "pmid:8237919", "pmid:7902319", "pmid:7692601", "pmid:8242066", "pmid:8334699", "pmid:1642231", "pmid:1605199"]
},
{
"id": "BPES_FOXL2",
@@ -2184,7 +2184,7 @@
"locus_tags": ["somatic_instability", "maternal_expansion", "length_affects_onset", "length_affects_phenotype", "motif_affects_instability", "motif_affects_onset", "motif_affects_penetrance"],
"disease_tags": ["ataxia"],
"references": ["genereviews:NBK1281", "pmid:16205714", "pmid:36169768", "pmid:11748752", "pmid:8815938", "omim:229300", "pmid:29100084", "pmid:8596916"],
- "additional_literature": ["pmid:42018061", "pmid:41954755", "pmid:41919005", "pmid:41890103", "pmid:41640354", "pmid:41432640", "pmid:41426430", "pmid:41318543", "pmid:41301739", "pmid:41278766", "pmid:41176519", "pmid:41137390", "pmid:41074692", "pmid:41014100", "pmid:40994821", "pmid:40970480", "pmid:40898875", "pmid:40880907", "pmid:40507780", "pmid:40488180", "pmid:40419681", "pmid:40404357", "pmid:40296143", "pmid:40141365", "pmid:39812846", "pmid:39810753", "pmid:39574782", "pmid:39571249", "pmid:39519164", "pmid:39496895", "pmid:39324476", "pmid:39235665", "pmid:39219417", "pmid:39062522", "pmid:38936158", "pmid:38495102", "pmid:38484450", "pmid:38396238", "pmid:38367363", "pmid:38352270", "pmid:38141359", "pmid:38063871", "pmid:38014032", "pmid:37891254", "pmid:37585105", "pmid:37006329", "pmid:36928898", "pmid:36800320", "pmid:36780807", "pmid:36777637", "pmid:36638893", "pmid:36635061", "pmid:36618024", "pmid:36511872", "pmid:36369844", "pmid:36133907", "pmid:36036008", "pmid:35850241", "pmid:35708503", "pmid:35595154", "pmid:35301072", "pmid:35182509", "pmid:34920960", "pmid:34849883", "pmid:34786480", "pmid:34747814", "pmid:34687355", "pmid:34643298", "pmid:34600502", "pmid:34408077", "pmid:34372915", "pmid:34299126", "pmid:34214898", "pmid:33820410", "pmid:33629768", "pmid:33624863", "pmid:33599954", "pmid:33592237", "pmid:33529321", "pmid:33354116", "pmid:33151022", "pmid:33028632", "pmid:32746884", "pmid:32744307", "pmid:32717741", "pmid:32608417", "pmid:32586831", "pmid:32582297", "pmid:32481586", "pmid:32385683", "pmid:32291635", "pmid:31911468", "pmid:31904895", "pmid:31877117", "pmid:31673878", "pmid:31650522", "pmid:31446150", "pmid:31279523", "pmid:30874991", "pmid:30828501", "pmid:30761510", "pmid:30635474", "pmid:30596685", "pmid:30590615", "pmid:30552117", "pmid:30519163", "pmid:30464193", "pmid:30425621", "pmid:30358880", "pmid:30237783", "pmid:30159187", "pmid:30097477", "pmid:30076049", "pmid:30065630", "pmid:29666341", "pmid:29529236", "pmid:29261783", "pmid:29125828", "pmid:29070698", "pmid:28904984", "pmid:28812047", "pmid:28716278", "pmid:28451558", "pmid:28282710", "pmid:28109580", "pmid:27518705", "pmid:27668106", "pmid:27648458", "pmid:27644330", "pmid:27522354", "pmid:27425605", "pmid:27386501", "pmid:27228352", "pmid:27206881", "pmid:27142428", "pmid:26906906", "pmid:26896803", "pmid:28392990", "pmid:26704351", "pmid:26414159", "pmid:26401053", "pmid:26393353", "pmid:26379101", "pmid:26339677", "pmid:26338206", "pmid:26301374", "pmid:26149656", "pmid:26099177", "pmid:25845763", "pmid:25831023", "pmid:25814655", "pmid:25758173", "pmid:25685137", "pmid:25681319", "pmid:25616511", "pmid:25207996", "pmid:25198290", "pmid:25112975", "pmid:25022367", "pmid:24971578", "pmid:24962209", "pmid:24858524", "pmid:24819921", "pmid:24816001", "pmid:24787137", "pmid:24714088", "pmid:24691413", "pmid:24667739", "pmid:24665325", "pmid:24613765", "pmid:24586819", "pmid:24455203", "pmid:24371004", "pmid:24327207", "pmid:24209901", "pmid:24023969", "pmid:23996585", "pmid:23943791", "pmid:23925595", "pmid:23922695", "pmid:23879205", "pmid:23838345", "pmid:23775342", "pmid:23691127", "pmid:23640016", "pmid:23625326", "pmid:23474817", "pmid:23418481", "pmid:23382970", "pmid:23280845", "pmid:25499576", "pmid:23269675", "pmid:23242090", "pmid:23071719", "pmid:22798143", "pmid:22787155", "pmid:22764244", "pmid:22752483", "pmid:22691228", "pmid:22447512", "pmid:22414340", "pmid:22409940", "pmid:22289650", "pmid:22262734", "pmid:21830088", "pmid:21776984", "pmid:21745819", "pmid:21652007", "pmid:21486239", "pmid:21397024", "pmid:21181307", "pmid:21127046", "pmid:21051337", "pmid:21040903", "pmid:20675166", "pmid:20559546", "pmid:20506029", "pmid:20373285", "pmid:20098685", "pmid:20090835", "pmid:19956589", "pmid:19876374", "pmid:19733517", "pmid:19485941", "pmid:19370769", "pmid:19259763", "pmid:19043662", "pmid:18820300", "pmid:18697824", "pmid:18597733", "pmid:18045775", "pmid:17703324", "pmid:17498922", "pmid:28182935", "pmid:17262846", "pmid:17235301", "pmid:17024371", "pmid:16989817", "pmid:16919418", "pmid:16857735", "pmid:16764889", "pmid:16644517", "pmid:16120311", "pmid:15376485", "pmid:15340363", "pmid:15233994", "pmid:15201464", "pmid:15180699", "pmid:14978261", "pmid:14962663", "pmid:12516053", "pmid:12112211", "pmid:11939898", "pmid:11843702", "pmid:11809170", "pmid:11428460", "pmid:11340071", "pmid:11325966", "pmid:11240567", "pmid:11071107", "pmid:11054139", "pmid:10982543", "pmid:10982187", "pmid:10969848", "pmid:10896266", "pmid:10732799", "pmid:10681084", "pmid:10556290", "pmid:10230399", "pmid:10102712", "pmid:10077729", "pmid:9811933", "pmid:9779809", "pmid:9737785", "pmid:9667602", "pmid:9577387", "pmid:9443873", "pmid:9486868", "pmid:9448568", "pmid:9416816", "pmid:9409356", "pmid:9326946", "pmid:9339708", "pmid:9339680", "pmid:9270667", "pmid:9270608", "pmid:9241271", "pmid:9177790", "pmid:9153531", "pmid:9153129", "pmid:10464657", "pmid:9331900", "pmid:8751856"]
+ "additional_literature": ["pmid:42134333", "pmid:42094143", "pmid:42018061", "pmid:41954755", "pmid:41919005", "pmid:41890103", "pmid:41640354", "pmid:41432640", "pmid:41426430", "pmid:41318543", "pmid:41301739", "pmid:41278766", "pmid:41176519", "pmid:41137390", "pmid:41074692", "pmid:41014100", "pmid:40994821", "pmid:40970480", "pmid:40898875", "pmid:40880907", "pmid:40507780", "pmid:40488180", "pmid:40419681", "pmid:40404357", "pmid:40296143", "pmid:40141365", "pmid:39812846", "pmid:39810753", "pmid:39574782", "pmid:39571249", "pmid:39519164", "pmid:39496895", "pmid:39324476", "pmid:39235665", "pmid:39219417", "pmid:39062522", "pmid:38936158", "pmid:38495102", "pmid:38484450", "pmid:38396238", "pmid:38367363", "pmid:38352270", "pmid:38141359", "pmid:38063871", "pmid:38014032", "pmid:37891254", "pmid:37585105", "pmid:37006329", "pmid:36928898", "pmid:36800320", "pmid:36780807", "pmid:36777637", "pmid:36638893", "pmid:36635061", "pmid:36618024", "pmid:36511872", "pmid:36369844", "pmid:36133907", "pmid:36036008", "pmid:35850241", "pmid:35708503", "pmid:35595154", "pmid:35301072", "pmid:35182509", "pmid:34920960", "pmid:34849883", "pmid:34786480", "pmid:34747814", "pmid:34687355", "pmid:34643298", "pmid:34600502", "pmid:34408077", "pmid:34372915", "pmid:34299126", "pmid:34214898", "pmid:33820410", "pmid:33629768", "pmid:33624863", "pmid:33599954", "pmid:33592237", "pmid:33529321", "pmid:33354116", "pmid:33151022", "pmid:33028632", "pmid:32746884", "pmid:32744307", "pmid:32717741", "pmid:32608417", "pmid:32586831", "pmid:32582297", "pmid:32481586", "pmid:32385683", "pmid:32291635", "pmid:31911468", "pmid:31904895", "pmid:31877117", "pmid:31673878", "pmid:31650522", "pmid:31446150", "pmid:31279523", "pmid:30874991", "pmid:30828501", "pmid:30761510", "pmid:30635474", "pmid:30596685", "pmid:30590615", "pmid:30552117", "pmid:30519163", "pmid:30464193", "pmid:30425621", "pmid:30358880", "pmid:30237783", "pmid:30159187", "pmid:30097477", "pmid:30076049", "pmid:30065630", "pmid:29666341", "pmid:29529236", "pmid:29261783", "pmid:29125828", "pmid:29070698", "pmid:28904984", "pmid:28812047", "pmid:28716278", "pmid:28451558", "pmid:28282710", "pmid:28109580", "pmid:27518705", "pmid:27668106", "pmid:27648458", "pmid:27644330", "pmid:27522354", "pmid:27425605", "pmid:27386501", "pmid:27228352", "pmid:27206881", "pmid:27142428", "pmid:26906906", "pmid:26896803", "pmid:28392990", "pmid:26704351", "pmid:26414159", "pmid:26401053", "pmid:26393353", "pmid:26379101", "pmid:26339677", "pmid:26338206", "pmid:26301374", "pmid:26149656", "pmid:26099177", "pmid:25845763", "pmid:25831023", "pmid:25814655", "pmid:25758173", "pmid:25685137", "pmid:25681319", "pmid:25616511", "pmid:25207996", "pmid:25198290", "pmid:25112975", "pmid:25022367", "pmid:24971578", "pmid:24962209", "pmid:24858524", "pmid:24819921", "pmid:24816001", "pmid:24787137", "pmid:24714088", "pmid:24691413", "pmid:24667739", "pmid:24665325", "pmid:24613765", "pmid:24586819", "pmid:24455203", "pmid:24371004", "pmid:24327207", "pmid:24209901", "pmid:24023969", "pmid:23996585", "pmid:23943791", "pmid:23925595", "pmid:23922695", "pmid:23879205", "pmid:23838345", "pmid:23775342", "pmid:23691127", "pmid:23640016", "pmid:23625326", "pmid:23474817", "pmid:23418481", "pmid:23382970", "pmid:23280845", "pmid:25499576", "pmid:23269675", "pmid:23242090", "pmid:23071719", "pmid:22798143", "pmid:22787155", "pmid:22764244", "pmid:22752483", "pmid:22691228", "pmid:22447512", "pmid:22414340", "pmid:22409940", "pmid:22289650", "pmid:22262734", "pmid:21830088", "pmid:21776984", "pmid:21745819", "pmid:21652007", "pmid:21486239", "pmid:21397024", "pmid:21181307", "pmid:21127046", "pmid:21051337", "pmid:21040903", "pmid:20675166", "pmid:20559546", "pmid:20506029", "pmid:20373285", "pmid:20098685", "pmid:20090835", "pmid:19956589", "pmid:19876374", "pmid:19733517", "pmid:19485941", "pmid:19370769", "pmid:19259763", "pmid:19043662", "pmid:18820300", "pmid:18697824", "pmid:18597733", "pmid:18045775", "pmid:17703324", "pmid:17498922", "pmid:28182935", "pmid:17262846", "pmid:17235301", "pmid:17024371", "pmid:16989817", "pmid:16919418", "pmid:16857735", "pmid:16764889", "pmid:16644517", "pmid:16120311", "pmid:15376485", "pmid:15340363", "pmid:15233994", "pmid:15201464", "pmid:15180699", "pmid:14978261", "pmid:14962663", "pmid:12516053", "pmid:12112211", "pmid:11939898", "pmid:11843702", "pmid:11809170", "pmid:11428460", "pmid:11340071", "pmid:11325966", "pmid:11240567", "pmid:11071107", "pmid:11054139", "pmid:10982543", "pmid:10982187", "pmid:10969848", "pmid:10896266", "pmid:10732799", "pmid:10681084", "pmid:10556290", "pmid:10230399", "pmid:10102712", "pmid:10077729", "pmid:9811933", "pmid:9779809", "pmid:9737785", "pmid:9667602", "pmid:9577387", "pmid:9443873", "pmid:9486868", "pmid:9448568", "pmid:9416816", "pmid:9409356", "pmid:9326946", "pmid:9339708", "pmid:9339680", "pmid:9270667", "pmid:9270608", "pmid:9241271", "pmid:9177790", "pmid:9153531", "pmid:9153129", "pmid:10464657", "pmid:9331900", "pmid:8751856"]
},
{
"id": "OPDM2_GIPC1",
@@ -2249,8 +2249,8 @@
"webstr_hg19": ["STR_668861"],
"locus_tags": ["length_affects_onset", "length_affects_severity"],
"disease_tags": ["oculopharyngodistal_myopathy", "ataxia"],
- "references": ["pmid:32413282", "pmid:33374016", "pmid:41121761", "gnomad:GIPC1", "genereviews:NBK535148", "pmid:38876750", "pmid:35245110", "pmid:38467784", "pmid:39349043"],
- "additional_literature": ["pmid:42057638", "pmid:41975469", "pmid:41888971", "pmid:41792844", "pmid:41555317", "pmid:40645757", "pmid:40084170", "pmid:39936620", "pmid:39492694", "pmid:39418922", "pmid:39013564", "pmid:38871700", "pmid:37923380", "pmid:37550168", "pmid:36108428", "pmid:36055118", "pmid:35700120", "pmid:35521937", "pmid:35314910", "pmid:35152460", "pmid:35148830", "pmid:34927285", "pmid:33693509", "pmid:33239111", "pmid:22521844"]
+ "references": ["pmid:32413282", "pmid:41975469", "pmid:33374016", "pmid:41121761", "gnomad:GIPC1", "genereviews:NBK535148", "pmid:38876750", "pmid:35245110", "pmid:38467784", "pmid:39349043"],
+ "additional_literature": ["pmid:42057638", "pmid:41888971", "pmid:41792844", "pmid:41555317", "pmid:40645757", "pmid:40084170", "pmid:39936620", "pmid:39492694", "pmid:39418922", "pmid:39013564", "pmid:38871700", "pmid:37923380", "pmid:37550168", "pmid:36108428", "pmid:36055118", "pmid:35700120", "pmid:35521937", "pmid:35314910", "pmid:35152460", "pmid:35148830", "pmid:34927285", "pmid:33693509", "pmid:33239111", "pmid:22521844"]
},
{
"id": "GDPAG_GLS",
@@ -2731,8 +2731,8 @@
"webstr_hg19": ["Expansion_HD/HTT"],
"locus_tags": ["somatic_instability", "anticipation", "paternal_expansion", "length_affects_onset", "length_affects_penetrance", "length_affects_phenotype", "length_affects_severity", "motif_affects_instability", "motif_affects_onset", "motif_affects_penetrance", "proposed_modifier"],
"disease_tags": [],
- "references": ["genereviews:NBK1305", "pmid:39441074", "pmid:21171977", "pmid:27940602", "pmid:39572770", "pmid:35245110", "pmid:39673793", "pmid:19507258", "pmid:29100084", "pmid:8458085", "mondo:0007739"],
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},
{
"id": "HDL2_JPH3",
@@ -3072,7 +3072,7 @@
"locus_tags": [],
"disease_tags": [],
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- "additional_literature": ["pmid:41961547", "pmid:41832605", "pmid:41345522", "pmid:40244446", "pmid:39848530", "pmid:39576755", "pmid:39325540", "pmid:39314239", "pmid:38605207", "pmid:37547453", "pmid:37456840", "pmid:37316299", "pmid:35982790", "pmid:35497811", "pmid:34641504", "pmid:34452200", "pmid:33672244", "pmid:33001366", "pmid:32451462", "pmid:32293552", "pmid:31213370", "pmid:30593830", "pmid:29520014", "pmid:29328069", "pmid:29217307", "pmid:29156055", "pmid:29052568", "pmid:28581490", "pmid:28407289", "pmid:27957769", "pmid:27036738", "pmid:27367740", "pmid:27340743", "pmid:27157321", "pmid:26943180", "pmid:26838233", "pmid:26693201", "pmid:26692014", "pmid:26498650", "pmid:25753030", "pmid:24718884", "pmid:24509297", "pmid:24416403", "pmid:24246952", "pmid:24233342", "pmid:23778023", "pmid:23770070", "pmid:23652307", "pmid:23317217", "pmid:23259747", "pmid:22970023", "pmid:21998660", "pmid:21385452", "pmid:20876819", "pmid:20562098", "pmid:20470225", "pmid:21637607", "pmid:19811637", "pmid:19625949", "pmid:19534821", "pmid:18619437", "pmid:18094420", "pmid:18021186", "pmid:17974963", "pmid:17694298", "pmid:17581677", "pmid:17203187", "pmid:17050588", "pmid:16711252", "pmid:16631167", "pmid:16302687", "pmid:16101182", "pmid:15991935", "pmid:15944787", "pmid:15814824", "pmid:15729696", "pmid:15604091", "pmid:15387710", "pmid:15115750", "pmid:15041735", "pmid:14871854", "pmid:14707484", "pmid:12747745", "pmid:12646731", "pmid:12626424", "pmid:12090474", "pmid:11923240", "pmid:11445551", "pmid:11391628", "pmid:11358826", "pmid:11295060", "pmid:11169964", "pmid:10797294", "pmid:10741704", "pmid:10653872", "pmid:10652432", "pmid:10541345", "pmid:10430099", "pmid:10389761", "pmid:10383817", "pmid:10235488", "pmid:10206297", "pmid:10052816", "pmid:10024673", "pmid:10022471", "pmid:9935162", "pmid:9823312", "pmid:9755875", "pmid:9727561", "pmid:9690452", "pmid:9591045", "pmid:9579805", "pmid:9575675", "pmid:9551361", "pmid:9427605", "pmid:9419405", "pmid:8967520", "pmid:8643693", "pmid:7594478", "pmid:8579785", "pmid:8567787", "pmid:8519447", "pmid:7628867", "pmid:7816840", "pmid:7946402", "pmid:7514493", "pmid:7690213", "pmid:7685318"]
+ "additional_literature": ["pmid:42175825", "pmid:41961547", "pmid:41832605", "pmid:41345522", "pmid:40244446", "pmid:39848530", "pmid:39576755", "pmid:39325540", "pmid:39314239", "pmid:38605207", "pmid:37547453", "pmid:37456840", "pmid:37316299", "pmid:35982790", "pmid:35497811", "pmid:34641504", "pmid:34452200", "pmid:33672244", "pmid:33001366", "pmid:32451462", "pmid:32293552", "pmid:31213370", "pmid:30593830", "pmid:29520014", "pmid:29328069", "pmid:29217307", "pmid:29156055", "pmid:29052568", "pmid:28581490", "pmid:28407289", "pmid:27957769", "pmid:27036738", "pmid:27367740", "pmid:27340743", "pmid:27157321", "pmid:26943180", "pmid:26838233", "pmid:26693201", "pmid:26692014", "pmid:26498650", "pmid:25753030", "pmid:24718884", "pmid:24509297", "pmid:24416403", "pmid:24246952", "pmid:24233342", "pmid:23778023", "pmid:23770070", "pmid:23652307", "pmid:23317217", "pmid:23259747", "pmid:22970023", "pmid:21998660", "pmid:21385452", "pmid:20876819", "pmid:20562098", "pmid:20470225", "pmid:21637607", "pmid:19811637", "pmid:19625949", "pmid:19534821", "pmid:18619437", "pmid:18094420", "pmid:18021186", "pmid:17974963", "pmid:17694298", "pmid:17581677", "pmid:17203187", "pmid:17050588", "pmid:16711252", "pmid:16631167", "pmid:16302687", "pmid:16101182", "pmid:15991935", "pmid:15944787", "pmid:15814824", "pmid:15729696", "pmid:15604091", "pmid:15387710", "pmid:15115750", "pmid:15041735", "pmid:14871854", "pmid:14707484", "pmid:12747745", "pmid:12646731", "pmid:12626424", "pmid:12090474", "pmid:11923240", "pmid:11445551", "pmid:11391628", "pmid:11358826", "pmid:11295060", "pmid:11169964", "pmid:10797294", "pmid:10741704", "pmid:10653872", "pmid:10652432", "pmid:10541345", "pmid:10430099", "pmid:10389761", "pmid:10383817", "pmid:10235488", "pmid:10206297", "pmid:10052816", "pmid:10024673", "pmid:10022471", "pmid:9935162", "pmid:9823312", "pmid:9755875", "pmid:9727561", "pmid:9690452", "pmid:9591045", "pmid:9579805", "pmid:9575675", "pmid:9551361", "pmid:9427605", "pmid:9419405", "pmid:8967520", "pmid:8643693", "pmid:7594478", "pmid:8579785", "pmid:8567787", "pmid:8519447", "pmid:7628867", "pmid:7816840", "pmid:7946402", "pmid:7514493", "pmid:7690213", "pmid:7685318"]
},
{
"id": "NME_NAXE",
@@ -3345,8 +3345,8 @@
"webstr_hg19": [],
"locus_tags": ["somatic_instability", "paternal_expansion", "length_affects_onset", "length_affects_phenotype", "motif_affects_onset", "motif_affects_phenotype"],
"disease_tags": ["phenotypic_spectrum"],
- "references": ["omim:603472", "pmid:37090934", "pmid:37305750", "pmid:36169768", "pmid:38467784", "doi:10.1186/s12964-025-02079-1", "pmid:41539185", "genereviews:NBK535148", "pmid:39055960", "pmid:39496005", "pmid:31178126", "pmid:38377026", "pmid:34718964", "pmid:35245110", "pmid:37371433", "pmid:38876750", "pmid:31332380", "mondo:0011327"],
- "additional_literature": ["pmid:42058219", "pmid:42033810", "pmid:42021030", "pmid:42015293", "pmid:42005169", "pmid:41964975", "pmid:41942455", "pmid:41929501", "pmid:41888971", "pmid:41882342", "pmid:41862851", "pmid:41792844", "pmid:41762523", "pmid:41756172", "pmid:41731582", "pmid:41688968", "pmid:41634634", "pmid:41556371", "pmid:41526374", "pmid:41235412", "pmid:41154122", "pmid:41074692", "pmid:40934004", "pmid:40879637", "pmid:40765612", "pmid:40708231", "pmid:40645757", "pmid:40635536", "pmid:40609325", "pmid:40517194", "pmid:40515658", "pmid:40514451", "pmid:40267536", "pmid:40084170", "pmid:39936620", "pmid:39920690", "pmid:39609868", "pmid:39529621", "pmid:39505310", "pmid:39492694", "pmid:39418922", "pmid:39167540", "pmid:39078482", "pmid:38779172", "pmid:38667292", "pmid:38579412", "pmid:38477063", "pmid:38288273", "pmid:38145851", "pmid:37975799", "pmid:37923380", "pmid:37864208", "pmid:37823700", "pmid:37644522", "pmid:37365282", "pmid:37271829", "pmid:37237429", "pmid:37184590", "pmid:37131242", "pmid:37001413", "pmid:36948577", "pmid:36942588", "pmid:36825461", "pmid:36823368", "pmid:36809423", "pmid:36715780", "pmid:36672065", "pmid:36621630", "pmid:36588885", "pmid:36570826", "pmid:36545534", "pmid:36483830", "pmid:36458450", "pmid:36417528", "pmid:36263606", "pmid:36216675", "pmid:36207023", "pmid:36191230", "pmid:36172483", "pmid:36150977", "pmid:36086903", "pmid:36061987", "pmid:36041634", "pmid:36033605", "pmid:35974122", "pmid:35866887", "pmid:35857137", "pmid:35838850", "pmid:35788208", "pmid:35772299", "pmid:35700120", "pmid:35419641", "pmid:35411397", "pmid:35402653", "pmid:35366689", "pmid:35314910", "pmid:35297556", "pmid:35180462", "pmid:35152460", "pmid:35148830", "pmid:35147270", "pmid:34927285", "pmid:34797461", "pmid:34774111", "pmid:34750918", "pmid:34694469", "pmid:34675106", "pmid:34641814", "pmid:34392981", "pmid:34306035", "pmid:34243731", "pmid:34054431", "pmid:34017298", "pmid:33943039", "pmid:33887199", "pmid:33871559", "pmid:33871549", "pmid:33766934", "pmid:33693509", "pmid:33679585", "pmid:33626493", "pmid:33625684", "pmid:33388663", "pmid:33377220", "pmid:33377207", "pmid:33239111", "pmid:33201994", "pmid:33201988", "pmid:33146692", "pmid:33146671", "pmid:33026126", "pmid:33016348", "pmid:32989102", "pmid:32931575", "pmid:32852534", "pmid:32827029", "pmid:32817896", "pmid:32777174", "pmid:32768149", "pmid:32602554", "pmid:32535679", "pmid:32516806", "pmid:32495371", "pmid:32449905", "pmid:32268889", "pmid:32250060", "pmid:32081467", "pmid:32039647", "pmid:31886491", "pmid:31819945", "pmid:31433517", "pmid:31413119", "pmid:31332381"]
+ "references": ["omim:603472", "pmid:37090934", "pmid:37305750", "pmid:36169768", "pmid:38467784", "pmid:42058219", "doi:10.1186/s12964-025-02079-1", "pmid:41539185", "pmid:41942455", "genereviews:NBK535148", "pmid:39055960", "pmid:39496005", "pmid:31178126", "pmid:38377026", "pmid:34718964", "pmid:35245110", "pmid:37371433", "pmid:38876750", "pmid:31332380", "mondo:0011327", "pmid:41929501", "pmid:42005169"],
+ "additional_literature": ["pmid:42177789", "pmid:42033810", "pmid:42021030", "pmid:42015293", "pmid:42001002", "pmid:41964975", "pmid:41929501", "pmid:41888971", "pmid:41882342", "pmid:41862851", "pmid:41792844", "pmid:41762523", "pmid:41756172", "pmid:41731582", "pmid:41688968", "pmid:41634634", "pmid:41556371", "pmid:41526374", "pmid:41235412", "pmid:41154122", "pmid:41074692", "pmid:40934004", "pmid:40879637", "pmid:40765612", "pmid:40708231", "pmid:40645757", "pmid:40635536", "pmid:40609325", "pmid:40517194", "pmid:40515658", "pmid:40514451", "pmid:40267536", "pmid:40084170", "pmid:39936620", "pmid:39920690", "pmid:39609868", "pmid:39529621", "pmid:39505310", "pmid:39492694", "pmid:39418922", "pmid:39167540", "pmid:39078482", "pmid:38779172", "pmid:38667292", "pmid:38579412", "pmid:38477063", "pmid:38288273", "pmid:38145851", "pmid:37975799", "pmid:37923380", "pmid:37864208", "pmid:37823700", "pmid:37644522", "pmid:37365282", "pmid:37271829", "pmid:37237429", "pmid:37184590", "pmid:37131242", "pmid:37001413", "pmid:36948577", "pmid:36942588", "pmid:36825461", "pmid:36823368", "pmid:36809423", "pmid:36715780", "pmid:36672065", "pmid:36621630", "pmid:36588885", "pmid:36570826", "pmid:36545534", "pmid:36483830", "pmid:36458450", "pmid:36417528", "pmid:36263606", "pmid:36216675", "pmid:36207023", "pmid:36191230", "pmid:36172483", "pmid:36150977", "pmid:36086903", "pmid:36061987", "pmid:36041634", "pmid:36033605", "pmid:35974122", "pmid:35866887", "pmid:35857137", "pmid:35838850", "pmid:35788208", "pmid:35772299", "pmid:35700120", "pmid:35419641", "pmid:35411397", "pmid:35402653", "pmid:35366689", "pmid:35314910", "pmid:35297556", "pmid:35180462", "pmid:35152460", "pmid:35148830", "pmid:35147270", "pmid:34927285", "pmid:34797461", "pmid:34774111", "pmid:34750918", "pmid:34694469", "pmid:34675106", "pmid:34641814", "pmid:34392981", "pmid:34306035", "pmid:34243731", "pmid:34054431", "pmid:34017298", "pmid:33943039", "pmid:33887199", "pmid:33871559", "pmid:33871549", "pmid:33766934", "pmid:33693509", "pmid:33679585", "pmid:33626493", "pmid:33625684", "pmid:33388663", "pmid:33377220", "pmid:33377207", "pmid:33239111", "pmid:33201994", "pmid:33201988", "pmid:33146692", "pmid:33146671", "pmid:33026126", "pmid:33016348", "pmid:32989102", "pmid:32931575", "pmid:32852534", "pmid:32827029", "pmid:32817896", "pmid:32777174", "pmid:32768149", "pmid:32602554", "pmid:32535679", "pmid:32516806", "pmid:32495371", "pmid:32449905", "pmid:32268889", "pmid:32250060", "pmid:32081467", "pmid:32039647", "pmid:31886491", "pmid:31819945", "pmid:31433517", "pmid:31413119", "pmid:31332381"]
},
{
"id": "OPML1_NUTM2B-AS1",
@@ -3478,7 +3478,7 @@
"locus_tags": ["length_affects_onset", "length_affects_severity"],
"disease_tags": [],
"references": ["pmid:37519616", "pmid:35112761", "genereviews:NBK1126", "pmid:28011929", "pmid:9462747", "pmid:39349043", "pmid:29100084", "omim:164300", "pmid:38876750"],
- "additional_literature": ["pmid:41764774", "pmid:41676387", "pmid:41587185", "pmid:40594369", "pmid:40552959", "pmid:40220918", "pmid:39113268", "pmid:38165364", "pmid:37698929", "pmid:37559347", "pmid:36790141", "pmid:35859342", "pmid:34927285", "pmid:34225694", "pmid:34047774", "pmid:31294444", "pmid:30455479", "pmid:28361972", "pmid:27980005", "pmid:26428746", "pmid:23793615", "pmid:23399899", "pmid:22519734", "pmid:21742497", "pmid:21647273", "pmid:21602480", "pmid:21316245", "pmid:19641605", "pmid:19101703", "pmid:18481858", "pmid:18367172", "pmid:18343218", "pmid:17138075", "pmid:16648376", "pmid:16642034", "pmid:16481821", "pmid:16378590", "pmid:16239242", "pmid:15811916", "pmid:15755680", "pmid:15725589", "pmid:15645184", "pmid:14627730", "pmid:12673802", "pmid:11712939", "pmid:11304042", "pmid:11222452", "pmid:11150975", "pmid:11087766", "pmid:11003790", "pmid:10734263", "pmid:10680791", "pmid:9084936"]
+ "additional_literature": ["pmid:42196324", "pmid:42157275", "pmid:41764774", "pmid:41676387", "pmid:41587185", "pmid:40594369", "pmid:40552959", "pmid:40220918", "pmid:39113268", "pmid:38165364", "pmid:37698929", "pmid:37559347", "pmid:36790141", "pmid:35859342", "pmid:34927285", "pmid:34225694", "pmid:34047774", "pmid:31294444", "pmid:30455479", "pmid:28361972", "pmid:27980005", "pmid:26428746", "pmid:23793615", "pmid:23399899", "pmid:22519734", "pmid:21742497", "pmid:21647273", "pmid:21602480", "pmid:21316245", "pmid:19641605", "pmid:19101703", "pmid:18481858", "pmid:18367172", "pmid:18343218", "pmid:17138075", "pmid:16648376", "pmid:16642034", "pmid:16481821", "pmid:16378590", "pmid:16239242", "pmid:15811916", "pmid:15755680", "pmid:15725589", "pmid:15645184", "pmid:14627730", "pmid:12673802", "pmid:11712939", "pmid:11304042", "pmid:11222452", "pmid:11150975", "pmid:11087766", "pmid:11003790", "pmid:10734263", "pmid:10680791", "pmid:9084936"]
},
{
"id": "CCHS_PHOX2B",
@@ -3757,7 +3757,7 @@
"locus_tags": ["length_affects_penetrance"],
"disease_tags": ["spinocerebellar_ataxia"],
"references": ["omim:604326", "pmid:38467784", "pmid:37906407", "pmid:11198281", "pmid:34711523", "pmid:10581021", "mondo:0011439"],
- "additional_literature": ["pmid:42038259", "pmid:41788301", "pmid:41762523", "pmid:41691974", "pmid:41612618", "pmid:41074692", "pmid:40488180", "pmid:39565297", "pmid:39469072", "pmid:38961870", "pmid:38798069", "pmid:38711441", "pmid:38227102", "pmid:38058854", "pmid:35531119", "pmid:33502644", "pmid:32675418", "pmid:32124191", "pmid:30130680", "pmid:29057148", "pmid:27864267", "pmid:26340331", "pmid:26077168", "pmid:25634432", "pmid:25586539", "pmid:25274186", "pmid:24269018", "pmid:21029765", "pmid:20937954", "pmid:20533062", "pmid:18940801", "pmid:18484086", "pmid:17961920", "pmid:16054804", "pmid:11171892"]
+ "additional_literature": ["pmid:42105155", "pmid:42038259", "pmid:41788301", "pmid:41762523", "pmid:41691974", "pmid:41612618", "pmid:41074692", "pmid:40488180", "pmid:39565297", "pmid:39469072", "pmid:38961870", "pmid:38798069", "pmid:38711441", "pmid:38227102", "pmid:38058854", "pmid:35531119", "pmid:33502644", "pmid:32675418", "pmid:32124191", "pmid:30130680", "pmid:29057148", "pmid:27864267", "pmid:26340331", "pmid:26077168", "pmid:25634432", "pmid:25586539", "pmid:25274186", "pmid:24269018", "pmid:21029765", "pmid:20937954", "pmid:20533062", "pmid:18940801", "pmid:18484086", "pmid:17961920", "pmid:16054804", "pmid:11171892"]
},
{
"id": "HSAN-VIII_PRDM12",
@@ -3898,7 +3898,7 @@
"webstr_hg19": [],
"locus_tags": ["length_affects_phenotype"],
"disease_tags": [],
- "references": ["genereviews:NBK1229", "pmid:37379724", "pmid:38467784", "pmid:36977684", "genereviews:NBK535148", "pmid:29939637", "pmid:1683708", "mondo:0007403"],
+ "references": ["genereviews:NBK1229", "pmid:37379724", "pmid:38467784", "pmid:36977684", "genereviews:NBK535148", "pmid:29939637", "pmid:1683708", "doi:https://doi.org/10.1016/B978-0-444-63945-5.00013-1"],
"additional_literature": ["pmid:41890154", "pmid:41009775", "pmid:40803449", "pmid:39256877", "pmid:35926480", "pmid:35903139", "pmid:35752680", "pmid:35585119", "pmid:33131137", "pmid:31795947", "pmid:31127772", "pmid:30777654", "pmid:30530974", "pmid:29966485", "pmid:28003435", "pmid:27400454", "pmid:25239657", "pmid:23998997", "pmid:21686668", "pmid:19092329", "pmid:18397498", "pmid:18366654", "pmid:17709704", "pmid:16858508", "pmid:14729275", "pmid:12805114", "pmid:12451210", "pmid:11593450", "pmid:10611945", "pmid:9710033", "pmid:9565627", "pmid:8030952"]
},
{
@@ -4126,8 +4126,8 @@
"webstr_hg19": ["STR_1036603"],
"locus_tags": ["motif_affects_penetrance", "length_affects_onset", "length_affects_severity"],
"disease_tags": ["ataxia", "phenotypic_spectrum"],
- "references": ["genereviews:NBK564656", "pmid:38467784", "pmid:32851396", "pmid:38627134", "pmid:37450567", "doi:10.1136/jnnp-2024-ABN.259", "pmid:39833204", "pmid:39811557", "pmid:39230846", "pmid:38876750", "pmid:31230722", "pmid:39349043", "pmid:41177915"],
- "additional_literature": ["pmid:42038259", "pmid:41964406", "pmid:41840142", "pmid:41780084", "pmid:41689662", "pmid:41614301", "pmid:41592538", "pmid:41532091", "pmid:41426430", "pmid:41327893", "pmid:41322202", "pmid:41278766", "pmid:41145152", "pmid:41118032", "pmid:41084404", "pmid:41074692", "pmid:41055766", "pmid:40898875", "pmid:40894141", "pmid:40802152", "pmid:40765612", "pmid:40637932", "pmid:40595562", "pmid:40594369", "pmid:40488180", "pmid:40481300", "pmid:40461673", "pmid:40417743", "pmid:40313272", "pmid:40273470", "pmid:40221271", "pmid:40211677", "pmid:40204545", "pmid:40141365", "pmid:40113266", "pmid:40007153", "pmid:39812846", "pmid:39721397", "pmid:39571249", "pmid:39543176", "pmid:39507594", "pmid:39416949", "pmid:39406499", "pmid:39342186", "pmid:39286915", "pmid:39231235", "pmid:39219417", "pmid:39152783", "pmid:39076534", "pmid:38978724", "pmid:38916676", "pmid:38789445", "pmid:38579416", "pmid:38487929", "pmid:38447794", "pmid:38381906", "pmid:38381176", "pmid:38324175", "pmid:38311638", "pmid:38306376", "pmid:38266156", "pmid:38193360", "pmid:38168171", "pmid:38145611", "pmid:38062616", "pmid:38054570", "pmid:37917284", "pmid:37892228", "pmid:37853169", "pmid:37747091", "pmid:37660923", "pmid:37578187", "pmid:37546920", "pmid:37476326", "pmid:37460231", "pmid:37414537", "pmid:37399286", "pmid:36805468", "pmid:36753892", "pmid:36705320", "pmid:36381255", "pmid:36289003", "pmid:36250766", "pmid:36227727", "pmid:36214978", "pmid:36177974", "pmid:36088850", "pmid:36061987", "pmid:36046423", "pmid:36034314", "pmid:35884855", "pmid:35883251", "pmid:35864213", "pmid:35633373", "pmid:35585435", "pmid:35502508", "pmid:35355059", "pmid:35306791", "pmid:35253317", "pmid:38835435", "pmid:35013364", "pmid:34968871", "pmid:34927205", "pmid:34600502", "pmid:34537679", "pmid:34101140", "pmid:33969391", "pmid:33940977", "pmid:33884451", "pmid:33807868", "pmid:33745133", "pmid:33666721", "pmid:33495376", "pmid:33188504", "pmid:33103729", "pmid:33068477", "pmid:33068476", "pmid:32949124", "pmid:32939785", "pmid:32910249", "pmid:32873692", "pmid:32732387", "pmid:32694621", "pmid:32682126", "pmid:32582864", "pmid:32151945", "pmid:32066831", "pmid:32040566", "pmid:31824583", "pmid:31817852", "pmid:31370354", "pmid:30926972", "pmid:25648260", "pmid:25007187", "pmid:24686188", "pmid:22086855", "pmid:15457444", "pmid:12556494"]
+ "references": ["genereviews:NBK564656", "pmid:38467784", "pmid:32851396", "pmid:38627134", "pmid:37450567", "doi:10.1136/jnnp-2024-ABN.259", "pmid:39833204", "pmid:39811557", "pmid:41964406", "pmid:39230846", "pmid:38876750", "pmid:31230722", "pmid:39349043", "pmid:41177915"],
+ "additional_literature": ["pmid:42178418", "pmid:42096001", "pmid:42094143", "pmid:42038259", "pmid:41840142", "pmid:41780084", "pmid:41689662", "pmid:41614301", "pmid:41592538", "pmid:41532091", "pmid:41426430", "pmid:41327893", "pmid:41322202", "pmid:41278766", "pmid:41145152", "pmid:41118032", "pmid:41084404", "pmid:41074692", "pmid:41055766", "pmid:40898875", "pmid:40894141", "pmid:40802152", "pmid:40765612", "pmid:40637932", "pmid:40595562", "pmid:40594369", "pmid:40488180", "pmid:40481300", "pmid:40461673", "pmid:40417743", "pmid:40313272", "pmid:40273470", "pmid:40221271", "pmid:40211677", "pmid:40204545", "pmid:40141365", "pmid:40113266", "pmid:40007153", "pmid:39812846", "pmid:39721397", "pmid:39571249", "pmid:39543176", "pmid:39507594", "pmid:39416949", "pmid:39406499", "pmid:39342186", "pmid:39286915", "pmid:39231235", "pmid:39219417", "pmid:39152783", "pmid:39076534", "pmid:38978724", "pmid:38916676", "pmid:38789445", "pmid:38579416", "pmid:38487929", "pmid:38447794", "pmid:38381906", "pmid:38381176", "pmid:38324175", "pmid:38311638", "pmid:38306376", "pmid:38266156", "pmid:38193360", "pmid:38168171", "pmid:38145611", "pmid:38062616", "pmid:38054570", "pmid:37917284", "pmid:37892228", "pmid:37853169", "pmid:37747091", "pmid:37660923", "pmid:37578187", "pmid:37546920", "pmid:37476326", "pmid:37460231", "pmid:37414537", "pmid:37399286", "pmid:36805468", "pmid:36753892", "pmid:36705320", "pmid:36381255", "pmid:36289003", "pmid:36250766", "pmid:36227727", "pmid:36214978", "pmid:36177974", "pmid:36088850", "pmid:36061987", "pmid:36046423", "pmid:36034314", "pmid:35884855", "pmid:35883251", "pmid:35864213", "pmid:35633373", "pmid:35585435", "pmid:35502508", "pmid:35355059", "pmid:35306791", "pmid:35253317", "pmid:38835435", "pmid:35013364", "pmid:34968871", "pmid:34927205", "pmid:34600502", "pmid:34537679", "pmid:34101140", "pmid:33969391", "pmid:33940977", "pmid:33884451", "pmid:33807868", "pmid:33745133", "pmid:33666721", "pmid:33495376", "pmid:33188504", "pmid:33103729", "pmid:33068477", "pmid:33068476", "pmid:32949124", "pmid:32939785", "pmid:32910249", "pmid:32873692", "pmid:32732387", "pmid:32694621", "pmid:32682126", "pmid:32582864", "pmid:32151945", "pmid:32066831", "pmid:32040566", "pmid:31824583", "pmid:31817852", "pmid:31370354", "pmid:30926972", "pmid:25648260", "pmid:25007187", "pmid:24686188", "pmid:22086855", "pmid:15457444", "pmid:12556494"]
},
{
"id": "OPDM4_RILPL1",
@@ -4675,7 +4675,7 @@
"locus_tags": ["somatic_instability", "anticipation", "paternal_expansion", "length_affects_onset", "length_affects_penetrance", "length_affects_phenotype", "motif_affects_instability"],
"disease_tags": ["spinocerebellar_ataxia"],
"references": ["omim:607136,@pmid:35053321,@genereviews:NBK1438,@pmid:12805114,@genereviews:NBK1438", "pmid:35245110,@genereviews:NBK1438,@pmid:29100084,@pmid:10484774,@mondo:0011781"],
- "additional_literature": ["pmid:42038259", "pmid:41843312", "pmid:41762523", "pmid:41612618", "pmid:41009775", "pmid:40488180", "pmid:40478462", "pmid:39950762", "pmid:39820777", "pmid:39680235", "pmid:39456985", "pmid:39125760", "pmid:38973070", "pmid:38961870", "pmid:38494459", "pmid:37855597", "pmid:37632648", "pmid:37146135", "pmid:36599645", "pmid:36476347", "pmid:36422518", "pmid:35926480", "pmid:35868859", "pmid:35493319", "pmid:35482253", "pmid:35275350", "pmid:35182509", "pmid:34906452", "pmid:34600502", "pmid:34565721", "pmid:34256333", "pmid:34235484", "pmid:33502644", "pmid:33377399", "pmid:32675418", "pmid:32533168", "pmid:32386547", "pmid:31940111", "pmid:31919387", "pmid:31522753", "pmid:30920184", "pmid:30891880", "pmid:30617627", "pmid:30615214", "pmid:30532692", "pmid:30314815", "pmid:30120431", "pmid:29801887", "pmid:29564144", "pmid:29249939", "pmid:29057148", "pmid:28821675", "pmid:28585930", "pmid:28444220", "pmid:28153533", "pmid:27865706", "pmid:27400454", "pmid:27172828", "pmid:26476771", "pmid:26387956", "pmid:26374734", "pmid:26267067", "pmid:26077168", "pmid:25672822", "pmid:24972706", "pmid:24677642", "pmid:24534762", "pmid:23665119", "pmid:23475385", "pmid:21710129", "pmid:21562248", "pmid:21437269", "pmid:20587494", "pmid:20199210", "pmid:20004653", "pmid:19595623", "pmid:19566714", "pmid:18218637", "pmid:18043721", "pmid:17961920", "pmid:17420317", "pmid:17273961", "pmid:17033685", "pmid:16858508", "pmid:16626296", "pmid:16223509", "pmid:16054804", "pmid:15850778", "pmid:15533937", "pmid:15503103", "pmid:15381080", "pmid:15365789", "pmid:15225551", "pmid:15193429", "pmid:14985389", "pmid:14967767", "pmid:12953269", "pmid:12891385", "pmid:12853230", "pmid:12758065", "pmid:11939898", "pmid:11571212", "pmid:11313753", "pmid:9399691", "pmid:8886170", "pmid:7892196", "pmid:8503450"]
+ "additional_literature": ["pmid:42196324", "pmid:42038259", "pmid:41843312", "pmid:41762523", "pmid:41612618", "pmid:41009775", "pmid:40488180", "pmid:40478462", "pmid:39950762", "pmid:39820777", "pmid:39680235", "pmid:39456985", "pmid:39125760", "pmid:38973070", "pmid:38961870", "pmid:38494459", "pmid:37855597", "pmid:37632648", "pmid:37146135", "pmid:36599645", "pmid:36476347", "pmid:36422518", "pmid:35926480", "pmid:35868859", "pmid:35493319", "pmid:35482253", "pmid:35275350", "pmid:35182509", "pmid:34906452", "pmid:34600502", "pmid:34565721", "pmid:34256333", "pmid:34235484", "pmid:33502644", "pmid:33377399", "pmid:32675418", "pmid:32533168", "pmid:32386547", "pmid:31940111", "pmid:31919387", "pmid:31522753", "pmid:30920184", "pmid:30891880", "pmid:30617627", "pmid:30615214", "pmid:30532692", "pmid:30314815", "pmid:30120431", "pmid:29801887", "pmid:29564144", "pmid:29249939", "pmid:29057148", "pmid:28821675", "pmid:28585930", "pmid:28444220", "pmid:28153533", "pmid:27865706", "pmid:27400454", "pmid:27172828", "pmid:26476771", "pmid:26387956", "pmid:26374734", "pmid:26267067", "pmid:26077168", "pmid:25672822", "pmid:24972706", "pmid:24677642", "pmid:24534762", "pmid:23665119", "pmid:23475385", "pmid:21710129", "pmid:21562248", "pmid:21437269", "pmid:20587494", "pmid:20199210", "pmid:20004653", "pmid:19595623", "pmid:19566714", "pmid:18218637", "pmid:18043721", "pmid:17961920", "pmid:17420317", "pmid:17273961", "pmid:17033685", "pmid:16858508", "pmid:16626296", "pmid:16223509", "pmid:16054804", "pmid:15850778", "pmid:15533937", "pmid:15503103", "pmid:15381080", "pmid:15365789", "pmid:15225551", "pmid:15193429", "pmid:14985389", "pmid:14967767", "pmid:12953269", "pmid:12891385", "pmid:12853230", "pmid:12758065", "pmid:11939898", "pmid:11571212", "pmid:11313753", "pmid:9399691", "pmid:8886170", "pmid:7892196", "pmid:8503450"]
},
{
"id": "TOF_TBX1",
@@ -4807,7 +4807,7 @@
"locus_tags": ["length_affects_penetrance"],
"disease_tags": [],
"references": ["pmid:1676829", "pmid:21245398", "pmid:39998965", "pmid:25593321", "pmid:38467784", "genereviews:NBK535148", "pmid:25168903", "omim:613267", "pmid:20825314", "pmid:16769829", "pmid:39669694", "pmid:23185296", "pmid:40374208"],
- "additional_literature": ["pmid:42010886", "pmid:41944554", "pmid:41944537", "pmid:41865104", "pmid:41736702", "pmid:41713739", "pmid:41562921", "pmid:41533935", "pmid:41501457", "pmid:41373515", "pmid:41344296", "pmid:41298634", "pmid:41074692", "pmid:40961119", "pmid:40852795", "pmid:40767442", "pmid:40720054", "pmid:40585427", "pmid:40268158", "pmid:40081749", "pmid:40048186", "pmid:39651202", "pmid:39332053", "pmid:39288343", "pmid:39278108", "pmid:39231626", "pmid:38713708", "pmid:38704483", "pmid:38300219", "pmid:37747538", "pmid:37204786", "pmid:37169279", "pmid:36883248", "pmid:36773096", "pmid:36701310", "pmid:36275201", "pmid:36250467", "pmid:34946954", "pmid:34946867", "pmid:34855896", "pmid:34698281", "pmid:34644448", "pmid:33782268", "pmid:36246012", "pmid:33116252", "pmid:32934897", "pmid:32639312", "pmid:31554942", "pmid:31469403", "pmid:31276570", "pmid:30973406", "pmid:30811544", "pmid:30733599", "pmid:30267097", "pmid:30122888", "pmid:30098193", "pmid:29966009", "pmid:29799290", "pmid:29526280", "pmid:29325021", "pmid:29196769", "pmid:29044056", "pmid:28886202", "pmid:28832669", "pmid:28608272", "pmid:28118661", "pmid:27755191", "pmid:26401622", "pmid:26218914", "pmid:26200491", "pmid:25722209", "pmid:25298419", "pmid:24255041", "pmid:20960280", "pmid:11526470", "pmid:10712198", "pmid:10395212"]
+ "additional_literature": ["pmid:42180433", "pmid:42010886", "pmid:41944554", "pmid:41944537", "pmid:41865104", "pmid:41736702", "pmid:41713739", "pmid:41562921", "pmid:41533935", "pmid:41501457", "pmid:41373515", "pmid:41344296", "pmid:41298634", "pmid:41074692", "pmid:40961119", "pmid:40852795", "pmid:40767442", "pmid:40720054", "pmid:40585427", "pmid:40268158", "pmid:40081749", "pmid:40048186", "pmid:39651202", "pmid:39332053", "pmid:39288343", "pmid:39278108", "pmid:39231626", "pmid:38713708", "pmid:38704483", "pmid:38300219", "pmid:37747538", "pmid:37204786", "pmid:37169279", "pmid:36883248", "pmid:36773096", "pmid:36701310", "pmid:36275201", "pmid:36250467", "pmid:34946954", "pmid:34946867", "pmid:34855896", "pmid:34698281", "pmid:34644448", "pmid:33782268", "pmid:36246012", "pmid:33116252", "pmid:32934897", "pmid:32639312", "pmid:31554942", "pmid:31469403", "pmid:31276570", "pmid:30973406", "pmid:30811544", "pmid:30733599", "pmid:30267097", "pmid:30122888", "pmid:30098193", "pmid:29966009", "pmid:29799290", "pmid:29526280", "pmid:29325021", "pmid:29196769", "pmid:29044056", "pmid:28886202", "pmid:28832669", "pmid:28608272", "pmid:28118661", "pmid:27755191", "pmid:26401622", "pmid:26218914", "pmid:26200491", "pmid:25722209", "pmid:25298419", "pmid:24255041", "pmid:20960280", "pmid:11526470", "pmid:10712198", "pmid:10395212"]
},
{
"id": "SCA_THAP11",
@@ -5015,7 +5015,7 @@
"locus_tags": [],
"disease_tags": [],
"references": ["doi:10.3892/br.2025.2016"],
- "additional_literature": ["pmid:41507280", "pmid:41181325", "pmid:41074680", "pmid:41024012", "pmid:40890629", "pmid:40589716", "pmid:40195828", "pmid:38625071", "pmid:38411001", "pmid:38379425", "pmid:38311638", "pmid:38280392", "pmid:38134936", "pmid:36398398", "pmid:36209056", "pmid:35608245", "pmid:35233526", "pmid:35055435", "pmid:34650802", "pmid:34526668", "pmid:34197619", "pmid:34149004", "pmid:33805940", "pmid:33086767", "pmid:32813677", "pmid:32695278", "pmid:32612964", "pmid:32110891", "pmid:31817852", "pmid:31370354", "pmid:31161452", "pmid:30838312", "pmid:30823845", "pmid:30533396", "pmid:30464574", "pmid:30122542", "pmid:29995270", "pmid:29660633", "pmid:29394274", "pmid:29321350", "pmid:29162511", "pmid:28895423", "pmid:28349270", "pmid:28280649", "pmid:28074308", "pmid:28074022", "pmid:27995989", "pmid:27868347", "pmid:27864985", "pmid:27685916", "pmid:27375073", "pmid:29767611", "pmid:26745074", "pmid:26621114", "pmid:26277606", "pmid:26196219", "pmid:26189437", "pmid:25955097", "pmid:25648260", "pmid:25536611", "pmid:25366766", "pmid:25341694", "pmid:25294632", "pmid:25279663", "pmid:25258183", "pmid:25246386", "pmid:25028118", "pmid:25007187", "pmid:24726028", "pmid:24686188", "pmid:24641398", "pmid:24596472", "pmid:24554028", "pmid:24422758", "pmid:24415354", "pmid:24302747", "pmid:24137384", "pmid:23968134", "pmid:23571497", "pmid:23481061", "pmid:23232805", "pmid:23226765", "pmid:23148637", "pmid:22799365", "pmid:22763757", "pmid:22576918", "pmid:22086855", "pmid:22044939", "pmid:21630057", "pmid:21449681", "pmid:21269855", "pmid:21196216", "pmid:21075014", "pmid:20966539", "pmid:20962453", "pmid:20932673", "pmid:20880668", "pmid:20824655", "pmid:20651387", "pmid:20645403", "pmid:20570968", "pmid:20531375", "pmid:20372856", "pmid:20005374", "pmid:19998340", "pmid:19917450", "pmid:19798689", "pmid:19632929", "pmid:19349389", "pmid:19306093", "pmid:19200948", "pmid:19082493", "pmid:18843018", "pmid:18728661", "pmid:18704422", "pmid:18661526", "pmid:18406541", "pmid:18273818", "pmid:18267032", "pmid:18203297", "pmid:18095031", "pmid:17508355", "pmid:17396161", "pmid:17278107", "pmid:17273745", "pmid:17220568", "pmid:17201138", "pmid:17187508", "pmid:17047490", "pmid:17018589", "pmid:16929515", "pmid:16818689", "pmid:16596248", "pmid:16456808", "pmid:16334126", "pmid:16333305", "pmid:16234002", "pmid:16182121", "pmid:15897576", "pmid:15817609", "pmid:15749593", "pmid:15646842", "pmid:15579479", "pmid:15571262", "pmid:15510613", "pmid:15457444", "pmid:15386371", "pmid:15284183", "pmid:15115918", "pmid:14522928", "pmid:12684695", "pmid:12604405", "pmid:12460463", "pmid:12232785", "pmid:12215845", "pmid:12039668", "pmid:11913730", "pmid:11867566", "pmid:11751507", "pmid:11529907", "pmid:11445856", "pmid:10652619", "pmid:10636923", "pmid:10625460", "pmid:8751943", "pmid:3002689"]
+ "additional_literature": ["pmid:42083296", "pmid:41507280", "pmid:41181325", "pmid:41074680", "pmid:41024012", "pmid:40890629", "pmid:40589716", "pmid:40195828", "pmid:38625071", "pmid:38411001", "pmid:38379425", "pmid:38311638", "pmid:38280392", "pmid:38134936", "pmid:36398398", "pmid:36209056", "pmid:35608245", "pmid:35233526", "pmid:35055435", "pmid:34650802", "pmid:34526668", "pmid:34197619", "pmid:34149004", "pmid:33805940", "pmid:33086767", "pmid:32813677", "pmid:32695278", "pmid:32612964", "pmid:32110891", "pmid:31817852", "pmid:31370354", "pmid:31161452", "pmid:30838312", "pmid:30823845", "pmid:30533396", "pmid:30464574", "pmid:30122542", "pmid:29995270", "pmid:29660633", "pmid:29394274", "pmid:29321350", "pmid:29162511", "pmid:28895423", "pmid:28349270", "pmid:28280649", "pmid:28074308", "pmid:28074022", "pmid:27995989", "pmid:27868347", "pmid:27864985", "pmid:27685916", "pmid:27375073", "pmid:29767611", "pmid:26745074", "pmid:26621114", "pmid:26277606", "pmid:26196219", "pmid:26189437", "pmid:25955097", "pmid:25648260", "pmid:25536611", "pmid:25366766", "pmid:25341694", "pmid:25294632", "pmid:25279663", "pmid:25258183", "pmid:25246386", "pmid:25028118", "pmid:25007187", "pmid:24726028", "pmid:24686188", "pmid:24641398", "pmid:24596472", "pmid:24554028", "pmid:24422758", "pmid:24415354", "pmid:24302747", "pmid:24137384", "pmid:23968134", "pmid:23571497", "pmid:23481061", "pmid:23232805", "pmid:23226765", "pmid:23148637", "pmid:22799365", "pmid:22763757", "pmid:22576918", "pmid:22086855", "pmid:22044939", "pmid:21630057", "pmid:21449681", "pmid:21269855", "pmid:21196216", "pmid:21075014", "pmid:20966539", "pmid:20962453", "pmid:20932673", "pmid:20880668", "pmid:20824655", "pmid:20651387", "pmid:20645403", "pmid:20570968", "pmid:20531375", "pmid:20372856", "pmid:20005374", "pmid:19998340", "pmid:19917450", "pmid:19798689", "pmid:19632929", "pmid:19349389", "pmid:19306093", "pmid:19200948", "pmid:19082493", "pmid:18843018", "pmid:18728661", "pmid:18704422", "pmid:18661526", "pmid:18406541", "pmid:18273818", "pmid:18267032", "pmid:18203297", "pmid:18095031", "pmid:17508355", "pmid:17396161", "pmid:17278107", "pmid:17273745", "pmid:17220568", "pmid:17201138", "pmid:17187508", "pmid:17047490", "pmid:17018589", "pmid:16929515", "pmid:16818689", "pmid:16596248", "pmid:16456808", "pmid:16334126", "pmid:16333305", "pmid:16234002", "pmid:16182121", "pmid:15897576", "pmid:15817609", "pmid:15749593", "pmid:15646842", "pmid:15579479", "pmid:15571262", "pmid:15510613", "pmid:15457444", "pmid:15386371", "pmid:15284183", "pmid:15115918", "pmid:14522928", "pmid:12684695", "pmid:12604405", "pmid:12460463", "pmid:12232785", "pmid:12215845", "pmid:12039668", "pmid:11913730", "pmid:11867566", "pmid:11751507", "pmid:11529907", "pmid:11445856", "pmid:10652619", "pmid:10636923", "pmid:10625460", "pmid:8751943", "pmid:3002689"]
},
{
"id": "HMNR7_VWA1",
diff --git a/data/literature/ABCD3_batch_01.txt b/data/literature/ABCD3_batch_01.txt
index f009abd8..ba4f16ff 100644
--- a/data/literature/ABCD3_batch_01.txt
+++ b/data/literature/ABCD3_batch_01.txt
@@ -128,7 +128,7 @@ PMID- 41792844
OWN - NLM
STAT- MEDLINE
DCOM- 20260415
-LR - 20260423
+LR - 20260511
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
VI - 14
@@ -191,6 +191,10 @@ AD - Department of Neurology, Washington University School of Medicine, Saint L
MO, USA. weihlc@wustl.edu.
LA - eng
GR - R01 NS086810/NS/NINDS NIH HHS/United States
+GR - R01 AG031867/AG/NIA NIH HHS/United States
+GR - K24 AR073317/AR/NIAMS NIH HHS/United States
+GR - P50 HD104463/HD/NICHD NIH HHS/United States
+GR - R21 NS129096/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20260306
PL - England
@@ -238,15 +242,20 @@ SO - Acta Neuropathol Commun. 2026 Mar 6;14(1):90. doi: 10.1186/s40478-026-0227
PMID- 40645757
OWN - NLM
-STAT- Publisher
-LR - 20250711
+STAT- MEDLINE
+DCOM- 20260514
+LR - 20260530
IS - 1468-330X (Electronic)
+IS - 0022-3050 (Print)
IS - 0022-3050 (Linking)
-DP - 2025 Jul 11
+VI - 97
+IP - 6
+DP - 2026 May 14
TI - CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000
Genomes Project.
-LID - jnnp-2025-336590 [pii]
+PG - 479-482
LID - 10.1136/jnnp-2025-336590 [doi]
+LID - e336590
AB - BACKGROUND: CGG expansions in NOTCH2NLC and LRP12 were recently identified as a
cause of Charcot-Marie-Tooth disease (CMT) in 1.2%-10.6% of genetically
undiagnosed patients in China, Taiwan and Japan. However, their relevance in CMT
@@ -268,7 +277,7 @@ AB - BACKGROUND: CGG expansions in NOTCH2NLC and LRP12 were recently identified
non-pathogenic intermediate alleles of NOTCH2NLC and LRP12 in East Asians could
explain their ancestry-specific propensity to further expand into the full
pathogenic range.
-CI - (c) Author(s) (or their employer(s)) 2025. Re-use permitted under CC BY. Published
+CI - (c) Author(s) (or their employer(s)) 2026. Re-use permitted under CC BY. Published
by BMJ Group.
FAU - Bertini, Alessandro
AU - Bertini A
@@ -331,36 +340,54 @@ AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurol
London, UK andrea.cortese@ucl.ac.uk.
LA - eng
PT - Journal Article
-DEP - 20250711
+DEP - 20260514
PL - England
TA - J Neurol Neurosurg Psychiatry
JT - Journal of neurology, neurosurgery, and psychiatry
JID - 2985191R
+RN - 0 (NOTCH2NLC protein, human)
+RN - 0 (LDL-Receptor Related Proteins)
+RN - 0 (Nerve Tissue Proteins)
+RN - 0 (Intercellular Signaling Peptides and Proteins)
SB - IM
+MH - Humans
+MH - *Charcot-Marie-Tooth Disease/genetics
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Male
+MH - Female
+MH - Whole Genome Sequencing
+MH - LDL-Receptor Related Proteins/genetics
+MH - Adult
+MH - Asian People/genetics
+MH - Nerve Tissue Proteins
+MH - Intercellular Signaling Peptides and Proteins
+PMC - PMC13217079
OTO - NOTNLM
OT - NEUROGENETICS
OT - NEUROMUSCULAR
OT - NEUROPATHY
COIS- Competing interests: None declared.
EDAT- 2025/07/12 16:44
-MHDA- 2025/07/12 16:44
+MHDA- 2026/05/15 00:31
+PMCR- 2026/05/28
CRDT- 2025/07/11 21:13
PHST- 2025/04/24 00:00 [received]
PHST- 2025/06/11 00:00 [accepted]
-PHST- 2025/07/12 16:44 [medline]
+PHST- 2026/05/15 00:31 [medline]
PHST- 2025/07/12 16:44 [pubmed]
PHST- 2025/07/11 21:13 [entrez]
+PHST- 2026/05/28 00:00 [pmc-release]
AID - jnnp-2025-336590 [pii]
AID - 10.1136/jnnp-2025-336590 [doi]
-PST - aheadofprint
-SO - J Neurol Neurosurg Psychiatry. 2025 Jul 11:jnnp-2025-336590. doi:
+PST - epublish
+SO - J Neurol Neurosurg Psychiatry. 2026 May 14;97(6):479-482. doi:
10.1136/jnnp-2025-336590.
PMID- 39068203
OWN - NLM
STAT- MEDLINE
DCOM- 20240728
-LR - 20250102
+LR - 20260518
IS - 2041-1723 (Electronic)
IS - 2041-1723 (Linking)
VI - 15
diff --git a/data/literature/AFF3_batch_01.txt b/data/literature/AFF3_batch_01.txt
index 9a7c5e99..90aec222 100644
--- a/data/literature/AFF3_batch_01.txt
+++ b/data/literature/AFF3_batch_01.txt
@@ -3,7 +3,7 @@ PMID- 40417743
OWN - NLM
STAT- MEDLINE
DCOM- 20250803
-LR - 20260416
+LR - 20260523
IS - 1530-0366 (Electronic)
IS - 1098-3600 (Print)
IS - 1098-3600 (Linking)
@@ -128,10 +128,12 @@ AD - Dr John T. Macdonald Foundation Department of Human Genetics and John P. H
Institute for Human Genetics, University of Miami Miller School of Medicine,
Miami, FL. Electronic address: szuchner@med.miami.edu.
LA - eng
-GR - K99 HG012796/HG/NHGRI NIH HHS/United States
GR - R00 HG012796/HG/NHGRI NIH HHS/United States
-GR - RC2 TR004391/TR/NCATS NIH HHS/United States
GR - U01 NS134353/NS/NINDS NIH HHS/United States
+GR - U01 HG007672/HG/NHGRI NIH HHS/United States
+GR - RC2 TR004391/TR/NCATS NIH HHS/United States
+GR - K99 HG012796/HG/NHGRI NIH HHS/United States
+GR - U01 NS134350/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20250522
PL - United States
@@ -801,10 +803,10 @@ CRDT- 2025/05/26 06:18
PHST- 2024/08/07 00:00 [received]
PHST- 2025/05/15 00:00 [revised]
PHST- 2025/05/16 00:00 [accepted]
-PHST- 2026/05/22 00:00 [pmc-release]
PHST- 2025/08/03 12:31 [medline]
PHST- 2025/05/26 12:37 [pubmed]
PHST- 2025/05/26 06:18 [entrez]
+PHST- 2026/05/22 00:00 [pmc-release]
AID - S1098-3600(25)00109-1 [pii]
AID - 10.1016/j.gim.2025.101462 [doi]
PST - ppublish
@@ -815,7 +817,7 @@ PMID- 39313615
OWN - NLM
STAT- MEDLINE
DCOM- 20241108
-LR - 20251103
+LR - 20260518
IS - 1546-1718 (Electronic)
IS - 1061-4036 (Print)
IS - 1061-4036 (Linking)
diff --git a/data/literature/ARX_batch_01.txt b/data/literature/ARX_batch_01.txt
index 18393cca..1f915416 100644
--- a/data/literature/ARX_batch_01.txt
+++ b/data/literature/ARX_batch_01.txt
@@ -2248,6 +2248,7 @@ STAT- MEDLINE
DCOM- 20090803
LR - 20260429
IS - 1529-2401 (Electronic)
+IS - 0270-6474 (Print)
IS - 0270-6474 (Linking)
VI - 29
IP - 27
@@ -2337,11 +2338,14 @@ PMC - PMC2782569
MID - NIHMS133699
EDAT- 2009/07/10 09:00
MHDA- 2009/08/04 09:00
+PMCR- 2010/01/08
CRDT- 2009/07/10 09:00
PHST- 2009/07/10 09:00 [entrez]
PHST- 2009/07/10 09:00 [pubmed]
PHST- 2009/08/04 09:00 [medline]
+PHST- 2010/01/08 00:00 [pmc-release]
AID - 29/27/8752 [pii]
+AID - 3501814 [pii]
AID - 10.1523/JNEUROSCI.0915-09.2009 [doi]
PST - ppublish
SO - J Neurosci. 2009 Jul 8;29(27):8752-63. doi: 10.1523/JNEUROSCI.0915-09.2009.
diff --git a/data/literature/AR_batch_01.txt b/data/literature/AR_batch_01.txt
index c6e6a63e..6bdcdc9e 100644
--- a/data/literature/AR_batch_01.txt
+++ b/data/literature/AR_batch_01.txt
@@ -1,18 +1,367 @@
+PMID- 42196324
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260527
+LR - 20260529
+IS - 1422-0067 (Electronic)
+IS - 1422-0067 (Linking)
+VI - 27
+IP - 10
+DP - 2026 May 13
+TI - Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant
+ Expansions in a Large Turkish Neurodegeneration Disease Cohort.
+LID - 10.3390/ijms27104345 [doi]
+LID - 4345
+AB - Short tandem repeat (STR) expansions are a major cause of neurodegenerative
+ disorders; however, their genetic and clinical heterogeneity complicates
+ diagnosis. STR detection remains limited in routine short-read next-generation
+ sequencing (NGS) workflows. We evaluated the diagnostic yield and clinical
+ utility of computational STR genotyping in a large Turkish neurodegenerative
+ disease cohort. ExpansionHunter was applied to NGS data from 3150 patients and
+ 146 controls, targeting 15 disease-associated STR loci. To improve genotyping of
+ poorly captured exonic regions in exome data, the default locus coverage
+ threshold was reduced from 10x to 3x. Candidate expansions were visually
+ inspected using REViewer and validated by conventional molecular methods.
+ Computational analysis detected 28 pathogenic and 160 intermediate expansions. Of
+ these, 23 were confirmed as pathogenic, and eight initially classified as
+ intermediate were reclassified as pathogenic after conventional validation,
+ resulting in 31 pathogenic cases across 28 families: HTT (n = 8), ATXN2 (n = 5),
+ ATXN1 (n = 4), DMPK (n = 3), PABPN1 (n = 3), TBP (n = 2), and single cases in AR,
+ ATN1, and CACNA1A. Lowering the coverage threshold markedly increased genotyping
+ rates at low-coverage loci in exome data, particularly in ATXN2. Genetic findings
+ were largely consistent with clinical pre-diagnosis and the additional diagnostic
+ yield was 0.95%. These findings support integrating STR analysis into routine
+ neurogenetic diagnostics.
+FAU - Khojakulov, Zakhiriddin
+AU - Khojakulov Z
+AUID- ORCID: 0000-0002-7771-8956
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Palvadeau, Robin J
+AU - Palvadeau RJ
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Kovancilar-Koc, Muge
+AU - Kovancilar-Koc M
+AUID- ORCID: 0009-0006-7125-1159
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Atay, Irmak
+AU - Atay I
+AUID- ORCID: 0009-0007-3284-7790
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Sahbaz, Irmak
+AU - Sahbaz I
+AUID- ORCID: 0000-0001-8816-9158
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Tekgul, Seyma
+AU - Tekgul S
+AUID- ORCID: 0000-0001-5223-5627
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Sahin, Ayca
+AU - Sahin A
+AUID- ORCID: 0000-0002-0948-6495
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Badakal, Esmer Zeynep Duru
+AU - Badakal EZD
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Gul-Demirkale, Tugce
+AU - Gul-Demirkale T
+AUID- ORCID: 0000-0002-1818-9839
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Ciftci, Vildan
+AU - Ciftci V
+AUID- ORCID: 0000-0002-4441-6062
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Bayraktar, Elif
+AU - Bayraktar E
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Tunca, Ceren
+AU - Tunca C
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Smolina, Natalia
+AU - Smolina N
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Akcimen, Fulya
+AU - Akcimen F
+AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
+ Health, Bethesda, MD 20892, USA.
+FAU - Basak, Ayse Nazli
+AU - Basak AN
+AUID- ORCID: 0000-0001-6977-2517
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+LA - eng
+GR - Suna and Inan Kirac Foundation/Suna and Inan Kirac Foundation/
+GR - Koc university/Koc University/
+PT - Journal Article
+DEP - 20260513
+PL - Switzerland
+TA - Int J Mol Sci
+JT - International journal of molecular sciences
+JID - 101092791
+SB - IM
+MH - Humans
+MH - *Microsatellite Repeats/genetics
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Turkey/epidemiology
+MH - High-Throughput Nucleotide Sequencing
+MH - Genotype
+MH - Female
+MH - *Genotyping Techniques/methods
+MH - Male
+MH - Cohort Studies
+MH - *DNA Repeat Expansion
+MH - Computational Biology/methods
+PMC - PMC13207311
+OTO - NOTNLM
+OT - ExpansionHunter
+OT - NGS
+OT - STR
+OT - computational genotyping
+OT - neurodegenerative diseases
+OT - short tandem repeats
+COIS- The authors declare no conflicts of interest. The contributions of the NIH
+ author(s) are considered Works of the United States Government. The findings and
+ conclusions presented in this paper are those of the author(s) and do not
+ necessarily reflect the views of the NIH or the U.S. Department of Health and
+ Human Services.
+EDAT- 2026/05/27 06:33
+MHDA- 2026/05/27 06:34
+PMCR- 2026/05/13
+CRDT- 2026/05/27 01:16
+PHST- 2026/03/05 00:00 [received]
+PHST- 2026/04/04 00:00 [revised]
+PHST- 2026/04/09 00:00 [accepted]
+PHST- 2026/05/27 06:34 [medline]
+PHST- 2026/05/27 06:33 [pubmed]
+PHST- 2026/05/27 01:16 [entrez]
+PHST- 2026/05/13 00:00 [pmc-release]
+AID - ijms27104345 [pii]
+AID - ijms-27-04345 [pii]
+AID - 10.3390/ijms27104345 [doi]
+PST - epublish
+SO - Int J Mol Sci. 2026 May 13;27(10):4345. doi: 10.3390/ijms27104345.
+
+PMID- 42138244
+OWN - NLM
+STAT- Publisher
+LR - 20260515
+IS - 2047-2927 (Electronic)
+IS - 2047-2919 (Linking)
+DP - 2026 May 15
+TI - Limited Clinical Impact of Androgen Receptor Repeat Length (CAG and GGC) in
+ Klinefelter Syndrome: A Multivariable Analysis.
+LID - 10.1111/andr.70250 [doi]
+AB - BACKGROUND: Klinefelter syndrome (KS) is characterized by marked phenotypic
+ heterogeneity that might be influenced by genetic modifiers, including androgen
+ receptor (AR) repeat length (CAGn and GGCn). The clinical relevance of these
+ repeat lengths in patients with KS before testosterone replacement therapy (TRT)
+ remains unclear. OBJECTIVES: To investigate the association between AR repeat
+ length and anthropometric, hormonal, metabolic, and reproductive parameters in a
+ well-characterized cohort of untreated adult patients with KS. MATERIALS AND
+ METHODS: In this cross-sectional single-center study, 214 men with classical 47,
+ XXY karyotype were evaluated prior to TRT. Clinical, biochemical, and
+ reproductive parameters were analyzed according to AR CAGn and GGCn repeat
+ length. Nonparametric tests, multivariable linear and logistic regression models,
+ and interaction terms between CAGn and GGCn were tested. Standardized beta
+ coefficients were used to compare the relative contribution of AR repeat length
+ with major clinical determinants. RESULTS: In unadjusted analyses, CAG repeat
+ length was associated with estradiol concentrations, whereas GGC repeat length
+ showed associations with hematocrit, platelet count, and total cholesterol.
+ However, most associations were characterized by small effect sizes and did not
+ persist after multivariable adjustment for possible confounders (age, BMI, and
+ total testosterone levels). Moreover, AR repeat length was not associated with
+ sperm retrieval rate. Standardized beta analyses demonstrated that testosterone
+ levels, BMI, and age accounted for the largest proportion of phenotypic
+ variability, whereas CAGn and GGCn repeat length had minimal roles. DISCUSSION
+ AND CONCLUSION: In untreated patients with KS, AR repeat length (CAGn and GGCn)
+ appears to have a limited clinical impact compared with classical endocrine and
+ metabolic determinants. These findings suggest that phenotypic variability in KS
+ might be primarily driven by chromosomal aneuploidy and primary testicular
+ dysfunction rather than AR repeat length.
+CI - (c) 2026 The Author(s). Andrology published by Wiley Periodicals LLC on behalf of
+ American Society of Andrology and European Academy of Andrology.
+FAU - Graziani, Andrea
+AU - Graziani A
+AUID- ORCID: 0000-0002-3239-2374
+AD - Department of Medicine, University of Padova, Padova, Italy.
+AD - Department of Systems Medicine, Unit of Andrology and Reproductive Medicine,
+ University Hospital of Padova, Padova, Italy.
+FAU - Scala, Alberto
+AU - Scala A
+AD - Department of Medicine, University of Padova, Padova, Italy.
+FAU - Rocca, Maria Santa
+AU - Rocca MS
+AD - Department of Systems Medicine, Unit of Andrology and Reproductive Medicine,
+ University Hospital of Padova, Padova, Italy.
+FAU - Vinanzi, Cinzia
+AU - Vinanzi C
+AD - Department of Systems Medicine, Unit of Andrology and Reproductive Medicine,
+ University Hospital of Padova, Padova, Italy.
+FAU - Grande, Giuseppe
+AU - Grande G
+AUID- ORCID: 0000-0003-3264-0937
+AD - Department of Systems Medicine, Unit of Andrology and Reproductive Medicine,
+ University Hospital of Padova, Padova, Italy.
+FAU - Di Nisio, Andrea
+AU - Di Nisio A
+AD - Department of Psychology and Health Sciences, Pegaso University, Naples, Italy.
+FAU - Selice, Riccardo
+AU - Selice R
+AD - Department of Systems Medicine, Unit of Andrology and Reproductive Medicine,
+ University Hospital of Padova, Padova, Italy.
+FAU - Di Mambro, Antonella
+AU - Di Mambro A
+AD - Department of Systems Medicine, Unit of Andrology and Reproductive Medicine,
+ University Hospital of Padova, Padova, Italy.
+FAU - Ferlin, Alberto
+AU - Ferlin A
+AUID- ORCID: 0000-0001-5817-8141
+AD - Department of Medicine, University of Padova, Padova, Italy.
+AD - Department of Systems Medicine, Unit of Andrology and Reproductive Medicine,
+ University Hospital of Padova, Padova, Italy.
+LA - eng
+PT - Journal Article
+DEP - 20260515
+PL - England
+TA - Andrology
+JT - Andrology
+JID - 101585129
+SB - IM
+OTO - NOTNLM
+OT - CAG
+OT - GGC
+OT - Klinefelter syndrome
+OT - androgen receptor
+OT - hypogonadism
+OT - testicular biopsy
+EDAT- 2026/05/15 17:37
+MHDA- 2026/05/15 17:37
+CRDT- 2026/05/15 07:53
+PHST- 2026/04/16 00:00 [revised]
+PHST- 2026/03/13 00:00 [received]
+PHST- 2026/04/20 00:00 [accepted]
+PHST- 2026/05/15 17:37 [medline]
+PHST- 2026/05/15 17:37 [pubmed]
+PHST- 2026/05/15 07:53 [entrez]
+AID - 10.1111/andr.70250 [doi]
+PST - aheadofprint
+SO - Andrology. 2026 May 15. doi: 10.1111/andr.70250.
+
+PMID- 42070078
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260503
+LR - 20260509
+IS - 1941-5923 (Electronic)
+IS - 1941-5923 (Linking)
+VI - 27
+DP - 2026 May 3
+TI - Progressive Proximal Muscle Weakness Due to a 51 CAG Repeat Expansion in Exon 1
+ of the Androgen Receptor Gene: A Case Report of Kennedy Disease.
+PG - e951080
+LID - 10.12659/AJCR.951080 [doi]
+LID - e951080
+AB - BACKGROUND Kennedy disease, also known as spinal and bulbar muscular atrophy
+ (SBMA), is a rare and incurable X-linked neuromuscular disorder mainly affecting
+ men aged 30 to 60 years. Polymyositis can present similarly, but can be excluded
+ by measuring muscle enzymes, performing muscle imaging, and electromyography.
+ This report describes the case of a 52-year-old man with a 10-year history of
+ progressive limb weakness due to Kennedy disease, established by genetic testing.
+ CASE REPORT A 52-year-old man presented with a 10-year history of gradually
+ progressive proximal limb weakness and persistently elevated creatine kinase
+ levels ranging from 808-2300 U/L (normal 39-308 U/L). One year prior to this
+ admission, the limb weakness had worsened, but initial electromyography,
+ neuroimaging, and muscle biopsy showed no specific abnormalities. Despite a trial
+ of immunosuppressive therapy due to suspected polymyositis, there was no clinical
+ improvement. Neurological examination later revealed gynecomastia, proximal
+ muscle atrophy, and bilateral tongue atrophy with tremor. Electromyography showed
+ chronic neurogenic changes and reduced sensory nerve action potentials. Repeat
+ expansion analysis identified a hemizygous pathogenic CAG repeat expansion in
+ exon 1 of the androgen receptor gene using a short-read next-generation
+ sequencing-based repeat detection algorithm (ExpansionHunter), with an estimated
+ repeat number of 51 (range 50-53). At 6-month follow-up, the patient demonstrated
+ mild progression of motor symptoms but remained functionally stable. CONCLUSIONS
+ This report presents a rare case of Kennedy disease, initially diagnosed as
+ polymyositis, and highlights the importance of follow-up with genetic testing
+ when neurological and electromyography investigations are not typical for
+ polymyositis. Early identification of Kennedy disease helps avoid unnecessary
+ immunosuppressive treatments.
+FAU - Thi Tuong Vi, Nguyen
+AU - Thi Tuong Vi N
+AD - College of Health Sciences, VinUniversity, Hanoi, Vietnam.
+FAU - Huu Thanh, Nguyen
+AU - Huu Thanh N
+AD - College of Health Sciences, VinUniversity, Hanoi, Vietnam.
+AD - Department of Gastroenterology, Vinmec Times City International Hospital, Hanoi,
+ Vietnam.
+FAU - Thi Bien, Dong
+AU - Thi Bien D
+AD - Department of Neurology, 108 Military Central Hospital, Hanoi, Vietnam.
+FAU - Hong Quan, Nguyen
+AU - Hong Quan N
+AD - Department of Neurology, 108 Military Central Hospital, Hanoi, Vietnam.
+LA - eng
+PT - Case Reports
+PT - Journal Article
+DEP - 20260503
+PL - United States
+TA - Am J Case Rep
+JT - The American journal of case reports
+JID - 101489566
+RN - 0 (Receptors, Androgen)
+SB - IM
+MH - Humans
+MH - Male
+MH - *Bulbo-Spinal Atrophy, X-Linked/genetics/diagnosis
+MH - Middle Aged
+MH - *Receptors, Androgen/genetics
+MH - *Muscle Weakness/etiology/genetics
+MH - Electromyography
+MH - Exons
+MH - *Trinucleotide Repeat Expansion
+PMC - PMC13151774
+COIS- Conflict of interest: None declared
+EDAT- 2026/05/03 06:37
+MHDA- 2026/05/03 06:38
+PMCR- 2026/05/03
+CRDT- 2026/05/03 01:22
+PHST- 2026/05/03 06:38 [medline]
+PHST- 2026/05/03 06:37 [pubmed]
+PHST- 2026/05/03 01:22 [entrez]
+PHST- 2026/05/03 00:00 [pmc-release]
+AID - 951080 [pii]
+AID - 10.12659/AJCR.951080 [doi]
+PST - epublish
+SO - Am J Case Rep. 2026 May 3;27:e951080. doi: 10.12659/AJCR.951080.
+
PMID- 42067676
OWN - NLM
STAT- MEDLINE
DCOM- 20260501
-LR - 20260501
+LR - 20260509
IS - 1590-3478 (Electronic)
+IS - 1590-1874 (Print)
IS - 1590-1874 (Linking)
VI - 47
IP - 5
DP - 2026 May 2
TI - Reliability and construct validity of the Italian version of AMAT scale in SBMA
subjects.
-LID - 470 [pii]
LID - 10.1007/s10072-026-09052-x [doi]
+LID - 470
AB - BACKGROUND: Spinal and Bulbar Muscular Atrophy (SBMA) is a rare X-linked
polyglutamine disorder characterized by a CAG trinucleotide repeat expansion in
the androgen receptor gene. This leads to progressive lower motor neuron
@@ -99,6 +448,7 @@ MH - *Bulbo-Spinal Atrophy, X-Linked/diagnosis/physiopathology
MH - Aged
MH - Adult
MH - Severity of Illness Index
+PMC - PMC13135011
OTO - NOTNLM
OT - AMAT scale
OT - Italian translation
@@ -109,13 +459,16 @@ COIS- Declarations. Informed consent: Informed consent was obtained from all sub
competing interests to declare.
EDAT- 2026/05/02 00:33
MHDA- 2026/05/02 00:34
+PMCR- 2026/05/02
CRDT- 2026/05/01 23:18
-PHST- 2026/05/02 00:34 [medline]
-PHST- 2026/05/02 00:33 [pubmed]
PHST- 2026/02/26 00:00 [received]
PHST- 2026/04/15 00:00 [accepted]
+PHST- 2026/05/02 00:34 [medline]
+PHST- 2026/05/02 00:33 [pubmed]
PHST- 2026/05/01 23:18 [entrez]
+PHST- 2026/05/02 00:00 [pmc-release]
AID - 10.1007/s10072-026-09052-x [pii]
+AID - 9052 [pii]
AID - 10.1007/s10072-026-09052-x [doi]
PST - epublish
SO - Neurol Sci. 2026 May 2;47(5):470. doi: 10.1007/s10072-026-09052-x.
@@ -632,9 +985,8 @@ SO - Mol Ther Nucleic Acids. 2025 Dec 11;37(1):102802. doi:
PMID- 41513898
OWN - NLM
-STAT- MEDLINE
-DCOM- 20260109
-LR - 20260318
+STAT- In-Process
+LR - 20260601
IS - 1432-1459 (Electronic)
IS - 0340-5354 (Print)
IS - 0340-5354 (Linking)
@@ -2195,7 +2547,7 @@ PMID- 39694906
OWN - NLM
STAT- MEDLINE
DCOM- 20250603
-LR - 20250603
+LR - 20260514
IS - 1432-5241 (Electronic)
IS - 0364-216X (Linking)
VI - 49
@@ -4453,7 +4805,7 @@ PMID- 36797998
OWN - NLM
STAT- MEDLINE
DCOM- 20230705
-LR - 20250530
+LR - 20260518
IS - 1460-2156 (Electronic)
IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
@@ -6982,7 +7334,7 @@ PMID- 35182509
OWN - NLM
STAT- MEDLINE
DCOM- 20220321
-LR - 20260127
+LR - 20260518
IS - 1474-4465 (Electronic)
IS - 1474-4422 (Print)
IS - 1474-4422 (Linking)
@@ -8205,7 +8557,7 @@ PMID- 34372915
OWN - NLM
STAT- MEDLINE
DCOM- 20220216
-LR - 20220216
+LR - 20260518
IS - 1756-994X (Electronic)
IS - 1756-994X (Linking)
VI - 13
@@ -23710,6 +24062,7 @@ AID - 10.1002/mus.23413 [doi]
PST - ppublish
SO - Muscle Nerve. 2012 Nov;46(5):692-7. doi: 10.1002/mus.23413. Epub 2012 Aug 31.
+
PMID- 22819977
OWN - NLM
STAT- MEDLINE
@@ -23969,7 +24322,6 @@ AID - 10.1590/s1677-55382012000300010 [doi]
PST - ppublish
SO - Int Braz J Urol. 2012 May-Jun;38(3):373-9. doi: 10.1590/s1677-55382012000300010.
-
PMID- 22736030
OWN - NLM
STAT- MEDLINE
@@ -27261,6 +27613,7 @@ STAT- MEDLINE
DCOM- 20090416
LR - 20250529
IS - 1529-2401 (Electronic)
+IS - 0270-6474 (Print)
IS - 0270-6474 (Linking)
VI - 29
IP - 7
@@ -27371,11 +27724,14 @@ PMC - PMC2746676
MID - NIHMS96954
EDAT- 2009/02/21 09:00
MHDA- 2009/04/17 09:00
+PMCR- 2009/08/18
CRDT- 2009/02/21 09:00
PHST- 2009/02/21 09:00 [entrez]
PHST- 2009/02/21 09:00 [pubmed]
PHST- 2009/04/17 09:00 [medline]
+PHST- 2009/08/18 00:00 [pmc-release]
AID - 29/7/1987 [pii]
+AID - 3451545 [pii]
AID - 10.1523/JNEUROSCI.4072-08.2009 [doi]
PST - ppublish
SO - J Neurosci. 2009 Feb 18;29(7):1987-97. doi: 10.1523/JNEUROSCI.4072-08.2009.
@@ -41239,6 +41595,7 @@ AID - 10.1016/s0959-8049(99)00310-x [doi]
PST - ppublish
SO - Eur J Cancer. 2000 Mar;36(4):533-4. doi: 10.1016/s0959-8049(99)00310-x.
+
PMID- 10717003
OWN - NLM
STAT- MEDLINE
@@ -41487,7 +41844,6 @@ AID - 10.1016/s0304-3940(99)00844-7 [doi]
PST - ppublish
SO - Neurosci Lett. 1999 Dec 17;277(1):9-12. doi: 10.1016/s0304-3940(99)00844-7.
-
PMID- 10637497
OWN - NLM
STAT- MEDLINE
diff --git a/data/literature/ATN1_batch_01.txt b/data/literature/ATN1_batch_01.txt
index 0924944b..ade70169 100644
--- a/data/literature/ATN1_batch_01.txt
+++ b/data/literature/ATN1_batch_01.txt
@@ -1,4 +1,159 @@
+PMID- 42196324
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260527
+LR - 20260529
+IS - 1422-0067 (Electronic)
+IS - 1422-0067 (Linking)
+VI - 27
+IP - 10
+DP - 2026 May 13
+TI - Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant
+ Expansions in a Large Turkish Neurodegeneration Disease Cohort.
+LID - 10.3390/ijms27104345 [doi]
+LID - 4345
+AB - Short tandem repeat (STR) expansions are a major cause of neurodegenerative
+ disorders; however, their genetic and clinical heterogeneity complicates
+ diagnosis. STR detection remains limited in routine short-read next-generation
+ sequencing (NGS) workflows. We evaluated the diagnostic yield and clinical
+ utility of computational STR genotyping in a large Turkish neurodegenerative
+ disease cohort. ExpansionHunter was applied to NGS data from 3150 patients and
+ 146 controls, targeting 15 disease-associated STR loci. To improve genotyping of
+ poorly captured exonic regions in exome data, the default locus coverage
+ threshold was reduced from 10x to 3x. Candidate expansions were visually
+ inspected using REViewer and validated by conventional molecular methods.
+ Computational analysis detected 28 pathogenic and 160 intermediate expansions. Of
+ these, 23 were confirmed as pathogenic, and eight initially classified as
+ intermediate were reclassified as pathogenic after conventional validation,
+ resulting in 31 pathogenic cases across 28 families: HTT (n = 8), ATXN2 (n = 5),
+ ATXN1 (n = 4), DMPK (n = 3), PABPN1 (n = 3), TBP (n = 2), and single cases in AR,
+ ATN1, and CACNA1A. Lowering the coverage threshold markedly increased genotyping
+ rates at low-coverage loci in exome data, particularly in ATXN2. Genetic findings
+ were largely consistent with clinical pre-diagnosis and the additional diagnostic
+ yield was 0.95%. These findings support integrating STR analysis into routine
+ neurogenetic diagnostics.
+FAU - Khojakulov, Zakhiriddin
+AU - Khojakulov Z
+AUID- ORCID: 0000-0002-7771-8956
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Palvadeau, Robin J
+AU - Palvadeau RJ
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Kovancilar-Koc, Muge
+AU - Kovancilar-Koc M
+AUID- ORCID: 0009-0006-7125-1159
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Atay, Irmak
+AU - Atay I
+AUID- ORCID: 0009-0007-3284-7790
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Sahbaz, Irmak
+AU - Sahbaz I
+AUID- ORCID: 0000-0001-8816-9158
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Tekgul, Seyma
+AU - Tekgul S
+AUID- ORCID: 0000-0001-5223-5627
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Sahin, Ayca
+AU - Sahin A
+AUID- ORCID: 0000-0002-0948-6495
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Badakal, Esmer Zeynep Duru
+AU - Badakal EZD
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Gul-Demirkale, Tugce
+AU - Gul-Demirkale T
+AUID- ORCID: 0000-0002-1818-9839
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Ciftci, Vildan
+AU - Ciftci V
+AUID- ORCID: 0000-0002-4441-6062
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Bayraktar, Elif
+AU - Bayraktar E
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Tunca, Ceren
+AU - Tunca C
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Smolina, Natalia
+AU - Smolina N
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Akcimen, Fulya
+AU - Akcimen F
+AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
+ Health, Bethesda, MD 20892, USA.
+FAU - Basak, Ayse Nazli
+AU - Basak AN
+AUID- ORCID: 0000-0001-6977-2517
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+LA - eng
+GR - Suna and Inan Kirac Foundation/Suna and Inan Kirac Foundation/
+GR - Koc university/Koc University/
+PT - Journal Article
+DEP - 20260513
+PL - Switzerland
+TA - Int J Mol Sci
+JT - International journal of molecular sciences
+JID - 101092791
+SB - IM
+MH - Humans
+MH - *Microsatellite Repeats/genetics
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Turkey/epidemiology
+MH - High-Throughput Nucleotide Sequencing
+MH - Genotype
+MH - Female
+MH - *Genotyping Techniques/methods
+MH - Male
+MH - Cohort Studies
+MH - *DNA Repeat Expansion
+MH - Computational Biology/methods
+PMC - PMC13207311
+OTO - NOTNLM
+OT - ExpansionHunter
+OT - NGS
+OT - STR
+OT - computational genotyping
+OT - neurodegenerative diseases
+OT - short tandem repeats
+COIS- The authors declare no conflicts of interest. The contributions of the NIH
+ author(s) are considered Works of the United States Government. The findings and
+ conclusions presented in this paper are those of the author(s) and do not
+ necessarily reflect the views of the NIH or the U.S. Department of Health and
+ Human Services.
+EDAT- 2026/05/27 06:33
+MHDA- 2026/05/27 06:34
+PMCR- 2026/05/13
+CRDT- 2026/05/27 01:16
+PHST- 2026/03/05 00:00 [received]
+PHST- 2026/04/04 00:00 [revised]
+PHST- 2026/04/09 00:00 [accepted]
+PHST- 2026/05/27 06:34 [medline]
+PHST- 2026/05/27 06:33 [pubmed]
+PHST- 2026/05/27 01:16 [entrez]
+PHST- 2026/05/13 00:00 [pmc-release]
+AID - ijms27104345 [pii]
+AID - ijms-27-04345 [pii]
+AID - 10.3390/ijms27104345 [doi]
+PST - epublish
+SO - Int J Mol Sci. 2026 May 13;27(10):4345. doi: 10.3390/ijms27104345.
+
PMID- 41624332
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -2711,7 +2866,7 @@ PMID- 35182509
OWN - NLM
STAT- MEDLINE
DCOM- 20220321
-LR - 20260127
+LR - 20260518
IS - 1474-4465 (Electronic)
IS - 1474-4422 (Print)
IS - 1474-4422 (Linking)
@@ -6108,7 +6263,7 @@ PMID- 24972706
OWN - NLM
STAT- MEDLINE
DCOM- 20141106
-LR - 20250529
+LR - 20260518
IS - 1460-2156 (Electronic)
IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
diff --git a/data/literature/ATXN1_batch_01.txt b/data/literature/ATXN1_batch_01.txt
index c9061d94..1cf2fb3b 100644
--- a/data/literature/ATXN1_batch_01.txt
+++ b/data/literature/ATXN1_batch_01.txt
@@ -1,4 +1,159 @@
+PMID- 42196324
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260527
+LR - 20260529
+IS - 1422-0067 (Electronic)
+IS - 1422-0067 (Linking)
+VI - 27
+IP - 10
+DP - 2026 May 13
+TI - Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant
+ Expansions in a Large Turkish Neurodegeneration Disease Cohort.
+LID - 10.3390/ijms27104345 [doi]
+LID - 4345
+AB - Short tandem repeat (STR) expansions are a major cause of neurodegenerative
+ disorders; however, their genetic and clinical heterogeneity complicates
+ diagnosis. STR detection remains limited in routine short-read next-generation
+ sequencing (NGS) workflows. We evaluated the diagnostic yield and clinical
+ utility of computational STR genotyping in a large Turkish neurodegenerative
+ disease cohort. ExpansionHunter was applied to NGS data from 3150 patients and
+ 146 controls, targeting 15 disease-associated STR loci. To improve genotyping of
+ poorly captured exonic regions in exome data, the default locus coverage
+ threshold was reduced from 10x to 3x. Candidate expansions were visually
+ inspected using REViewer and validated by conventional molecular methods.
+ Computational analysis detected 28 pathogenic and 160 intermediate expansions. Of
+ these, 23 were confirmed as pathogenic, and eight initially classified as
+ intermediate were reclassified as pathogenic after conventional validation,
+ resulting in 31 pathogenic cases across 28 families: HTT (n = 8), ATXN2 (n = 5),
+ ATXN1 (n = 4), DMPK (n = 3), PABPN1 (n = 3), TBP (n = 2), and single cases in AR,
+ ATN1, and CACNA1A. Lowering the coverage threshold markedly increased genotyping
+ rates at low-coverage loci in exome data, particularly in ATXN2. Genetic findings
+ were largely consistent with clinical pre-diagnosis and the additional diagnostic
+ yield was 0.95%. These findings support integrating STR analysis into routine
+ neurogenetic diagnostics.
+FAU - Khojakulov, Zakhiriddin
+AU - Khojakulov Z
+AUID- ORCID: 0000-0002-7771-8956
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Palvadeau, Robin J
+AU - Palvadeau RJ
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Kovancilar-Koc, Muge
+AU - Kovancilar-Koc M
+AUID- ORCID: 0009-0006-7125-1159
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Atay, Irmak
+AU - Atay I
+AUID- ORCID: 0009-0007-3284-7790
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Sahbaz, Irmak
+AU - Sahbaz I
+AUID- ORCID: 0000-0001-8816-9158
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Tekgul, Seyma
+AU - Tekgul S
+AUID- ORCID: 0000-0001-5223-5627
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Sahin, Ayca
+AU - Sahin A
+AUID- ORCID: 0000-0002-0948-6495
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Badakal, Esmer Zeynep Duru
+AU - Badakal EZD
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Gul-Demirkale, Tugce
+AU - Gul-Demirkale T
+AUID- ORCID: 0000-0002-1818-9839
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Ciftci, Vildan
+AU - Ciftci V
+AUID- ORCID: 0000-0002-4441-6062
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Bayraktar, Elif
+AU - Bayraktar E
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Tunca, Ceren
+AU - Tunca C
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Smolina, Natalia
+AU - Smolina N
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Akcimen, Fulya
+AU - Akcimen F
+AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
+ Health, Bethesda, MD 20892, USA.
+FAU - Basak, Ayse Nazli
+AU - Basak AN
+AUID- ORCID: 0000-0001-6977-2517
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+LA - eng
+GR - Suna and Inan Kirac Foundation/Suna and Inan Kirac Foundation/
+GR - Koc university/Koc University/
+PT - Journal Article
+DEP - 20260513
+PL - Switzerland
+TA - Int J Mol Sci
+JT - International journal of molecular sciences
+JID - 101092791
+SB - IM
+MH - Humans
+MH - *Microsatellite Repeats/genetics
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Turkey/epidemiology
+MH - High-Throughput Nucleotide Sequencing
+MH - Genotype
+MH - Female
+MH - *Genotyping Techniques/methods
+MH - Male
+MH - Cohort Studies
+MH - *DNA Repeat Expansion
+MH - Computational Biology/methods
+PMC - PMC13207311
+OTO - NOTNLM
+OT - ExpansionHunter
+OT - NGS
+OT - STR
+OT - computational genotyping
+OT - neurodegenerative diseases
+OT - short tandem repeats
+COIS- The authors declare no conflicts of interest. The contributions of the NIH
+ author(s) are considered Works of the United States Government. The findings and
+ conclusions presented in this paper are those of the author(s) and do not
+ necessarily reflect the views of the NIH or the U.S. Department of Health and
+ Human Services.
+EDAT- 2026/05/27 06:33
+MHDA- 2026/05/27 06:34
+PMCR- 2026/05/13
+CRDT- 2026/05/27 01:16
+PHST- 2026/03/05 00:00 [received]
+PHST- 2026/04/04 00:00 [revised]
+PHST- 2026/04/09 00:00 [accepted]
+PHST- 2026/05/27 06:34 [medline]
+PHST- 2026/05/27 06:33 [pubmed]
+PHST- 2026/05/27 01:16 [entrez]
+PHST- 2026/05/13 00:00 [pmc-release]
+AID - ijms27104345 [pii]
+AID - ijms-27-04345 [pii]
+AID - 10.3390/ijms27104345 [doi]
+PST - epublish
+SO - Int J Mol Sci. 2026 May 13;27(10):4345. doi: 10.3390/ijms27104345.
+
PMID- 41727128
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -3822,7 +3977,7 @@ PMID- 35182509
OWN - NLM
STAT- MEDLINE
DCOM- 20220321
-LR - 20260127
+LR - 20260518
IS - 1474-4465 (Electronic)
IS - 1474-4422 (Print)
IS - 1474-4422 (Linking)
@@ -4606,7 +4761,7 @@ PMID- 34372915
OWN - NLM
STAT- MEDLINE
DCOM- 20220216
-LR - 20220216
+LR - 20260518
IS - 1756-994X (Electronic)
IS - 1756-994X (Linking)
VI - 13
@@ -5298,7 +5453,7 @@ SO - Mov Disord. 2021 Feb;36(2):514-518. doi: 10.1002/mds.28341. Epub 2020 Nov
PMID- 32954321
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20250530
+LR - 20260518
IS - 2632-1297 (Electronic)
IS - 2632-1297 (Linking)
VI - 2
@@ -9138,7 +9293,7 @@ PMID- 24972706
OWN - NLM
STAT- MEDLINE
DCOM- 20141106
-LR - 20250529
+LR - 20260518
IS - 1460-2156 (Electronic)
IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
diff --git a/data/literature/ATXN2_batch_01.txt b/data/literature/ATXN2_batch_01.txt
index 9aa3576f..7890a374 100644
--- a/data/literature/ATXN2_batch_01.txt
+++ b/data/literature/ATXN2_batch_01.txt
@@ -1,12 +1,538 @@
-PMID- 42019185
+PMID- 42204920
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260528
+LR - 20260529
+IS - 2162-3279 (Electronic)
+VI - 16
+IP - 6
+DP - 2026 Jun
+TI - Genetic Variants and Clinical Characteristics of Young-Onset Parkinson's Disease
+ in the Hakka Population of Western Fujian.
+PG - e71504
+LID - 10.1002/brb3.71504 [doi]
+AB - RESEARCH OBJECTIVE: Young-onset Parkinson's disease (YOPD), defined by symptom
+ onset at or before 50 years of age, has a strong genetic component. The mutation
+ spectra vary markedly across ethnic groups. However, YOPD among the Hakka, a
+ subgroup of the Han Chinese ethnicity, remains uncharacterized. We investigated
+ the genetic and clinical profiles of YOPD in the Hakka population of western
+ Fujian. MATERIALS AND METHODS: A total of 33 unrelated patients with YOPD were
+ included in the study. All patients underwent whole exome sequencing (WES) to
+ screen all known Parkinson's disease (PD)-related genes. Patients with a family
+ history also received a spinocerebellar ataxia (SCA) gene panel test. If the SCA
+ gene panel test result was negative, multiplex ligation-dependent probe
+ amplification (MLPA) for eight genes including DJ-1, ATP13A2, PINK1, UCHL1, SNCA,
+ LRRK2, PRKN, and GCH1 was performed. Potential pathogenic variants were
+ confirmed by Sanger sequencing, and both the genetic spectrum and clinical
+ characteristics of patients with YOPD were analyzed. RESULTS: After variant
+ filtering, six variants in four YOPD-related genes were identified in four
+ unrelated patients. Of these patients, two harbored pathogenic ATXN2 repeat
+ expansions. Four variants in VPS13C and PRKN, along with an SNCA exon 1-6
+ duplication, were classified as variants of uncertain significance (VUS)
+ according to the American College of Medical Genetics and Genomics (ACMG)
+ criteria. A considerable proportion of patients harbored risk variants in LRRK2.
+ Furthermore, nine unrelated patients harbored nine variants within six
+ susceptibility genes associated with YOPD, including EIF4G1, COQ2, TENM4, NR4A2,
+ UQCRC1, and GBA1. CONCLUSION: This study is the first to analyze the genetic
+ spectrum and clinical characteristics of patients with YOPD in the Hakka
+ population of western Fujian Province. Genetic testing of known pathogenic genes
+ in patients with YOPD can facilitate more accurate diagnosis.
+CI - (c) 2026 The Author(s). Brain and Behavior published by Wiley Periodicals LLC.
+FAU - Pan, Li-Ying
+AU - Pan LY
+AD - Department of Neurology, Longyan First Affiliated Hospital of Fujian Medical
+ University, Longyan, Fujian, China.
+FAU - Guo, Fang
+AU - Guo F
+AD - Department of Neurology, Longyan First Affiliated Hospital of Fujian Medical
+ University, Longyan, Fujian, China.
+FAU - Zheng, Chong
+AU - Zheng C
+AD - Department of Neurology, Longyan First Affiliated Hospital of Fujian Medical
+ University, Longyan, Fujian, China.
+FAU - Hu, Xiao-Hong
+AU - Hu XH
+AD - Department of Neurology, Longyan First Affiliated Hospital of Fujian Medical
+ University, Longyan, Fujian, China.
+FAU - Chen, Yan-Gui
+AU - Chen YG
+AD - Department of Neurology, Longyan First Affiliated Hospital of Fujian Medical
+ University, Longyan, Fujian, China.
+FAU - Lin, Rong-Rong
+AU - Lin RR
+AD - Department of Neurology, The Second Affiliated Hospital, Zhejiang University
+ School of Medicine, Hangzhou, Zhejiang, China.
+LA - eng
+GR - 2021J011434/Fujian Province Natural Science Foundation/
+PT - Journal Article
+PL - United States
+TA - Brain Behav
+JT - Brain and behavior
+JID - 101570837
+RN - Han Chinese people
+SB - IM
+MH - Adult
+MH - Female
+MH - Humans
+MH - Male
+MH - Middle Aged
+MH - Age of Onset
+MH - China/ethnology
+MH - Exome Sequencing
+MH - Genetic Predisposition to Disease
+MH - Genetic Variation
+MH - Mutation
+MH - *Parkinson Disease/genetics/ethnology
+MH - *East Asian People/genetics
+OTO - NOTNLM
+OT - Hakka population
+OT - clinical features
+OT - genetic variants
+OT - young-onset Parkinson's disease (YOPD)
+EDAT- 2026/05/28 06:33
+MHDA- 2026/05/28 06:34
+CRDT- 2026/05/28 02:43
+PHST- 2026/05/07 00:00 [revised]
+PHST- 2025/10/22 00:00 [received]
+PHST- 2026/05/12 00:00 [accepted]
+PHST- 2026/05/28 06:34 [medline]
+PHST- 2026/05/28 06:33 [pubmed]
+PHST- 2026/05/28 02:43 [entrez]
+AID - 10.1002/brb3.71504 [doi]
+PST - ppublish
+SO - Brain Behav. 2026 Jun;16(6):e71504. doi: 10.1002/brb3.71504.
+
+PMID- 42196324
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260527
+LR - 20260529
+IS - 1422-0067 (Electronic)
+IS - 1422-0067 (Linking)
+VI - 27
+IP - 10
+DP - 2026 May 13
+TI - Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant
+ Expansions in a Large Turkish Neurodegeneration Disease Cohort.
+LID - 10.3390/ijms27104345 [doi]
+LID - 4345
+AB - Short tandem repeat (STR) expansions are a major cause of neurodegenerative
+ disorders; however, their genetic and clinical heterogeneity complicates
+ diagnosis. STR detection remains limited in routine short-read next-generation
+ sequencing (NGS) workflows. We evaluated the diagnostic yield and clinical
+ utility of computational STR genotyping in a large Turkish neurodegenerative
+ disease cohort. ExpansionHunter was applied to NGS data from 3150 patients and
+ 146 controls, targeting 15 disease-associated STR loci. To improve genotyping of
+ poorly captured exonic regions in exome data, the default locus coverage
+ threshold was reduced from 10x to 3x. Candidate expansions were visually
+ inspected using REViewer and validated by conventional molecular methods.
+ Computational analysis detected 28 pathogenic and 160 intermediate expansions. Of
+ these, 23 were confirmed as pathogenic, and eight initially classified as
+ intermediate were reclassified as pathogenic after conventional validation,
+ resulting in 31 pathogenic cases across 28 families: HTT (n = 8), ATXN2 (n = 5),
+ ATXN1 (n = 4), DMPK (n = 3), PABPN1 (n = 3), TBP (n = 2), and single cases in AR,
+ ATN1, and CACNA1A. Lowering the coverage threshold markedly increased genotyping
+ rates at low-coverage loci in exome data, particularly in ATXN2. Genetic findings
+ were largely consistent with clinical pre-diagnosis and the additional diagnostic
+ yield was 0.95%. These findings support integrating STR analysis into routine
+ neurogenetic diagnostics.
+FAU - Khojakulov, Zakhiriddin
+AU - Khojakulov Z
+AUID- ORCID: 0000-0002-7771-8956
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Palvadeau, Robin J
+AU - Palvadeau RJ
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Kovancilar-Koc, Muge
+AU - Kovancilar-Koc M
+AUID- ORCID: 0009-0006-7125-1159
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Atay, Irmak
+AU - Atay I
+AUID- ORCID: 0009-0007-3284-7790
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Sahbaz, Irmak
+AU - Sahbaz I
+AUID- ORCID: 0000-0001-8816-9158
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Tekgul, Seyma
+AU - Tekgul S
+AUID- ORCID: 0000-0001-5223-5627
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Sahin, Ayca
+AU - Sahin A
+AUID- ORCID: 0000-0002-0948-6495
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Badakal, Esmer Zeynep Duru
+AU - Badakal EZD
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Gul-Demirkale, Tugce
+AU - Gul-Demirkale T
+AUID- ORCID: 0000-0002-1818-9839
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Ciftci, Vildan
+AU - Ciftci V
+AUID- ORCID: 0000-0002-4441-6062
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Bayraktar, Elif
+AU - Bayraktar E
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Tunca, Ceren
+AU - Tunca C
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Smolina, Natalia
+AU - Smolina N
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Akcimen, Fulya
+AU - Akcimen F
+AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
+ Health, Bethesda, MD 20892, USA.
+FAU - Basak, Ayse Nazli
+AU - Basak AN
+AUID- ORCID: 0000-0001-6977-2517
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+LA - eng
+GR - Suna and Inan Kirac Foundation/Suna and Inan Kirac Foundation/
+GR - Koc university/Koc University/
+PT - Journal Article
+DEP - 20260513
+PL - Switzerland
+TA - Int J Mol Sci
+JT - International journal of molecular sciences
+JID - 101092791
+SB - IM
+MH - Humans
+MH - *Microsatellite Repeats/genetics
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Turkey/epidemiology
+MH - High-Throughput Nucleotide Sequencing
+MH - Genotype
+MH - Female
+MH - *Genotyping Techniques/methods
+MH - Male
+MH - Cohort Studies
+MH - *DNA Repeat Expansion
+MH - Computational Biology/methods
+PMC - PMC13207311
+OTO - NOTNLM
+OT - ExpansionHunter
+OT - NGS
+OT - STR
+OT - computational genotyping
+OT - neurodegenerative diseases
+OT - short tandem repeats
+COIS- The authors declare no conflicts of interest. The contributions of the NIH
+ author(s) are considered Works of the United States Government. The findings and
+ conclusions presented in this paper are those of the author(s) and do not
+ necessarily reflect the views of the NIH or the U.S. Department of Health and
+ Human Services.
+EDAT- 2026/05/27 06:33
+MHDA- 2026/05/27 06:34
+PMCR- 2026/05/13
+CRDT- 2026/05/27 01:16
+PHST- 2026/03/05 00:00 [received]
+PHST- 2026/04/04 00:00 [revised]
+PHST- 2026/04/09 00:00 [accepted]
+PHST- 2026/05/27 06:34 [medline]
+PHST- 2026/05/27 06:33 [pubmed]
+PHST- 2026/05/27 01:16 [entrez]
+PHST- 2026/05/13 00:00 [pmc-release]
+AID - ijms27104345 [pii]
+AID - ijms-27-04345 [pii]
+AID - 10.3390/ijms27104345 [doi]
+PST - epublish
+SO - Int J Mol Sci. 2026 May 13;27(10):4345. doi: 10.3390/ijms27104345.
+
+PMID- 42096001
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260507
+LR - 20260510
+IS - 1473-4230 (Electronic)
+IS - 1473-4222 (Print)
+IS - 1473-4222 (Linking)
+VI - 25
+IP - 3
+DP - 2026 May 7
+TI - Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed
+ Cerebellar Ataxia - A Preliminary Study.
+LID - 10.1007/s12311-026-02003-4 [doi]
+LID - 73
+AB - Spinocerebellar ataxia type 27B (SCA27B), caused by an intronic GAA repeat
+ expansion in the FGF14 gene, has recently emerged as a major cause of late-onset
+ cerebellar ataxia (LOCA). Its prevalence and clinical profile in Central and
+ Eastern Europe remain largely unknown. To determine the frequency and phenotypic
+ characteristics of FGF14 GAA.TTC repeat expansions, a large cohort of Polish
+ patients with undiagnosed adult-onset cerebellar ataxia was investigated. We
+ retrospectively analyzed 701 patients (age of onset >/= 25 years) with adult-onset
+ cerebellar ataxia of unknown etiology, previously tested negative for SCA1, SCA2,
+ SCA3, SCA8, and RFC1 expansions. GAA.TTC repeat lengths were assessed using
+ long-range and repeat-primed PCR. Expansions >/= 250 repeats were classified as
+ pathogenic. Clinical and MRI data were evaluated where available. A control group
+ of 66 neurologically healthy individuals was also screened. Pathogenic FGF14
+ expansions (>/= 250 repeats) were identified in 4.4% (31/701) of patients,
+ including 23 with fully penetrant (>/= 300) and 8 with incompletely penetrant
+ (250-299) alleles. No pathogenic expansions were found in controls. The mean age
+ of onset was 49.8 years. Common symptoms included balance and gait disturbances,
+ cerebellar syndrome, and episodic features such as diplopia. Cerebellar atrophy
+ was present in 45% of patients with available MRI. No significant correlation
+ between repeat length and age of onset was observed. Our findings confirm that
+ FGF14 repeat expansions are an underrecognized cause of LOCA in Poland and
+ support their inclusion in standard genetic testing for adult-onset ataxias.
+ Further studies are warranted to better define penetrance and genotype-phenotype
+ correlations.
+CI - (c) 2026. The Author(s).
+FAU - Matlawska, Marta
+AU - Matlawska M
+AUID- ORCID: 0000-0003-4310-5091
+AD - Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 ,
+ 02-957, Warsaw, Poland. mmatlawska@ipin.edu.pl.
+FAU - Ziora-Jakutowicz, Karolina
+AU - Ziora-Jakutowicz K
+AD - Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 ,
+ 02-957, Warsaw, Poland.
+FAU - Dicaire, Marie-Josee
+AU - Dicaire MJ
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+FAU - Pera, Joanna
+AU - Pera J
+AD - Department of Neurology, Jagiellonian University Medical College, Krakow, Poland.
+FAU - Pellerin, David
+AU - Pellerin D
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
+ London and The National Hospital for Neurology and Neurosurgery, University
+ College London, London, United Kingdom.
+FAU - Brais, Bernard
+AU - Brais B
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+FAU - Iruzubieta, Pablo
+AU - Iruzubieta P
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+FAU - Elert-Dobkowska, Ewelina
+AU - Elert-Dobkowska E
+AD - Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 ,
+ 02-957, Warsaw, Poland.
+FAU - Sulek, Anna
+AU - Sulek A
+AD - Faculty of Medicine, Lazarski University, Warsaw, Poland.
+LA - eng
+PT - Journal Article
+DEP - 20260507
+PL - United States
+TA - Cerebellum
+JT - Cerebellum (London, England)
+JID - 101089443
+RN - 62031-54-3 (Fibroblast Growth Factors)
+RN - 0 (fibroblast growth factor 14)
+SB - IM
+MH - Humans
+MH - Male
+MH - Female
+MH - Middle Aged
+MH - *Fibroblast Growth Factors/genetics
+MH - Poland/epidemiology
+MH - Adult
+MH - *Cerebellar Ataxia/genetics/diagnosis/epidemiology
+MH - Aged
+MH - Retrospective Studies
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Age of Onset
+MH - Magnetic Resonance Imaging
+PMC - PMC13152904
+OTO - NOTNLM
+OT - FGF14 expansion
+OT - Neurodegenerative disorders
+OT - SCA27B
+OT - Spinocerebellar ataxia
+COIS- Declarations. Human Ethics and Consent to Participate: The study was conducted in
+ accordance with the Declaration of Helsinki and its subsequent amendments. The
+ protocol was approved by the Local Bioethics Committee at the Institute of
+ Psychiatry and Neurology in Warsaw (resolution no. 30/2021 November 17, 2021).
+ Consents to Participate: Informed consent was obtained from all individual
+ participants included in the study. Competing Interests: The authors declare no
+ competing interests.
+EDAT- 2026/05/07 12:36
+MHDA- 2026/05/07 12:37
+PMCR- 2026/05/07
+CRDT- 2026/05/07 11:08
+PHST- 2025/09/07 00:00 [received]
+PHST- 2026/04/09 00:00 [accepted]
+PHST- 2026/05/07 12:37 [medline]
+PHST- 2026/05/07 12:36 [pubmed]
+PHST- 2026/05/07 11:08 [entrez]
+PHST- 2026/05/07 00:00 [pmc-release]
+AID - 10.1007/s12311-026-02003-4 [pii]
+AID - 2003 [pii]
+AID - 10.1007/s12311-026-02003-4 [doi]
+PST - epublish
+SO - Cerebellum. 2026 May 7;25(3):73. doi: 10.1007/s12311-026-02003-4.
+
+PMID- 42087256
OWN - NLM
STAT- Publisher
-LR - 20260422
+LR - 20260505
+IS - 2051-5960 (Electronic)
+IS - 2051-5960 (Linking)
+DP - 2026 May 5
+TI - Targeting the integrated stress response or Ataxin-2 alleviates neurodegeneration
+ in PolyGR models of C9orf72 associated frontotemporal dementia and amyotrophic
+ lateral sclerosis.
+LID - 10.1186/s40478-026-02301-2 [doi]
+AB - Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal,
+ early-onset neurodegenerative diseases. The most common genetic cause of FTD and
+ ALS is a G4C2 hexanucleotide repeat expansion in the C9orf72 gene. This mutation
+ leads to the production of toxic dipeptide repeat proteins (DPRs), via
+ repeat-associated non-AUG (RAN) translation. These DPRs disrupt stress granule
+ (SG) dynamics, with SG regulators such as Ataxin-2 (ATXN2) implicated in disease
+ risk. The integrated stress response (ISR), a key driver of SG formation via
+ eIF2alpha phosphorylation, has been linked to C9orf72 expansions, but the role of
+ individual DPRs in ISR activation remains unclear. Here, using Drosophila models
+ expressing physiologically relevant repeat length DPRs, we identify poly(GR) as a
+ novel activator of the ISR, inducing early and sustained eIF2alpha phosphorylation
+ and SG accumulation prior to motor decline. Genetic inhibition of the ISR or
+ knockdown of ATX2, the Drosophila orthologue of ATXN2, rescues motor deficits in
+ these models. ATXN2 knockdown also reduces poly(GR) toxicity in mouse primary
+ neurons. These findings position poly(GR) as a key driver of ISR activation and
+ highlight ATXN2 and the ISR as promising therapeutic targets in
+ C9orf72-associated FTD/ALS.
+CI - (c) 2026. The Author(s).
+FAU - Harper, Nikki S
+AU - Harper NS
+AD - Division of Neuroscience and Experimental Psychology, Faculty of Biology,
+ Medicine and Health, University of Manchester, Manchester, UK.
+FAU - Sharpe, Joanne L
+AU - Sharpe JL
+AD - Sheffield Institute for Translational Neuroscience (SITraN), University of
+ Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK.
+AD - Neuroscience Institute, University of Sheffield, Sheffield, S10 2TN, UK.
+FAU - Speranza, Jasmine
+AU - Speranza J
+AD - Sheffield Institute for Translational Neuroscience (SITraN), University of
+ Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK.
+AD - Neuroscience Institute, University of Sheffield, Sheffield, S10 2TN, UK.
+FAU - Gulia, Ravinder
+AU - Gulia R
+AD - Department of Pathology and Laboratory Medicine, University of California,
+ Irvine, Irvine, CA, 92617, USA.
+FAU - Chen, Jeffrey X
+AU - Chen JX
+AD - Department of Pathology and Laboratory Medicine, University of California,
+ Irvine, Irvine, CA, 92617, USA.
+FAU - Allen, Scott P
+AU - Allen SP
+AD - Sheffield Institute for Translational Neuroscience (SITraN), University of
+ Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK.
+AD - Neuroscience Institute, University of Sheffield, Sheffield, S10 2TN, UK.
+FAU - Atwal, Manpreet S
+AU - Atwal MS
+AD - Sheffield Institute for Translational Neuroscience (SITraN), University of
+ Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK.
+AD - Neuroscience Institute, University of Sheffield, Sheffield, S10 2TN, UK.
+FAU - Pickering-Brown, Stuart
+AU - Pickering-Brown S
+AD - Division of Neuroscience and Experimental Psychology, Faculty of Biology,
+ Medicine and Health, University of Manchester, Manchester, UK.
+FAU - Livesey, Matthew R
+AU - Livesey MR
+AD - Sheffield Institute for Translational Neuroscience (SITraN), University of
+ Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK.
+AD - Neuroscience Institute, University of Sheffield, Sheffield, S10 2TN, UK.
+FAU - Bennett, Craig L
+AU - Bennett CL
+AD - Department of Pathology and Laboratory Medicine, University of California,
+ Irvine, Irvine, CA, 92617, USA.
+AD - UCI Center for Neurotherapeutics, University of California, Irvine, Irvine, CA,
+ 92697, USA.
+FAU - Prokop, Andreas
+AU - Prokop A
+AD - Division of Molecular and Cellular Function, Faculty of Biology, Medicine and
+ Health, The University of Manchester, Manchester, UK.
+FAU - La Spada, Albert R
+AU - La Spada AR
+AD - Department of Pathology and Laboratory Medicine, University of California,
+ Irvine, Irvine, CA, 92617, USA.
+AD - UCI Center for Neurotherapeutics, University of California, Irvine, Irvine, CA,
+ 92697, USA.
+AD - Department of Biological Chemistry, University of California, Irvine, Irvine, CA,
+ 92617, USA.
+AD - Department of Neurology, University of California, Irvine, Irvine, CA, 92617,
+ USA.
+AD - Department of Neurobiology and Behavior, University of California, Irvine,
+ Irvine, CA, 92697, USA.
+FAU - West, Ryan J H
+AU - West RJH
+AD - Sheffield Institute for Translational Neuroscience (SITraN), University of
+ Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK. r.j.west@sheffield.ac.uk.
+AD - Neuroscience Institute, University of Sheffield, Sheffield, S10 2TN, UK.
+ r.j.west@sheffield.ac.uk.
+LA - eng
+GR - 630/Alzheimer's Society and The Heather Corrie Impact Fund/
+GR - Livesey/Oct20/900-792/MNDA_/Motor Neurone Disease Association/United Kingdom
+GR - Livesey/Oct20/900-792/MNDA_/Motor Neurone Disease Association/United Kingdom
+GR - NIH R35 NS122140/National Institutes of Health (NIH)/
+GR - NIH R35 NS122140/National Institutes of Health (NIH)/
+GR - 510/ALZS_/Alzheimer's Society/United Kingdom
+PT - Journal Article
+DEP - 20260505
+PL - England
+TA - Acta Neuropathol Commun
+JT - Acta neuropathologica communications
+JID - 101610673
+SB - IM
+OTO - NOTNLM
+OT - Drosophila
+OT - Amyotrophic lateral sclerosis
+OT - Ataxin-2
+OT - C9orf72
+OT - Frontotemporal dementia
+OT - Integrated stress response
+OT - Motor neurone disease
+OT - Stress granules
+COIS- Declarations. Ethics approval and consent to participate: Not applicable. Consent
+ for publication: Not applicable. Competing interests: The authors declare no
+ competing interests.
+EDAT- 2026/05/06 00:33
+MHDA- 2026/05/06 00:33
+CRDT- 2026/05/05 23:55
+PHST- 2025/06/19 00:00 [received]
+PHST- 2026/04/17 00:00 [accepted]
+PHST- 2026/05/06 00:33 [medline]
+PHST- 2026/05/06 00:33 [pubmed]
+PHST- 2026/05/05 23:55 [entrez]
+AID - 10.1186/s40478-026-02301-2 [pii]
+AID - 10.1186/s40478-026-02301-2 [doi]
+PST - aheadofprint
+SO - Acta Neuropathol Commun. 2026 May 5. doi: 10.1186/s40478-026-02301-2.
+
+PMID- 42019185
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260525
+LR - 20260525
IS - 1872-8421 (Electronic)
IS - 0165-5728 (Linking)
VI - 417
-DP - 2026 Apr 19
+DP - 2026 Aug
TI - Peripheral lymphocyte subsets in spinocerebellar Ataxia type 2: Insights into
disease mechanisms and potential immunomodulation.
PG - 578940
@@ -103,6 +629,15 @@ TA - J Neuroimmunol
JT - Journal of neuroimmunology
JID - 8109498
SB - IM
+MH - Humans
+MH - Male
+MH - Female
+MH - Middle Aged
+MH - Adult
+MH - *Spinocerebellar Ataxias/immunology/blood
+MH - *Lymphocyte Subsets/immunology
+MH - *Immunomodulation/physiology
+MH - Aged
OTO - NOTNLM
OT - B lymphocytes
OT - Flow cytometry
@@ -112,28 +647,33 @@ OT - T lymphocytes
COIS- Declaration of competing interest On behalf of all authors, the corresponding
author states that there is no conflict of interest.
EDAT- 2026/04/23 00:31
-MHDA- 2026/04/23 00:31
+MHDA- 2026/05/25 06:31
CRDT- 2026/04/22 18:05
PHST- 2026/02/04 00:00 [received]
PHST- 2026/03/31 00:00 [revised]
PHST- 2026/04/17 00:00 [accepted]
-PHST- 2026/04/23 00:31 [medline]
+PHST- 2026/05/25 06:31 [medline]
PHST- 2026/04/23 00:31 [pubmed]
PHST- 2026/04/22 18:05 [entrez]
AID - S0165-5728(26)00088-3 [pii]
AID - 10.1016/j.jneuroim.2026.578940 [doi]
-PST - aheadofprint
-SO - J Neuroimmunol. 2026 Apr 19;417:578940. doi: 10.1016/j.jneuroim.2026.578940.
+PST - ppublish
+SO - J Neuroimmunol. 2026 Aug;417:578940. doi: 10.1016/j.jneuroim.2026.578940. Epub
+ 2026 Apr 19.
PMID- 41912844
OWN - NLM
-STAT- Publisher
-LR - 20260330
+STAT- MEDLINE
+DCOM- 20260512
+LR - 20260512
IS - 1608-3091 (Electronic)
IS - 1607-6729 (Linking)
-DP - 2026 Mar 30
+VI - 526
+IP - 1
+DP - 2026 Feb
TI - The Role of D/H Isotope Exchange in Stabilizing Trinucleotide Repeat Expansions
in the CAG Tract of the ATXN2 Gene.
+PG - 45-47
LID - 10.1134/S1607672925601659 [doi]
AB - CAG repeats in the first exon of the ATXN2 gene play a key role in the
development of a number of neurodegenerative diseases. Understanding the
@@ -176,7 +716,12 @@ PL - United States
TA - Dokl Biochem Biophys
JT - Doklady. Biochemistry and biophysics
JID - 101126895
+RN - 0 (Ataxin-2)
+RN - 0 (ATXN2 protein, human)
SB - IM
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - *Ataxin-2/genetics/chemistry
+MH - Humans
OTO - NOTNLM
OT - ATXN2 gene
OT - CAG tract
@@ -190,18 +735,19 @@ COIS- ETHICS APPROVAL AND CONSENT TO PARTICIPATE: This work does not contain any
studies involving human and animal subjects. CONFLICT OF INTEREST: The authors of
this work declare that they have no conflicts of interest.
EDAT- 2026/03/31 00:53
-MHDA- 2026/03/31 00:53
+MHDA- 2026/05/12 12:35
CRDT- 2026/03/30 23:26
PHST- 2025/10/20 00:00 [received]
PHST- 2025/11/10 00:00 [accepted]
PHST- 2025/10/30 00:00 [revised]
-PHST- 2026/03/31 00:53 [medline]
+PHST- 2026/05/12 12:35 [medline]
PHST- 2026/03/31 00:53 [pubmed]
PHST- 2026/03/30 23:26 [entrez]
AID - 10.1134/S1607672925601659 [pii]
AID - 10.1134/S1607672925601659 [doi]
-PST - aheadofprint
-SO - Dokl Biochem Biophys. 2026 Mar 30. doi: 10.1134/S1607672925601659.
+PST - ppublish
+SO - Dokl Biochem Biophys. 2026 Feb;526(1):45-47. doi: 10.1134/S1607672925601659. Epub
+ 2026 Mar 30.
PMID- 41876820
OWN - NLM
@@ -349,7 +895,7 @@ PMID- 41771688
OWN - NLM
STAT- MEDLINE
DCOM- 20260308
-LR - 20260308
+LR - 20260531
IS - 2575-1077 (Electronic)
IS - 2575-1077 (Linking)
VI - 9
@@ -379,97 +925,97 @@ CI - (c) 2026 Romano et al.
FAU - Romano, Lisa El
AU - Romano LE
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Tsukagoshi, Setsuki
AU - Tsukagoshi S
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Davey-Osuch, Emily E
AU - Davey-Osuch EE
AUID- ORCID: 0000-0001-7204-5089
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Ajredini, Ramadan
AU - Ajredini R
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Manasi, Kamat
AU - Manasi K
AD - Southeast Center for Integrated Metabolomics, Clinical and Translational Science
- Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ Institute, University of Florida, Gainesville, FL, USA.
FAU - Ortiz, Tala Vr
AU - Ortiz TV
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Rijos, Eduardo
AU - Rijos E
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Bourgon, Nathan J
AU - Bourgon NJ
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Ames, S Elaine
AU - Ames SE
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Garrett, Timothy J
AU - Garrett TJ
AD - Southeast Center for Integrated Metabolomics, Clinical and Translational Science
- Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ Institute, University of Florida, Gainesville, FL, USA.
AD - Department of Pathology, Immunology and Laboratory Medicine, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Cleary, John D
AU - Cleary JD
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Wang, Eric T
AU - Wang ET
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
-AD - Genetics Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
-AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
+AD - Genetics Institute, University of Florida, Gainesville, FL, USA.
+AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
FAU - Ranum, Laura Pw
AU - Ranum LP
AUID- ORCID: 0000-0001-9808-9661
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA ranum@ufl.edu. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA ranum@ufl.edu.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
-AD - Genetics Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
-AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
+AD - Genetics Institute, University of Florida, Gainesville, FL, USA.
+AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
AD - Department of Neurology, College of Medicine, University of Florida, Gainesville,
- FL, USA. ROR: https://ror.org/02y3ad647
+ FL, USA.
AD - Norman Fixel Institute for Neurological Disease, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
LA - eng
+GR - R01 NS098819/NS/NINDS NIH HHS/United States
+GR - R37 NS040389/NS/NINDS NIH HHS/United States
+GR - R01 NS117910/NS/NINDS NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Intramural
+PT - Research Support, Non-U.S. Gov't
+PT - Research Support, U.S. Gov't, Non-P.H.S.
DEP - 20260302
PL - United States
TA - Life Sci Alliance
@@ -1519,7 +2065,7 @@ PMID- 41359433
OWN - NLM
STAT- MEDLINE
DCOM- 20260421
-LR - 20260421
+LR - 20260526
IS - 2167-9223 (Electronic)
IS - 2167-8421 (Linking)
VI - 27
@@ -1622,6 +2168,7 @@ AD - Department of Biomedical Science, Faculty of Medicine, Universiti Malaya,
Lumpur, Malaysia.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20251208
PL - England
TA - Amyotroph Lateral Scler Frontotemporal Degener
@@ -1901,7 +2448,7 @@ PMID- 41196070
OWN - NLM
STAT- MEDLINE
DCOM- 20260421
-LR - 20260421
+LR - 20260526
IS - 2167-9223 (Electronic)
IS - 2167-8421 (Linking)
VI - 27
@@ -2012,6 +2559,7 @@ AD - Neurogenetics Unit, 1st Department of Neurology, National and Kapodistrian
University of Athens, Eginitio Hospital, Athens, Greece.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20251106
PL - England
TA - Amyotroph Lateral Scler Frontotemporal Degener
@@ -3260,7 +3808,7 @@ PMID- 40684213
OWN - NLM
STAT- MEDLINE
DCOM- 20250719
-LR - 20250723
+LR - 20260515
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
VI - 13
@@ -3502,7 +4050,7 @@ PMID- 40556342
OWN - NLM
STAT- MEDLINE
DCOM- 20251017
-LR - 20251019
+LR - 20260529
IS - 2576-2095 (Electronic)
IS - 2096-5451 (Print)
IS - 2576-2095 (Linking)
@@ -4976,7 +5524,7 @@ PMID- 39571249
OWN - NLM
STAT- MEDLINE
DCOM- 20241212
-LR - 20241212
+LR - 20260506
IS - 1878-5883 (Electronic)
IS - 0022-510X (Linking)
VI - 467
@@ -5545,7 +6093,7 @@ SO - Biomedicines. 2024 Oct 19;12(10):2396. doi: 10.3390/biomedicines12102396.
PMID- 39420034
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20241020
+LR - 20260518
IS - 2373-8057 (Print)
IS - 2373-8057 (Electronic)
IS - 2373-8057 (Linking)
@@ -5978,7 +6526,7 @@ PMID- 39209824
OWN - NLM
STAT- MEDLINE
DCOM- 20240829
-LR - 20240901
+LR - 20260504
IS - 2041-1723 (Electronic)
IS - 2041-1723 (Linking)
VI - 15
@@ -6165,6 +6713,7 @@ AD - Department of Translational Neuroscience, UMC Utrecht Brain Center, Univer
r.j.pasterkamp@umcutrecht.nl.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20240829
PL - England
TA - Nat Commun
@@ -12420,7 +12969,7 @@ PMID- 35182509
OWN - NLM
STAT- MEDLINE
DCOM- 20220321
-LR - 20260127
+LR - 20260518
IS - 1474-4465 (Electronic)
IS - 1474-4422 (Print)
IS - 1474-4422 (Linking)
@@ -13377,7 +13926,7 @@ PMID- 34372915
OWN - NLM
STAT- MEDLINE
DCOM- 20220216
-LR - 20220216
+LR - 20260518
IS - 1756-994X (Electronic)
IS - 1756-994X (Linking)
VI - 13
@@ -16129,7 +16678,7 @@ SO - Neurology. 2020 Dec 15;95(24):e3394-e3405. doi: 10.1212/WNL.00000000000109
PMID- 32954321
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20250530
+LR - 20260518
IS - 2632-1297 (Electronic)
IS - 2632-1297 (Linking)
VI - 2
@@ -20807,7 +21356,7 @@ PMID- 29848387
OWN - NLM
STAT- MEDLINE
DCOM- 20190530
-LR - 20201109
+LR - 20260518
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
VI - 6
@@ -25336,7 +25885,7 @@ PMID- 26733254
OWN - NLM
STAT- MEDLINE
DCOM- 20161213
-LR - 20260127
+LR - 20260518
IS - 1558-1497 (Electronic)
IS - 0197-4580 (Print)
IS - 0197-4580 (Linking)
@@ -26472,7 +27021,7 @@ PMID- 26354989
OWN - NLM
STAT- MEDLINE
DCOM- 20160125
-LR - 20250827
+LR - 20260518
IS - 1526-632X (Electronic)
IS - 0028-3878 (Print)
IS - 0028-3878 (Linking)
@@ -27806,7 +28355,7 @@ PMID- 25527265
OWN - NLM
STAT- MEDLINE
DCOM- 20150504
-LR - 20151119
+LR - 20260518
IS - 1526-632X (Electronic)
IS - 0028-3878 (Linking)
VI - 84
@@ -28544,6 +29093,7 @@ AID - 10.1016/j.bandc.2014.07.007 [doi]
PST - ppublish
SO - Brain Cogn. 2014 Nov;91:28-34. doi: 10.1016/j.bandc.2014.07.007. Epub 2014 Sep 3.
+
PMID- 25189117
OWN - NLM
STAT- MEDLINE
@@ -29238,7 +29788,7 @@ PMID- 24972706
OWN - NLM
STAT- MEDLINE
DCOM- 20141106
-LR - 20250529
+LR - 20260518
IS - 1460-2156 (Electronic)
IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
@@ -29547,7 +30097,6 @@ AID - 10.1093/brain/awu174 [doi]
PST - ppublish
SO - Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26.
-
PMID- 24908169
OWN - NLM
STAT- MEDLINE
diff --git a/data/literature/ATXN3_batch_01.txt b/data/literature/ATXN3_batch_01.txt
index a3d6abd7..651bbdc8 100644
--- a/data/literature/ATXN3_batch_01.txt
+++ b/data/literature/ATXN3_batch_01.txt
@@ -1,4 +1,362 @@
+PMID- 42191105
+OWN - NLM
+STAT- Publisher
+LR - 20260530
+IS - 1873-7544 (Electronic)
+IS - 0306-4522 (Linking)
+VI - 609
+DP - 2026 May 25
+TI - White matter structural network alterations in spinocerebellar ataxia type 3: A
+ graph theory analysis.
+PG - 27-35
+LID - S0306-4522(26)00350-7 [pii]
+LID - 10.1016/j.neuroscience.2026.05.027 [doi]
+AB - Spinocerebellar ataxia type 3 (SCA3) is an inherited neurodegenerative disorder
+ characterized by progressive motor impairment and cerebellar atrophy. While
+ previous studies have reported white matter (WM) microstructural damage in SCA3,
+ the topological organization of WM structural networks and its relationship with
+ genetic load and clinical severity remain poorly understood. Here, we applied
+ graph theory to diffusion tensor imaging (DTI) data to investigate WM structural
+ network alterations in 42 SCA3 patients and 41 age- and sex-matched healthy
+ controls. We reconstructed WM structural networks and performed graph-theoretical
+ analysis to evaluate network segregation and integration patterns. Compared to
+ controls, SCA3 patients showed extensive microstructural damage in cerebral WM
+ tracts, predominantly affecting the cerebello-thalamo-cortical pathway. Network
+ topology was significantly disrupted, with reduced global efficiency (p < 0.001),
+ decreased local efficiency (p < 0.001), and increased characteristic path length
+ (p < 0.001). Node-level abnormalities were observed in the precentral gyrus,
+ cerebellum, hippocampus, and thalamus (p < 0.05, FDR corrected). Crucially, nodal
+ efficiency in vermis VI exhibited negative correlations with CAG repeat length
+ (r = -0.62, p < 0.001), disease severity (r = -0.58, p < 0.001), and motor
+ impairment scores (r = -0.65, p < 0.001). These results indicate that SCA3
+ involves a breakdown in both network segregation and integration. Nodal
+ efficiency in the vermis VI represents a promising neuroimaging biomarker that
+ bridges genetic load and motor decline, providing a potential tool for tracking
+ disease progression.
+CI - Copyright (c) 2026. Published by Elsevier Inc.
+FAU - Wang, Qiannan
+AU - Wang Q
+AD - Department of Medical Imaging, College of Biomedical Engineering, Army Medical
+ University (Third Military Medical University), Chongqing, China.
+FAU - Zhang, Jingna
+AU - Zhang J
+AD - Department of Medical Imaging, College of Biomedical Engineering, Army Medical
+ University (Third Military Medical University), Chongqing, China.
+FAU - Qiao, Liang
+AU - Qiao L
+AD - Department of Medical Imaging, College of Biomedical Engineering, Army Medical
+ University (Third Military Medical University), Chongqing, China.
+FAU - Wang, Li
+AU - Wang L
+AD - Department of Medical Imaging, College of Biomedical Engineering, Army Medical
+ University (Third Military Medical University), Chongqing, China.
+FAU - Sang, Linqiong
+AU - Sang L
+AD - Department of Medical Imaging, College of Biomedical Engineering, Army Medical
+ University (Third Military Medical University), Chongqing, China.
+FAU - Zhang, Ye
+AU - Zhang Y
+AD - Department of Medical Imaging, College of Biomedical Engineering, Army Medical
+ University (Third Military Medical University), Chongqing, China.
+FAU - Liao, Yalan
+AU - Liao Y
+AD - Department of Medical Imaging, College of Biomedical Engineering, Army Medical
+ University (Third Military Medical University), Chongqing, China.
+FAU - Liu, Jingjing
+AU - Liu J
+AD - Department of Medical Imaging, College of Biomedical Engineering, Army Medical
+ University (Third Military Medical University), Chongqing, China.
+FAU - Qiu, Mingguo
+AU - Qiu M
+AD - Department of Medical Imaging, College of Biomedical Engineering, Army Medical
+ University (Third Military Medical University), Chongqing, China.
+FAU - Wang, Bijia
+AU - Wang B
+AD - Department of Neurology, Southwest Hospital, Army Medical University (Third
+ Military Medical University), Chongqing, China.
+FAU - Liu, Chen
+AU - Liu C
+AD - 7T Magnetic Resonance Translational Medicine Research Center, Department of
+ Radiology, Southwest Hospital, Army Medical University (Third Military Medical
+ University), Chongqing, China. Electronic address: liuchen@aifmri.com.
+LA - eng
+PT - Journal Article
+DEP - 20260525
+PL - United States
+TA - Neuroscience
+JT - Neuroscience
+JID - 7605074
+SB - IM
+OTO - NOTNLM
+OT - Graph theory
+OT - Spinocerebellar ataxia type 3
+OT - Structural connectivity network
+COIS- Declaration of competing interest The authors declare that they have no known
+ competing financial interests or personal relationships that could have appeared
+ to influence the work reported in this paper.
+EDAT- 2026/05/27 00:30
+MHDA- 2026/05/27 00:30
+CRDT- 2026/05/26 19:37
+PHST- 2026/02/09 00:00 [received]
+PHST- 2026/05/11 00:00 [revised]
+PHST- 2026/05/25 00:00 [accepted]
+PHST- 2026/05/27 00:30 [pubmed]
+PHST- 2026/05/27 00:30 [medline]
+PHST- 2026/05/26 19:37 [entrez]
+AID - S0306-4522(26)00350-7 [pii]
+AID - 10.1016/j.neuroscience.2026.05.027 [doi]
+PST - aheadofprint
+SO - Neuroscience. 2026 May 25;609:27-35. doi: 10.1016/j.neuroscience.2026.05.027.
+
+PMID- 42105168
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260509
+LR - 20260512
+IS - 1473-4230 (Electronic)
+IS - 1473-4222 (Print)
+IS - 1473-4222 (Linking)
+VI - 25
+IP - 3
+DP - 2026 May 9
+TI - Cerebello-Brainstem Dominant Form of X-linked Adrenoleukodystrophy Without
+ Apparent Brain MRI Abnormalities at Disease Onset.
+LID - 10.1007/s12311-026-02018-x [doi]
+LID - 77
+AB - Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy (X-ALD) is a
+ rare adult-onset phenotype that typically presents with slowly progressive
+ spasticity and cerebellar ataxia. This phenotype can exhibit no apparent
+ parenchymal signal abnormalities on brain MRI, thereby mimicking spinocerebellar
+ ataxia. We encountered a 48-year-old Japanese man who developed slowly
+ progressive spasticity and cerebellar ataxia beginning at age 35. Brain MRI
+ performed 4 years later revealed only subtle cerebellar atrophy. Repeat-expansion
+ testing identified an intermediate-length ATXN3 allele with 49 CAG repeats, and
+ he received a provisional diagnosis of spinocerebellar ataxia type 3. Thirteen
+ years after onset, follow-up MRI revealed new bilateral T2 hyperintensities in
+ frontopontine fibers and cerebellar white matter. Markedly elevated
+ very-long-chain fatty acid levels in plasma and a pathogenic ABCD1 variant
+ confirmed the diagnosis of cerebello-brainstem dominant form of X-ALD. Detailed
+ assessment identified compensated adrenal insufficiency, and his mother displayed
+ mild neurologic symptoms, suggesting symptomatic carriage. This case highlights
+ the importance of careful evaluation for adrenal insufficiency and a detailed
+ family history assessment to detect subtle X-linked features in recognizing
+ cerebello-brainstem dominant form of X-ALD in patients with progressive ataxia.
+ It also suggests that longitudinal brain MRI can provide important diagnostic
+ clues in patients with undiagnosed progressive ataxia, as characteristic
+ demyelinating lesions along the frontopontine tract might emerge over time.
+ Furthermore, because intermediate alleles in polyglutamine diseases are
+ low-penetrance variants present in the general population, clinicians should
+ avoid premature diagnostic closure and maintain careful diagnostic follow-up when
+ encountering this finding to avoid missing treatable alternatives.
+CI - (c) 2026. The Author(s).
+FAU - Nakagawa, Yuki
+AU - Nakagawa Y
+AD - Department of Neurology, Graduate School of Medicine, Chiba University, 1-8-1
+ Inohana, Chuo-ku, Chiba, 260-8677, Japan.
+FAU - Sugiyama, Atsuhiko
+AU - Sugiyama A
+AUID- ORCID: 0000-0003-0705-9892
+AD - Department of Neurology, Graduate School of Medicine, Chiba University, 1-8-1
+ Inohana, Chuo-ku, Chiba, 260-8677, Japan. asugiyama@chiba-u.jp.
+FAU - Shibuya, Kazumoto
+AU - Shibuya K
+AD - Department of Neurology, Graduate School of Medicine, Chiba University, 1-8-1
+ Inohana, Chuo-ku, Chiba, 260-8677, Japan.
+FAU - Yokota, Hajime
+AU - Yokota H
+AD - Department of Diagnostic Radiology and Radiation Oncology, Graduate School of
+ Medicine, Chiba University, Chiba, Japan.
+FAU - Matsukawa, Takashi
+AU - Matsukawa T
+AD - Department of Neurology, Graduate School of Medicine, The University of Tokyo,
+ Tokyo, Japan.
+FAU - Ishiwata, Kazuki
+AU - Ishiwata K
+AD - Department of Endocrinology, Hematology and Gerontology, Graduate School of
+ Medicine, Chiba University, Chiba, Japan.
+FAU - Mori, Masahiro
+AU - Mori M
+AD - Department of Neurology, Graduate School of Medicine, Chiba University, 1-8-1
+ Inohana, Chuo-ku, Chiba, 260-8677, Japan.
+LA - eng
+PT - Case Reports
+PT - Journal Article
+DEP - 20260509
+PL - United States
+TA - Cerebellum
+JT - Cerebellum (London, England)
+JID - 101089443
+RN - 0 (ATP Binding Cassette Transporter, Subfamily D, Member 1)
+RN - 0 (ABCD1 protein, human)
+SB - IM
+MH - Humans
+MH - *Adrenoleukodystrophy/diagnostic imaging/genetics/pathology
+MH - Male
+MH - Magnetic Resonance Imaging
+MH - Middle Aged
+MH - *Cerebellum/diagnostic imaging/pathology
+MH - *Brain Stem/diagnostic imaging/pathology
+MH - ATP Binding Cassette Transporter, Subfamily D, Member 1/genetics
+MH - *Brain/diagnostic imaging
+PMC - PMC13157408
+OTO - NOTNLM
+OT - Adrenoleukodystrophy
+OT - Case Reports
+OT - Magnetic Resonance Imaging
+OT - Spinocerebellar Ataxias
+COIS- Declarations. Ethical approval: Approval for case reports is not required by the
+ Institutional Review Board of Chiba University Graduate School of Medicine. This
+ study followed the ethical guidelines of the Declaration of Helsinki. Consent to
+ participate: Written informed consent was obtained from the patient for this case
+ report. Consent to publish: Written informed consent was obtained from the
+ patient for the publication of this case report and the accompanying images.
+ Competing interests: The authors declare no competing interests.
+EDAT- 2026/05/10 05:15
+MHDA- 2026/05/10 05:16
+PMCR- 2026/05/09
+CRDT- 2026/05/09 11:16
+PHST- 2026/03/10 00:00 [received]
+PHST- 2026/04/28 00:00 [accepted]
+PHST- 2026/05/10 05:16 [medline]
+PHST- 2026/05/10 05:15 [pubmed]
+PHST- 2026/05/09 11:16 [entrez]
+PHST- 2026/05/09 00:00 [pmc-release]
+AID - 10.1007/s12311-026-02018-x [pii]
+AID - 2018 [pii]
+AID - 10.1007/s12311-026-02018-x [doi]
+PST - epublish
+SO - Cerebellum. 2026 May 9;25(3):77. doi: 10.1007/s12311-026-02018-x.
+
+PMID- 42096001
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260507
+LR - 20260510
+IS - 1473-4230 (Electronic)
+IS - 1473-4222 (Print)
+IS - 1473-4222 (Linking)
+VI - 25
+IP - 3
+DP - 2026 May 7
+TI - Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed
+ Cerebellar Ataxia - A Preliminary Study.
+LID - 10.1007/s12311-026-02003-4 [doi]
+LID - 73
+AB - Spinocerebellar ataxia type 27B (SCA27B), caused by an intronic GAA repeat
+ expansion in the FGF14 gene, has recently emerged as a major cause of late-onset
+ cerebellar ataxia (LOCA). Its prevalence and clinical profile in Central and
+ Eastern Europe remain largely unknown. To determine the frequency and phenotypic
+ characteristics of FGF14 GAA.TTC repeat expansions, a large cohort of Polish
+ patients with undiagnosed adult-onset cerebellar ataxia was investigated. We
+ retrospectively analyzed 701 patients (age of onset >/= 25 years) with adult-onset
+ cerebellar ataxia of unknown etiology, previously tested negative for SCA1, SCA2,
+ SCA3, SCA8, and RFC1 expansions. GAA.TTC repeat lengths were assessed using
+ long-range and repeat-primed PCR. Expansions >/= 250 repeats were classified as
+ pathogenic. Clinical and MRI data were evaluated where available. A control group
+ of 66 neurologically healthy individuals was also screened. Pathogenic FGF14
+ expansions (>/= 250 repeats) were identified in 4.4% (31/701) of patients,
+ including 23 with fully penetrant (>/= 300) and 8 with incompletely penetrant
+ (250-299) alleles. No pathogenic expansions were found in controls. The mean age
+ of onset was 49.8 years. Common symptoms included balance and gait disturbances,
+ cerebellar syndrome, and episodic features such as diplopia. Cerebellar atrophy
+ was present in 45% of patients with available MRI. No significant correlation
+ between repeat length and age of onset was observed. Our findings confirm that
+ FGF14 repeat expansions are an underrecognized cause of LOCA in Poland and
+ support their inclusion in standard genetic testing for adult-onset ataxias.
+ Further studies are warranted to better define penetrance and genotype-phenotype
+ correlations.
+CI - (c) 2026. The Author(s).
+FAU - Matlawska, Marta
+AU - Matlawska M
+AUID- ORCID: 0000-0003-4310-5091
+AD - Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 ,
+ 02-957, Warsaw, Poland. mmatlawska@ipin.edu.pl.
+FAU - Ziora-Jakutowicz, Karolina
+AU - Ziora-Jakutowicz K
+AD - Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 ,
+ 02-957, Warsaw, Poland.
+FAU - Dicaire, Marie-Josee
+AU - Dicaire MJ
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+FAU - Pera, Joanna
+AU - Pera J
+AD - Department of Neurology, Jagiellonian University Medical College, Krakow, Poland.
+FAU - Pellerin, David
+AU - Pellerin D
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
+ London and The National Hospital for Neurology and Neurosurgery, University
+ College London, London, United Kingdom.
+FAU - Brais, Bernard
+AU - Brais B
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+FAU - Iruzubieta, Pablo
+AU - Iruzubieta P
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+FAU - Elert-Dobkowska, Ewelina
+AU - Elert-Dobkowska E
+AD - Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 ,
+ 02-957, Warsaw, Poland.
+FAU - Sulek, Anna
+AU - Sulek A
+AD - Faculty of Medicine, Lazarski University, Warsaw, Poland.
+LA - eng
+PT - Journal Article
+DEP - 20260507
+PL - United States
+TA - Cerebellum
+JT - Cerebellum (London, England)
+JID - 101089443
+RN - 62031-54-3 (Fibroblast Growth Factors)
+RN - 0 (fibroblast growth factor 14)
+SB - IM
+MH - Humans
+MH - Male
+MH - Female
+MH - Middle Aged
+MH - *Fibroblast Growth Factors/genetics
+MH - Poland/epidemiology
+MH - Adult
+MH - *Cerebellar Ataxia/genetics/diagnosis/epidemiology
+MH - Aged
+MH - Retrospective Studies
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Age of Onset
+MH - Magnetic Resonance Imaging
+PMC - PMC13152904
+OTO - NOTNLM
+OT - FGF14 expansion
+OT - Neurodegenerative disorders
+OT - SCA27B
+OT - Spinocerebellar ataxia
+COIS- Declarations. Human Ethics and Consent to Participate: The study was conducted in
+ accordance with the Declaration of Helsinki and its subsequent amendments. The
+ protocol was approved by the Local Bioethics Committee at the Institute of
+ Psychiatry and Neurology in Warsaw (resolution no. 30/2021 November 17, 2021).
+ Consents to Participate: Informed consent was obtained from all individual
+ participants included in the study. Competing Interests: The authors declare no
+ competing interests.
+EDAT- 2026/05/07 12:36
+MHDA- 2026/05/07 12:37
+PMCR- 2026/05/07
+CRDT- 2026/05/07 11:08
+PHST- 2025/09/07 00:00 [received]
+PHST- 2026/04/09 00:00 [accepted]
+PHST- 2026/05/07 12:37 [medline]
+PHST- 2026/05/07 12:36 [pubmed]
+PHST- 2026/05/07 11:08 [entrez]
+PHST- 2026/05/07 00:00 [pmc-release]
+AID - 10.1007/s12311-026-02003-4 [pii]
+AID - 2003 [pii]
+AID - 10.1007/s12311-026-02003-4 [doi]
+PST - epublish
+SO - Cerebellum. 2026 May 7;25(3):73. doi: 10.1007/s12311-026-02003-4.
+
PMID- 41854058
OWN - NLM
STAT- MEDLINE
@@ -364,7 +722,7 @@ PMID- 41818480
OWN - NLM
STAT- MEDLINE
DCOM- 20260324
-LR - 20260326
+LR - 20260505
IS - 1759-6653 (Electronic)
IS - 1759-6653 (Linking)
VI - 18
@@ -457,6 +815,7 @@ AD - Institute of Molecular Pathology and Immunology of the University of Porto
(IPATIMUP), University of Porto, Porto, Portugal.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
PL - England
TA - Genome Biol Evol
JT - Genome biology and evolution
@@ -499,7 +858,7 @@ PMID- 41771688
OWN - NLM
STAT- MEDLINE
DCOM- 20260308
-LR - 20260308
+LR - 20260531
IS - 2575-1077 (Electronic)
IS - 2575-1077 (Linking)
VI - 9
@@ -529,97 +888,97 @@ CI - (c) 2026 Romano et al.
FAU - Romano, Lisa El
AU - Romano LE
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Tsukagoshi, Setsuki
AU - Tsukagoshi S
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Davey-Osuch, Emily E
AU - Davey-Osuch EE
AUID- ORCID: 0000-0001-7204-5089
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Ajredini, Ramadan
AU - Ajredini R
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Manasi, Kamat
AU - Manasi K
AD - Southeast Center for Integrated Metabolomics, Clinical and Translational Science
- Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ Institute, University of Florida, Gainesville, FL, USA.
FAU - Ortiz, Tala Vr
AU - Ortiz TV
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Rijos, Eduardo
AU - Rijos E
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Bourgon, Nathan J
AU - Bourgon NJ
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Ames, S Elaine
AU - Ames SE
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Garrett, Timothy J
AU - Garrett TJ
AD - Southeast Center for Integrated Metabolomics, Clinical and Translational Science
- Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ Institute, University of Florida, Gainesville, FL, USA.
AD - Department of Pathology, Immunology and Laboratory Medicine, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Cleary, John D
AU - Cleary JD
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Wang, Eric T
AU - Wang ET
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
-AD - Genetics Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
-AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
+AD - Genetics Institute, University of Florida, Gainesville, FL, USA.
+AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
FAU - Ranum, Laura Pw
AU - Ranum LP
AUID- ORCID: 0000-0001-9808-9661
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA ranum@ufl.edu. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA ranum@ufl.edu.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
-AD - Genetics Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
-AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
+AD - Genetics Institute, University of Florida, Gainesville, FL, USA.
+AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
AD - Department of Neurology, College of Medicine, University of Florida, Gainesville,
- FL, USA. ROR: https://ror.org/02y3ad647
+ FL, USA.
AD - Norman Fixel Institute for Neurological Disease, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
LA - eng
+GR - R01 NS098819/NS/NINDS NIH HHS/United States
+GR - R37 NS040389/NS/NINDS NIH HHS/United States
+GR - R01 NS117910/NS/NINDS NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Intramural
+PT - Research Support, Non-U.S. Gov't
+PT - Research Support, U.S. Gov't, Non-P.H.S.
DEP - 20260302
PL - United States
TA - Life Sci Alliance
@@ -1713,51 +2072,57 @@ SO - Parkinsonism Relat Disord. 2025 Dec;141:108075. doi:
PMID- 41058593
OWN - NLM
-STAT- Publisher
-LR - 20251014
+STAT- MEDLINE
+DCOM- 20260505
+LR - 20260507
IS - 1460-2156 (Electronic)
+IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
-DP - 2025 Oct 8
+VI - 149
+IP - 5
+DP - 2026 May 5
TI - Large-scale genetic characterization of Parkinson's disease in the African and
African admixed populations.
-LID - awaf379 [pii]
+PG - 1537-1553
LID - 10.1093/brain/awaf379 [doi]
-AB - Elucidating the genetic contributions to Parkinson's disease (PD) etiology across
+AB - Elucidating the genetic contributions to Parkinson's disease aetiology across
diverse ancestries is a critical priority for the development of targeted
therapies in a global context. We conducted the largest sequencing
characterization of potentially disease-causing, protein-altering and splicing
- mutations in 710 cases and 11,827 controls from genetically predicted African or
+ mutations in 710 cases and 11 827 controls from genetically predicted African or
African admixed ancestries. We explored copy number variants (CNVs) and runs of
- homozygosity (ROHs) in prioritized early onset and familial cases. Our study
- identified rare GBA1 coding variants to be the most frequent mutations among PD
- patients, with a frequency of 4% in our case cohort. Out of the 18 GBA1 variants
- identified, ten were previously classified as pathogenic or likely pathogenic,
- four were novel, and four were reported as of uncertain clinical significance.
- The most common known disease-associated GBA1 variants in the Ashkenazi Jewish
- and European populations, p.Asn409Ser, p.Leu483Pro, p.Thr408Met, and p.Glu365Lys,
- were not identified among the screened PD cases of African and African admixed
- ancestry. Similarly, the European and Asian LRRK2 disease-causing mutational
- spectrum, including LRRK2 p.Gly2019Ser and p.Gly2385Arg genetic risk factors, did
- not appear to play a major role in PD etiology among West African-ancestry
- populations. However, we found three heterozygous novel missense LRRK2 variants
- of uncertain significance overrepresented in cases, two of which-p.Glu268Ala and
- p.Arg1538Cys-had a higher prevalence in the African ancestry population reference
- datasets. Structural variant analyses revealed the presence of PRKN CNVs with a
- frequency of 0.7% in African and African admixed cases, with 66% of CNVs detected
- being compound heterozygous or homozygous in early-onset cases, providing further
- insights into the genetic underpinnings in early-onset juvenile PD in these
- populations. Short tandem repeat analysis also identified ATXN3 repeat expansions
- within the pathogenic range (CAGn > 45) in three PD patients of African ancestry.
- Novel genetic variation overrepresented in cases versus controls among screened
+ homozygosity in prioritized early onset and familial cases. Our study identified
+ rare GBA1 coding variants to be the most frequent mutations among patients with
+ Parkinson's disease, with a frequency of 4% in our case cohort. Of the 18 GBA1
+ variants identified, 10 were previously classified as pathogenic or likely
+ pathogenic, four were novel and four were reported as of uncertain clinical
+ significance. The most common known disease-associated GBA1 variants in the
+ Ashkenazi Jewish and European populations, p.Asn409Ser, p.Leu483Pro, p.Thr408Met
+ and p.Glu365Lys, were not identified among the screened Parkinson's disease cases
+ of African and African admixed ancestry. Similarly, the European and Asian LRRK2
+ disease-causing mutational spectrum, including LRRK2 p.Gly2019Ser and
+ p.Gly2385Arg genetic risk factors, did not appear to play a major role in
+ Parkinson's disease aetiology among West African ancestry populations. However,
+ we found three heterozygous novel missense LRRK2 variants of uncertain
+ significance, with two (p.Glu268Ala and p.Arg1538Cys) displaying higher
+ frequencies in the African ancestry population reference datasets. Structural
+ variant analyses revealed the presence of PRKN CNVs with a frequency of 0.7% in
+ African and African admixed cases, with 66% of CNVs detected being compound
+ heterozygous or homozygous in early-onset cases, providing further insights into
+ the genetic underpinnings in early-onset juvenile Parkinson's disease in these
+ populations. Short tandem repeat analysis also identified ATXN3 CAG repeat
+ expansions within the pathogenic range (CAGn > 45) in three patients with
+ Parkinson's disease of African ancestry. Novel genetic variation among screened
genes warrants further replication and functional prioritization to unravel their
- pathogenic potential. Here, we created the most comprehensive genetic catalog of
- both known and novel coding and splicing variants potentially linked to PD
- etiology in an underserved population and further conducted global and local
- ancestry analyses to further explore population-specific effects. Our study has
- the potential to guide the development of targeted therapies in the emerging era
- of precision medicine. By expanding genetics research to involve underrepresented
- populations, we hope that future PD treatments are not only effective but also
- inclusive, addressing the needs of diverse ancestral groups.
+ pathogenic potential. Here, we created the most comprehensive genetic catalogue
+ of both known and novel coding and splicing variants potentially linked to
+ Parkinson's disease aetiology in an underserved population and further conducted
+ global and local ancestry analyses to further explore population-specific
+ effects. Our study has the potential to guide the development of targeted
+ therapies in the emerging era of precision medicine. By expanding genetics
+ research to involve underrepresented populations, we hope that future Parkinson's
+ disease treatments are not only effective but also inclusive, addressing the
+ needs of diverse ancestral groups.
CI - (c) The Author(s) 2025. Published by Oxford University Press on behalf of the
Guarantors of Brain.
FAU - Akcimen, Fulya
@@ -1782,36 +2147,38 @@ AU - Step K
AUID- ORCID: 0000-0002-4054-7030
AD - Department of Biomedical Sciences, Division of Molecular Biology and Human
Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape
- Town, South Africa.
+ Town 7505, South Africa.
AD - South African Medical Research Council Centre for Tuberculosis Research,
- Stellenbosch University, Cape Town, South Africa.
+ Stellenbosch University, Cape Town 7505, South Africa.
FAU - Waldo, Emily
AU - Waldo E
AD - Genomic Medicine, Lerner Research Institute, Cleveland Clinic Foundation,
- Cleveland, OH 44106, United States.
+ Cleveland, OH 44106, USA.
FAU - Koretsky, Mathew J
AU - Koretsky MJ
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Saffie-Awad, Paula
AU - Saffie-Awad P
AD - Programa de Pos-Graduacao em Ciencias Medicas, Universidade Federal do Rio Grande
- do Sul, Porto Alegre, Brazil.
-AD - Clinica Santa Maria, Santiago, Chile.
+ do Sul, Porto Alegre 90035, Brazil.
+AD - Clinica Santa Maria, Santiago 7520378, Chile.
FAU - Achoru, Charles
AU - Achoru C
-AD - Jos University Teaching Hospital, Jos, Plateau State, Nigeria.
+AD - Jos University Teaching Hospital, Jos, Plateau State 930105, Nigeria.
FAU - Taiwo, Funmilola
AU - Taiwo F
-AD - University College Hospital, Ibadan, Oyo State, Nigeria.
+AD - University College Hospital, Ibadan, Oyo State 200005, Nigeria.
FAU - Ozomma, Simon
AU - Ozomma S
-AD - University of Calabar Teaching Hospital, Calabar, Cross River State, Nigeria.
+AD - Department of Internal Medicine, University of Calabar Teaching Hospital,
+ Calabar, Cross River State 540281, Nigeria.
FAU - Onwuegbuzie, Gerald
AU - Onwuegbuzie G
-AD - University of Abuja, Gwagwalada, Federal Capital Territory, Nigeria.
+AD - Department of Internal Medicine, University of Abuja, Gwagwalada, Federal Capital
+ Territory 902101, Nigeria.
FAU - Khani, Marzieh
AU - Khani M
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
@@ -1826,18 +2193,22 @@ AD - Center for Alzheimer's and Related Dementias, National Institute on Aging
Health, Bethesda, MD 20892, USA.
FAU - Owolabi, Lukman
AU - Owolabi L
-AD - Bayero University, Kano, Kano State, Nigeria.
+AD - Department of Medicine, Bayero University, Kano, Kano State 700001, Nigeria.
FAU - Okereke, Chiamaka
AU - Okereke C
-AD - University of Nigeria Teaching Hospital, Ituku-Ozalla, Enugu State, Nigeria.
+AD - Department of Medicine, University of Nigeria Teaching Hospital, Ituku-Ozalla,
+ Enugu State 402109, Nigeria.
FAU - Oshinaike, Olajumoke
AU - Oshinaike O
-AD - Lagos State University College Of Medicine, Ikeja, Lagos State, Nigeria.
+AD - Department of Medicine, Lagos State University College of Medicine, Ikeja, Lagos
+ State P.M.B. 0001, Nigeria.
FAU - Iwuozo, Emmanuel
AU - Iwuozo E
-AD - Benue State University, Makurdi, Benue State, Nigeria.
-FAU - Can Akerman, Suleyman
-AU - Can Akerman S
+AD - Department of Internal Medicine, Benue State University, Makurdi, Benue State
+ 970001, Nigeria.
+FAU - Akerman, Suleyman Can
+AU - Akerman SC
+AUID- ORCID: 0000-0001-8424-1917
AD - Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore,
MD 21205, USA.
AD - Department of Neurology, Johns Hopkins University School of Medicine, Baltimore,
@@ -1848,10 +2219,12 @@ AD - Laboratory of Neurogenetics, National Institute on Aging, National Institu
Health, Bethesda, MD 20892, USA.
FAU - Oyakhire, Shyngle
AU - Oyakhire S
-AD - National Hospital Abuja, Federal Capital Territory, Nigeria.
+AD - Department of Internal Medicine, National Hospital Abuja, Abuja, Federal Capital
+ Territory 900103, Nigeria.
FAU - Osemwegie, Nosakhare
AU - Osemwegie N
-AD - University of Port Harcourt Teaching Hospital, Rivers State, Nigeria.
+AD - Department of Medicine, University of Port Harcourt Teaching Hospital, Port
+ Harcourt, Rivers State 500004, Nigeria.
FAU - Daida, Kensuke
AU - Daida K
AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
@@ -1859,18 +2232,21 @@ AD - Laboratory of Neurogenetics, National Institute on Aging, National Institu
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - Department of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
+AD - Department of Neurology, Faculty of Medicine, Juntendo University, Tokyo
+ 113-8421, Japan.
FAU - Abubakar, Sani
AU - Abubakar S
-AD - Ahmadu Bello University, Zaria, Kaduna State, Nigeria.
+AD - Department of Medicine, Ahmadu Bello University, Zaria, Kaduna State 800001,
+ Nigeria.
FAU - Olusanya, Adedunni
AU - Olusanya A
-AD - College of Medicine University of Lagos, Idi-araba, Lagos State, Nigeria.
-AD - R-Jolad Hospital, Gbagada, Lagos, Nigeria.
+AD - Department of Pharmacology, Therapeutics and Toxicology, College of Medicine
+ University of Lagos, Idi-araba, Lagos State P.M.B 12003, Nigeria.
+AD - R-Jolad Hospital, Gbagada, Lagos 100254, Nigeria.
FAU - Isayan, Mariam
AU - Isayan M
-AD - Department of Neurology and Neurosurgery, National Institute of Health, Yerevan,
- Armenia.
+AD - Department of Neurology and Neurosurgery, National Institute of Health, Yerevan
+ 0051, Armenia.
FAU - Alvarez, Christiane
AU - Alvarez C
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
@@ -1883,158 +2259,178 @@ AD - Center for Alzheimer's and Related Dementias, National Institute on Aging
Health, Bethesda, MD 20892, USA.
FAU - Ogunmodede, Adebimpe
AU - Ogunmodede A
-AD - Federal Medical Center, Owo, Ondo State, Nigeria.
+AD - Neurology Unit, Department of Medicine, Federal Medical Center, Owo, Ondo State
+ 341101, Nigeria.
FAU - Samuel, Sarah
AU - Samuel S
-AD - University of Maiduguri Teaching Hospital, Maiduguri, Borno State, Nigeria.
+AD - University of Maiduguri Teaching Hospital, Maiduguri, Borno State 600230,
+ Nigeria.
FAU - Makarious, Mary B
AU - Makarious MB
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Sa'ad, Fadimatu
AU - Sa'ad F
-AD - Federal Teaching Hospital, Gombe, Gombe State, Nigeria.
+AD - Federal Teaching Hospital, Gombe, Gombe State 760253, Nigeria.
FAU - Olanigan, Rashidat
AU - Olanigan R
-AD - Lagos State University Teaching Hospital, Ikeja, Lagos State, Nigeria.
+AD - Neurology Unit, Department of Medicine, Lagos State University Teaching Hospital,
+ Ikeja, Lagos State 101233, Nigeria.
FAU - Levine, Kristin
AU - Levine K
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Ogbimi, Ewere Marie
AU - Ogbimi EM
-AD - Delta State University Abraka, Delta State, Nigeria.
+AD - Department of Medicine, Faculty of Clinical Medicine, Delta State University,
+ Abraka, Delta State 330105, Nigeria.
FAU - Vitale, Dan
AU - Vitale D
AUID- ORCID: 0000-0002-0637-3671
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Odiase, Francis
AU - Odiase F
-AD - University of Benin, Benin City, Edo State, Nigeria.
+AD - Department of Medicine, College of Medical Sciences, University of Benin, Benin
+ City, Edo State 300242, Nigeria.
FAU - Ojini, Francis
AU - Ojini F
-AD - Ahmadu Bello University, Zaria, Kaduna State, Nigeria.
-AD - Lagos University Teaching Hospital, Idi-araba, Lagos State, Nigeria.
+AD - Department of Medicine, Ahmadu Bello University, Zaria, Kaduna State 800001,
+ Nigeria.
+AD - Department of Medicine, Neurology Unit, Lagos University Teaching Hospital,
+ Idi-araba, Lagos State 102215, Nigeria.
FAU - Odeniyi, Olanike
AU - Odeniyi O
-AD - General Hospital, Lagos Island, Lagos State, Nigeria.
+AD - General Hospital, Lagos Island, Lagos State 102273, Nigeria.
FAU - Fang, Zih-Hua
AU - Fang ZH
-AD - German Center for Neurodegenerative Diseases, DZNE, Tubingen, Germany.
+AD - German Center for Neurodegenerative Diseases, DZNE, Tubingen 72076, Germany.
FAU - Obianozie, Nkechi
AU - Obianozie N
-AD - University of Abuja Teaching Hospital, Gwagwalada, Federal Capital Territory,
- Nigeria.
+AD - University of Abuja Teaching Hospital, Gwagwalada, Federal Capital Territory
+ 902101, Nigeria.
FAU - Hall, Deborah A
AU - Hall DA
AD - Department of Neurological Sciences, Rush University Medical Center, Chicago, IL
60612, USA.
FAU - Nwazor, Ernest
AU - Nwazor E
-AD - Rivers State University Teaching Hospital, Port Harcourt, Rivers State, Nigeria.
+AD - Department of Medicine, Rivers State University Teaching Hospital, Port Harcourt,
+ Rivers State 500101, Nigeria.
FAU - Xie, Tao
AU - Xie T
AD - University of Chicago Medicine, Department of Neurology, Chicago, IL 60637, USA.
FAU - Nwaokorie, Francesca
AU - Nwaokorie F
-AD - College of Medicine University of Lagos, Idi-araba, Lagos State, Nigeria.
+AD - Department of Pharmacology, Therapeutics and Toxicology, College of Medicine
+ University of Lagos, Idi-araba, Lagos State P.M.B 12003, Nigeria.
FAU - Padmanaban, Mahesh
AU - Padmanaban M
AD - University of Chicago Medicine, Department of Neurology, Chicago, IL 60637, USA.
FAU - Nwani, Paul
AU - Nwani P
-AD - Nnamdi Azikiwe University Teaching Hospital, Nnewi, Anambra State, Nigeria.
+AD - Internal Medicine, Faculty of Medicine, Nnamdi Azikiwe University Teaching
+ Hospital, Nnewi, Anambra State 435101, Nigeria.
FAU - Shamim, Ejaz A
AU - Shamim EA
-AD - National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA.
-AD - Mid-Atlantic Permanente Medical Group, Department of Neurology, Largo, MD 20774,
+AD - Human Motor Control Section, National Institute of Neurological Disorders and
+ Stroke, Bethesda, MD 20892, USA.
+AD - Department of Neurology, Mid-Atlantic Permanente Medical Group, Largo, MD 20774,
USA.
-AD - Kaiser Permanente, MidAtlantic Permanente Research Institute, Washington, DC
+AD - Kaiser Permanente, Mid-Atlantic Permanente Research Institute, Washington, DC
20002, USA.
FAU - Nnama, Alero
AU - Nnama A
-AD - University of Port Harcourt Teaching Hospital, Rivers State, Nigeria.
+AD - Department of Medicine, University of Port Harcourt Teaching Hospital, Port
+ Harcourt, Rivers State 500004, Nigeria.
FAU - Standaert, David
AU - Standaert D
AUID- ORCID: 0000-0003-2921-8348
-AD - University of Alabama at Birmingham, Department of Neurology, Birmingham, AL
+AD - Department of Neurology, University of Alabama at Birmingham, Birmingham, AL
35294, USA.
FAU - Komolafe, Morenikeji
AU - Komolafe M
-AD - Obafemi Awolowo University, Ile-Ife, Osun State, Nigeria.
+AD - Department of Medicine, Obafemi Awolowo University, Ile-Ife, Osun State 220282,
+ Nigeria.
FAU - Dean, Marissa
AU - Dean M
-AD - University of Alabama at Birmingham, Department of Neurology, Birmingham, AL
+AD - Department of Neurology, University of Alabama at Birmingham, Birmingham, AL
35294, USA.
FAU - Osaigbovo, Godwin
AU - Osaigbovo G
-AD - Jos University Teaching Hospital, Jos, Plateau State, Nigeria.
+AD - Jos University Teaching Hospital, Jos, Plateau State 930105, Nigeria.
FAU - Disbrow, Elizabeth
AU - Disbrow E
AD - Department of Neurology, LSU Health Shreveport, LSU Health Shreveport Center for
Brain Health, Shreveport, LA 71103, USA.
FAU - Ishola, Ismaila
AU - Ishola I
-AD - University of Benin, Benin City, Edo State, Nigeria.
+AD - Department of Medicine, College of Medical Sciences, University of Benin, Benin
+ City, Edo State 300242, Nigeria.
FAU - Rawls, Ashley
AU - Rawls A
-AD - University of Florida Norman Fixel Institute for Neurological Diseases, Neurology
- Movement Disorders, Gainesville, FL 32608, USA.
+AD - Department of Neurology, University of Florida College of Medicine, Gainesville,
+ Florida 32611, USA.
FAU - Imarhiagbe, Frank
AU - Imarhiagbe F
-AD - Delta State University Abraka, Delta State, Nigeria.
+AD - Department of Medicine, Faculty of Clinical Medicine, Delta State University,
+ Abraka, Delta State 330105, Nigeria.
FAU - Chandra, Shivika
AU - Chandra S
-AD - The University of Texas Health Science Center at Houston, Houston, TX 20036, USA.
+AD - Department of Neurology, The University of Texas Health Science Center at
+ Houston, Houston, TX 20036, USA.
FAU - Erameh, Cyril
AU - Erameh C
-AD - Irrua Specialist Teaching Hospital, Irrua, Edo State, Nigeria.
+AD - Department of Medicine, Irrua Specialist Teaching Hospital, Irrua, Edo State
+ 312107, Nigeria.
FAU - Hinson, Vanessa
AU - Hinson V
-AD - Medical University of South Carolina, Charleston, SC 29425, USA.
+AD - Department of Neurology, Medical University of South Carolina, Charleston, SC
+ 29425, USA.
FAU - Louie, Naomi
AU - Louie N
-AD - Michael J Fox Foundation for Parkinson's Research, Department of Clinical
+AD - Department of Clinical Research, Michael J Fox Foundation for Parkinson's
Research, New York, NY 10163, USA.
FAU - Idowu, Ahmed
AU - Idowu A
-AD - Obafemi Awolowo University Teaching Hospitals Complex, Ile-Ife, Osun State,
- Nigeria.
+AD - Department of Medicine, Obafemi Awolowo University Teaching Hospitals Complex,
+ Ile-Ife, Osun State 220282, Nigeria.
FAU - Solle, J
AU - Solle J
-AD - Michael J Fox Foundation for Parkinson's Research, Department of Clinical
+AD - Department of Clinical Research, Michael J Fox Foundation for Parkinson's
Research, New York, NY 10163, USA.
FAU - Norris, Scott A
AU - Norris SA
AUID- ORCID: 0000-0002-3835-0976
-AD - Washington University in St Louis, St Louis, MO 63130, USA.
+AD - Department of Neurology, Washington University in St Louis, St Louis, MO 63130,
+ USA.
FAU - Ibrahim, Abdullahi
AU - Ibrahim A
-AD - Federal University of Health Sciences Teaching Hospital, Azare, Bauchi State,
- Nigeria.
+AD - Federal University of Health Sciences Teaching Hospital, Azare, Bauchi State
+ 751102, Nigeria.
FAU - Kilbane, Camilla
AU - Kilbane C
-AD - University Hospital in Cleveland Medical Center/Case Western Reserve University
- (UH), OH 44106, USA.
+AD - University Hospital in Cleveland Medical Center, Case Western Reserve University
+ (UH), Cleveland, OH 44106, USA.
FAU - Sukumar, Gauthaman
AU - Sukumar G
AD - Department of Anatomy, Physiology and Genetics, School of Medicine, Uniformed
Services, Bethesda, MD 20814, USA.
-AD - University of the Health Sciences, 4301 Jones Bridge Rd, Bethesda, MD, 20814,
- USA.
+AD - Center for Military Precision Health, Uniformed Services University of the Health
+ Sciences, Bethesda, MD 20814, USA.
FAU - Shulman, Lisa M
AU - Shulman LM
-AD - University of Maryland, Baltimore, MD 21201, USA.
+AD - Department of Neurology, University of Maryland, Baltimore, MD 21201, USA.
FAU - Ezuduemoih, Daniel
AU - Ezuduemoih D
-AD - Lagos University Teaching Hospital, Idi-araba, Lagos State, Nigeria.
+AD - Department of Medicine, Neurology Unit, Lagos University Teaching Hospital,
+ Idi-araba, Lagos State 102215, Nigeria.
FAU - Staisch, Julia
AU - Staisch J
AD - Ochsner Clinic Foundation, New Orleans, LA 70124, USA.
@@ -2049,13 +2445,16 @@ AD - The American Genome Center, Collaborative Health Initiative Research Progr
Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.
FAU - Foster, Erin R
AU - Foster ER
-AD - Washington University in St Louis, St Louis, MO 63130, USA.
+AD - Department of Neurology, Washington University in St Louis, St Louis, MO 63130,
+ USA.
FAU - Bello, Abiodun
AU - Bello A
-AD - University of Ilorin Teaching Hospital, Ilorin, Kwara State, Nigeria.
+AD - Division of Neurology, Department of Medicine, University of Ilorin Teaching
+ Hospital, Ilorin, Kwara State 234031, Nigeria.
FAU - Ameri, Andrew
AU - Ameri A
-AD - Medical University of South Carolina, Charleston, SC 29425, USA.
+AD - Department of Neurology, Medical University of South Carolina, Charleston, SC
+ 29425, USA.
FAU - Real, Raquel
AU - Real R
AUID- ORCID: 0000-0001-8117-742X
@@ -2064,29 +2463,33 @@ AD - Department of Clinical and Movement Neurosciences, UCL Queen Square Instit
AD - UCL Movement Disorders Centre, University College London, London WC1N 3BG, UK.
FAU - Ikwenu, Erica
AU - Ikwenu E
-AD - Lagos University Teaching Hospital, Idi-araba, Lagos State, Nigeria.
+AD - Department of Medicine, Neurology Unit, Lagos University Teaching Hospital,
+ Idi-araba, Lagos State 102215, Nigeria.
FAU - Morris, Huw R
AU - Morris HR
AUID- ORCID: 0000-0002-5473-3774
AD - Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of
Neurology, London WC1N 3BG, UK.
-AD - National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.
-AD - Department of Neurology, Royal Free Hospital, London,NW3 2QG, UK.
+AD - National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
+AD - Department of Neurology, Royal Free Hospital, London NW3 2QG, UK.
FAU - Anyanwu, Roosevelt
AU - Anyanwu R
-AD - College of Medicine University of Lagos, Idi-araba, Lagos State, Nigeria.
+AD - Department of Pharmacology, Therapeutics and Toxicology, College of Medicine
+ University of Lagos, Idi-araba, Lagos State P.M.B 12003, Nigeria.
FAU - Furr Stimming, Erin
AU - Furr Stimming E
-AD - The University of Texas Health Science Center at Houston, Houston, TX 20036, USA.
+AD - Department of Neurology, The University of Texas Health Science Center at
+ Houston, Houston, TX 20036, USA.
FAU - Billingsley, Kimberley
AU - Billingsley K
-AUID- ORCID: 0000-0002-2623-5997
+AUID- ORCID: 0000-0002-8003-4029
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
FAU - Alaofin, Wemimo
AU - Alaofin W
-AD - University of Ilorin, Ilorin, Kwara State, Nigeria.
+AD - Department of Medicine, University of Ilorin, Ilorin, Kwara State 240001,
+ Nigeria.
FAU - Alvarez Jerez, Pilar
AU - Alvarez Jerez P
AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
@@ -2095,8 +2498,10 @@ AD - Department of Clinical and Movement Neurosciences, UCL Queen Square Instit
Neurology, London WC1N 3BG, UK.
FAU - Agabi, Osigwe
AU - Agabi O
-AD - College of Medicine University of Lagos, Idi-araba, Lagos State, Nigeria.
-AD - Lagos University Teaching Hospital, Idi-araba, Lagos State, Nigeria.
+AD - Department of Pharmacology, Therapeutics and Toxicology, College of Medicine
+ University of Lagos, Idi-araba, Lagos State P.M.B 12003, Nigeria.
+AD - Department of Medicine, Neurology Unit, Lagos University Teaching Hospital,
+ Idi-araba, Lagos State 102215, Nigeria.
FAU - Hernandez, Dena G
AU - Hernandez DG
AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
@@ -2104,8 +2509,8 @@ AD - Laboratory of Neurogenetics, National Institute on Aging, National Institu
FAU - Akinyemi, Rufus
AU - Akinyemi R
AD - Neuroscience and Ageing Research Unit, Institute for Advanced Medical Research
- and Training, College of Medicine, University of Ibadan, Ibadan, Oyo State,
- Nigeria.
+ and Training, College of Medicine, University of Ibadan, Ibadan, 200212 Oyo
+ State, Nigeria.
FAU - Arepalli, Sampath
AU - Arepalli S
AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
@@ -2117,22 +2522,25 @@ AD - Center for Alzheimer's and Related Dementias, National Institute on Aging
Health, Bethesda, MD 20892, USA.
FAU - Owolabi, Raymond
AU - Owolabi R
-AD - Federal Medical Center, Owo, Ondo State, Nigeria.
+AD - Neurology Unit, Department of Medicine, Federal Medical Center, Owo, Ondo State
+ 341101, Nigeria.
FAU - Nyandaiti, Yakub
AU - Nyandaiti Y
-AD - University of Maiduguri Teaching Hospital, Maiduguri, Borno State, Nigeria.
+AD - University of Maiduguri Teaching Hospital, Maiduguri, Borno State 600230,
+ Nigeria.
FAU - Leonard, Hampton L
AU - Leonard HL
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Wahab, Kolawole
AU - Wahab K
-AD - University of Ilorin, Ilorin, Kwara State, Nigeria.
+AD - Department of Medicine, University of Ilorin, Ilorin, Kwara State 240001,
+ Nigeria.
FAU - Abiodun, Oladunni
AU - Abiodun O
-AD - General Hospital, Isolo, Lagos State, Nigeria.
+AD - General Hospital, Isolo, Lagos State 100263, Nigeria.
FAU - Hernandez, Carlos F
AU - Hernandez CF
AUID- ORCID: 0000-0002-6412-3777
@@ -2140,60 +2548,62 @@ AD - Universidad del Desarrollo, Centro de Genetica y Genomica, Facultad de Med
Clinica Alemana, Santiago 7610658, Chile.
FAU - Abdulai, Fatima
AU - Abdulai F
-AD - University of Abuja Teaching Hospital, Gwagwalada, Federal Capital Territory,
- Nigeria.
+AD - University of Abuja Teaching Hospital, Gwagwalada, Federal Capital Territory
+ 902101, Nigeria.
FAU - Iwaki, Hirotaka
AU - Iwaki H
AUID- ORCID: 0000-0002-8982-7885
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Bardien, Soraya
AU - Bardien S
AD - Department of Biomedical Sciences, Division of Molecular Biology and Human
Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape
- Town, South Africa.
+ Town 7505, South Africa.
FAU - Klein, Christine
AU - Klein C
AD - Institute of Neurogenetics and Department of Neurology, University of Lubeck and
- University Hospital Schleswig-Holstein, Lubeck, Germany.
+ University Hospital Schleswig-Holstein, Lubeck 23562, Germany.
FAU - Hardy, John
AU - Hardy J
-AD - Reta Lila Weston Institute, University College London Institute of Neurology,
- Queen Square, London, WC1N 1PJ, UK.
+AD - Reta Lila Weston Institute of Neurological Studies, University College
+ London,London WC1N 1PJ, UK.
FAU - Houlden, Henry
AU - Houlden H
AUID- ORCID: 0000-0002-2866-7777
AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology,
- London, WC1N 3BG, UK.
+ London WC1N 3BG, UK.
FAU - Galvelis, Kamalini Ghosh
AU - Galvelis KG
-AD - Parkinson's Foundation, NewYork, NY 10018, USA.
+AD - Parkinson's Foundation, New York, NY 10018, USA.
FAU - Nalls, Mike A
AU - Nalls MA
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Dahodwala, Nabila
AU - Dahodwala N
-AD - University of Pennsylvania, Philadelphia, PA 19104, USA.
+AD - Department of Neurology, Parkinson's Disease and Movement Disorder Center,
+ University of Pennsylvania, Philadelphia, PA 19104, USA.
FAU - Aamodt, Whitley
AU - Aamodt W
-AD - University of Pennsylvania, Philadelphia, PA 19104, USA.
+AD - Department of Neurology, Parkinson's Disease and Movement Disorder Center,
+ University of Pennsylvania, Philadelphia, PA 19104, USA.
FAU - Hill, Emily
AU - Hill E
-AD - University of Cincinnati, Cincinnati, OH 45221, USA.
+AD - Department of Neurology, University of Cincinnati, Cincinnati, OH 45221, USA.
FAU - Espay, Alberto
AU - Espay A
-AD - University of Cincinnati, Cincinnati, OH 45221, USA.
+AD - Department of Neurology, University of Cincinnati, Cincinnati, OH 45221, USA.
FAU - Factor, Stewart
AU - Factor S
-AD - Emory University, Atlanta, GA 30322, USA.
+AD - Department of Neurology, Emory University, Atlanta, GA 30322, USA.
FAU - Branson, Chantale
AU - Branson C
-AD - Morehouse College, Atlanta, GA 30314, USA.
+AD - Department of Internal Medicine, Morehouse College, Atlanta, GA 30314, USA.
FAU - Blauwendraat, Cornelis
AU - Blauwendraat C
AUID- ORCID: 0000-0001-9358-8111
@@ -2211,48 +2621,99 @@ AD - Center for Alzheimer's and Related Dementias, National Institute on Aging
Health, Bethesda, MD 20892, USA.
FAU - Ojo, Oluwadamilola
AU - Ojo O
-AD - College of Medicine University of Lagos, Idi-araba, Lagos State, Nigeria.
-AD - Lagos University Teaching Hospital, Idi-araba, Lagos State, Nigeria.
+AD - Department of Pharmacology, Therapeutics and Toxicology, College of Medicine
+ University of Lagos, Idi-araba, Lagos State P.M.B 12003, Nigeria.
+AD - Department of Medicine, Neurology Unit, Lagos University Teaching Hospital,
+ Idi-araba, Lagos State 102215, Nigeria.
FAU - Chahine, Lana M
AU - Chahine LM
-AD - University of Pittsburgh, 3471 Fifth Avenue, Pittsburgh, PA 15213, USA.
+AD - Department of Neurology, University of Pittsburgh, Pittsburgh, PA 15213, USA.
FAU - Okubadejo, Njideka
AU - Okubadejo N
-AD - College of Medicine University of Lagos, Idi-araba, Lagos State, Nigeria.
-AD - Lagos University Teaching Hospital, Idi-araba, Lagos State, Nigeria.
+AD - Department of Pharmacology, Therapeutics and Toxicology, College of Medicine
+ University of Lagos, Idi-araba, Lagos State P.M.B 12003, Nigeria.
+AD - Department of Medicine, Neurology Unit, Lagos University Teaching Hospital,
+ Idi-araba, Lagos State 102215, Nigeria.
FAU - Bandres-Ciga, Sara
AU - Bandres-Ciga S
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
LA - eng
+GR - NIH HPC Biowulf cluster/
+GR - Intramural Research Program/
+GR - NIH/
+GR - AG/NIA NIH HHS/United States
+GR - NIA/
+GR - NH/NIH HHS/United States
+GR - ZO1 AG000535/HH/HHS/United States
+GR - AG000949/HH/HHS/United States
+GR - ZIANS003154/NS/NINDS NIH HHS/United States
+GR - HG/NHGRI NIH HHS/United States
+GR - OT2OD032100/NIH STRIDES/
+GR - OT2OD027060/NIH STRIDES/
+GR - OT2OD027852/NIH STRIDES/
+GR - Global Parkinson's Genetics Program/
+GR - Aligning Science Across Parkinson's/
+GR - MJFF-009421/17483/Michael J. Fox Foundation for Parkinson's Research/
+GR - Michael J. Fox Foundation and Aligning Sciences Across Parkinson's Disease Global
+ Parkinson Genetic Program/
+GR - MJFF-026283/Michael J. Fox Foundation/
+GR - Alzheimer's Disease Sequencing Project/
+GR - 5U01AG076482-03/ADSP/
PT - Journal Article
-DEP - 20251008
PL - England
TA - Brain
JT - Brain : a journal of neurology
JID - 0372537
+RN - EC 3.2.1.45 (GBA protein, human)
+RN - EC 3.2.1.45 (Glucosylceramidase)
+RN - EC 3.2.1.21 (beta-Glucosidase)
SB - IM
UOF - medRxiv. 2025 Jan 20:2025.01.14.25320205. doi: 10.1101/2025.01.14.25320205. PMID:
39867380
+MH - Humans
+MH - *Parkinson Disease/genetics/ethnology
+MH - *Black People/genetics
+MH - Male
+MH - Female
+MH - *Genetic Predisposition to Disease/genetics
+MH - Middle Aged
+MH - Mutation/genetics
+MH - Glucosylceramidase/genetics
+MH - Aged
+MH - DNA Copy Number Variations/genetics
+MH - White People/genetics
+MH - Adult
+MH - beta-Glucosidase/genetics
+MH - Cohort Studies
+PMC - PMC13140531
OTO - NOTNLM
OT - African ancestry
OT - Black and African American population
OT - Parkinson's disease
OT - disease-causing mutations
OT - genetics
+COIS- K.L., D.V., M.B.M., H.L.L., H.I., M.J.K. and M.A.N. declare that they are
+ consultants employed by DataTecnica LLC, whose participation in this is part of a
+ consulting agreement between the US National Institutes of Health and said
+ company. M.A.N. also owns stock from Neuron23 Inc and Character Biosciences.
EDAT- 2025/10/08 06:29
-MHDA- 2025/10/08 06:29
+MHDA- 2026/05/05 12:39
+PMCR- 2025/10/08
CRDT- 2025/10/08 05:14
PHST- 2025/01/21 00:00 [received]
PHST- 2025/09/01 00:00 [revised]
-PHST- 2025/10/08 06:29 [medline]
+PHST- 2025/09/14 00:00 [accepted]
+PHST- 2026/05/05 12:39 [medline]
PHST- 2025/10/08 06:29 [pubmed]
PHST- 2025/10/08 05:14 [entrez]
+PHST- 2025/10/08 00:00 [pmc-release]
AID - 8277363 [pii]
+AID - awaf379 [pii]
AID - 10.1093/brain/awaf379 [doi]
-PST - aheadofprint
-SO - Brain. 2025 Oct 8:awaf379. doi: 10.1093/brain/awaf379.
+PST - ppublish
+SO - Brain. 2026 May 5;149(5):1537-1553. doi: 10.1093/brain/awaf379.
PMID- 41009775
OWN - NLM
@@ -2920,7 +3381,7 @@ SO - BMC Neurol. 2025 Sep 1;25(1):370. doi: 10.1186/s12883-025-04378-z.
PMID- 40880681
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20250901
+LR - 20260521
IS - 2692-4560 (Electronic)
IS - 2766-8541 (Print)
IS - 2692-4560 (Linking)
@@ -2985,10 +3446,10 @@ EDAT- 2025/09/01 16:44
MHDA- 2025/09/01 16:45
PMCR- 2026/05/20
CRDT- 2025/08/29 14:16
-PHST- 2026/05/20 00:00 [pmc-release]
PHST- 2025/09/01 16:45 [medline]
PHST- 2025/09/01 16:44 [pubmed]
PHST- 2025/08/29 14:16 [entrez]
+PHST- 2026/05/20 00:00 [pmc-release]
AID - e70072 [pii]
AID - 10.1002/agt2.70072 [doi]
PST - ppublish
@@ -3702,7 +4163,7 @@ PMID- 40684213
OWN - NLM
STAT- MEDLINE
DCOM- 20250719
-LR - 20250723
+LR - 20260515
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
VI - 13
@@ -5588,7 +6049,7 @@ PMID- 39571249
OWN - NLM
STAT- MEDLINE
DCOM- 20241212
-LR - 20241212
+LR - 20260506
IS - 1878-5883 (Electronic)
IS - 0022-510X (Linking)
VI - 467
@@ -6651,7 +7112,7 @@ PMID- 39088078
OWN - NLM
STAT- MEDLINE
DCOM- 20240801
-LR - 20250623
+LR - 20260518
IS - 1432-0533 (Electronic)
IS - 0001-6322 (Print)
IS - 0001-6322 (Linking)
@@ -12539,7 +13000,7 @@ PMID- 35182509
OWN - NLM
STAT- MEDLINE
DCOM- 20220321
-LR - 20260127
+LR - 20260518
IS - 1474-4465 (Electronic)
IS - 1474-4422 (Print)
IS - 1474-4422 (Linking)
@@ -17332,7 +17793,7 @@ PMID- 31783119
OWN - NLM
STAT- MEDLINE
DCOM- 20210115
-LR - 20260501
+LR - 20260514
IS - 1095-953X (Electronic)
IS - 0969-9961 (Print)
IS - 0969-9961 (Linking)
@@ -17912,7 +18373,7 @@ PMID- 31374463
OWN - NLM
STAT- MEDLINE
DCOM- 20200427
-LR - 20260501
+LR - 20260516
IS - 1876-7753 (Electronic)
IS - 1873-5061 (Print)
IS - 1873-5061 (Linking)
@@ -17983,8 +18444,6 @@ AD - Department of Neurology, 109 Zina Pitcher Place, University of Michigan, A
Arbor, MI 48109, United States. Electronic address: henryp@med.umich.edu.
LA - eng
GR - R01 NS038712/NS/NINDS NIH HHS/United States
-GR - R01 NS085054/NS/NINDS NIH HHS/United States
-GR - U01 NS104326/NS/NINDS NIH HHS/United States
PT - Journal Article
PT - Research Support, N.I.H., Extramural
PT - Research Support, Non-U.S. Gov't
@@ -24867,7 +25326,7 @@ PMID- 26354989
OWN - NLM
STAT- MEDLINE
DCOM- 20160125
-LR - 20250827
+LR - 20260518
IS - 1526-632X (Electronic)
IS - 0028-3878 (Print)
IS - 0028-3878 (Linking)
@@ -27444,7 +27903,7 @@ PMID- 24972706
OWN - NLM
STAT- MEDLINE
DCOM- 20141106
-LR - 20250529
+LR - 20260518
IS - 1460-2156 (Electronic)
IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
@@ -28134,6 +28593,7 @@ PST - ppublish
SO - Neurobiol Aging. 2014 Sep;35(9):2179.e15-8. doi:
10.1016/j.neurobiolaging.2014.03.020. Epub 2014 Mar 22.
+
PMID- 24675225
OWN - NLM
STAT- MEDLINE
@@ -28547,7 +29007,6 @@ AID - 10.1159/000357404 [doi]
PST - ppublish
SO - Eur Neurol. 2014;71(5-6):262-70. doi: 10.1159/000357404. Epub 2014 Feb 12.
-
PMID- 24242192
OWN - NLM
STAT- MEDLINE
diff --git a/data/literature/ATXN7_batch_01.txt b/data/literature/ATXN7_batch_01.txt
index dfb8e006..30506209 100644
--- a/data/literature/ATXN7_batch_01.txt
+++ b/data/literature/ATXN7_batch_01.txt
@@ -3,7 +3,7 @@ PMID- 41771688
OWN - NLM
STAT- MEDLINE
DCOM- 20260308
-LR - 20260308
+LR - 20260531
IS - 2575-1077 (Electronic)
IS - 2575-1077 (Linking)
VI - 9
@@ -33,97 +33,97 @@ CI - (c) 2026 Romano et al.
FAU - Romano, Lisa El
AU - Romano LE
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Tsukagoshi, Setsuki
AU - Tsukagoshi S
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Davey-Osuch, Emily E
AU - Davey-Osuch EE
AUID- ORCID: 0000-0001-7204-5089
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Ajredini, Ramadan
AU - Ajredini R
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Manasi, Kamat
AU - Manasi K
AD - Southeast Center for Integrated Metabolomics, Clinical and Translational Science
- Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ Institute, University of Florida, Gainesville, FL, USA.
FAU - Ortiz, Tala Vr
AU - Ortiz TV
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Rijos, Eduardo
AU - Rijos E
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Bourgon, Nathan J
AU - Bourgon NJ
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Ames, S Elaine
AU - Ames SE
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Garrett, Timothy J
AU - Garrett TJ
AD - Southeast Center for Integrated Metabolomics, Clinical and Translational Science
- Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ Institute, University of Florida, Gainesville, FL, USA.
AD - Department of Pathology, Immunology and Laboratory Medicine, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Cleary, John D
AU - Cleary JD
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Wang, Eric T
AU - Wang ET
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
-AD - Genetics Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
-AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
+AD - Genetics Institute, University of Florida, Gainesville, FL, USA.
+AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
FAU - Ranum, Laura Pw
AU - Ranum LP
AUID- ORCID: 0000-0001-9808-9661
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA ranum@ufl.edu. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA ranum@ufl.edu.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
-AD - Genetics Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
-AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
+AD - Genetics Institute, University of Florida, Gainesville, FL, USA.
+AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
AD - Department of Neurology, College of Medicine, University of Florida, Gainesville,
- FL, USA. ROR: https://ror.org/02y3ad647
+ FL, USA.
AD - Norman Fixel Institute for Neurological Disease, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
LA - eng
+GR - R01 NS098819/NS/NINDS NIH HHS/United States
+GR - R37 NS040389/NS/NINDS NIH HHS/United States
+GR - R01 NS117910/NS/NINDS NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Intramural
+PT - Research Support, Non-U.S. Gov't
+PT - Research Support, U.S. Gov't, Non-P.H.S.
DEP - 20260302
PL - United States
TA - Life Sci Alliance
@@ -532,7 +532,7 @@ PMID- 40417743
OWN - NLM
STAT- MEDLINE
DCOM- 20250803
-LR - 20260416
+LR - 20260523
IS - 1530-0366 (Electronic)
IS - 1098-3600 (Print)
IS - 1098-3600 (Linking)
@@ -657,10 +657,12 @@ AD - Dr John T. Macdonald Foundation Department of Human Genetics and John P. H
Institute for Human Genetics, University of Miami Miller School of Medicine,
Miami, FL. Electronic address: szuchner@med.miami.edu.
LA - eng
-GR - K99 HG012796/HG/NHGRI NIH HHS/United States
GR - R00 HG012796/HG/NHGRI NIH HHS/United States
-GR - RC2 TR004391/TR/NCATS NIH HHS/United States
GR - U01 NS134353/NS/NINDS NIH HHS/United States
+GR - U01 HG007672/HG/NHGRI NIH HHS/United States
+GR - RC2 TR004391/TR/NCATS NIH HHS/United States
+GR - K99 HG012796/HG/NHGRI NIH HHS/United States
+GR - U01 NS134350/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20250522
PL - United States
@@ -1330,10 +1332,10 @@ CRDT- 2025/05/26 06:18
PHST- 2024/08/07 00:00 [received]
PHST- 2025/05/15 00:00 [revised]
PHST- 2025/05/16 00:00 [accepted]
-PHST- 2026/05/22 00:00 [pmc-release]
PHST- 2025/08/03 12:31 [medline]
PHST- 2025/05/26 12:37 [pubmed]
PHST- 2025/05/26 06:18 [entrez]
+PHST- 2026/05/22 00:00 [pmc-release]
AID - S1098-3600(25)00109-1 [pii]
AID - 10.1016/j.gim.2025.101462 [doi]
PST - ppublish
@@ -1584,7 +1586,7 @@ PMID- 39571249
OWN - NLM
STAT- MEDLINE
DCOM- 20241212
-LR - 20241212
+LR - 20260506
IS - 1878-5883 (Electronic)
IS - 0022-510X (Linking)
VI - 467
@@ -4464,7 +4466,7 @@ PMID- 35182509
OWN - NLM
STAT- MEDLINE
DCOM- 20220321
-LR - 20260127
+LR - 20260518
IS - 1474-4465 (Electronic)
IS - 1474-4422 (Print)
IS - 1474-4422 (Linking)
@@ -10327,7 +10329,7 @@ PMID- 24972706
OWN - NLM
STAT- MEDLINE
DCOM- 20141106
-LR - 20250529
+LR - 20260518
IS - 1460-2156 (Electronic)
IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
@@ -11627,6 +11629,7 @@ STAT- MEDLINE
DCOM- 20120104
LR - 20260429
IS - 1529-2401 (Electronic)
+IS - 0270-6474 (Print)
IS - 0270-6474 (Linking)
VI - 31
IP - 45
@@ -11729,11 +11732,14 @@ PMC - PMC3256125
MID - NIHMS340603
EDAT- 2011/11/11 06:00
MHDA- 2012/01/05 06:00
+PMCR- 2012/05/09
CRDT- 2011/11/11 06:00
PHST- 2011/11/11 06:00 [entrez]
PHST- 2011/11/11 06:00 [pubmed]
PHST- 2012/01/05 06:00 [medline]
+PHST- 2012/05/09 00:00 [pmc-release]
AID - 31/45/16269 [pii]
+AID - 3734364 [pii]
AID - 10.1523/JNEUROSCI.4000-11.2011 [doi]
PST - ppublish
SO - J Neurosci. 2011 Nov 9;31(45):16269-78. doi: 10.1523/JNEUROSCI.4000-11.2011.
diff --git a/data/literature/ATXN8OS_batch_01.txt b/data/literature/ATXN8OS_batch_01.txt
index 085578b9..15ff150d 100644
--- a/data/literature/ATXN8OS_batch_01.txt
+++ b/data/literature/ATXN8OS_batch_01.txt
@@ -1,9 +1,316 @@
+PMID- 42096001
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260507
+LR - 20260510
+IS - 1473-4230 (Electronic)
+IS - 1473-4222 (Print)
+IS - 1473-4222 (Linking)
+VI - 25
+IP - 3
+DP - 2026 May 7
+TI - Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed
+ Cerebellar Ataxia - A Preliminary Study.
+LID - 10.1007/s12311-026-02003-4 [doi]
+LID - 73
+AB - Spinocerebellar ataxia type 27B (SCA27B), caused by an intronic GAA repeat
+ expansion in the FGF14 gene, has recently emerged as a major cause of late-onset
+ cerebellar ataxia (LOCA). Its prevalence and clinical profile in Central and
+ Eastern Europe remain largely unknown. To determine the frequency and phenotypic
+ characteristics of FGF14 GAA.TTC repeat expansions, a large cohort of Polish
+ patients with undiagnosed adult-onset cerebellar ataxia was investigated. We
+ retrospectively analyzed 701 patients (age of onset >/= 25 years) with adult-onset
+ cerebellar ataxia of unknown etiology, previously tested negative for SCA1, SCA2,
+ SCA3, SCA8, and RFC1 expansions. GAA.TTC repeat lengths were assessed using
+ long-range and repeat-primed PCR. Expansions >/= 250 repeats were classified as
+ pathogenic. Clinical and MRI data were evaluated where available. A control group
+ of 66 neurologically healthy individuals was also screened. Pathogenic FGF14
+ expansions (>/= 250 repeats) were identified in 4.4% (31/701) of patients,
+ including 23 with fully penetrant (>/= 300) and 8 with incompletely penetrant
+ (250-299) alleles. No pathogenic expansions were found in controls. The mean age
+ of onset was 49.8 years. Common symptoms included balance and gait disturbances,
+ cerebellar syndrome, and episodic features such as diplopia. Cerebellar atrophy
+ was present in 45% of patients with available MRI. No significant correlation
+ between repeat length and age of onset was observed. Our findings confirm that
+ FGF14 repeat expansions are an underrecognized cause of LOCA in Poland and
+ support their inclusion in standard genetic testing for adult-onset ataxias.
+ Further studies are warranted to better define penetrance and genotype-phenotype
+ correlations.
+CI - (c) 2026. The Author(s).
+FAU - Matlawska, Marta
+AU - Matlawska M
+AUID- ORCID: 0000-0003-4310-5091
+AD - Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 ,
+ 02-957, Warsaw, Poland. mmatlawska@ipin.edu.pl.
+FAU - Ziora-Jakutowicz, Karolina
+AU - Ziora-Jakutowicz K
+AD - Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 ,
+ 02-957, Warsaw, Poland.
+FAU - Dicaire, Marie-Josee
+AU - Dicaire MJ
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+FAU - Pera, Joanna
+AU - Pera J
+AD - Department of Neurology, Jagiellonian University Medical College, Krakow, Poland.
+FAU - Pellerin, David
+AU - Pellerin D
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
+ London and The National Hospital for Neurology and Neurosurgery, University
+ College London, London, United Kingdom.
+FAU - Brais, Bernard
+AU - Brais B
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+FAU - Iruzubieta, Pablo
+AU - Iruzubieta P
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+FAU - Elert-Dobkowska, Ewelina
+AU - Elert-Dobkowska E
+AD - Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 ,
+ 02-957, Warsaw, Poland.
+FAU - Sulek, Anna
+AU - Sulek A
+AD - Faculty of Medicine, Lazarski University, Warsaw, Poland.
+LA - eng
+PT - Journal Article
+DEP - 20260507
+PL - United States
+TA - Cerebellum
+JT - Cerebellum (London, England)
+JID - 101089443
+RN - 62031-54-3 (Fibroblast Growth Factors)
+RN - 0 (fibroblast growth factor 14)
+SB - IM
+MH - Humans
+MH - Male
+MH - Female
+MH - Middle Aged
+MH - *Fibroblast Growth Factors/genetics
+MH - Poland/epidemiology
+MH - Adult
+MH - *Cerebellar Ataxia/genetics/diagnosis/epidemiology
+MH - Aged
+MH - Retrospective Studies
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Age of Onset
+MH - Magnetic Resonance Imaging
+PMC - PMC13152904
+OTO - NOTNLM
+OT - FGF14 expansion
+OT - Neurodegenerative disorders
+OT - SCA27B
+OT - Spinocerebellar ataxia
+COIS- Declarations. Human Ethics and Consent to Participate: The study was conducted in
+ accordance with the Declaration of Helsinki and its subsequent amendments. The
+ protocol was approved by the Local Bioethics Committee at the Institute of
+ Psychiatry and Neurology in Warsaw (resolution no. 30/2021 November 17, 2021).
+ Consents to Participate: Informed consent was obtained from all individual
+ participants included in the study. Competing Interests: The authors declare no
+ competing interests.
+EDAT- 2026/05/07 12:36
+MHDA- 2026/05/07 12:37
+PMCR- 2026/05/07
+CRDT- 2026/05/07 11:08
+PHST- 2025/09/07 00:00 [received]
+PHST- 2026/04/09 00:00 [accepted]
+PHST- 2026/05/07 12:37 [medline]
+PHST- 2026/05/07 12:36 [pubmed]
+PHST- 2026/05/07 11:08 [entrez]
+PHST- 2026/05/07 00:00 [pmc-release]
+AID - 10.1007/s12311-026-02003-4 [pii]
+AID - 2003 [pii]
+AID - 10.1007/s12311-026-02003-4 [doi]
+PST - epublish
+SO - Cerebellum. 2026 May 7;25(3):73. doi: 10.1007/s12311-026-02003-4.
+
+PMID- 42094143
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260525
+LR - 20260525
+DP - 2026 May 1
+TI - Genome-wide detection and clinical prioritization of tandem repeat outliers using
+ long-read sequencing.
+LID - 2026.04.30.26352103 [pii]
+LID - 10.64898/2026.04.30.26352103 [doi]
+AB - BACKGROUND: Tandem repeat expansions (TREs) cause over 60 known neurological,
+ neuromuscular, and developmental disorders. Detecting these expansions
+ genome-wide is challenging due to their size, sequence complexity (including
+ interruptions), and population variation. While long-read sequencing is an
+ emerging technology that can fully resolve many TREs, no methods have been
+ described for genome-wide identification and prioritization of candidate
+ pathogenic TREs with this technology. METHODS: Using a newly developed pipeline
+ called TRoLR (Tandem Repeat outliers identified with Long Reads), we analyzed
+ haplotype-resolved long-read genome assemblies from 471 ancestrally diverse
+ individuals to define population distributions for over three million tandem
+ repeat loci, capturing clinically relevant interruptions. Outlier expansions were
+ identified relative to these distributions and prioritized by genomic location
+ and comparison to known pathogenic loci. The framework was applied to 47 cases
+ from the Undiagnosed Diseases Network. RESULTS: Population stratification of
+ repeat metrics was observed at 7% of loci, with highest variability among
+ individuals of African ancestry. Outlier analysis confirmed known pathogenic CNBP
+ and ATXN8OS expansions, detected carrier-range alleles at RFC1, CSTB, and FXN,
+ and revealed a novel CGG expansion in the 5' UTR of PCMTD2 exhibiting
+ hypermethylation and intergenerational instability. Genome-wide screening also
+ identified intronic pentanucleotide expansions at IQCB1 and MAP3K15 in controls
+ composed of motifs that have been associated with pathogenicity at other disease
+ loci. CONCLUSIONS: Quantifying the longest uninterrupted repeat segment in
+ long-read assemblies enables detection of clinically relevant repeat expansions
+ and loss of stabilizing interruptions. This approach enhances both diagnostic
+ confirmation and discovery of candidate pathogenic expansions, with implications
+ for clinical interpretation and research into complex repeat-mediated disorders.
+FAU - Gibson, Sophia B
+AU - Gibson SB
+AUID- ORCID: 0000-0001-9839-9045
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+FAU - Damaraju, Nikhita
+AU - Damaraju N
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+AD - Institute for Public Health Genetics, University of Washington School of Public
+ Health, Seattle, WA.
+FAU - Gustafson, J Gus
+AU - Gustafson JG
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+AD - Molecular and Cellular Biology Program, University of Washington, Seattle, WA.
+FAU - Balton, Elsa V
+AU - Balton EV
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Chanprasert, Sirisak
+AU - Chanprasert S
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Glass, Ian A
+AU - Glass IA
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+FAU - Horike-Pyne, Martha
+AU - Horike-Pyne M
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Kumar, Runjun D
+AU - Kumar RD
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+FAU - Leppig, Kathleen A
+AU - Leppig KA
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Lundberg, Chris
+AU - Lundberg C
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Ranchalis, Jane
+AU - Ranchalis J
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Rosenthal, Elisabeth A
+AU - Rosenthal EA
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Solomon, Andrew K
+AU - Solomon AK
+AD - Division of Rheumatology, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Stergachis, Andrew B
+AU - Stergachis AB
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Wener, Mark
+AU - Wener M
+AD - Division of Rheumatology, Department of Medicine, University of Washington,
+ Seattle, WA.
+CN - Undiagnosed Diseases Network
+FAU - Jarvik, Gail P
+AU - Jarvik GP
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Blue, Elizabeth E
+AU - Blue EE
+AD - Institute for Public Health Genetics, University of Washington School of Public
+ Health, Seattle, WA.
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+AD - Brotman Baty Institute for Precision Medicine, University of Washington, Seattle,
+ WA.
+FAU - Dipple, Katrina M
+AU - Dipple KM
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Center for Clinical and Translational Research, Seattle Children's Research
+ Institute, Seattle, WA.
+FAU - Dashnow, Harriet
+AU - Dashnow H
+AD - Department of Biomedical Informatics, University of Colorado Anschutz, Aurora,
+ CO.
+FAU - Starita, Lea M
+AU - Starita LM
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Brotman Baty Institute for Precision Medicine, University of Washington, Seattle,
+ WA.
+FAU - Miller, Danny E
+AU - Miller DE
+AUID- ORCID: 0000-0001-6096-8601
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+AD - Brotman Baty Institute for Precision Medicine, University of Washington, Seattle,
+ WA.
+LA - eng
+PT - Journal Article
+PT - Preprint
+DEP - 20260501
+PL - United States
+TA - medRxiv
+JT - medRxiv : the preprint server for health sciences
+JID - 101767986
+PMC - PMC13142565
+OTO - NOTNLM
+OT - clinical genomics
+OT - long-read sequencing
+OT - longest pure segment
+OT - outlier detection
+OT - population reference
+OT - repeat expansion disorders
+OT - tandem repeat expansion
+EDAT- 2026/05/07 06:36
+MHDA- 2026/05/07 06:37
+PMCR- 2026/05/05
+CRDT- 2026/05/07 05:10
+PHST- 2026/05/07 06:36 [pubmed]
+PHST- 2026/05/07 06:37 [medline]
+PHST- 2026/05/07 05:10 [entrez]
+PHST- 2026/05/05 00:00 [pmc-release]
+AID - 2026.04.30.26352103 [pii]
+AID - 10.64898/2026.04.30.26352103 [doi]
+PST - epublish
+SO - medRxiv [Preprint]. 2026 May 1:2026.04.30.26352103. doi:
+ 10.64898/2026.04.30.26352103.
+
PMID- 41771688
OWN - NLM
STAT- MEDLINE
DCOM- 20260308
-LR - 20260308
+LR - 20260531
IS - 2575-1077 (Electronic)
IS - 2575-1077 (Linking)
VI - 9
@@ -33,97 +340,97 @@ CI - (c) 2026 Romano et al.
FAU - Romano, Lisa El
AU - Romano LE
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Tsukagoshi, Setsuki
AU - Tsukagoshi S
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Davey-Osuch, Emily E
AU - Davey-Osuch EE
AUID- ORCID: 0000-0001-7204-5089
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Ajredini, Ramadan
AU - Ajredini R
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Manasi, Kamat
AU - Manasi K
AD - Southeast Center for Integrated Metabolomics, Clinical and Translational Science
- Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ Institute, University of Florida, Gainesville, FL, USA.
FAU - Ortiz, Tala Vr
AU - Ortiz TV
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Rijos, Eduardo
AU - Rijos E
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Bourgon, Nathan J
AU - Bourgon NJ
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Ames, S Elaine
AU - Ames SE
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Garrett, Timothy J
AU - Garrett TJ
AD - Southeast Center for Integrated Metabolomics, Clinical and Translational Science
- Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ Institute, University of Florida, Gainesville, FL, USA.
AD - Department of Pathology, Immunology and Laboratory Medicine, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Cleary, John D
AU - Cleary JD
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Wang, Eric T
AU - Wang ET
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
-AD - Genetics Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
-AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
+AD - Genetics Institute, University of Florida, Gainesville, FL, USA.
+AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
FAU - Ranum, Laura Pw
AU - Ranum LP
AUID- ORCID: 0000-0001-9808-9661
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA ranum@ufl.edu. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA ranum@ufl.edu.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
-AD - Genetics Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
-AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
+AD - Genetics Institute, University of Florida, Gainesville, FL, USA.
+AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
AD - Department of Neurology, College of Medicine, University of Florida, Gainesville,
- FL, USA. ROR: https://ror.org/02y3ad647
+ FL, USA.
AD - Norman Fixel Institute for Neurological Disease, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
LA - eng
+GR - R01 NS098819/NS/NINDS NIH HHS/United States
+GR - R37 NS040389/NS/NINDS NIH HHS/United States
+GR - R01 NS117910/NS/NINDS NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Intramural
+PT - Research Support, Non-U.S. Gov't
+PT - Research Support, U.S. Gov't, Non-P.H.S.
DEP - 20260302
PL - United States
TA - Life Sci Alliance
@@ -6121,7 +6428,7 @@ PMID- 21173221
OWN - NLM
STAT- MEDLINE
DCOM- 20110210
-LR - 20240104
+LR - 20260512
IS - 1091-6490 (Electronic)
IS - 0027-8424 (Print)
IS - 0027-8424 (Linking)
@@ -6194,15 +6501,13 @@ AU - Ranum LP
LA - eng
GR - P30 CA77598/CA/NCI NIH HHS/United States
GR - P30 CA077598/CA/NCI NIH HHS/United States
-GR - R01 AR046799/AR/NIAMS NIH HHS/United States
GR - P50 CA101955/CA/NCI NIH HHS/United States
GR - R01 NS040389/NS/NINDS NIH HHS/United States
GR - R01NS040389/NS/NINDS NIH HHS/United States
+GR - P30 AR057220/AR/NIAMS NIH HHS/United States
GR - P01 NS058901/NS/NINDS NIH HHS/United States
GR - AR057220/AR/NIAMS NIH HHS/United States
GR - P01NS058901/NS/NINDS NIH HHS/United States
-GR - R01 HL089249/HL/NHLBI NIH HHS/United States
-GR - P30 AR057220/AR/NIAMS NIH HHS/United States
PT - Journal Article
PT - Research Support, N.I.H., Extramural
PT - Research Support, Non-U.S. Gov't
diff --git a/data/literature/C9orf72_batch_01.txt b/data/literature/C9orf72_batch_01.txt
index e33e5d91..928a81ea 100644
--- a/data/literature/C9orf72_batch_01.txt
+++ b/data/literature/C9orf72_batch_01.txt
@@ -1,4 +1,1356 @@
+PMID- 42222887
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260601
+LR - 20260601
+IS - 1558-8238 (Electronic)
+IS - 0021-9738 (Linking)
+VI - 136
+IP - 11
+DP - 2026 Jun 1
+TI - Multimodal analysis of cell-free DNA identifies epigenetic biomarkers for
+ amyotrophic lateral sclerosis diagnosis and progression.
+LID - e191508 [pii]
+LID - 10.1172/JCI191508 [doi]
+AB - The role of the epigenome in age-related neurodegenerative disorders remains
+ understudied. Here, we analyzed circulating cell-free DNA (cfDNA) from blood to
+ detect methylation changes as a liquid biopsy for Amyotrophic Lateral Sclerosis
+ (ALS). Our study included 20 patients with sporadic ALS, 10 patients with
+ C9orf72-associated ALS, 10 asymptomatic carriers of the C9orf72 repeat expansion
+ mutation, and 21 nondisease control individuals. Following targeted enzymatic
+ methyl-sequencing (EM-seq) of approximately 4 million CpG sites, we detected
+ numerous differentially methylated genes, including several implicated in ALS
+ disease risk and pathogenesis. By integrating multiple epigenetic features, we
+ delineated a distinct epigenetic signature, which achieved an average area under
+ the curve (AUC) of 0.91 +/- 0.10 upon receiver operator characteristic (ROC)
+ analysis, which enabled detection of approximately 70% of patients with ALS with
+ close to 100% specificity. Furthermore, we also identified a set of genes whose
+ methylation status significantly correlated with clinical disease progression and
+ cerebrospinal fluid (CSF) neurofilament levels. Our results reveal the potential
+ of cfDNA-based biomarkers to accurately diagnose ALS and potentially predict
+ disease progression.
+FAU - Michels, Sebastian
+AU - Michels S
+AD - Department of Neurology, University of Ulm, Ulm, Germany.
+FAU - Chen, Chaorong
+AU - Chen C
+AD - Department of Biological Chemistry.
+FAU - Ruf, Wolfgang P
+AU - Ruf WP
+AD - Department of Neurology, University of Ulm, Ulm, Germany.
+FAU - Garcia Garcia, M Madhy
+AU - Garcia Garcia MM
+AD - Department of Pathology & Laboratory Medicine.
+FAU - Arnold, Frederick J
+AU - Arnold FJ
+AD - Department of Pathology & Laboratory Medicine.
+FAU - Wu, Zhuoxing
+AU - Wu Z
+AD - Department of Biological Chemistry.
+FAU - Bennett, Craig L
+AU - Bennett CL
+AD - Department of Pathology & Laboratory Medicine.
+FAU - Shams, Daniel
+AU - Shams D
+AD - Department of Biological Chemistry.
+FAU - Thompson, Leslie M
+AU - Thompson LM
+AD - Department of Biological Chemistry.
+AD - Department of Psychiatry & Human Behavior, and.
+AD - Department of Neurobiology & Behavior, University of California, Irvine, Irvine,
+ California, USA.
+AD - UCI Institute for Memory Impairment & Neurological Disorders, Irvine, California,
+ USA.
+AD - UCI Stem Cell Research Center, Irvine, California, USA.
+AD - UCI Center for Neurotherapeutics, University of California, Irvine, Irvine,
+ California, USA.
+FAU - Walker, Alyssa C
+AU - Walker AC
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
+FAU - Dickson, Dennis W
+AU - Dickson DW
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
+AD - Neuroscience Graduate Program, Mayo Graduate School, Mayo Clinic College of
+ Medicine, Jacksonville, Florida, USA.
+FAU - Petrucelli, Leonard
+AU - Petrucelli L
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
+AD - Neuroscience Graduate Program, Mayo Graduate School, Mayo Clinic College of
+ Medicine, Jacksonville, Florida, USA.
+FAU - Dorst, Johannes
+AU - Dorst J
+AD - Department of Neurology, University of Ulm, Ulm, Germany.
+FAU - Prudencio, Mercedes
+AU - Prudencio M
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
+AD - Neuroscience Graduate Program, Mayo Graduate School, Mayo Clinic College of
+ Medicine, Jacksonville, Florida, USA.
+FAU - Li, Wei
+AU - Li W
+AD - Department of Biological Chemistry.
+FAU - La Spada, Albert R
+AU - La Spada AR
+AD - Department of Biological Chemistry.
+AD - Department of Pathology & Laboratory Medicine.
+AD - Department of Neurobiology & Behavior, University of California, Irvine, Irvine,
+ California, USA.
+AD - UCI Institute for Memory Impairment & Neurological Disorders, Irvine, California,
+ USA.
+AD - UCI Stem Cell Research Center, Irvine, California, USA.
+AD - UCI Center for Neurotherapeutics, University of California, Irvine, Irvine,
+ California, USA.
+LA - eng
+PT - Journal Article
+DEP - 20260601
+PL - United States
+TA - J Clin Invest
+JT - The Journal of clinical investigation
+JID - 7802877
+RN - 0 (Cell-Free Nucleic Acids)
+RN - 0 (Biomarkers)
+RN - 0 (C9orf72 Protein)
+RN - 0 (C9orf72 protein, human)
+RN - 0 (Neurofilament Proteins)
+SB - IM
+MH - Humans
+MH - *Amyotrophic Lateral Sclerosis/genetics/diagnosis/blood
+MH - *Cell-Free Nucleic Acids/genetics/blood/cerebrospinal fluid
+MH - Female
+MH - *Epigenesis, Genetic
+MH - *DNA Methylation
+MH - Male
+MH - Biomarkers/blood/cerebrospinal fluid
+MH - C9orf72 Protein/genetics
+MH - Disease Progression
+MH - Middle Aged
+MH - Aged
+MH - Neurofilament Proteins/cerebrospinal fluid
+MH - Adult
+OTO - NOTNLM
+OT - Biomarkers
+OT - Epigenetics
+OT - Genetics
+OT - Neurodegeneration
+OT - Neuroscience
+EDAT- 2026/06/01 12:38
+MHDA- 2026/06/01 12:39
+CRDT- 2026/06/01 06:19
+PHST- 2025/01/22 00:00 [received]
+PHST- 2026/03/24 00:00 [accepted]
+PHST- 2026/06/01 12:39 [medline]
+PHST- 2026/06/01 12:38 [pubmed]
+PHST- 2026/06/01 06:19 [entrez]
+AID - 191508 [pii]
+AID - 10.1172/JCI191508 [doi]
+PST - epublish
+SO - J Clin Invest. 2026 Jun 1;136(11):e191508. doi: 10.1172/JCI191508. eCollection
+ 2026 Jun 1.
+
+PMID- 42221822
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260601
+LR - 20260601
+IS - 2589-0042 (Electronic)
+IS - 2589-0042 (Linking)
+VI - 29
+IP - 6
+DP - 2026 Jun 19
+TI - Global transcriptional changes across multiple isogenic C9orf72 patient
+ iPSC-derived neurons.
+PG - 116054
+LID - 10.1016/j.isci.2026.116054 [doi]
+LID - 116054
+AB - Hexanucleotide repeat expansions in C9orf72 are the most common genetic cause of
+ amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD); yet,
+ mechanisms underlying selective neuronal vulnerability remain unclear. A major
+ challenge in identifying consistent transcriptomic changes across C9orf72
+ patient-derived neuron lines has been heterogeneous differentiations, lack of
+ isogenic controls and low sequencing depth. To overcome these challenges, we
+ generated homogeneous cortical neuron (iCNs) cultures from multiple isogenic
+ C9orf72 patient iPSC pairs and performed RNA deep sequencing. We identified
+ robust and reproducible gene expression and splicing alterations in pathways
+ related to cytoskeletal organization, extracellular matrix adhesion and synaptic
+ signaling. Notably, we observed exon 30 skipping in the cytoskeletal regulator
+ filamin B (FLNB), resulting in loss of its hinge domain. This was accompanied by
+ altered FLNB localization, disrupted actin crosslinking, and mechanotransduction
+ signaling. These findings reveal convergent transcriptomic and functional
+ disruptions across multiple isogenic C9orf72 patient-derived iCNs offering
+ insights into ALS/FTD pathogenesis.
+CI - (c) 2026 Published by Elsevier Inc.
+FAU - Sreeram, Aparna
+AU - Sreeram A
+AD - Department of Neurology, University of Massachusetts Chan Medical School,
+ Worcester, MA 01605, USA.
+AD - Program in Neuroscience, Graduate School of Biomedical Sciences, University of
+ Massachusetts Chan Medical School, Worcester, MA 01605, USA.
+FAU - Baron, Desiree M
+AU - Baron DM
+AD - Department of Neurology, University of Massachusetts Chan Medical School,
+ Worcester, MA 01605, USA.
+FAU - Brusati, Alberto
+AU - Brusati A
+AD - Department of Neurology, University of Massachusetts Chan Medical School,
+ Worcester, MA 01605, USA.
+FAU - Stallworth, Karly
+AU - Stallworth K
+AD - Department of Neurology, University of Massachusetts Chan Medical School,
+ Worcester, MA 01605, USA.
+FAU - Humphrey, Jack
+AU - Humphrey J
+AD - Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York,
+ NY, USA.
+AD - Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount
+ Sinai, New York, NY, USA.
+AD - Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount
+ Sinai, New York, NY, USA.
+AD - Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at
+ Mount Sinai, New York, NY, USA.
+FAU - Landers, John E
+AU - Landers JE
+AD - Department of Neurology, University of Massachusetts Chan Medical School,
+ Worcester, MA 01605, USA.
+LA - eng
+PT - Journal Article
+DEP - 20260522
+PL - United States
+TA - iScience
+JT - iScience
+JID - 101724038
+PMC - PMC13217883
+OTO - NOTNLM
+OT - Cell biology
+OT - Genomics
+OT - Neuroscience
+COIS- J.E.L. is a consultant for ACI Clinical LLC sponsored by Biogen, Inc. and Ionis
+ Pharmaceuticals, Inc.
+EDAT- 2026/06/01 12:39
+MHDA- 2026/06/01 12:40
+PMCR- 2026/05/22
+CRDT- 2026/06/01 06:08
+PHST- 2025/11/05 00:00 [received]
+PHST- 2025/11/13 00:00 [revised]
+PHST- 2026/05/05 00:00 [accepted]
+PHST- 2026/06/01 12:40 [medline]
+PHST- 2026/06/01 12:39 [pubmed]
+PHST- 2026/06/01 06:08 [entrez]
+PHST- 2026/05/22 00:00 [pmc-release]
+AID - S2589-0042(26)01429-X [pii]
+AID - 116054 [pii]
+AID - 10.1016/j.isci.2026.116054 [doi]
+PST - epublish
+SO - iScience. 2026 May 22;29(6):116054. doi: 10.1016/j.isci.2026.116054. eCollection
+ 2026 Jun 19.
+
+PMID- 42211284
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260529
+LR - 20260529
+IS - 1662-4548 (Print)
+IS - 1662-453X (Electronic)
+IS - 1662-453X (Linking)
+VI - 20
+DP - 2026
+TI - Disrupted sleep-wake cycles and circadian rhythms in a Drosophila model of
+ C9orf72-FTD.
+PG - 1814072
+LID - 10.3389/fnins.2026.1814072 [doi]
+LID - 1814072
+AB - Frontotemporal dementia (FTD) is a neurodegenerative disorder that affects
+ behavior, personality, motor activity, speech, cognition, and sleeping patterns.
+ Previous findings support the idea that disruption of sleep and circadian systems
+ may not only be affected by this disease but also work to actively shape the
+ clinical phenotype of FTD. Thus, understanding how sleep-wake cycles are altered
+ may provide insight into mechanisms that influence both disease progression and
+ quality of life. We studied an established Drosophila model of FTD to investigate
+ changes in the sleep-wake cycle of both young and aging flies. A
+ C9orf72-associated FTD model was chosen, as the most common genetic cause of
+ sporadic and hereditary FTD is a hexanucleotide repeat expansion in intron 1 of
+ the C9orf72 gene. We performed behavioral assays to measure locomotor activity in
+ both a 12 h:12 h light/dark (LD) cycle and complete darkness (free running). From
+ this data, we were able to analyze changes in sleep and activity patterns, as
+ well as circadian rhythms in flies modeling C9orf72-FTD. Our data suggests that
+ these flies have increased nighttime activity and decreased sleep at night, which
+ becomes more significant as they age. Older flies also displayed decreased sleep
+ pressure during both day and night and lost rhythmicity. Of specific interest,
+ young flies modeling C9orf72-FTD demonstrated altered day and night sleep
+ latency, decreased sleep depth at night, and reduced rhythmicity in constant
+ darkness. This suggests that changes in their sleep-wake cycle occur early in
+ disease progression and provide an avenue for potential intervention and early
+ diagnostic markers.
+CI - Copyright (c) 2026 Eby, Shields, DelNegro, Morley, Snodgrass-Belt and Tipping.
+FAU - Eby, Kendall E
+AU - Eby KE
+AD - Department of Biology, Providence College, Providence, RI, United States.
+FAU - Shields, Braeden R
+AU - Shields BR
+AD - Department of Biology, Providence College, Providence, RI, United States.
+FAU - DelNegro, Isabella
+AU - DelNegro I
+AD - Department of Biology, Providence College, Providence, RI, United States.
+FAU - Morley, Sarah
+AU - Morley S
+AD - Department of Biology, Providence College, Providence, RI, United States.
+FAU - Snodgrass-Belt, Pamela A
+AU - Snodgrass-Belt PA
+AD - Department of Biology, Providence College, Providence, RI, United States.
+FAU - Tipping, Marla
+AU - Tipping M
+AD - Department of Biology, Providence College, Providence, RI, United States.
+LA - eng
+SI - figshare/10.6084/m9.figshare.31343224
+PT - Journal Article
+DEP - 20260513
+PL - Switzerland
+TA - Front Neurosci
+JT - Frontiers in neuroscience
+JID - 101478481
+PMC - PMC13214579
+OTO - NOTNLM
+OT - C9orf72
+OT - Frontotemporal dementia FTD (FTD)
+OT - activity level changes
+OT - circadian rhythm
+OT - neurodegeneration
+OT - sleep depth
+OT - sleep disruption
+OT - sleep quality
+COIS- The author(s) declared that this work was conducted in the absence of any
+ commercial or financial relationships that could be construed as a potential
+ conflict of interest.
+EDAT- 2026/05/29 15:43
+MHDA- 2026/05/29 15:44
+PMCR- 2026/05/13
+CRDT- 2026/05/29 04:47
+PHST- 2026/02/19 00:00 [received]
+PHST- 2026/04/07 00:00 [revised]
+PHST- 2026/04/23 00:00 [accepted]
+PHST- 2026/05/29 15:44 [medline]
+PHST- 2026/05/29 15:43 [pubmed]
+PHST- 2026/05/29 04:47 [entrez]
+PHST- 2026/05/13 00:00 [pmc-release]
+AID - 10.3389/fnins.2026.1814072 [doi]
+PST - epublish
+SO - Front Neurosci. 2026 May 13;20:1814072. doi: 10.3389/fnins.2026.1814072.
+ eCollection 2026.
+
+PMID- 42160515
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260520
+LR - 20260524
+IS - 2164-554X (Electronic)
+IS - 2164-5515 (Print)
+IS - 2164-5515 (Linking)
+VI - 22
+IP - 1
+DP - 2026 Dec
+TI - Immunotherapeutic landscape of amyotrophic lateral sclerosis: A bibliometric
+ analysis of research trends, translational priorities, and collaboration networks
+ (2006-2025).
+PG - 2664985
+LID - 10.1080/21645515.2026.2664985 [doi]
+LID - 2664985
+AB - Amyotrophic lateral sclerosis (ALS) remains a major therapeutic challenge, with
+ immune dysregulation increasingly recognized as a critical driver of disease
+ progression. Despite extensive mechanistic research, no immunotherapeutic
+ approach has achieved consistent disease-modifying effects, raising questions
+ about whether this translational gap reflects biological complexity or structural
+ misalignment within the research ecosystem. To characterize the intellectual
+ evolution of ALS immunotherapeutics research, identify immune targets with
+ translational potential, and evaluate collaboration patterns that may influence
+ translational efficiency, we performed a bibliometric analysis of 2,256
+ publications indexed in Web of Science and Scopus using network-based approaches
+ including co-citation clustering, keyword co-occurrence, and citation burst
+ detection implemented in CiteSpace, VOSviewer, and R-Bibliometrix. Publication
+ output increased 8.4-fold over the study period, delineating three developmental
+ phases. Thematic analyses revealed a shift from early emphasis on microglial
+ biology and SOD1-based models toward recent focus areas including the gut-brain
+ axis, C9orf72-associated immune dysregulation, and advanced immunomodulatory
+ strategies. Collaboration networks remain predominantly regional despite strong
+ contributions from the United States, Europe, and Asia, with limited integration
+ between mechanistic research groups and clinical trial consortia. Among
+ immune-directed therapeutic strategies, regulatory T cell modulation and
+ microglial-targeted approaches exhibit the highest translational readiness. These
+ findings suggest that the lack of effective ALS immunotherapeutics reflects not
+ only biological complexity but also structural and strategic misalignment within
+ the research ecosystem. This bibliometric analysis provides a systems-level
+ framework to guide more integrated translational strategies in ALS
+ immunotherapeutics development.
+FAU - Zhang, Ming
+AU - Zhang M
+AD - Center for Translational Neurodegeneration and Regenerative Therapy, Tongji
+ Hospital Affiliated to Tongji University School of Medicine, Shanghai, China.
+FAU - Yang, Wenshuo
+AU - Yang W
+AD - Center for Translational Neurodegeneration and Regenerative Therapy, Tongji
+ Hospital Affiliated to Tongji University School of Medicine, Shanghai, China.
+FAU - Wang, Junxin
+AU - Wang J
+AD - Center for Translational Neurodegeneration and Regenerative Therapy, Tongji
+ Hospital Affiliated to Tongji University School of Medicine, Shanghai, China.
+FAU - Zou, Biqi
+AU - Zou B
+AD - Center for Translational Neurodegeneration and Regenerative Therapy, Tongji
+ Hospital Affiliated to Tongji University School of Medicine, Shanghai, China.
+FAU - Zheng, Jialin C
+AU - Zheng JC
+AD - Center for Translational Neurodegeneration and Regenerative Therapy, Tongji
+ Hospital Affiliated to Tongji University School of Medicine, Shanghai, China.
+AD - Shanghai Frontiers Science Center of Nanocatalytic Medicine, Tongji University,
+ Shanghai, China.
+FAU - Wu, Qihui
+AU - Wu Q
+AD - Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation,
+ Clinical Research Center for Anesthesiology and Perioperative Medicine,
+ Translational Research Institute of Brain and Brain-Like Intelligence, Shanghai
+ Fourth People's Hospital Affiliated to Tongji University School of Medicine,
+ Shanghai Research Institute for Intelligent Autonomous Systems, State Key
+ Laboratory of Cardiology and Medical Innovation Center, Shanghai East Hospital,
+ School of Medicine, Tongji University, Shanghai, China.
+FAU - Gao, Ge
+AU - Gao G
+AD - Center for Translational Neurodegeneration and Regenerative Therapy, Tongji
+ Hospital Affiliated to Tongji University School of Medicine, Shanghai, China.
+LA - eng
+PT - Journal Article
+DEP - 20260520
+PL - United States
+TA - Hum Vaccin Immunother
+JT - Human vaccines & immunotherapeutics
+JID - 101572652
+SB - IM
+MH - *Amyotrophic Lateral Sclerosis/therapy/immunology
+MH - Humans
+MH - *Bibliometrics
+MH - *Immunotherapy/methods/trends
+MH - *Translational Research, Biomedical/trends
+MH - Animals
+PMC - PMC13196659
+OTO - NOTNLM
+OT - Amyotrophic lateral sclerosis
+OT - C9orf72 repeat expansion
+OT - clinical translation
+OT - immunotherapeutics
+OT - neuroinflammation
+OT - regulatory T cells
+COIS- No potential conflict of interest was reported by the author(s).
+EDAT- 2026/05/20 18:33
+MHDA- 2026/05/20 18:34
+PMCR- 2026/05/20
+CRDT- 2026/05/20 15:03
+PHST- 2026/05/20 18:34 [medline]
+PHST- 2026/05/20 18:33 [pubmed]
+PHST- 2026/05/20 15:03 [entrez]
+PHST- 2026/05/20 00:00 [pmc-release]
+AID - 2664985 [pii]
+AID - 10.1080/21645515.2026.2664985 [doi]
+PST - ppublish
+SO - Hum Vaccin Immunother. 2026 Dec;22(1):2664985. doi:
+ 10.1080/21645515.2026.2664985. Epub 2026 May 20.
+
+PMID- 42158267
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260520
+LR - 20260520
+IS - 2376-7839 (Print)
+IS - 2376-7839 (Electronic)
+IS - 2376-7839 (Linking)
+VI - 12
+IP - 3
+DP - 2026 Jun
+TI - Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With
+ Late-Onset Behavioral Change.
+PG - e200382
+LID - 10.1212/NXG.0000000000200382 [doi]
+LID - e200382
+AB - BACKGROUND AND OBJECTIVES: The diagnosis of behavioral variant frontotemporal
+ dementia is often difficult because behavioral change has a broad differential
+ diagnosis. Genetic testing may aid in the diagnostic process. We investigated the
+ prevalence of pathogenic genetic variants (PGVs) in individuals referred to our
+ memory clinic with late-onset behavioral change and identified clinical "red
+ flags" for PGV carriership, specifically in diagnostically ambiguous cases.
+ METHODS: Individuals presenting with late-onset behavioral change were included
+ from the Late Onset Frontal Lobe Syndrome study (n = 88), Social Brain Project (n
+ = 265), and Amsterdam Dementia Cohort (n = 349). PGV prevalence was calculated.
+ Among diagnostically ambiguous individuals at baseline, univariate logistic
+ regression models were fitted to identify clinical cues for PGV carriership.
+ Based on these results, we fitted multivariate logistic regression models. We
+ also assessed the association of cortical thickness and subcortical volumes with
+ PGV carriership. RESULTS: Among 702 individuals, 228 received a diagnosis in the
+ frontotemporal lobar degeneration (FTLD) spectrum at baseline and 474 were
+ diagnostically ambiguous. A total of 106 individuals (15%) carried a PGV (20% in
+ FTLD; 13% in ambiguous cases). The most common PGV in both groups was the C9orf72
+ repeat expansion (56% and 57%), followed by microtubule-associated protein tau
+ (13% and 11%) and GRN (11% and 10%). A Huntingtin repeat expansion was found in 5
+ ambiguous cases. In multivariate analyses, PGV carriership was associated with a
+ family history of dementia (OR(FH) [95% CI] 3.1 [1.7-5.5], p < 0.001), younger
+ age (OR(age,10yr) [95% CI] 2.0 [1.4-2.9], p < 0.001), female sex (OR(female) [95%
+ CI] 2.0 [1.1-3.6], p = 0.02), a Frontal Assessment Battery score <13 (OR(FAB)
+ [95% CI] 2.1 [1.1-4.1], p < 0.05), and medial temporal and posterior atrophy
+ (OR(MTA) [95% CI] 3.2 [1.0-10], p < 0.05; OR(PCA) [95% CI] 13 [2.0-81], p <
+ 0.01). In additional MRI analyses, atrophy in the thalamus (standardized beta +/-
+ standard error = -1.26 +/- 0.28), putamen (-1.15 +/- 0.24), and superior parietal
+ cortex (-1.07 +/- 0.22) was most strongly associated with PGV carriership.
+ DISCUSSION: Genetic testing for dementia-associated genes should be considered in
+ all late-onset behavioral change cases. While we propose several clinical cues as
+ "red flags" for PGV carriership, their absence should not preclude genetic
+ counseling. The higher PGV prevalence among diagnostically ambiguous women
+ suggests that FTLD may be underrecognized in women compared with men.
+CI - Copyright (c) 2026 The Author(s). Published by Wolters Kluwer Health, Inc. on
+ behalf of the American Academy of Neurology.
+FAU - Groeneveld, Joan
+AU - Groeneveld J
+AUID- ORCID: 0009-0008-3852-4631
+AD - Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije
+ Universiteit Amsterdam, Amsterdam UMC Location VUmc, the Netherlands.
+AD - Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam
+ UMC, the Netherlands.
+AD - Amsterdam Neuroscience, Neurodegeneration, the Netherlands.
+FAU - de Boer, Sterre C M
+AU - de Boer SCM
+AUID- ORCID: 0000-0002-9595-7221
+AD - Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam
+ UMC, the Netherlands.
+AD - Amsterdam Neuroscience, Neurodegeneration, the Netherlands.
+FAU - Krudop, Welmoed
+AU - Krudop W
+AUID- ORCID: 0009-0000-0221-7471
+AD - Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam
+ UMC, the Netherlands.
+AD - Department of Old Age Psychiatry and Neuropsychiatry, GGZ InGeest Specialised
+ Mental Health Care, Location De Nieuwe Valerius, Amsterdam, the Netherlands.
+AD - Department of Psychiatry, Vrije Universiteit Amsterdam, Amsterdam UMC, the
+ Netherlands.
+FAU - Ozhegov, Georgii
+AU - Ozhegov G
+AUID- ORCID: 0000-0002-0777-6632
+AD - Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije
+ Universiteit Amsterdam, Amsterdam UMC Location VUmc, the Netherlands.
+AD - Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam
+ UMC, the Netherlands.
+AD - Amsterdam Neuroscience, Neurodegeneration, the Netherlands.
+FAU - Hulsman, Marc
+AU - Hulsman M
+AUID- ORCID: 0000-0002-9889-3606
+AD - Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije
+ Universiteit Amsterdam, Amsterdam UMC Location VUmc, the Netherlands.
+AD - Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam
+ UMC, the Netherlands.
+AD - Amsterdam Neuroscience, Neurodegeneration, the Netherlands.
+FAU - Dols, Annemieke
+AU - Dols A
+AUID- ORCID: 0000-0003-1964-0318
+AD - Amsterdam Neuroscience, Mood, Anxiety, Psychosis, Stress and Sleep, the
+ Netherlands.
+AD - Department of Psychiatry, Division Brain, UMC Utrecht, the Netherlands.
+FAU - Kerssens, Cora J
+AU - Kerssens CJ
+AUID- ORCID: 0009-0007-2590-104X
+AD - Department of Old Age Psychiatry and Neuropsychiatry, GGZ InGeest Specialised
+ Mental Health Care, Location De Nieuwe Valerius, Amsterdam, the Netherlands.
+FAU - Schouws, Sigfried
+AU - Schouws S
+AUID- ORCID: 0000-0003-0591-5405
+AD - Department of Old Age Psychiatry and Neuropsychiatry, GGZ InGeest Specialised
+ Mental Health Care, Location De Nieuwe Valerius, Amsterdam, the Netherlands.
+FAU - Barkhof, Frederik
+AU - Barkhof F
+AUID- ORCID: 0000-0003-3543-3706
+AD - Department of Radiology and Nuclear Medicine, Amsterdam UMC, Vrije Universiteit,
+ the Netherlands.
+AD - Queen Square Institute of Neurology and Centre for Medical Image Computing,
+ University College London, United Kingdom.
+FAU - Holstege, Henne
+AU - Holstege H
+AUID- ORCID: 0000-0002-7688-3087
+AD - Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije
+ Universiteit Amsterdam, Amsterdam UMC Location VUmc, the Netherlands.
+AD - VIB Center for Brain and Disease Research, Leuven, Belgium.
+AD - Department of Neurosciences, Leuven Brain Institute, KU Leuven, Belgium; and.
+AD - Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam
+ UMC, the Netherlands.
+AD - Amsterdam Neuroscience, Neurodegeneration, the Netherlands.
+FAU - Pijnenburg, Yolande A L
+AU - Pijnenburg YAL
+AUID- ORCID: 0000-0003-2464-1905
+AD - Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam
+ UMC, the Netherlands.
+AD - Amsterdam Neuroscience, Neurodegeneration, the Netherlands.
+FAU - Van Der Lee, Sven J
+AU - Van Der Lee SJ
+AUID- ORCID: 0000-0003-1606-8643
+AD - Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije
+ Universiteit Amsterdam, Amsterdam UMC Location VUmc, the Netherlands.
+AD - Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam
+ UMC, the Netherlands.
+AD - Amsterdam Neuroscience, Neurodegeneration, the Netherlands.
+FAU - Duits, Flora H
+AU - Duits FH
+AUID- ORCID: 0000-0002-3436-1125
+AD - Neurochemistry Laboratory, Department of Laboratory Medicine, Vrije Universiteit
+ Amsterdam, Amsterdam UMC, the Netherlands.
+AD - Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam
+ UMC, the Netherlands.
+AD - Amsterdam Neuroscience, Neurodegeneration, the Netherlands.
+LA - eng
+PT - Journal Article
+DEP - 20260514
+PL - United States
+TA - Neurol Genet
+JT - Neurology. Genetics
+JID - 101671068
+PMC - PMC13182741
+COIS- J. Groeneveld, S.C.M. de Boer, W. Krudop, G. Ozhegov, M. Hulsman, A. Dols, C.J.
+ Kerssens, and S. Schouws report no disclosures relevant to the manuscript. F.
+ Barkhof serves as a Steering Committee or Data Safety Monitoring Board member for
+ Biogen, Merck, Eisai, and Prothena; an advisory board member for Combinostics,
+ Scottish Brain Sciences, and Alzheimer Europe; and a consultant for Roche,
+ Celltrion, Rewind Therapeutics, Merck, and Bracco. He has research agreements
+ with ADDI, Merck, Biogen, GE Healthcare, and Roche and is a co-founder and
+ shareholder of Queen Square Analytics Ltd. H. Holstege received consultancy fees
+ from Retromer Therapeutics and Muna Therapeutics, and all funding is paid to her
+ institution. Y.A.L. Pijnenburg, S.J. van der Lee, and F.H. Duits report no
+ disclosures relevant to the manuscript. Go to Neurology.org/OA for full
+ disclosures.
+EDAT- 2026/05/20 06:31
+MHDA- 2026/05/20 06:32
+PMCR- 2026/05/14
+CRDT- 2026/05/20 04:38
+PHST- 2025/08/27 00:00 [received]
+PHST- 2026/02/11 00:00 [accepted]
+PHST- 2026/05/20 06:32 [medline]
+PHST- 2026/05/20 06:31 [pubmed]
+PHST- 2026/05/20 04:38 [entrez]
+PHST- 2026/05/14 00:00 [pmc-release]
+AID - NXG-2025-200278 [pii]
+AID - 10.1212/NXG.0000000000200382 [doi]
+PST - epublish
+SO - Neurol Genet. 2026 May 14;12(3):e200382. doi: 10.1212/NXG.0000000000200382.
+ eCollection 2026 Jun.
+
+PMID- 42147445
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260518
+LR - 20260521
+IS - 3117-387X (Print)
+IS - 3117-387X (Electronic)
+IS - 3117-387X (Linking)
+VI - 34
+IP - 2
+DP - 2026 Jun 11
+TI - Arrayed dual-gRNA CRISPR screening platform for C9orf72 repeat expansion excision
+ in patient iPSCs.
+PG - 201741
+LID - 10.1016/j.omta.2026.201741 [doi]
+LID - 201741
+AB - An intronic hexanucleotide repeat expansion in C9orf72 is the leading genetic
+ cause of both frontotemporal dementia and amyotrophic lateral sclerosis
+ (C9-FTD/ALS). We have previously demonstrated that CRISPR-Cas9 excision of the
+ repeat expansion in patient iPSCs reverts pathological hallmarks of C9-FTD/ALS.
+ Here, we aim to identify efficient and safe gRNAs for CRISPR-spCas9 dual-gRNA
+ excision of the C9-repeat expansion. Utilizing novel ddPCR and single-molecule
+ sequencing assays, we screened 120 gRNA pairs, comparing 64 bi-allelic, intronic
+ excisions of the repeat region to 56 allele-specific excisions of the mutant
+ allele in patient iPSCs, ranking them by efficiency. Bi-allelic excisions of the
+ intronic repeat region were more efficient than excisions of the mutant allele.
+ Single gRNA indel rates can nominate likely efficient gRNA pairs, but these pairs
+ must be tested empirically. The length of the repeat expansion did not impact
+ excision efficiency; rather, the activity of individual gRNAs drove excision
+ efficiencies. Using whole genome sequencing and INDUCE-seq, we found only one
+ detectable off-target of those nominated by Cas-OFFinder and CHANGE-seq across 4
+ of the most efficient gRNAs. This study advances the development of targeted
+ therapies for C9-FTD/ALS and establishes a framework for dual-gRNA screening in
+ patient iPSCs applicable to other repeat expansions.
+CI - (c) 2026 The Author(s).
+FAU - Arogundade, Olubankole Aladesuyi
+AU - Arogundade OA
+AD - Weill Institute for Neurosciences, University of California, San Francisco, San
+ Francisco, CA 94158, USA.
+FAU - Lam, Katie Jing Kay
+AU - Lam KJK
+AD - Weill Institute for Neurosciences, University of California, San Francisco, San
+ Francisco, CA 94158, USA.
+FAU - Brown, Katherine A
+AU - Brown KA
+AD - Weill Institute for Neurosciences, University of California, San Francisco, San
+ Francisco, CA 94158, USA.
+FAU - Jain, Tanya
+AU - Jain T
+AD - Weill Institute for Neurosciences, University of California, San Francisco, San
+ Francisco, CA 94158, USA.
+FAU - Issagholian-Lewin, Patrick O
+AU - Issagholian-Lewin PO
+AD - Weill Institute for Neurosciences, University of California, San Francisco, San
+ Francisco, CA 94158, USA.
+FAU - Huang, Cerianne
+AU - Huang C
+AD - Weill Institute for Neurosciences, University of California, San Francisco, San
+ Francisco, CA 94158, USA.
+FAU - Rae-Hudson, Taylor
+AU - Rae-Hudson T
+AD - Innovative Genomics Institute, Berkeley, CA 94720, USA.
+AD - Department of Molecular and Cell Biology, University of California, Berkeley,
+ Berkeley, CA 94720, USA.
+FAU - Briseno, Kevin
+AU - Briseno K
+AD - Innovative Genomics Institute, Berkeley, CA 94720, USA.
+FAU - Wyman, Stacia K
+AU - Wyman SK
+AD - Innovative Genomics Institute, Berkeley, CA 94720, USA.
+FAU - Krishnappa, Netravathi
+AU - Krishnappa N
+AD - Innovative Genomics Institute, Berkeley, CA 94720, USA.
+FAU - George, Christy Ann
+AU - George CA
+AD - Innovative Genomics Institute, Berkeley, CA 94720, USA.
+AD - Department of Molecular and Cell Biology, University of California, Berkeley,
+ Berkeley, CA 94720, USA.
+FAU - O'Dare, Kierney
+AU - O'Dare K
+AD - The School of Medicine, Division of Cancer and Genetics, Cardiff University,
+ Heath Park, Cardiff, Wales CF10 3AT, UK.
+FAU - Wilson, Rosemary H C
+AU - Wilson RHC
+AD - The School of Medicine, Division of Cancer and Genetics, Cardiff University,
+ Heath Park, Cardiff, Wales CF10 3AT, UK.
+FAU - van Eijk, Patrick
+AU - van Eijk P
+AD - The School of Medicine, Division of Cancer and Genetics, Cardiff University,
+ Heath Park, Cardiff, Wales CF10 3AT, UK.
+AD - Broken String Biosciences, Unit AB3-04, Level 3, BioData Innovation Centre,
+ Wellcome Genome Campus, Hinxton, Cambridge, CB10 1DR, UK.
+FAU - Reed, Simon H
+AU - Reed SH
+AD - The School of Medicine, Division of Cancer and Genetics, Cardiff University,
+ Heath Park, Cardiff, Wales CF10 3AT, UK.
+AD - Broken String Biosciences, Unit AB3-04, Level 3, BioData Innovation Centre,
+ Wellcome Genome Campus, Hinxton, Cambridge, CB10 1DR, UK.
+FAU - Giannikopoulos, Petros
+AU - Giannikopoulos P
+AD - Innovative Genomics Institute, Berkeley, CA 94720, USA.
+AD - Department of Laboratory Medicine, University of California, San Francisco, San
+ Francisco, CA 94143, USA.
+FAU - Clelland, Claire D
+AU - Clelland CD
+AD - Weill Institute for Neurosciences, University of California, San Francisco, San
+ Francisco, CA 94158, USA.
+AD - Innovative Genomics Institute, Berkeley, CA 94720, USA.
+AD - Memory & Aging Center, Department of Neurology, University of California, San
+ Francisco, San Francisco, CA 94158, USA.
+LA - eng
+GR - K08 NS112330/NS/NINDS NIH HHS/United States
+GR - U01 NS134062/NS/NINDS NIH HHS/United States
+GR - U19 NS132303/NS/NINDS NIH HHS/United States
+PT - Journal Article
+DEP - 20260420
+PL - United States
+TA - Mol Ther Adv
+JT - Molecular therapy. Advances
+JID - 9919257804006676
+PMC - PMC13175772
+OTO - NOTNLM
+OT - C9orf72
+OT - CRISPR
+OT - allele-specific
+OT - amyotrophic lateral sclerosis, ALS
+OT - arrayed CRISPR gRNA screen
+OT - dementia
+OT - dual-gRNA
+OT - frontotemporal dementia, FTD
+OT - gene therapy
+OT - iPSCs
+OT - motor-neuron disease
+OT - repeat expansion
+COIS- C.D.C. is a founder with equity in Ciznor Co., a gene therapy company. P.G. is a
+ co-founder and director of Need Inc., and a consultant for IMDPath and
+ ResearchDx. S.H.R. and P.v.E. are co-founders of Broken String Biosciences and
+ employed by Broken String Biosciences. S.H.R. received institutional research
+ support from Broken String Biosciences, which also supported R.H.C.W. and K.O.'s
+ positions.
+EDAT- 2026/05/18 12:43
+MHDA- 2026/05/18 12:44
+PMCR- 2026/04/20
+CRDT- 2026/05/18 06:54
+PHST- 2025/08/29 00:00 [received]
+PHST- 2026/04/15 00:00 [accepted]
+PHST- 2026/05/18 12:44 [medline]
+PHST- 2026/05/18 12:43 [pubmed]
+PHST- 2026/05/18 06:54 [entrez]
+PHST- 2026/04/20 00:00 [pmc-release]
+AID - S3117-387X(26)00076-5 [pii]
+AID - 201741 [pii]
+AID - 10.1016/j.omta.2026.201741 [doi]
+PST - epublish
+SO - Mol Ther Adv. 2026 Apr 20;34(2):201741. doi: 10.1016/j.omta.2026.201741.
+ eCollection 2026 Jun 11.
+
+PMID- 42145639
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260518
+LR - 20260518
+DP - 2026 May 4
+TI - The New York Genome Center ALS Consortium resource integrates postmortem tissue
+ transcriptomics and whole genome sequencing to empower biological discovery.
+LID - 2026.04.29.26350889 [pii]
+LID - 10.64898/2026.04.29.26350889 [doi]
+AB - Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease
+ with substantial genetic and clinical heterogeneity that impedes therapeutic
+ development. Large-scale multi-tissue genomic resources have transformed the
+ study of neuropsychiatric and neurodegenerative diseases, but no equivalent
+ resource exists for ALS. Here we present the full NYGC ALS Consortium dataset,
+ combining whole-genome sequencing from 4,746 donors and bulk RNA-seq from 2,574
+ samples across 8 brain and spinal cord regions from 695 donors across the ALS
+ disease spectrum. Our catalogue of small variants, structural variants, and short
+ tandem repeats identified likely pathogenic mutations in 15.6% of ALS cases. Gene
+ expression and mRNA splicing analysis across 5 major tissues reveals shared and
+ region-specific features, highlighting microglial and T-cell dysregulation in the
+ spinal cord. Mapping the genetic regulation of expression and splicing across
+ tissues identified associations with 6 ALS risk loci, whereas allele-specific
+ rare variant analysis detected expression effects for C9orf72 and OPTN . All data
+ are immediately publicly available.
+FAU - Humphrey, Jack
+AU - Humphrey J
+AUID- ORCID: 0000-0002-6274-6620
+FAU - Oku, Ali
+AU - Oku A
+AUID- ORCID: 0009-0004-4934-184X
+FAU - Byrska-Bishop, Marta
+AU - Byrska-Bishop M
+AUID- ORCID: 0000-0002-9118-1032
+FAU - Basile, Anna O
+AU - Basile AO
+AUID- ORCID: 0000-0001-5112-5880
+FAU - Evani, Uday S
+AU - Evani US
+AUID- ORCID: 0009-0002-2057-4514
+FAU - Corvelo, Andre
+AU - Corvelo A
+AUID- ORCID: 0000-0003-0989-7806
+FAU - Tokolyi, Alex
+AU - Tokolyi A
+AUID- ORCID: 0000-0003-4222-7484
+FAU - Bp, Kailash
+AU - Bp K
+AUID- ORCID: 0000-0002-1501-4881
+FAU - Real, Aline
+AU - Real A
+AUID- ORCID: 0000-0002-9437-4411
+FAU - Kim, Yebin
+AU - Kim Y
+AUID- ORCID: 0000-0001-6768-6340
+FAU - Bond, Marielle L
+AU - Bond ML
+AUID- ORCID: 0000-0002-8334-6095
+FAU - Clarke, Wayne E
+AU - Clarke WE
+AUID- ORCID: 0000-0003-2471-0712
+FAU - Fu, Rui
+AU - Fu R
+AUID- ORCID: 0000-0001-8183-4549
+FAU - Geiger, Heather
+AU - Geiger H
+AUID- ORCID: 0000-0002-4162-3082
+FAU - Chang, Sei
+AU - Chang S
+AUID- ORCID: 0000-0003-4610-1280
+FAU - Naito, Tatsuhiko
+AU - Naito T
+AUID- ORCID: 0000-0002-2779-4600
+FAU - Jang, Beomjin
+AU - Jang B
+AUID- ORCID: 0009-0008-9056-1480
+FAU - Musunuri, Rajeeva
+AU - Musunuri R
+AUID- ORCID: 0000-0001-5671-1766
+FAU - Dredge, Winston H
+AU - Dredge WH
+AUID- ORCID: 0000-0001-7897-3185
+FAU - Al-Abri, Rashid
+AU - Al-Abri R
+AUID- ORCID: 0000-0002-5194-8454
+FAU - Hoover, Benjamin N
+AU - Hoover BN
+FAU - Manaa, Dina
+AU - Manaa D
+AUID- ORCID: 0009-0008-9361-7056
+FAU - McClintock, Jaime
+AU - McClintock J
+AUID- ORCID: 0009-0000-8915-5399
+FAU - Singh, Faith P
+AU - Singh FP
+AUID- ORCID: 0009-0009-0445-533X
+FAU - Pedersen, Maria H
+AU - Pedersen MH
+AUID- ORCID: 0000-0003-0034-5837
+FAU - Runnels, Alexi
+AU - Runnels A
+AUID- ORCID: 0000-0002-8592-1444
+FAU - Propp, Nadia
+AU - Propp N
+AUID- ORCID: 0009-0009-5057-126X
+FAU - Fennessey, Samantha
+AU - Fennessey S
+AUID- ORCID: 0000-0001-7795-6439
+FAU - Won, Hong-Hee
+AU - Won HH
+AUID- ORCID: 0000-0001-5719-0552
+FAU - Zody, Michael C
+AU - Zody MC
+AUID- ORCID: 0000-0001-6594-7199
+FAU - Narzisi, Giuseppe
+AU - Narzisi G
+AUID- ORCID: 0000-0003-1118-8849
+FAU - Robine, Nicolas
+AU - Robine N
+AUID- ORCID: 0000-0001-5698-8183
+FAU - Lappalainen, Tuuli
+AU - Lappalainen T
+AUID- ORCID: 0000-0002-7746-8109
+FAU - Fagegaltier, Delphine
+AU - Fagegaltier D
+AUID- ORCID: 0000-0001-9154-6786
+FAU - Gursoy, Gamze
+AU - Gursoy G
+AUID- ORCID: 0000-0002-1352-8686
+FAU - Knowles, David A
+AU - Knowles DA
+AUID- ORCID: 0000-0002-7408-146X
+FAU - Raj, Towfique
+AU - Raj T
+AUID- ORCID: 0000-0002-9355-5704
+CN - NYGC ALS Consortium
+FAU - Harms, Matthew B
+AU - Harms MB
+AUID- ORCID: 0000-0002-3395-1633
+FAU - Phatnani, Hemali
+AU - Phatnani H
+AUID- ORCID: 0000-0002-6571-3891
+LA - eng
+PT - Journal Article
+PT - Preprint
+DEP - 20260504
+PL - United States
+TA - medRxiv
+JT - medRxiv : the preprint server for health sciences
+JID - 101767986
+PMC - PMC13174709
+EDAT- 2026/05/18 12:42
+MHDA- 2026/05/18 12:43
+PMCR- 2026/05/14
+CRDT- 2026/05/18 06:36
+PHST- 2026/05/18 12:43 [medline]
+PHST- 2026/05/18 12:42 [pubmed]
+PHST- 2026/05/18 06:36 [entrez]
+PHST- 2026/05/14 00:00 [pmc-release]
+AID - 2026.04.29.26350889 [pii]
+AID - 10.64898/2026.04.29.26350889 [doi]
+PST - epublish
+SO - medRxiv [Preprint]. 2026 May 4:2026.04.29.26350889. doi:
+ 10.64898/2026.04.29.26350889.
+
+PMID- 42135512
+OWN - NLM
+STAT- Publisher
+LR - 20260514
+IS - 1546-1726 (Electronic)
+IS - 1097-6256 (Linking)
+DP - 2026 May 14
+TI - Integrated single-cell and spatial transcriptomic profiling in ALS uncovers
+ peripheral-to-central immune infiltration and reprogramming.
+LID - 10.1038/s41593-026-02300-5 [doi]
+AB - Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder marked
+ by progressive motor neuron (MN) degeneration in the brain and spinal cord.
+ Although neuroinflammation is increasingly recognized as a hallmark of ALS, the
+ precise molecular programs linking immune responses to MN pathology remain poorly
+ defined. Using an integrated approach that combines single-cell and bulk RNA
+ sequencing with spatial proteogenomics, we characterized both shared and distinct
+ immune dynamics in peripheral blood and spinal cord tissues from patients with
+ sporadic ALS and those carrying C9orf72 repeat expansions. Our analysis revealed
+ broad immune remodeling in C9orf72 ALS, ALS subtype-specific and
+ progression-associated differences in monocyte activation and antigen-experienced
+ CD8 effector memory T cells with clonal features consistent with antigen-driven
+ responses. Spatial mapping revealed complement activation and lipid-programmed
+ myeloid states converging at sites of MN loss and TDP-43 pathology. Together,
+ these findings connect peripheral and central immune alterations to ALS
+ heterogeneity and highlight stratified immunomodulation as a potential
+ therapeutic strategy.
+CI - (c) 2026. The Author(s).
+FAU - Zhang, Ziyang
+AU - Zhang Z
+AD - Abrams Research Center on Neurogenomics, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+AD - The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+FAU - van Olst, Lynn
+AU - van Olst L
+AUID- ORCID: 0000-0001-7569-0470
+AD - Abrams Research Center on Neurogenomics, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+AD - The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+FAU - Alessandrini, Francesco
+AU - Alessandrini F
+AD - The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+FAU - Wright, Matthew
+AU - Wright M
+AUID- ORCID: 0000-0002-6634-934X
+AD - The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+FAU - Edwards, Alex J
+AU - Edwards AJ
+AD - Abrams Research Center on Neurogenomics, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+AD - The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+FAU - Boles, Jake
+AU - Boles J
+AUID- ORCID: 0000-0001-5501-2162
+AD - Abrams Research Center on Neurogenomics, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+AD - The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+FAU - Nalbandian, Anait
+AU - Nalbandian A
+AUID- ORCID: 0009-0001-9126-6239
+AD - Abrams Research Center on Neurogenomics, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+AD - The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+FAU - Forsyth, Anne V
+AU - Forsyth AV
+AD - Abrams Research Center on Neurogenomics, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+AD - The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+FAU - Shepard, Nate
+AU - Shepard N
+AUID- ORCID: 0000-0002-8629-3152
+AD - The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+FAU - Watson, Thomas
+AU - Watson T
+AD - Abrams Research Center on Neurogenomics, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+AD - The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+FAU - Kaspi, Evan
+AU - Kaspi E
+AD - The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+FAU - Mittal, Angeli
+AU - Mittal A
+AUID- ORCID: 0000-0002-3449-645X
+AD - The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+FAU - Kuruvilla, Joshua
+AU - Kuruvilla J
+AD - Abrams Research Center on Neurogenomics, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+AD - The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+FAU - Piehl, Natalie
+AU - Piehl N
+AD - Abrams Research Center on Neurogenomics, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+AD - The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+FAU - Ramakrishnan, Abhirami
+AU - Ramakrishnan A
+AUID- ORCID: 0000-0001-8116-3685
+AD - Abrams Research Center on Neurogenomics, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+AD - The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA.
+FAU - Appel, Stanley
+AU - Appel S
+AUID- ORCID: 0000-0003-2747-6298
+AD - Houston Methodist Neurological Institute, Houston Methodist Research Institute,
+ Stanley H. Appel Department of Neurology, Houston Methodist Hospital, Houston,
+ TX, USA.
+FAU - Kiskinis, Evangelos
+AU - Kiskinis E
+AUID- ORCID: 0000-0001-8342-8616
+AD - The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA. evangelos.kiskinis@northwestern.edu.
+FAU - Gate, David
+AU - Gate D
+AUID- ORCID: 0000-0003-0481-9657
+AD - Abrams Research Center on Neurogenomics, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA. dgate@northwestern.edu.
+AD - The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine,
+ Northwestern University, Chicago, IL, USA. dgate@northwestern.edu.
+LA - eng
+GR - R01AG078713/U.S. Department of Health & Human Services | National Institutes of
+ Health (NIH)/
+PT - Journal Article
+DEP - 20260514
+PL - United States
+TA - Nat Neurosci
+JT - Nature neuroscience
+JID - 9809671
+SB - IM
+COIS- Competing interests: E. Kiskinis is an academic cofounder of NuCyRNA Therapeutics
+ and SAB member of Axion Biosystems, ResQ Biotech, Synapticure, Live Like Lou
+ Foundation and Packard Foundation. D.G. has been a consultant/advisor for Merck
+ related to anti-inflammatory therapy for ALS. Named companies and foundations
+ were not involved in this project. The other authors declare no competing
+ interests.
+EDAT- 2026/05/15 00:31
+MHDA- 2026/05/15 00:31
+CRDT- 2026/05/14 23:20
+PHST- 2025/10/07 00:00 [received]
+PHST- 2026/04/14 00:00 [accepted]
+PHST- 2026/05/15 00:31 [medline]
+PHST- 2026/05/15 00:31 [pubmed]
+PHST- 2026/05/14 23:20 [entrez]
+AID - 10.1038/s41593-026-02300-5 [pii]
+AID - 10.1038/s41593-026-02300-5 [doi]
+PST - aheadofprint
+SO - Nat Neurosci. 2026 May 14. doi: 10.1038/s41593-026-02300-5.
+
+PMID- 42095061
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260507
+LR - 20260507
+IS - 1663-4365 (Print)
+IS - 1663-4365 (Electronic)
+IS - 1663-4365 (Linking)
+VI - 18
+DP - 2026
+TI - Systematic proteomics reveals plasma NEFL as a robust predictor and pathological
+ associate in C9ORF72-related neurodegeneration.
+PG - 1792887
+LID - 10.3389/fnagi.2026.1792887 [doi]
+LID - 1792887
+AB - BACKGROUND: The C9ORF72 repeat expansion is the most common genetic cause of
+ amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). While
+ neurofilament light chain (NEFL) is an established biomarker of neuroaxonal
+ damage, its specific dose-response relationship with the C9ORF72 expansion and
+ its potential role beyond a passive bystander require systematic investigation.
+ We performed a proteome-wide screen to identify plasma proteins linked to the
+ C9ORF72 expansion and evaluated their predictive value for motor neuron disease
+ (MND). METHODS: We utilized whole-genome sequencing and plasma proteomics from
+ the UK Biobank, analyzing 106 individuals with C9ORF72 expansions (defined as >30
+ repeats) and 212 age- and sex-matched controls. We screened ~3,000 proteins for
+ associations with the continuous repeat count. The top candidate was evaluated
+ using restricted cubic splines (RCS) to assess non-linearity and threshold
+ effects. Its ability to independently predict MND risk was tested using
+ regression models and a machine learning approach. RESULTS: Our unbiased screen
+ identified NEFL as the sole protein significantly associated with the C9ORF72
+ repeat count (FDR-adjusted P = 8.39 x 10(-4)). NEFL levels demonstrated a
+ step-wise increase with expansion size, which followed a stable linear trajectory
+ across the repeat spectrum (P (non - linear) = 0.4435). Elevated NEFL
+ independently predicted MND risk (OR = 2.42; HR = 2.90), even after adjusting for
+ the C9ORF72 repeat count. Our predictive model, combining NEFL and repeat count,
+ achieved an AUC of 0.941 with 100% sensitivity. These findings align with
+ emerging evidence that secreted NEFL may actively modulate neuroinflammation.
+ CONCLUSIONS: NEFL emerges as a robust and specific plasma biomarker for
+ C9ORF72-related neurodegeneration. Its strong linear association with repeat
+ burden and independent predictive power, contextualized within its potential role
+ in immune activation, suggest that NEFL is deeply integrated into the C9ORF72
+ pathological landscape. These findings support NEFL-based screening and
+ monitoring strategies for early intervention in C9ORF72 carriers.
+CI - Copyright (c) 2026 Hu, Wan, Yan, Fan and Liu.
+FAU - Hu, Zhen
+AU - Hu Z
+AD - Department of Neurology, Ruijin Hospital Luwan Branch, Shanghai Jiao Tong
+ University School of Medicine, Shanghai, China.
+AD - Department of Neurology and Institute of Neurology, Ruijin Hospital, Shanghai
+ Jiao Tong University School of Medicine, Shanghai, China.
+FAU - Wan, Jing-Jin
+AU - Wan JJ
+AD - Department of Surgery, Renji Hospital, Shanghai Jiao Tong University School of
+ Medicine, Shanghai, China.
+FAU - Yan, Qin-Qin
+AU - Yan QQ
+AD - Department of Radiology, Ruijin Hospital, Shanghai Jiao Tong University School of
+ Medicine, Shanghai, China.
+FAU - Fan, Yu
+AU - Fan Y
+AD - Department of Neurology and Institute of Neurology, Ruijin Hospital, Shanghai
+ Jiao Tong University School of Medicine, Shanghai, China.
+FAU - Liu, Jun
+AU - Liu J
+AD - Department of Neurology and Institute of Neurology, Ruijin Hospital, Shanghai
+ Jiao Tong University School of Medicine, Shanghai, China.
+LA - eng
+PT - Journal Article
+DEP - 20260421
+PL - Switzerland
+TA - Front Aging Neurosci
+JT - Frontiers in aging neuroscience
+JID - 101525824
+PMC - PMC13139100
+OTO - NOTNLM
+OT - C9ORF72
+OT - NEFL
+OT - motor neuron disease (MND)
+OT - neurodegeneration
+OT - repeat expansion
+COIS- The author(s) declared that this work was conducted in the absence of any
+ commercial or financial relationships that could be construed as a potential
+ conflict of interest.
+EDAT- 2026/05/07 06:37
+MHDA- 2026/05/07 06:38
+PMCR- 2026/04/21
+CRDT- 2026/05/07 05:20
+PHST- 2026/01/21 00:00 [received]
+PHST- 2026/03/18 00:00 [revised]
+PHST- 2026/03/31 00:00 [accepted]
+PHST- 2026/05/07 06:38 [medline]
+PHST- 2026/05/07 06:37 [pubmed]
+PHST- 2026/05/07 05:20 [entrez]
+PHST- 2026/04/21 00:00 [pmc-release]
+AID - 10.3389/fnagi.2026.1792887 [doi]
+PST - epublish
+SO - Front Aging Neurosci. 2026 Apr 21;18:1792887. doi: 10.3389/fnagi.2026.1792887.
+ eCollection 2026.
+
+PMID- 42087256
+OWN - NLM
+STAT- Publisher
+LR - 20260505
+IS - 2051-5960 (Electronic)
+IS - 2051-5960 (Linking)
+DP - 2026 May 5
+TI - Targeting the integrated stress response or Ataxin-2 alleviates neurodegeneration
+ in PolyGR models of C9orf72 associated frontotemporal dementia and amyotrophic
+ lateral sclerosis.
+LID - 10.1186/s40478-026-02301-2 [doi]
+AB - Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal,
+ early-onset neurodegenerative diseases. The most common genetic cause of FTD and
+ ALS is a G4C2 hexanucleotide repeat expansion in the C9orf72 gene. This mutation
+ leads to the production of toxic dipeptide repeat proteins (DPRs), via
+ repeat-associated non-AUG (RAN) translation. These DPRs disrupt stress granule
+ (SG) dynamics, with SG regulators such as Ataxin-2 (ATXN2) implicated in disease
+ risk. The integrated stress response (ISR), a key driver of SG formation via
+ eIF2alpha phosphorylation, has been linked to C9orf72 expansions, but the role of
+ individual DPRs in ISR activation remains unclear. Here, using Drosophila models
+ expressing physiologically relevant repeat length DPRs, we identify poly(GR) as a
+ novel activator of the ISR, inducing early and sustained eIF2alpha phosphorylation
+ and SG accumulation prior to motor decline. Genetic inhibition of the ISR or
+ knockdown of ATX2, the Drosophila orthologue of ATXN2, rescues motor deficits in
+ these models. ATXN2 knockdown also reduces poly(GR) toxicity in mouse primary
+ neurons. These findings position poly(GR) as a key driver of ISR activation and
+ highlight ATXN2 and the ISR as promising therapeutic targets in
+ C9orf72-associated FTD/ALS.
+CI - (c) 2026. The Author(s).
+FAU - Harper, Nikki S
+AU - Harper NS
+AD - Division of Neuroscience and Experimental Psychology, Faculty of Biology,
+ Medicine and Health, University of Manchester, Manchester, UK.
+FAU - Sharpe, Joanne L
+AU - Sharpe JL
+AD - Sheffield Institute for Translational Neuroscience (SITraN), University of
+ Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK.
+AD - Neuroscience Institute, University of Sheffield, Sheffield, S10 2TN, UK.
+FAU - Speranza, Jasmine
+AU - Speranza J
+AD - Sheffield Institute for Translational Neuroscience (SITraN), University of
+ Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK.
+AD - Neuroscience Institute, University of Sheffield, Sheffield, S10 2TN, UK.
+FAU - Gulia, Ravinder
+AU - Gulia R
+AD - Department of Pathology and Laboratory Medicine, University of California,
+ Irvine, Irvine, CA, 92617, USA.
+FAU - Chen, Jeffrey X
+AU - Chen JX
+AD - Department of Pathology and Laboratory Medicine, University of California,
+ Irvine, Irvine, CA, 92617, USA.
+FAU - Allen, Scott P
+AU - Allen SP
+AD - Sheffield Institute for Translational Neuroscience (SITraN), University of
+ Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK.
+AD - Neuroscience Institute, University of Sheffield, Sheffield, S10 2TN, UK.
+FAU - Atwal, Manpreet S
+AU - Atwal MS
+AD - Sheffield Institute for Translational Neuroscience (SITraN), University of
+ Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK.
+AD - Neuroscience Institute, University of Sheffield, Sheffield, S10 2TN, UK.
+FAU - Pickering-Brown, Stuart
+AU - Pickering-Brown S
+AD - Division of Neuroscience and Experimental Psychology, Faculty of Biology,
+ Medicine and Health, University of Manchester, Manchester, UK.
+FAU - Livesey, Matthew R
+AU - Livesey MR
+AD - Sheffield Institute for Translational Neuroscience (SITraN), University of
+ Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK.
+AD - Neuroscience Institute, University of Sheffield, Sheffield, S10 2TN, UK.
+FAU - Bennett, Craig L
+AU - Bennett CL
+AD - Department of Pathology and Laboratory Medicine, University of California,
+ Irvine, Irvine, CA, 92617, USA.
+AD - UCI Center for Neurotherapeutics, University of California, Irvine, Irvine, CA,
+ 92697, USA.
+FAU - Prokop, Andreas
+AU - Prokop A
+AD - Division of Molecular and Cellular Function, Faculty of Biology, Medicine and
+ Health, The University of Manchester, Manchester, UK.
+FAU - La Spada, Albert R
+AU - La Spada AR
+AD - Department of Pathology and Laboratory Medicine, University of California,
+ Irvine, Irvine, CA, 92617, USA.
+AD - UCI Center for Neurotherapeutics, University of California, Irvine, Irvine, CA,
+ 92697, USA.
+AD - Department of Biological Chemistry, University of California, Irvine, Irvine, CA,
+ 92617, USA.
+AD - Department of Neurology, University of California, Irvine, Irvine, CA, 92617,
+ USA.
+AD - Department of Neurobiology and Behavior, University of California, Irvine,
+ Irvine, CA, 92697, USA.
+FAU - West, Ryan J H
+AU - West RJH
+AD - Sheffield Institute for Translational Neuroscience (SITraN), University of
+ Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK. r.j.west@sheffield.ac.uk.
+AD - Neuroscience Institute, University of Sheffield, Sheffield, S10 2TN, UK.
+ r.j.west@sheffield.ac.uk.
+LA - eng
+GR - 630/Alzheimer's Society and The Heather Corrie Impact Fund/
+GR - Livesey/Oct20/900-792/MNDA_/Motor Neurone Disease Association/United Kingdom
+GR - Livesey/Oct20/900-792/MNDA_/Motor Neurone Disease Association/United Kingdom
+GR - NIH R35 NS122140/National Institutes of Health (NIH)/
+GR - NIH R35 NS122140/National Institutes of Health (NIH)/
+GR - 510/ALZS_/Alzheimer's Society/United Kingdom
+PT - Journal Article
+DEP - 20260505
+PL - England
+TA - Acta Neuropathol Commun
+JT - Acta neuropathologica communications
+JID - 101610673
+SB - IM
+OTO - NOTNLM
+OT - Drosophila
+OT - Amyotrophic lateral sclerosis
+OT - Ataxin-2
+OT - C9orf72
+OT - Frontotemporal dementia
+OT - Integrated stress response
+OT - Motor neurone disease
+OT - Stress granules
+COIS- Declarations. Ethics approval and consent to participate: Not applicable. Consent
+ for publication: Not applicable. Competing interests: The authors declare no
+ competing interests.
+EDAT- 2026/05/06 00:33
+MHDA- 2026/05/06 00:33
+CRDT- 2026/05/05 23:55
+PHST- 2025/06/19 00:00 [received]
+PHST- 2026/04/17 00:00 [accepted]
+PHST- 2026/05/06 00:33 [medline]
+PHST- 2026/05/06 00:33 [pubmed]
+PHST- 2026/05/05 23:55 [entrez]
+AID - 10.1186/s40478-026-02301-2 [pii]
+AID - 10.1186/s40478-026-02301-2 [doi]
+PST - aheadofprint
+SO - Acta Neuropathol Commun. 2026 May 5. doi: 10.1186/s40478-026-02301-2.
+
PMID- 42033225
OWN - NLM
STAT- MEDLINE
@@ -272,8 +1624,8 @@ SO - Acta Neuropathol. 2026 Apr 17;151(1):40. doi: 10.1007/s00401-026-03007-4.
PMID- 41993388
OWN - NLM
STAT- PubMed-not-MEDLINE
-DCOM- 20260417
-LR - 20260417
+DCOM- 20260506
+LR - 20260506
IS - 2692-8205 (Electronic)
IS - 2692-8205 (Linking)
DP - 2026 Apr 15
@@ -298,15 +1650,28 @@ AB - Repeat expansions of the hexanucleotide GGGGCC in C9orf72 form aberrant ph
FAU - Sahoo, Bikash R
AU - Sahoo BR
AUID- ORCID: 0000-0002-3683-1178
+AD - Howard Hughes Medical Institute.
+AD - Department of Molecular, Cellular and Developmental Biology, University of
+ Michigan, Ann Arbor, MI, USA.
FAU - Bhattrai, Janakraj
AU - Bhattrai J
+AD - Department of Molecular, Cellular and Developmental Biology, University of
+ Michigan, Ann Arbor, MI, USA.
FAU - Sharma, Arnav
AU - Sharma A
+AD - Howard Hughes Medical Institute.
+AD - Department of Molecular, Cellular and Developmental Biology, University of
+ Michigan, Ann Arbor, MI, USA.
FAU - Jakob, Ursula
AU - Jakob U
+AD - Department of Molecular, Cellular and Developmental Biology, University of
+ Michigan, Ann Arbor, MI, USA.
FAU - Bardwell, James Ca
AU - Bardwell JC
AUID- ORCID: 0000-0003-1683-1944
+AD - Howard Hughes Medical Institute.
+AD - Department of Molecular, Cellular and Developmental Biology, University of
+ Michigan, Ann Arbor, MI, USA.
LA - eng
PT - Journal Article
PT - Preprint
@@ -320,8 +1685,8 @@ EDAT- 2026/04/17 13:25
MHDA- 2026/04/17 13:26
PMCR- 2026/04/15
CRDT- 2026/04/17 05:20
-PHST- 2026/04/17 13:26 [medline]
PHST- 2026/04/17 13:25 [pubmed]
+PHST- 2026/04/17 13:26 [medline]
PHST- 2026/04/17 05:20 [entrez]
PHST- 2026/04/15 00:00 [pmc-release]
AID - 2026.04.10.717804 [pii]
@@ -332,14 +1697,19 @@ SO - bioRxiv [Preprint]. 2026 Apr 15:2026.04.10.717804. doi:
PMID- 41987036
OWN - NLM
-STAT- Publisher
-LR - 20260416
+STAT- MEDLINE
+DCOM- 20260527
+LR - 20260529
IS - 1528-3658 (Electronic)
+IS - 1076-1551 (Print)
IS - 1076-1551 (Linking)
+VI - 32
+IP - 1
DP - 2026 Apr 15
TI - Genetic epidemiology of C9orf72 repeat expansion associated amyotrophic lateral
sclerosis in Hungary.
LID - 10.1186/s10020-026-01465-w [doi]
+LID - 81
AB - BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative
disorder characterized by progressive motor neuron loss. The most common genetic
cause of ALS is the hexanucleotide repeat expansion in the C9orf72 gene, which is
@@ -436,7 +1806,23 @@ PL - England
TA - Mol Med
JT - Molecular medicine (Cambridge, Mass.)
JID - 9501023
+RN - 0 (C9orf72 Protein)
+RN - 0 (C9orf72 protein, human)
SB - IM
+MH - Humans
+MH - *Amyotrophic Lateral Sclerosis/genetics/epidemiology/diagnosis
+MH - *C9orf72 Protein/genetics
+MH - Hungary/epidemiology
+MH - *DNA Repeat Expansion
+MH - Female
+MH - Male
+MH - Middle Aged
+MH - Aged
+MH - Genetic Predisposition to Disease
+MH - Disease Progression
+MH - Adult
+MH - Retrospective Studies
+PMC - PMC13214164
OTO - NOTNLM
OT - ALS
OT - Amyotrophic lateral sclerosis
@@ -449,27 +1835,35 @@ COIS- Declarations. Ethics approval and consent to participate: All participants
publication: All authors read the manuscript fully and consented to its
publication. Competing interests: The authors declare no competing interests.
EDAT- 2026/04/16 13:09
-MHDA- 2026/04/16 13:09
+MHDA- 2026/05/27 06:41
+PMCR- 2026/04/15
CRDT- 2026/04/16 01:02
PHST- 2026/01/25 00:00 [received]
PHST- 2026/03/18 00:00 [accepted]
-PHST- 2026/04/16 13:09 [medline]
+PHST- 2026/05/27 06:41 [medline]
PHST- 2026/04/16 13:09 [pubmed]
PHST- 2026/04/16 01:02 [entrez]
+PHST- 2026/04/15 00:00 [pmc-release]
AID - 10.1186/s10020-026-01465-w [pii]
+AID - 1465 [pii]
AID - 10.1186/s10020-026-01465-w [doi]
-PST - aheadofprint
-SO - Mol Med. 2026 Apr 15. doi: 10.1186/s10020-026-01465-w.
+PST - epublish
+SO - Mol Med. 2026 Apr 15;32(1):81. doi: 10.1186/s10020-026-01465-w.
PMID- 41986690
OWN - NLM
-STAT- Publisher
-LR - 20260429
+STAT- MEDLINE
+DCOM- 20260514
+LR - 20260517
IS - 1546-1718 (Electronic)
+IS - 1061-4036 (Print)
IS - 1061-4036 (Linking)
-DP - 2026 Apr 15
+VI - 58
+IP - 5
+DP - 2026 May
TI - Somatic mosaicism in ALS and FTD identifies focal mutations associated with
widespread degeneration.
+PG - 1019-1029
LID - 10.1038/s41588-026-02570-6 [doi]
AB - Although mutations in many genes cause familial amyotrophic lateral sclerosis
(ALS) and frontotemporal dementia (FTD), most cases are sporadic (sALS and sFTD)
@@ -620,24 +2014,45 @@ AD - Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
AD - Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.
christopher.walsh@childrens.harvard.edu.
LA - eng
-GR - R01 AG070921/AG/NIA NIH HHS/United States
+GR - R01 NS032457/NS/NINDS NIH HHS/United States
GR - R56 AG079857/AG/NIA NIH HHS/United States
+GR - UH3 NS132138/NS/NINDS NIH HHS/United States
GR - W81XWH2010028/U.S. Department of Defense (United States Department of Defense)/
-GR - K01 AG051791/AG/NIA NIH HHS/United States
GR - DP2 AG072437/AG/NIA NIH HHS/United States
GR - 23CDA1046074/American Heart Association (American Heart Association, Inc.)/
-GR - R01 AG088082/AG/NIA NIH HHS/United States
+GR - K08 AG065502/AG/NIA NIH HHS/United States
+GR - K01 AG051791/AG/NIA NIH HHS/United States
GR - RS-2025-02215360/National Research Foundation of Korea (NRF)/
GR - RS-2023-00217881/National Research Foundation of Korea (NRF)/
-GR - R01 NS032457/NS/NINDS NIH HHS/United States
-GR - K08 AG065502/AG/NIA NIH HHS/United States
+GR - R01 AG070921/AG/NIA NIH HHS/United States
+GR - UG3 NS132138/NS/NINDS NIH HHS/United States
+GR - R01 AG088082/AG/NIA NIH HHS/United States
PT - Journal Article
DEP - 20260415
PL - United States
TA - Nat Genet
JT - Nature genetics
JID - 9216904
+RN - 0 (C9orf72 Protein)
+RN - 0 (C9orf72 protein, human)
+RN - EC 3.6.4.2 (Cytoplasmic Dyneins)
SB - IM
+MH - Humans
+MH - *Amyotrophic Lateral Sclerosis/genetics/pathology
+MH - *Frontotemporal Dementia/genetics/pathology
+MH - *Mosaicism
+MH - *Mutation/genetics
+MH - Female
+MH - C9orf72 Protein/genetics
+MH - Male
+MH - Middle Aged
+MH - Aged
+MH - Cytoplasmic Dyneins/genetics
+MH - Genetic Predisposition to Disease
+MH - DNA Repeat Expansion
+MH - High-Throughput Nucleotide Sequencing
+MH - Brain/pathology/metabolism
+PMC - PMC13175891
COIS- Competing interests: C.L.-T. serves on the scientific advisory board and/or has
received consulting fees from SOLA Biosciences, Libra Therapeutics, Arbor
Biotechnologies, Dewpoint Therapeutics, Mitsubishi Tanabe Pharma Holdings
@@ -650,17 +2065,21 @@ COIS- Competing interests: C.L.-T. serves on the scientific advisory board and/o
role in its conception or execution. The other authors declare no competing
interests.
EDAT- 2026/04/16 07:09
-MHDA- 2026/04/16 07:09
+MHDA- 2026/05/15 00:31
+PMCR- 2026/04/15
CRDT- 2026/04/15 23:37
PHST- 2023/11/07 00:00 [received]
PHST- 2026/03/11 00:00 [accepted]
+PHST- 2026/05/15 00:31 [medline]
PHST- 2026/04/16 07:09 [pubmed]
-PHST- 2026/04/16 07:09 [medline]
PHST- 2026/04/15 23:37 [entrez]
+PHST- 2026/04/15 00:00 [pmc-release]
AID - 10.1038/s41588-026-02570-6 [pii]
+AID - 2570 [pii]
AID - 10.1038/s41588-026-02570-6 [doi]
-PST - aheadofprint
-SO - Nat Genet. 2026 Apr 15. doi: 10.1038/s41588-026-02570-6.
+PST - ppublish
+SO - Nat Genet. 2026 May;58(5):1019-1029. doi: 10.1038/s41588-026-02570-6. Epub 2026
+ Apr 15.
PMID- 41961863
OWN - NLM
@@ -963,12 +2382,17 @@ SO - NPJ Genom Med. 2026 Apr 9. doi: 10.1038/s41525-026-00567-y.
PMID- 41951733
OWN - NLM
-STAT- Publisher
-LR - 20260421
+STAT- MEDLINE
+DCOM- 20260521
+LR - 20260523
IS - 1476-4687 (Electronic)
+IS - 0028-0836 (Print)
IS - 0028-0836 (Linking)
-DP - 2026 Apr 8
+VI - 653
+IP - 8115
+DP - 2026 May
TI - Population-scale repeat expansions elucidate disease risk and brain atrophy.
+PG - 796-808
LID - 10.1038/s41586-026-10345-6 [doi]
AB - Pathogenic expansions of short tandem repeats (STRs) cause over 70 neurological
diseases(1-3). Here we performed a population-scale survey of pathogenic repeat
@@ -1104,7 +2528,32 @@ PL - England
TA - Nature
JT - Nature
JID - 0410462
+RN - 0 (C9orf72 Protein)
+RN - 0 (C9orf72 protein, human)
+RN - 0 (DMPK protein, human)
+RN - 0 (HTT protein, human)
+RN - 0 (Huntingtin Protein)
+RN - 0 (neurofilament protein L)
+RN - 0 (Neurofilament Proteins)
+RN - EC 2.7.11.1 (Myotonin-Protein Kinase)
SB - IM
+MH - Female
+MH - Humans
+MH - Male
+MH - Middle Aged
+MH - Atrophy/genetics
+MH - *Brain/pathology
+MH - C9orf72 Protein/genetics
+MH - Cerebellum/pathology
+MH - *DNA Repeat Expansion
+MH - *Genetic Predisposition to Disease/genetics
+MH - Huntingtin Protein/genetics
+MH - Huntington Disease/genetics/pathology
+MH - *Microsatellite Repeats
+MH - Neurofilament Proteins/metabolism
+MH - Organ Size
+MH - Myotonin-Protein Kinase
+PMC - PMC13190288
COIS- Competing interests: V.K.P., J.H.S., J.H., S.O., V.R., X.B., M.D.K., K.L., X.Z.,
S.Y., L.Z., M.G.L., J.R.-V, F.G., S.W., S.S., F.S., E.A.S., Y.H., M.A., S.C.,
W.S., J.O., J.M., J.R., G.R.A., L.L., A.B., G.C. and S.G. are current employees
@@ -1628,17 +3077,21 @@ IR - Pagan M
FIR - Siceron, Sunilbe
IR - Siceron S
EDAT- 2026/04/09 00:34
-MHDA- 2026/04/09 00:34
+MHDA- 2026/05/21 06:32
+PMCR- 2026/04/08
CRDT- 2026/04/08 23:21
PHST- 2025/05/16 00:00 [received]
PHST- 2026/03/02 00:00 [accepted]
+PHST- 2026/05/21 06:32 [medline]
PHST- 2026/04/09 00:34 [pubmed]
-PHST- 2026/04/09 00:34 [medline]
PHST- 2026/04/08 23:21 [entrez]
+PHST- 2026/04/08 00:00 [pmc-release]
AID - 10.1038/s41586-026-10345-6 [pii]
+AID - 10345 [pii]
AID - 10.1038/s41586-026-10345-6 [doi]
-PST - aheadofprint
-SO - Nature. 2026 Apr 8. doi: 10.1038/s41586-026-10345-6.
+PST - ppublish
+SO - Nature. 2026 May;653(8115):796-808. doi: 10.1038/s41586-026-10345-6. Epub 2026
+ Apr 8.
PMID- 41928938
OWN - NLM
@@ -3931,7 +5384,7 @@ PMID- 41665027
OWN - NLM
STAT- MEDLINE
DCOM- 20260306
-LR - 20260306
+LR - 20260513
IS - 1546-4156 (Electronic)
IS - 0893-0341 (Linking)
VI - 40
@@ -4158,8 +5611,9 @@ PMID- 41643661
OWN - NLM
STAT- MEDLINE
DCOM- 20260319
-LR - 20260319
+LR - 20260527
IS - 1097-4199 (Electronic)
+IS - 0896-6273 (Print)
IS - 0896-6273 (Linking)
VI - 114
IP - 6
@@ -4273,10 +5727,11 @@ AD - Department of Biochemistry and Molecular Biology, Bloomberg School of Publ
Neuroscience, School of Medicine, Johns Hopkins University, Baltimore, MD 21205,
USA. Electronic address: jiouw@jhmi.edu.
LA - eng
+GR - R01 HG009518/HG/NHGRI NIH HHS/United States
+GR - R01 NS128494/NS/NINDS NIH HHS/United States
GR - R01 NS074324/NS/NINDS NIH HHS/United States
-GR - R01 NS089616/NS/NINDS NIH HHS/United States
GR - R01 NS110098/NS/NINDS NIH HHS/United States
-GR - R01 NS128494/NS/NINDS NIH HHS/United States
+GR - R01 NS089616/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20260204
PL - United States
@@ -4301,6 +5756,8 @@ MH - Transcription, Genetic
MH - Chromatin/metabolism
MH - Motor Neurons/metabolism
MH - Gene Expression Regulation
+PMC - PMC13204405
+MID - NIHMS2168308
OTO - NOTNLM
OT - C9ORF72
OT - DNA-RNA interaction
@@ -4313,6 +5770,7 @@ COIS- Declaration of interests J.K.I. is a cofounder of AcuraStem and Modulo Bio
this project.
EDAT- 2026/02/06 00:30
MHDA- 2026/03/20 00:59
+PMCR- 2026/05/26
CRDT- 2026/02/05 18:41
PHST- 2025/01/09 00:00 [received]
PHST- 2025/09/30 00:00 [revised]
@@ -4320,6 +5778,7 @@ PHST- 2025/12/03 00:00 [accepted]
PHST- 2026/03/20 00:59 [medline]
PHST- 2026/02/06 00:30 [pubmed]
PHST- 2026/02/05 18:41 [entrez]
+PHST- 2026/05/26 00:00 [pmc-release]
AID - S0896-6273(25)00932-8 [pii]
AID - 10.1016/j.neuron.2025.12.005 [doi]
PST - ppublish
@@ -4943,7 +6402,7 @@ PMID- 41500252
OWN - NLM
STAT- MEDLINE
DCOM- 20260405
-LR - 20260408
+LR - 20260601
IS - 1750-3639 (Electronic)
IS - 1015-6305 (Print)
IS - 1015-6305 (Linking)
@@ -5070,20 +6529,18 @@ JT - Brain pathology (Zurich, Switzerland)
JID - 9216781
RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
-RN - 0 (Proteins)
SB - IM
MH - Humans
-MH - *Frontotemporal Dementia/genetics/pathology/diagnostic imaging
MH - *C9orf72 Protein/genetics
-MH - Middle Aged
+MH - *Frontotemporal Dementia/genetics/pathology/diagnostic imaging
MH - Argentina
MH - Male
-MH - Female
MH - DNA Repeat Expansion/genetics
+MH - Middle Aged
+MH - Female
MH - Pedigree
+MH - Brain/pathology
MH - Aged
-MH - Brain/pathology/diagnostic imaging
-MH - *Proteins/genetics
PMC - PMC13051987
OTO - NOTNLM
OT - C9ORF72 expansion
@@ -6212,7 +7669,7 @@ PMID- 41366786
OWN - NLM
STAT- MEDLINE
DCOM- 20251210
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IS - 1552-5260 (Linking)
@@ -6405,7 +7862,7 @@ PMID- 41359433
OWN - NLM
STAT- MEDLINE
DCOM- 20260421
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IS - 2167-8421 (Linking)
VI - 27
@@ -6508,6 +7965,7 @@ AD - Department of Biomedical Science, Faculty of Medicine, Universiti Malaya,
Lumpur, Malaysia.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20251208
PL - England
TA - Amyotroph Lateral Scler Frontotemporal Degener
@@ -6802,7 +8260,7 @@ PMID- 41283823
OWN - NLM
STAT- MEDLINE
DCOM- 20260421
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IS - 2167-8421 (Linking)
VI - 27
@@ -7784,7 +9242,7 @@ PMID- 41196070
OWN - NLM
STAT- MEDLINE
DCOM- 20260421
-LR - 20260421
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IS - 2167-8421 (Linking)
VI - 27
@@ -7895,6 +9353,7 @@ AD - Neurogenetics Unit, 1st Department of Neurology, National and Kapodistrian
University of Athens, Eginitio Hospital, Athens, Greece.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20251106
PL - England
TA - Amyotroph Lateral Scler Frontotemporal Degener
@@ -8315,7 +9774,7 @@ PMID- 41137727
OWN - NLM
STAT- MEDLINE
DCOM- 20260205
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IS - 2167-9223 (Electronic)
IS - 2167-8421 (Linking)
VI - 27
@@ -8424,6 +9883,7 @@ AD - Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pr
India.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20251025
PL - England
TA - Amyotroph Lateral Scler Frontotemporal Degener
@@ -8920,6 +10380,7 @@ STAT- MEDLINE
DCOM- 20251113
LR - 20260219
IS - 1939-4586 (Electronic)
+IS - 1059-1524 (Print)
IS - 1059-1524 (Linking)
VI - 36
IP - 12
@@ -8984,10 +10445,12 @@ MID - NIHMS2139731
COIS- Conflicts of interest: The authors declare no competing financial interests.
EDAT- 2025/10/08 18:33
MHDA- 2025/11/13 18:30
+PMCR- 2026/02/18
CRDT- 2025/10/08 12:32
PHST- 2025/11/13 18:30 [medline]
PHST- 2025/10/08 18:33 [pubmed]
PHST- 2025/10/08 12:32 [entrez]
+PHST- 2026/02/18 00:00 [pmc-release]
AID - 10.1091/mbc.E24-12-0539 [doi]
PST - ppublish
SO - Mol Biol Cell. 2025 Dec 1;36(12):ar145. doi: 10.1091/mbc.E24-12-0539. Epub 2025
@@ -10456,7 +11919,7 @@ PMID- 40952044
OWN - NLM
STAT- MEDLINE
DCOM- 20251201
-LR - 20251204
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IS - 1098-1136 (Electronic)
IS - 0894-1491 (Print)
IS - 0894-1491 (Linking)
@@ -10533,6 +11996,7 @@ LA - eng
GR - WT_/Wellcome Trust/United Kingdom
GR - Astex Pharmaceuticals/
PT - Journal Article
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DEP - 20250915
PL - United States
TA - Glia
@@ -11028,7 +12492,7 @@ PMID- 40888599
OWN - NLM
STAT- MEDLINE
DCOM- 20251201
-LR - 20251203
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IS - 1098-1136 (Electronic)
IS - 0894-1491 (Print)
IS - 0894-1491 (Linking)
@@ -11135,6 +12599,7 @@ GR - 490761034/Deutsche Forschungsgemeinschaft/
GR - 01ED2005B/EU Joint Programme - Neurodegenerative Disease Research/
GR - 101003329/ERC_/European Research Council/International
PT - Journal Article
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DEP - 20250901
PL - United States
TA - Glia
@@ -11917,7 +13382,7 @@ PMID- 40767591
OWN - NLM
STAT- MEDLINE
DCOM- 20260205
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IS - 2167-8421 (Linking)
VI - 27
@@ -14333,7 +15798,7 @@ PMID- 40424855
OWN - NLM
STAT- MEDLINE
DCOM- 20250612
-LR - 20250612
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IS - 1878-5883 (Electronic)
IS - 0022-510X (Linking)
VI - 474
@@ -15928,7 +17393,7 @@ PMID- 40250093
OWN - NLM
STAT- MEDLINE
DCOM- 20250522
-LR - 20250522
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IS - 1878-5883 (Electronic)
IS - 0022-510X (Linking)
VI - 473
@@ -16016,6 +17481,7 @@ AD - Department of Medical Biotechnology and Translational Medicine, Universita
Piazzale Brescia 20, 20149 Milan, Italy. Electronic address:
a.ratti@auxologico.it.
LA - eng
+SI - GEO/GSE291052
PT - Journal Article
DEP - 20250414
PL - Netherlands
@@ -21412,7 +22878,7 @@ PMID- 39437787
OWN - NLM
STAT- MEDLINE
DCOM- 20241115
-LR - 20260310
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IS - 2666-979X (Electronic)
IS - 2666-979X (Linking)
VI - 4
@@ -23079,7 +24545,7 @@ PMID- 39316038
OWN - NLM
STAT- MEDLINE
DCOM- 20250424
-LR - 20250515
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IS - 2167-9223 (Electronic)
IS - 2167-8421 (Linking)
VI - 26
@@ -23195,6 +24661,7 @@ AD - Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
AD - Institute of Clinical Medicine, University of Oslo, Nordbyhagen, Norway.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20240924
PL - England
TA - Amyotroph Lateral Scler Frontotemporal Degener
@@ -23319,7 +24786,7 @@ PMID- 39311028
OWN - NLM
STAT- MEDLINE
DCOM- 20241003
-LR - 20241009
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IS - 1520-5207 (Electronic)
IS - 1520-6106 (Print)
IS - 1520-5207 (Linking)
@@ -23358,6 +24825,7 @@ AD - Zernike Institute for Advanced Materials, University of Groningen, Groning
9747AG, the Netherlands.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20240923
PL - United States
TA - J Phys Chem B
@@ -23793,7 +25261,7 @@ PMID- 39268612
OWN - NLM
STAT- MEDLINE
DCOM- 20250116
-LR - 20250610
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IS - 2167-9223 (Electronic)
IS - 2167-8421 (Linking)
VI - 26
@@ -23944,6 +25412,7 @@ AD - Department of Neurology, Center for ALS and other Motor Neuron Disorders,
LA - eng
PT - Journal Article
PT - Multicenter Study
+PT - Research Support, Non-U.S. Gov't
DEP - 20240913
PL - England
TA - Amyotroph Lateral Scler Frontotemporal Degener
@@ -25769,7 +27238,7 @@ PMID- 39098187
OWN - NLM
STAT- MEDLINE
DCOM- 20240920
-LR - 20260307
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IS - 2213-1582 (Electronic)
IS - 2213-1582 (Linking)
VI - 43
@@ -25877,6 +27346,7 @@ GR - R01 AG059794/AG/NIA NIH HHS/United States
GR - R01 AG062758/AG/NIA NIH HHS/United States
GR - R01 AG071756/AG/NIA NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
DEP - 20240729
PL - Netherlands
TA - Neuroimage Clin
@@ -27770,7 +29240,7 @@ PMID- 38852112
OWN - NLM
STAT- MEDLINE
DCOM- 20240812
-LR - 20240817
+LR - 20260518
IS - 1432-1459 (Electronic)
IS - 0340-5354 (Print)
IS - 0340-5354 (Linking)
@@ -28830,6 +30300,7 @@ PST - ppublish
SO - Mol Ther. 2024 Jul 3;32(7):2176-2189. doi: 10.1016/j.ymthe.2024.05.016. Epub 2024
May 11.
+
PMID- 38722513
OWN - NLM
STAT- MEDLINE
@@ -30286,7 +31757,6 @@ AID - 10.1093/brain/awae109 [doi]
PST - ppublish
SO - Brain. 2024 Sep 3;147(9):2998-3008. doi: 10.1093/brain/awae109.
-
PMID- 38585915
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -30402,7 +31872,7 @@ PMID- 38568044
OWN - NLM
STAT- MEDLINE
DCOM- 20240619
-LR - 20240708
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IS - 1531-8249 (Electronic)
IS - 0364-5134 (Linking)
VI - 96
@@ -31826,7 +33296,7 @@ PMID- 38312023
OWN - NLM
STAT- MEDLINE
DCOM- 20240219
-LR - 20240219
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IS - 1750-192X (Electronic)
IS - 1750-192X (Linking)
VI - 16
@@ -33390,7 +34860,7 @@ PMID- 38099605
OWN - NLM
STAT- MEDLINE
DCOM- 20240124
-LR - 20240201
+LR - 20260514
IS - 2167-9223 (Electronic)
IS - 2167-8421 (Linking)
VI - 25
@@ -33477,6 +34947,7 @@ AD - Department of Medical Biotechnology and Translational Medicine, University
Milan, Milan, Italy, and.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20240123
PL - England
TA - Amyotroph Lateral Scler Frontotemporal Degener
@@ -34458,7 +35929,7 @@ PMID- 37861203
OWN - NLM
STAT- MEDLINE
DCOM- 20240124
-LR - 20240202
+LR - 20260514
IS - 2167-9223 (Electronic)
IS - 2167-8421 (Linking)
VI - 25
@@ -34554,6 +36025,7 @@ AD - Research support and Biostatistics, Julius Centre for Health Sciences and
Care, Utrecht University, Utrecht, Netherlands.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20240123
PL - England
TA - Amyotroph Lateral Scler Frontotemporal Degener
@@ -34587,7 +36059,7 @@ SO - Amyotroph Lateral Scler Frontotemporal Degener. 2024 Feb;25(1-2):188-196.
PMID- 37847372
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20250530
+LR - 20260518
IS - 2193-8253 (Print)
IS - 2193-6536 (Electronic)
IS - 2193-6536 (Linking)
@@ -35173,7 +36645,7 @@ PMID- 37827570
OWN - NLM
STAT- MEDLINE
DCOM- 20240315
-LR - 20240812
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IS - 1468-330X (Electronic)
IS - 0022-3050 (Print)
IS - 0022-3050 (Linking)
@@ -44051,7 +45523,7 @@ PMID- 36515702
OWN - NLM
STAT- MEDLINE
DCOM- 20230301
-LR - 20260127
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IS - 1432-1459 (Electronic)
IS - 0340-5354 (Print)
IS - 0340-5354 (Linking)
@@ -44802,7 +46274,7 @@ PMID- 36458975
OWN - NLM
STAT- MEDLINE
DCOM- 20230503
-LR - 20250530
+LR - 20260518
IS - 1460-2156 (Electronic)
IS - 0006-8950 (Linking)
VI - 146
@@ -53153,7 +54625,7 @@ PMID- 35379698
OWN - NLM
STAT- MEDLINE
DCOM- 20220715
-LR - 20250728
+LR - 20260518
IS - 1468-330X (Electronic)
IS - 0022-3050 (Print)
IS - 0022-3050 (Linking)
@@ -54133,7 +55605,7 @@ PMID- 35182509
OWN - NLM
STAT- MEDLINE
DCOM- 20220321
-LR - 20260127
+LR - 20260518
IS - 1474-4465 (Electronic)
IS - 1474-4422 (Print)
IS - 1474-4422 (Linking)
@@ -56933,7 +58405,7 @@ PMID- 34717271
OWN - NLM
STAT- MEDLINE
DCOM- 20220131
-LR - 20220531
+LR - 20260518
IS - 1973-8102 (Electronic)
IS - 0010-9452 (Linking)
VI - 145
@@ -58997,6 +60469,7 @@ AID - 10.1038/s41398-021-01577-3 [doi]
PST - epublish
SO - Transl Psychiatry. 2021 Sep 2;11(1):451. doi: 10.1038/s41398-021-01577-3.
+
PMID- 34450161
OWN - NLM
STAT- MEDLINE
@@ -60444,7 +61917,6 @@ PST - ppublish
SO - Amyotroph Lateral Scler Frontotemporal Degener. 2022 May;23(3-4):292-298. doi:
10.1080/21678421.2021.1962355. Epub 2021 Aug 12.
-
PMID- 34376242
OWN - NLM
STAT- MEDLINE
@@ -61583,7 +63055,7 @@ PMID- 34209673
OWN - NLM
STAT- MEDLINE
DCOM- 20210708
-LR - 20210726
+LR - 20260518
IS - 1422-0067 (Electronic)
IS - 1422-0067 (Linking)
VI - 22
@@ -71346,7 +72818,7 @@ SO - Proc Natl Acad Sci U S A. 2020 Oct 6;117(40):25104-25115. doi:
PMID- 32954321
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20250530
+LR - 20260518
IS - 2632-1297 (Electronic)
IS - 2632-1297 (Linking)
VI - 2
@@ -73178,7 +74650,7 @@ PMID- 32759310
OWN - NLM
STAT- MEDLINE
DCOM- 20210322
-LR - 20250530
+LR - 20260518
IS - 1468-330X (Electronic)
IS - 0022-3050 (Linking)
VI - 91
@@ -76973,6 +78445,7 @@ TI - Improved detection of RNA foci in C9orf72 amyotrophic lateral sclerosis
dysfunction.
PG - fcaa009
LID - 10.1093/braincomms/fcaa009 [doi]
+LID - fcaa009
AB - The C9orf72 hexanucleotide repeat expansion is the commonest known genetic
mutation in amyotrophic lateral sclerosis. A neuropathological hallmark is the
intracellular accumulation of RNA foci. The role that RNA foci play in the
@@ -77066,10 +78539,13 @@ OT - sense RNA foci
COIS- Competing interests The authors declare no conflicts of interest.
EDAT- 2020/04/01 06:00
MHDA- 2020/04/01 06:01
+PMCR- 2020/01/31
CRDT- 2020/04/01 06:00
PHST- 2020/04/01 06:00 [entrez]
PHST- 2020/04/01 06:00 [pubmed]
PHST- 2020/04/01 06:01 [medline]
+PHST- 2020/01/31 00:00 [pmc-release]
+AID - fcaa009 [pii]
AID - 10.1093/braincomms/fcaa009 [doi]
PST - ppublish
SO - Brain Commun. 2020 Jan 31;2(1):fcaa009. doi: 10.1093/braincomms/fcaa009.
@@ -77728,7 +79204,7 @@ PMID- 32132225
OWN - NLM
STAT- MEDLINE
DCOM- 20201112
-LR - 20201112
+LR - 20260518
IS - 1468-330X (Electronic)
IS - 0022-3050 (Linking)
VI - 91
@@ -84202,7 +85678,7 @@ PMID- 31578297
OWN - NLM
STAT- MEDLINE
DCOM- 20200203
-LR - 20250530
+LR - 20260518
IS - 1526-632X (Electronic)
IS - 0028-3878 (Print)
IS - 0028-3878 (Linking)
@@ -88758,6 +90234,7 @@ PST - ppublish
SO - Neurobiol Aging. 2019 Dec;84:241.e21-241.e25. doi:
10.1016/j.neurobiolaging.2019.03.009. Epub 2019 Mar 27.
+
PMID- 30992063
OWN - NLM
STAT- MEDLINE
@@ -90200,7 +91677,6 @@ PST - ppublish
SO - J Neurol Neurosurg Psychiatry. 2019 Jun;90(6):659-665. doi:
10.1136/jnnp-2018-319838. Epub 2019 Mar 7.
-
PMID- 30790403
OWN - NLM
STAT- MEDLINE
@@ -93611,7 +95087,7 @@ PMID- 30337192
OWN - NLM
STAT- MEDLINE
DCOM- 20191126
-LR - 20191126
+LR - 20260518
IS - 1558-1497 (Electronic)
IS - 0197-4580 (Linking)
VI - 74
@@ -94498,7 +95974,7 @@ PMID- 30252044
OWN - NLM
STAT- MEDLINE
DCOM- 20190705
-LR - 20250530
+LR - 20260518
IS - 1460-2156 (Electronic)
IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
@@ -95682,7 +97158,7 @@ SO - J Biol Chem. 2018 Oct 19;293(42):16127-16141. doi: 10.1074/jbc.R118.003237
PMID- 30210275
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20200930
+LR - 20260518
IS - 1662-4548 (Print)
IS - 1662-453X (Electronic)
IS - 1662-453X (Linking)
@@ -98467,7 +99943,7 @@ PMID- 29848387
OWN - NLM
STAT- MEDLINE
DCOM- 20190530
-LR - 20201109
+LR - 20260518
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
VI - 6
@@ -103845,7 +105321,7 @@ SO - Acta Neuropathol. 2018 Mar;135(3):459-474. doi: 10.1007/s00401-017-1793-8.
PMID- 29170628
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20250530
+LR - 20260518
IS - 1662-5099 (Print)
IS - 1662-5099 (Electronic)
IS - 1662-5099 (Linking)
@@ -107074,7 +108550,7 @@ PMID- 28803727
OWN - NLM
STAT- MEDLINE
DCOM- 20170901
-LR - 20240104
+LR - 20260529
IS - 1097-4172 (Electronic)
IS - 0092-8674 (Print)
IS - 0092-8674 (Linking)
@@ -111079,7 +112555,7 @@ PMID- 28408402
OWN - NLM
STAT- MEDLINE
DCOM- 20180312
-LR - 20220317
+LR - 20260518
IS - 1757-4684 (Electronic)
IS - 1757-4676 (Print)
IS - 1757-4676 (Linking)
@@ -115322,7 +116798,7 @@ PMID- 27796305
OWN - NLM
STAT- MEDLINE
DCOM- 20180920
-LR - 20181113
+LR - 20260526
IS - 2041-1723 (Electronic)
IS - 2041-1723 (Linking)
VI - 7
@@ -115482,15 +116958,16 @@ AD - Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvar
LA - eng
GR - R01 NS089742/NS/NINDS NIH HHS/United States
GR - P50 AG016574/AG/NIA NIH HHS/United States
-GR - R01 NS063964/NS/NINDS NIH HHS/United States
-GR - P50 AG005134/AG/NIA NIH HHS/United States
-GR - T32 CA009216/CA/NCI NIH HHS/United States
-GR - R01 NS088689/NS/NINDS NIH HHS/United States
+GR - T32 GM007598/GM/NIGMS NIH HHS/United States
GR - P01 NS084974/NS/NINDS NIH HHS/United States
GR - R21 NS084528/NS/NINDS NIH HHS/United States
GR - R01 ES020395/ES/NIEHS NIH HHS/United States
GR - R01 NS077402/NS/NINDS NIH HHS/United States
GR - R01 EB010244/EB/NIBIB NIH HHS/United States
+GR - R01 NS063964/NS/NINDS NIH HHS/United States
+GR - P50 AG005134/AG/NIA NIH HHS/United States
+GR - T32 CA009216/CA/NCI NIH HHS/United States
+GR - R01 NS088689/NS/NINDS NIH HHS/United States
PT - Journal Article
PT - Research Support, N.I.H., Extramural
PT - Research Support, Non-U.S. Gov't
@@ -119978,6 +121455,7 @@ AID - 10.1016/j.neuron.2016.04.026 [doi]
PST - ppublish
SO - Neuron. 2016 May 4;90(3):427-31. doi: 10.1016/j.neuron.2016.04.026.
+
PMID- 27112497
OWN - NLM
STAT- MEDLINE
@@ -121567,7 +123045,6 @@ AID - 10.1111/gtc.12352 [doi]
PST - ppublish
SO - Genes Cells. 2016 May;21(5):466-81. doi: 10.1111/gtc.12352. Epub 2016 Feb 24.
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PMID- 26903389
OWN - NLM
STAT- MEDLINE
@@ -122702,7 +124179,7 @@ PMID- 26733254
OWN - NLM
STAT- MEDLINE
DCOM- 20161213
-LR - 20260127
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IS - 1558-1497 (Electronic)
IS - 0197-4580 (Print)
IS - 0197-4580 (Linking)
@@ -123926,7 +125403,7 @@ PMID- 26674655
OWN - NLM
STAT- MEDLINE
DCOM- 20160630
-LR - 20220330
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IS - 1460-2156 (Electronic)
IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
@@ -132818,7 +134295,7 @@ PMID- 25326098
OWN - NLM
STAT- MEDLINE
DCOM- 20150126
-LR - 20260213
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IS - 1526-632X (Electronic)
IS - 0028-3878 (Print)
IS - 0028-3878 (Linking)
@@ -146110,6 +147587,7 @@ STAT- MEDLINE
DCOM- 20140925
LR - 20220331
IS - 1469-1809 (Electronic)
+IS - 0003-4800 (Print)
IS - 0003-4800 (Linking)
VI - 77
IP - 5
@@ -146224,12 +147702,14 @@ OT - association
OT - risk factor
EDAT- 2013/07/13 06:00
MHDA- 2014/09/26 06:00
+PMCR- 2014/01/27
CRDT- 2013/07/13 06:00
PHST- 2012/11/07 00:00 [received]
PHST- 2013/06/04 00:00 [accepted]
PHST- 2013/07/13 06:00 [entrez]
PHST- 2013/07/13 06:00 [pubmed]
PHST- 2014/09/26 06:00 [medline]
+PHST- 2014/01/27 00:00 [pmc-release]
AID - 10.1111/ahg.12033 [doi]
PST - ppublish
SO - Ann Hum Genet. 2013 Sep;77(5):351-63. doi: 10.1111/ahg.12033. Epub 2013 Jul 12.
@@ -146909,6 +148389,7 @@ AID - 10.1002/ana.23946 [doi]
PST - ppublish
SO - Ann Neurol. 2013 Aug;74(2):180-7. doi: 10.1002/ana.23946.
+
PMID- 23695224
OWN - NLM
STAT- MEDLINE
@@ -147469,7 +148950,7 @@ PMID- 23588422
OWN - NLM
STAT- MEDLINE
DCOM- 20130829
-LR - 20220331
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IS - 2168-6157 (Electronic)
IS - 2168-6149 (Print)
IS - 2168-6149 (Linking)
@@ -148045,6 +149526,7 @@ STAT- MEDLINE
DCOM- 20131028
LR - 20211021
IS - 1399-5618 (Electronic)
+IS - 1398-5647 (Print)
IS - 1398-5647 (Linking)
VI - 15
IP - 3
@@ -148220,7 +149702,6 @@ AID - 10.3233/BEN-120324 [doi]
PST - ppublish
SO - Behav Neurol. 2013 Jan 1;27(3):293-4. doi: 10.3233/BEN-120324.
-
PMID- 23473366
OWN - NLM
STAT- MEDLINE
@@ -152637,7 +154118,7 @@ PMID- 22936364
OWN - NLM
STAT- MEDLINE
DCOM- 20130701
-LR - 20221207
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IS - 1098-1004 (Electronic)
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VI - 34
@@ -153597,7 +155078,7 @@ PMID- 22840558
OWN - NLM
STAT- MEDLINE
DCOM- 20130312
-LR - 20220331
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IS - 1558-1497 (Electronic)
IS - 0197-4580 (Print)
IS - 0197-4580 (Linking)
@@ -154357,7 +155838,7 @@ PMID- 22727276
OWN - NLM
STAT- MEDLINE
DCOM- 20130121
-LR - 20221207
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IS - 0197-4580 (Linking)
VI - 33
@@ -155726,7 +157207,7 @@ PMID- 22550220
OWN - NLM
STAT- MEDLINE
DCOM- 20120816
-LR - 20260128
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IS - 1468-330X (Electronic)
IS - 0022-3050 (Print)
IS - 0022-3050 (Linking)
@@ -156560,7 +158041,7 @@ PMID- 22418734
OWN - NLM
STAT- MEDLINE
DCOM- 20121024
-LR - 20260128
+LR - 20260518
IS - 1558-1497 (Electronic)
IS - 0197-4580 (Print)
IS - 0197-4580 (Linking)
@@ -156950,8 +158431,9 @@ PMID- 22406228
OWN - NLM
STAT- MEDLINE
DCOM- 20120511
-LR - 20250529
+LR - 20260518
IS - 1474-4465 (Electronic)
+IS - 1474-4422 (Print)
IS - 1474-4422 (Linking)
VI - 11
IP - 4
@@ -157404,10 +158886,12 @@ FIR - Logroscino, Giancarlo
IR - Logroscino G
EDAT- 2012/03/13 06:00
MHDA- 2012/05/12 06:00
+PMCR- 2012/04/01
CRDT- 2012/03/13 06:00
PHST- 2012/03/13 06:00 [entrez]
PHST- 2012/03/13 06:00 [pubmed]
PHST- 2012/05/12 06:00 [medline]
+PHST- 2012/04/01 00:00 [pmc-release]
AID - S1474-4422(12)70043-1 [pii]
AID - 10.1016/S1474-4422(12)70043-1 [doi]
PST - ppublish
@@ -157565,7 +159049,7 @@ PMID- 22366794
OWN - NLM
STAT- MEDLINE
DCOM- 20120409
-LR - 20260128
+LR - 20260518
IS - 1460-2156 (Electronic)
IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
@@ -159579,7 +161063,7 @@ PMID- 21944779
OWN - NLM
STAT- MEDLINE
DCOM- 20111219
-LR - 20250529
+LR - 20260518
IS - 1097-4199 (Electronic)
IS - 0896-6273 (Print)
IS - 0896-6273 (Linking)
diff --git a/data/literature/CACNA1A_batch_01.txt b/data/literature/CACNA1A_batch_01.txt
index 4745af81..7f521c5f 100644
--- a/data/literature/CACNA1A_batch_01.txt
+++ b/data/literature/CACNA1A_batch_01.txt
@@ -1,4 +1,159 @@
+PMID- 42196324
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260527
+LR - 20260529
+IS - 1422-0067 (Electronic)
+IS - 1422-0067 (Linking)
+VI - 27
+IP - 10
+DP - 2026 May 13
+TI - Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant
+ Expansions in a Large Turkish Neurodegeneration Disease Cohort.
+LID - 10.3390/ijms27104345 [doi]
+LID - 4345
+AB - Short tandem repeat (STR) expansions are a major cause of neurodegenerative
+ disorders; however, their genetic and clinical heterogeneity complicates
+ diagnosis. STR detection remains limited in routine short-read next-generation
+ sequencing (NGS) workflows. We evaluated the diagnostic yield and clinical
+ utility of computational STR genotyping in a large Turkish neurodegenerative
+ disease cohort. ExpansionHunter was applied to NGS data from 3150 patients and
+ 146 controls, targeting 15 disease-associated STR loci. To improve genotyping of
+ poorly captured exonic regions in exome data, the default locus coverage
+ threshold was reduced from 10x to 3x. Candidate expansions were visually
+ inspected using REViewer and validated by conventional molecular methods.
+ Computational analysis detected 28 pathogenic and 160 intermediate expansions. Of
+ these, 23 were confirmed as pathogenic, and eight initially classified as
+ intermediate were reclassified as pathogenic after conventional validation,
+ resulting in 31 pathogenic cases across 28 families: HTT (n = 8), ATXN2 (n = 5),
+ ATXN1 (n = 4), DMPK (n = 3), PABPN1 (n = 3), TBP (n = 2), and single cases in AR,
+ ATN1, and CACNA1A. Lowering the coverage threshold markedly increased genotyping
+ rates at low-coverage loci in exome data, particularly in ATXN2. Genetic findings
+ were largely consistent with clinical pre-diagnosis and the additional diagnostic
+ yield was 0.95%. These findings support integrating STR analysis into routine
+ neurogenetic diagnostics.
+FAU - Khojakulov, Zakhiriddin
+AU - Khojakulov Z
+AUID- ORCID: 0000-0002-7771-8956
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Palvadeau, Robin J
+AU - Palvadeau RJ
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Kovancilar-Koc, Muge
+AU - Kovancilar-Koc M
+AUID- ORCID: 0009-0006-7125-1159
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Atay, Irmak
+AU - Atay I
+AUID- ORCID: 0009-0007-3284-7790
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Sahbaz, Irmak
+AU - Sahbaz I
+AUID- ORCID: 0000-0001-8816-9158
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Tekgul, Seyma
+AU - Tekgul S
+AUID- ORCID: 0000-0001-5223-5627
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Sahin, Ayca
+AU - Sahin A
+AUID- ORCID: 0000-0002-0948-6495
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Badakal, Esmer Zeynep Duru
+AU - Badakal EZD
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Gul-Demirkale, Tugce
+AU - Gul-Demirkale T
+AUID- ORCID: 0000-0002-1818-9839
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Ciftci, Vildan
+AU - Ciftci V
+AUID- ORCID: 0000-0002-4441-6062
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Bayraktar, Elif
+AU - Bayraktar E
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Tunca, Ceren
+AU - Tunca C
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Smolina, Natalia
+AU - Smolina N
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Akcimen, Fulya
+AU - Akcimen F
+AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
+ Health, Bethesda, MD 20892, USA.
+FAU - Basak, Ayse Nazli
+AU - Basak AN
+AUID- ORCID: 0000-0001-6977-2517
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+LA - eng
+GR - Suna and Inan Kirac Foundation/Suna and Inan Kirac Foundation/
+GR - Koc university/Koc University/
+PT - Journal Article
+DEP - 20260513
+PL - Switzerland
+TA - Int J Mol Sci
+JT - International journal of molecular sciences
+JID - 101092791
+SB - IM
+MH - Humans
+MH - *Microsatellite Repeats/genetics
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Turkey/epidemiology
+MH - High-Throughput Nucleotide Sequencing
+MH - Genotype
+MH - Female
+MH - *Genotyping Techniques/methods
+MH - Male
+MH - Cohort Studies
+MH - *DNA Repeat Expansion
+MH - Computational Biology/methods
+PMC - PMC13207311
+OTO - NOTNLM
+OT - ExpansionHunter
+OT - NGS
+OT - STR
+OT - computational genotyping
+OT - neurodegenerative diseases
+OT - short tandem repeats
+COIS- The authors declare no conflicts of interest. The contributions of the NIH
+ author(s) are considered Works of the United States Government. The findings and
+ conclusions presented in this paper are those of the author(s) and do not
+ necessarily reflect the views of the NIH or the U.S. Department of Health and
+ Human Services.
+EDAT- 2026/05/27 06:33
+MHDA- 2026/05/27 06:34
+PMCR- 2026/05/13
+CRDT- 2026/05/27 01:16
+PHST- 2026/03/05 00:00 [received]
+PHST- 2026/04/04 00:00 [revised]
+PHST- 2026/04/09 00:00 [accepted]
+PHST- 2026/05/27 06:34 [medline]
+PHST- 2026/05/27 06:33 [pubmed]
+PHST- 2026/05/27 01:16 [entrez]
+PHST- 2026/05/13 00:00 [pmc-release]
+AID - ijms27104345 [pii]
+AID - ijms-27-04345 [pii]
+AID - 10.3390/ijms27104345 [doi]
+PST - epublish
+SO - Int J Mol Sci. 2026 May 13;27(10):4345. doi: 10.3390/ijms27104345.
+
PMID- 42038259
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -124,12 +279,17 @@ SO - Brain Commun. 2026 Mar 16;8(2):fcag092. doi: 10.1093/braincomms/fcag092.
PMID- 41951733
OWN - NLM
-STAT- Publisher
-LR - 20260421
+STAT- MEDLINE
+DCOM- 20260521
+LR - 20260523
IS - 1476-4687 (Electronic)
+IS - 0028-0836 (Print)
IS - 0028-0836 (Linking)
-DP - 2026 Apr 8
+VI - 653
+IP - 8115
+DP - 2026 May
TI - Population-scale repeat expansions elucidate disease risk and brain atrophy.
+PG - 796-808
LID - 10.1038/s41586-026-10345-6 [doi]
AB - Pathogenic expansions of short tandem repeats (STRs) cause over 70 neurological
diseases(1-3). Here we performed a population-scale survey of pathogenic repeat
@@ -265,7 +425,32 @@ PL - England
TA - Nature
JT - Nature
JID - 0410462
+RN - 0 (C9orf72 Protein)
+RN - 0 (C9orf72 protein, human)
+RN - 0 (DMPK protein, human)
+RN - 0 (HTT protein, human)
+RN - 0 (Huntingtin Protein)
+RN - 0 (neurofilament protein L)
+RN - 0 (Neurofilament Proteins)
+RN - EC 2.7.11.1 (Myotonin-Protein Kinase)
SB - IM
+MH - Female
+MH - Humans
+MH - Male
+MH - Middle Aged
+MH - Atrophy/genetics
+MH - *Brain/pathology
+MH - C9orf72 Protein/genetics
+MH - Cerebellum/pathology
+MH - *DNA Repeat Expansion
+MH - *Genetic Predisposition to Disease/genetics
+MH - Huntingtin Protein/genetics
+MH - Huntington Disease/genetics/pathology
+MH - *Microsatellite Repeats
+MH - Neurofilament Proteins/metabolism
+MH - Organ Size
+MH - Myotonin-Protein Kinase
+PMC - PMC13190288
COIS- Competing interests: V.K.P., J.H.S., J.H., S.O., V.R., X.B., M.D.K., K.L., X.Z.,
S.Y., L.Z., M.G.L., J.R.-V, F.G., S.W., S.S., F.S., E.A.S., Y.H., M.A., S.C.,
W.S., J.O., J.M., J.R., G.R.A., L.L., A.B., G.C. and S.G. are current employees
@@ -789,23 +974,27 @@ IR - Pagan M
FIR - Siceron, Sunilbe
IR - Siceron S
EDAT- 2026/04/09 00:34
-MHDA- 2026/04/09 00:34
+MHDA- 2026/05/21 06:32
+PMCR- 2026/04/08
CRDT- 2026/04/08 23:21
PHST- 2025/05/16 00:00 [received]
PHST- 2026/03/02 00:00 [accepted]
+PHST- 2026/05/21 06:32 [medline]
PHST- 2026/04/09 00:34 [pubmed]
-PHST- 2026/04/09 00:34 [medline]
PHST- 2026/04/08 23:21 [entrez]
+PHST- 2026/04/08 00:00 [pmc-release]
AID - 10.1038/s41586-026-10345-6 [pii]
+AID - 10345 [pii]
AID - 10.1038/s41586-026-10345-6 [doi]
-PST - aheadofprint
-SO - Nature. 2026 Apr 8. doi: 10.1038/s41586-026-10345-6.
+PST - ppublish
+SO - Nature. 2026 May;653(8115):796-808. doi: 10.1038/s41586-026-10345-6. Epub 2026
+ Apr 8.
PMID- 41771688
OWN - NLM
STAT- MEDLINE
DCOM- 20260308
-LR - 20260308
+LR - 20260531
IS - 2575-1077 (Electronic)
IS - 2575-1077 (Linking)
VI - 9
@@ -835,97 +1024,97 @@ CI - (c) 2026 Romano et al.
FAU - Romano, Lisa El
AU - Romano LE
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Tsukagoshi, Setsuki
AU - Tsukagoshi S
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Davey-Osuch, Emily E
AU - Davey-Osuch EE
AUID- ORCID: 0000-0001-7204-5089
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Ajredini, Ramadan
AU - Ajredini R
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Manasi, Kamat
AU - Manasi K
AD - Southeast Center for Integrated Metabolomics, Clinical and Translational Science
- Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ Institute, University of Florida, Gainesville, FL, USA.
FAU - Ortiz, Tala Vr
AU - Ortiz TV
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Rijos, Eduardo
AU - Rijos E
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Bourgon, Nathan J
AU - Bourgon NJ
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Ames, S Elaine
AU - Ames SE
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Garrett, Timothy J
AU - Garrett TJ
AD - Southeast Center for Integrated Metabolomics, Clinical and Translational Science
- Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ Institute, University of Florida, Gainesville, FL, USA.
AD - Department of Pathology, Immunology and Laboratory Medicine, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Cleary, John D
AU - Cleary JD
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Wang, Eric T
AU - Wang ET
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
-AD - Genetics Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
-AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
+AD - Genetics Institute, University of Florida, Gainesville, FL, USA.
+AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
FAU - Ranum, Laura Pw
AU - Ranum LP
AUID- ORCID: 0000-0001-9808-9661
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA ranum@ufl.edu. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA ranum@ufl.edu.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
-AD - Genetics Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
-AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
+AD - Genetics Institute, University of Florida, Gainesville, FL, USA.
+AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
AD - Department of Neurology, College of Medicine, University of Florida, Gainesville,
- FL, USA. ROR: https://ror.org/02y3ad647
+ FL, USA.
AD - Norman Fixel Institute for Neurological Disease, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
LA - eng
+GR - R01 NS098819/NS/NINDS NIH HHS/United States
+GR - R37 NS040389/NS/NINDS NIH HHS/United States
+GR - R01 NS117910/NS/NINDS NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Intramural
+PT - Research Support, Non-U.S. Gov't
+PT - Research Support, U.S. Gov't, Non-P.H.S.
DEP - 20260302
PL - United States
TA - Life Sci Alliance
@@ -2500,7 +2689,7 @@ PMID- 39571249
OWN - NLM
STAT- MEDLINE
DCOM- 20241212
-LR - 20241212
+LR - 20260506
IS - 1878-5883 (Electronic)
IS - 0022-510X (Linking)
VI - 467
@@ -5170,7 +5359,7 @@ PMID- 35182509
OWN - NLM
STAT- MEDLINE
DCOM- 20220321
-LR - 20260127
+LR - 20260518
IS - 1474-4465 (Electronic)
IS - 1474-4422 (Print)
IS - 1474-4422 (Linking)
@@ -11105,7 +11294,7 @@ PMID- 26354989
OWN - NLM
STAT- MEDLINE
DCOM- 20160125
-LR - 20250827
+LR - 20260518
IS - 1526-632X (Electronic)
IS - 0028-3878 (Print)
IS - 0028-3878 (Linking)
diff --git a/data/literature/CEL_batch_01.txt b/data/literature/CEL_batch_01.txt
new file mode 100644
index 00000000..f4279200
--- /dev/null
+++ b/data/literature/CEL_batch_01.txt
@@ -0,0 +1,3363 @@
+
+PMID- 41894686
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260515
+LR - 20260528
+IS - 2473-9537 (Electronic)
+IS - 2473-9529 (Print)
+IS - 2473-9529 (Linking)
+VI - 10
+IP - 10
+DP - 2026 May 26
+TI - Dexamethasone prophylaxis for excessive lymphocyte expansion after cilta-cel in
+ multiple myeloma.
+PG - 3629-3639
+LID - 10.1182/bloodadvances.2025018639 [doi]
+AB - Increased absolute lymphocyte count (ALC) may predict risk of treatment-related
+ mortality and atypical neurologic events among patients receiving chimeric
+ antigen receptor (CAR) T-cell therapies for relapsed/refractory multiple myeloma.
+ In this study, we analyzed the clinical outcomes of patients receiving
+ ciltacabtagene autoleucel (cilta-cel) at the Colorado Blood Cancer Institute,
+ from September 2023 to January 2025. Baseline data were collected pre/post-CAR
+ T-cell therapy. Patients were stratified into preintervention (treated September
+ 2023 to July 2024) and intervention (treated August 2024 to January 2025; those
+ with ALC >5 x 103/muL received 3 days of dexamethasone prophylaxis on first
+ identification of elevated ALC). In the preintervention group, 9 of 30 patients
+ had peak ALC >5 x 103/muL; 5 of 9 (55.6%) experienced atypical neurologic events
+ and all 5 died (cilta-cel therapy-related complications). In the intervention
+ group, 7 of 23 patients had peak ALC >5 x 103/muL and received dexamethasone; 1 of
+ 7 had an atypical neurologic event; and 1 death occured (infectious complication,
+ 9 months posttreatment). Dexamethasone prophylaxis in patients with ALC of >5 x
+ 103/muL resulted in rapid ALC reduction. Overall survival (OS) was significantly
+ lower in preintervention patients with ALC of >5 x 103/muL vs intervention
+ patients with ALC of >5 x 103/muL and patients with ALC of 5 x 103/muL (vs ALC 5 x 103/muL after cilta-cel treatment
+ predicted severe early neurologic events and high mortality risk. Dexamethasone
+ prophylaxis demonstrated promise for risk mitigation.
+CI - (c) 2026 American Society of Hematology. Published by Elsevier Inc. Licensed under
+ Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC
+ BY-NC-ND 4.0), permitting only noncommercial, nonderivative use with attribution.
+ All other rights reserved.
+FAU - Forsberg, Peter A
+AU - Forsberg PA
+AUID- ORCID: 0000-0003-3248-7530
+AD - Colorado Blood Cancer Institute/Sarah Cannon Cancer Network, HCA-HealthONE P/SL,
+ Denver, CO.
+FAU - Turner, Jacqueline A
+AU - Turner JA
+AD - Colorado Blood Cancer Institute/Sarah Cannon Cancer Network, HCA-HealthONE P/SL,
+ Denver, CO.
+AD - Department of Medicine, University of Colorado School of Medicine, Aurora, CO.
+AD - Department of Medicine, Mayo Clinic College of Medicine and Science, Rochester,
+ MN.
+AD - Department of Internal Medicine, Mayo Clinic College of Medicine and Science,
+ Rochester, MN.
+FAU - Meyer, Marita
+AU - Meyer M
+AD - Colorado Blood Cancer Institute/Sarah Cannon Cancer Network, HCA-HealthONE P/SL,
+ Denver, CO.
+AD - Dartmouth Hitchcock Medical Center, Lebanon, NH.
+FAU - Abbott, Diana
+AU - Abbott D
+AD - Colorado Blood Cancer Institute/Sarah Cannon Cancer Network, HCA-HealthONE P/SL,
+ Denver, CO.
+AD - Department of Medicine, University of Colorado School of Medicine, Aurora, CO.
+FAU - Nicholson, Sara
+AU - Nicholson S
+AD - Colorado Blood Cancer Institute/Sarah Cannon Cancer Network, HCA-HealthONE P/SL,
+ Denver, CO.
+FAU - Schade, Henning
+AU - Schade H
+AD - Colorado Blood Cancer Institute/Sarah Cannon Cancer Network, HCA-HealthONE P/SL,
+ Denver, CO.
+FAU - Matous, Jeffrey
+AU - Matous J
+AD - Colorado Blood Cancer Institute/Sarah Cannon Cancer Network, HCA-HealthONE P/SL,
+ Denver, CO.
+FAU - Gregory, Tara
+AU - Gregory T
+AD - Colorado Blood Cancer Institute/Sarah Cannon Cancer Network, HCA-HealthONE P/SL,
+ Denver, CO.
+LA - eng
+PT - Journal Article
+PL - United States
+TA - Blood Adv
+JT - Blood advances
+JID - 101698425
+RN - 7S5I7G3JQL (Dexamethasone)
+RN - 0 (Receptors, Chimeric Antigen)
+SB - IM
+MH - Humans
+MH - *Dexamethasone/therapeutic use
+MH - *Multiple Myeloma/therapy/mortality
+MH - Male
+MH - Female
+MH - Middle Aged
+MH - Aged
+MH - *Immunotherapy, Adoptive/adverse effects/methods
+MH - Lymphocyte Count
+MH - Treatment Outcome
+MH - *Lymphocytes/drug effects
+MH - Adult
+MH - Receptors, Chimeric Antigen
+PMC - PMC13207623
+COIS- Conflict-of-interest disclosure: P.A.F. reports consulting fees from Johnson &
+ Johnson, Kite Pharma, Bristol Myers Squibb, GSK, Pfizer, and Sanofi; and research
+ support from Johnson & Johnson, Kite Pharma, AbbVie, Pfizer, and Karyopharm
+ Therapeutics. D.A. reports participation on data safety monitoring boards for
+ Merck. J.M. received compensation from Johnson & Johnson for delivering a
+ nonpromotional educational lecture, for which he had full control over the
+ content of the presentation. T.G. reports consulting fees from Johnson & Johnson.
+ The remaining authors declare no competing financial interests.
+EDAT- 2026/03/27 18:52
+MHDA- 2026/05/15 18:34
+PMCR- 2026/03/31
+CRDT- 2026/03/27 17:03
+PHST- 2026/03/06 00:00 [accepted]
+PHST- 2025/10/22 00:00 [received]
+PHST- 2026/05/15 18:34 [medline]
+PHST- 2026/03/27 18:52 [pubmed]
+PHST- 2026/03/27 17:03 [entrez]
+PHST- 2026/03/31 00:00 [pmc-release]
+AID - 567462 [pii]
+AID - 10.1182/bloodadvances.2025018639 [doi]
+PST - ppublish
+SO - Blood Adv. 2026 May 26;10(10):3629-3639. doi: 10.1182/bloodadvances.2025018639.
+
+PMID- 41057236
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20251007
+LR - 20251011
+IS - 1099-1069 (Electronic)
+IS - 0278-0232 (Print)
+IS - 0278-0232 (Linking)
+VI - 43
+IP - 6
+DP - 2025 Nov
+TI - Routine Monitoring of CAR-T-Cells Expansion and Persistence in Patients With
+ Aggressive Large B-Cell Lymphoma by Flow Cytometry: A Single-Center Experience.
+PG - e70139
+LID - 10.1002/hon.70139 [doi]
+LID - e70139
+AB - This retrospective, single-center study evaluated routine flow cytometry (FC)
+ monitoring of CAR-T-cells in 45 patients with aggressive large B-cell lymphoma
+ (LBCL). CAR-T-cells expansion was assessed from Day 0 to Month 12. Peak expansion
+ occurred on Day 7 after axi-cel (median 39.3% of total lymphocytes; 87
+ cells/mm(3)) and Day 10 for tisa-cel (median 8.1%; 33.2 cells/mm(3)). Greater
+ CAR-T-cells expansion was associated with immune-related toxicity, with median
+ peak levels reaching 52.8% in patients with grade 2 cytokine release syndrome
+ (CRS) versus 6.6% in those without (p < 0.001) and 60.8% in patients with immune
+ effector cell-associated neurotoxicity syndrome (ICANS) versus 15.3% in those
+ without (p < 0.001). Prolonged cytopenia was observed in 65% of patients and more
+ frequently among those with greater CAR-T-cells expansion. This study highlights
+ FC as a practical tool for monitoring CAR-T-cells dynamics in routine practice,
+ with potential implications for early toxicity risk assessment and personalized
+ supportive care.
+CI - (c) 2025 The Author(s). Hematological Oncology published by John Wiley & Sons Ltd.
+FAU - Zduniak, Alexandra
+AU - Zduniak A
+AD - Centre Henri Becquerel, Department of Hematology, Rouen, France.
+FAU - Martinet, Jeremie
+AU - Martinet J
+AUID- ORCID: 0000-0002-3895-2731
+AD - Department of Immunology and Biotherapy, Univ Rouen Normandie, Inserm, UMR 1234,
+ CHU de Rouen, Rouen, France.
+FAU - Leveque, Emilie
+AU - Leveque E
+AD - Centre Henri Becquerel, Department of Statistics and Clinical Research Unit,
+ Rouen, France.
+FAU - Becker, Stephanie
+AU - Becker S
+AD - Centre Henri Becquerel, Department of Nuclear Medicine, Rouen, France.
+FAU - Tonnelet, David
+AU - Tonnelet D
+AD - Centre Henri Becquerel, Department of Nuclear Medicine, Rouen, France.
+FAU - Santos, Elodie Dos
+AU - Santos ED
+AD - Centre Henri Becquerel, Department of Hematology, Rouen, France.
+FAU - Leroy, Claire
+AU - Leroy C
+AD - Centre Henri Becquerel, Department of Hematology, Rouen, France.
+FAU - Alani, Mustafa
+AU - Alani M
+AD - Centre Henri Becquerel, Department of Hematology, Rouen, France.
+FAU - Rouvet, Jean
+AU - Rouvet J
+AD - Centre Henri Becquerel, Department of Pharmacy, Rouen, France.
+FAU - Brousseau, Marine
+AU - Brousseau M
+AD - Centre Henri Becquerel, Department of Pharmacy, Rouen, France.
+FAU - Giverne, Camille
+AU - Giverne C
+AD - Department of Immunology and Biotherapy, Univ Rouen Normandie, Inserm, UMR 1234,
+ CHU de Rouen, Rouen, France.
+FAU - Cuffel, Alexis
+AU - Cuffel A
+AD - Department of Immunology and Biotherapy, Univ Rouen Normandie, Inserm, UMR 1234,
+ CHU de Rouen, Rouen, France.
+FAU - Jacquot, Serge
+AU - Jacquot S
+AD - Department of Immunology and Biotherapy, Univ Rouen Normandie, Inserm, UMR 1234,
+ CHU de Rouen, Rouen, France.
+FAU - Roucheux, Arnaud
+AU - Roucheux A
+AD - Department of Immunology and Biotherapy, Univ Rouen Normandie, Inserm, UMR 1234,
+ CHU de Rouen, Rouen, France.
+FAU - Veuiller, Alice
+AU - Veuiller A
+AD - Department of Immunology and Biotherapy, Univ Rouen Normandie, Inserm, UMR 1234,
+ CHU de Rouen, Rouen, France.
+FAU - Lecornu, Nicolas
+AU - Lecornu N
+AD - Department of Immunology and Biotherapy, Univ Rouen Normandie, Inserm, UMR 1234,
+ CHU de Rouen, Rouen, France.
+FAU - Norbert, Misa Eugene
+AU - Norbert ME
+AD - Department of Immunology and Biotherapy, Univ Rouen Normandie, Inserm, UMR 1234,
+ CHU de Rouen, Rouen, France.
+FAU - Boyer, Olivier
+AU - Boyer O
+AUID- ORCID: 0000-0002-7591-307X
+AD - Department of Immunology and Biotherapy, Univ Rouen Normandie, Inserm, UMR 1234,
+ CHU de Rouen, Rouen, France.
+FAU - Tilly, Herve
+AU - Tilly H
+AD - Centre Henri Becquerel, Department of Hematology, Rouen, France.
+FAU - Jardin, Fabrice
+AU - Jardin F
+AD - Centre Henri Becquerel, Department of Hematology, Rouen, France.
+AD - Univ Rouen Normandie, Inserm, UMR 1245, Centre Henri Becquerel, Cancer and Brain
+ Genomics, Rouen, France.
+FAU - Latouche, Jean-Baptiste
+AU - Latouche JB
+AD - Department of Immunology and Biotherapy, Univ Rouen Normandie, Inserm, UMR 1234,
+ CHU de Rouen, Rouen, France.
+FAU - Camus, Vincent
+AU - Camus V
+AD - Centre Henri Becquerel, Department of Hematology, Rouen, France.
+AD - Univ Rouen Normandie, Inserm, UMR 1245, Centre Henri Becquerel, Cancer and Brain
+ Genomics, Rouen, France.
+LA - eng
+PT - Journal Article
+PL - England
+TA - Hematol Oncol
+JT - Hematological oncology
+JID - 8307268
+RN - 0 (Receptors, Chimeric Antigen)
+SB - IM
+MH - Humans
+MH - Male
+MH - Female
+MH - *Lymphoma, Large B-Cell, Diffuse/therapy/pathology/immunology
+MH - *Flow Cytometry/methods
+MH - Middle Aged
+MH - Aged
+MH - Adult
+MH - *Immunotherapy, Adoptive/methods/adverse effects
+MH - Retrospective Studies
+MH - *T-Lymphocytes/metabolism/immunology
+MH - *Receptors, Chimeric Antigen/metabolism
+MH - Aged, 80 and over
+MH - Young Adult
+PMC - PMC12504011
+OTO - NOTNLM
+OT - CAR-T cells
+OT - expansion kinetics
+OT - flow cytometry
+OT - large B-cell lymphoma
+OT - persistence
+COIS- The authors declare no conflicts of interest.
+EDAT- 2025/10/08 00:29
+MHDA- 2025/10/08 00:30
+PMCR- 2025/10/08
+CRDT- 2025/10/07 21:22
+PHST- 2025/09/01 00:00 [revised]
+PHST- 2025/07/04 00:00 [received]
+PHST- 2025/09/30 00:00 [accepted]
+PHST- 2025/10/08 00:30 [medline]
+PHST- 2025/10/08 00:29 [pubmed]
+PHST- 2025/10/07 21:22 [entrez]
+PHST- 2025/10/08 00:00 [pmc-release]
+AID - HON70139 [pii]
+AID - 10.1002/hon.70139 [doi]
+PST - ppublish
+SO - Hematol Oncol. 2025 Nov;43(6):e70139. doi: 10.1002/hon.70139.
+
+PMID- 40840513
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20250914
+LR - 20251005
+IS - 2052-0573 (Print)
+IS - 2052-0573 (Electronic)
+IS - 2052-0573 (Linking)
+VI - 2025
+IP - 3
+DP - 2025 Aug 1
+TI - Early-onset diabetes with low utilization of lipid as an energy source carrying a
+ rare missense mutation in the CEL gene.
+LID - e240151 [pii]
+LID - 10.1530/EDM-24-0151 [doi]
+AB - SUMMARY: Carboxyl ester lipase (CEL) is a major component of pancreatic juice and
+ is responsible for the duodenal hydrolysis of cholesteryl esters. Maturity-onset
+ diabetes of the young (MODY) is a form of diabetes mellitus characterized by
+ early onset and dominant inheritance of beta-cell dysfunction. CEL gene mutations
+ cause the type of MODY denoted as MODY8. Herein, we describe a Japanese patient
+ who harbored a heterozygous A689P mutation in the variable number of tandem
+ repeats (VNTRs)-containing exon 11 of the CEL gene. The patient was not obese and
+ his diabetes was characterized by onset in late adolescence, impaired insulin
+ secretion and metabolic dysfunction-associated steatotic liver disease (MASLD).
+ The C-terminal region of CEL has been postulated to be critical for its secretion
+ and activity. Therefore, the A689P mutation may cause pancreatic exocrine
+ insufficiency and eventually contribute to MASLD, which is associated with
+ reduced lipid catabolism. MODY8 is also considered to be a protein-misfolding
+ disease because a heterozygous single nucleotide deletion causes the production
+ of mutant CEL protein leading to diabetes and exocrine dysfunction. In the
+ present case, MASLD and diabetes characterized by impaired insulin secretion were
+ observed. The CEL A689P missense mutation will expand the known
+ genotype-phenotype correlation in diabetes if it can be demonstrated that the
+ variant is pathogenic. LEARNING POINTS: The CEL gene encodes the digestive enzyme
+ carboxyl ester lipase, also known as bile salt-stimulated/dependent lipase. CEL
+ is expressed in pancreatic acinar tissue but not in pancreatic beta cells. MODY
+ caused by mutations in the CEL gene (MODY8) is characterized by dominantly
+ inherited diabetes mellitus manifesting in early adulthood. A classical feature
+ of MODY8 is pancreatic exocrine dysfunction, often with onset in childhood. Known
+ pathogenic mutations in the CEL gene affect the variable number tandem repeat
+ (VNTR) region in exon 11. Our case suggests that some missense mutations of the
+ CEL VNTR could have a phenotypic implication by being associated with impaired
+ glucose-stimulated insulin secretion and reduced utilization of lipid as an
+ energy source which leads to MASLD.
+FAU - Fujii, Ayana
+AU - Fujii A
+AD - Department of Endocrinology, Metabolism, Hematological Science and Therapeutics,
+ Yamaguchi University, Graduate School of Medicine, Ube, Japan.
+FAU - Nakabayashi, Hiroko
+AU - Nakabayashi H
+AD - Department of Endocrinology, Metabolism, Hematological Science and Therapeutics,
+ Yamaguchi University, Graduate School of Medicine, Ube, Japan.
+FAU - Nagao, Yuko
+AU - Nagao Y
+AD - Department of Endocrinology, Metabolism, Hematological Science and Therapeutics,
+ Yamaguchi University, Graduate School of Medicine, Ube, Japan.
+FAU - Akiyama, Masaru
+AU - Akiyama M
+AD - Department of Endocrinology, Metabolism, Hematological Science and Therapeutics,
+ Yamaguchi University, Graduate School of Medicine, Ube, Japan.
+FAU - Taguchi, Akihiko
+AU - Taguchi A
+AD - Department of Endocrinology, Metabolism, Hematological Science and Therapeutics,
+ Yamaguchi University, Graduate School of Medicine, Ube, Japan.
+FAU - Yorimoto, Kaito
+AU - Yorimoto K
+AD - Department of Endocrinology, Metabolism, Hematological Science and Therapeutics,
+ Yamaguchi University, Graduate School of Medicine, Ube, Japan.
+FAU - Hamada, Risako
+AU - Hamada R
+AD - Department of Endocrinology, Metabolism, Hematological Science and Therapeutics,
+ Yamaguchi University, Graduate School of Medicine, Ube, Japan.
+FAU - Saeki, Issei
+AU - Saeki I
+AD - Department of Gastroenterology and Hepatology, Yamaguchi University, Graduate
+ School of Medicine, Ube, Japan.
+FAU - Yamamoto, Naoki
+AU - Yamamoto N
+AD - Yamaguchi University Health Science Center, Yamaguchi, Japan.
+FAU - Takami, Taro
+AU - Takami T
+AD - Department of Gastroenterology and Hepatology, Yamaguchi University, Graduate
+ School of Medicine, Ube, Japan.
+FAU - Watanabe, Kenji
+AU - Watanabe K
+AD - Yamaguchi University Center for Gene Research, Ube, Japan.
+FAU - Mizukami, Yoichi
+AU - Mizukami Y
+AD - Yamaguchi University Center for Gene Research, Ube, Japan.
+FAU - Ohta, Yasuharu
+AU - Ohta Y
+AUID- ORCID: 0000-0002-9117-6874
+AD - Department of Endocrinology, Metabolism, Hematological Science and Therapeutics,
+ Yamaguchi University, Graduate School of Medicine, Ube, Japan.
+LA - eng
+PT - Journal Article
+DEP - 20250818
+PL - England
+TA - Endocrinol Diabetes Metab Case Rep
+JT - Endocrinology, diabetes & metabolism case reports
+JID - 101618943
+PMC - PMC12492301
+OTO - NOTNLM
+OT - MASLD
+OT - carboxyl ester lipase
+OT - early-onset diabetes
+OT - low utilization of lipid
+OT - pancreatic exocrine function
+COIS- The authors declare that there is no conflict of interest that could be perceived
+ as prejudicing the impartiality of the work reported.
+EDAT- 2025/08/22 00:44
+MHDA- 2025/08/22 00:45
+PMCR- 2025/08/18
+CRDT- 2025/08/21 19:13
+PHST- 2025/01/27 00:00 [received]
+PHST- 2025/07/31 00:00 [accepted]
+PHST- 2025/08/22 00:45 [medline]
+PHST- 2025/08/22 00:44 [pubmed]
+PHST- 2025/08/21 19:13 [entrez]
+PHST- 2025/08/18 00:00 [pmc-release]
+AID - e240151 [pii]
+AID - EDM-24-0151 [pii]
+AID - 10.1530/EDM-24-0151 [doi]
+PST - epublish
+SO - Endocrinol Diabetes Metab Case Rep. 2025 Aug 18;2025(3):e240151. doi:
+ 10.1530/EDM-24-0151. Print 2025 Aug 1.
+
+PMID- 40641008
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20251027
+LR - 20251121
+IS - 1552-4604 (Electronic)
+IS - 0091-2700 (Print)
+IS - 0091-2700 (Linking)
+VI - 65
+IP - 11
+DP - 2025 Nov
+TI - Characterizing Cellular Expansion of Idecabtagene Vicleucel and Association with
+ Clinical Efficacy and Safety in Patients with Triple-Class-Exposed
+ Relapsed/Refractory Multiple Myeloma.
+PG - 1568-1576
+LID - 10.1002/jcph.70075 [doi]
+AB - Idecabtagene vicleucel (ide-cel, ABECMA) is an autologous, B-cell maturation
+ antigen-directed, chimeric antigen receptor (CAR) T-cell therapy, which has
+ demonstrated significantly improved progression-free survival (PFS) and overall
+ response rate (ORR) in patients with triple-class-exposed relapsed/refractory
+ multiple myeloma (TCE RRMM). Here, we characterize cellular expansion of ide-cel
+ in vivo and further evaluate associations between cellular expansion and clinical
+ efficacy and safety endpoints. The exposure parameters of ide-cel were evaluated
+ through non-compartmental analysis methods using the time course data of CAR
+ transgene copy numbers collected from the ide-cel arm of Study KarMMa-3
+ (NCT03651128). Multivariable regression analyses were conducted between the
+ exposure parameters and clinical responses to characterize relationships between
+ cellular expansion in vivo and clinical outcomes and to evaluate potential
+ effects of covariates on the exposure-response (E-R) relationships. There appears
+ to be lack of a strong association between actual ide-cel dose and cellular
+ expansion at the dose range evaluated in Study KarMMa-3. The multivariable E-R
+ regression models suggest positive relationships between cellular expansion and
+ clinical efficacy and safety endpoints, with higher exposure associated with
+ longer PFS, higher ORR, and higher rates of cytokine release syndrome requiring
+ tocilizumab or corticosteroids. The current analyses do not identify any
+ clinically relevant covariate effects on the E-R relationships. The positive
+ exposure-response relationships were found to be overall similar between KarMMa-3
+ and a previous study KarMMa. The modeling analyses, paired with clinical data,
+ support extending the dose range from previously approved 300-460 x 10(6) CAR+ T
+ cells to 300-510 x 10(6) CAR+ T cells for TCE RRMM patients.
+CI - (c) 2025 The Author(s). The Journal of Clinical Pharmacology published by Wiley
+ Periodicals LLC on behalf of American College of Clinical Pharmacology.
+FAU - Wu, Fan
+AU - Wu F
+AD - Translational Medical and Clinical Pharmacology, Bristol Myers Squibb, Princeton,
+ NJ, USA.
+FAU - Zheng, Xirong
+AU - Zheng X
+AD - Translational Medical and Clinical Pharmacology, Bristol Myers Squibb, Princeton,
+ NJ, USA.
+FAU - Burnett, Joseph
+AU - Burnett J
+AD - Translational Medical and Clinical Pharmacology, Bristol Myers Squibb, Princeton,
+ NJ, USA.
+FAU - Masilamani, Madhan
+AU - Masilamani M
+AD - Translational Medical and Clinical Pharmacology, Bristol Myers Squibb, Princeton,
+ NJ, USA.
+FAU - Zhang, Wanying
+AU - Zhang W
+AD - Translational Medical and Clinical Pharmacology, Bristol Myers Squibb, Princeton,
+ NJ, USA.
+FAU - Zhong, Xiaobo
+AU - Zhong X
+AD - Global Biometric Sciences, Bristol Myers Squibb, Princeton, NJ, USA.
+FAU - Caia, Andrea
+AU - Caia A
+AD - Clinical Science, Bristol Myers Squibb, Boudry, Switzerland.
+FAU - Cook, Mark
+AU - Cook M
+AD - Clinical Development, Bristol Myers Squibb, Boudry, Switzerland.
+FAU - Piasecki, Julia
+AU - Piasecki J
+AD - Cancer Immunology and Cell Therapy, Bristol Myers Squibb, Seattle, WA, USA.
+FAU - Kondic, Anna
+AU - Kondic A
+AD - Translational Medical and Clinical Pharmacology, Bristol Myers Squibb, Princeton,
+ NJ, USA.
+FAU - Lamba, Manisha
+AU - Lamba M
+AD - Translational Medical and Clinical Pharmacology, Bristol Myers Squibb, Princeton,
+ NJ, USA.
+FAU - Zhou, Jian
+AU - Zhou J
+AD - Translational Medical and Clinical Pharmacology, Bristol Myers Squibb, Princeton,
+ NJ, USA.
+LA - eng
+PT - Clinical Trial, Phase III
+PT - Journal Article
+PT - Multicenter Study
+PT - Randomized Controlled Trial
+DEP - 20250710
+PL - England
+TA - J Clin Pharmacol
+JT - Journal of clinical pharmacology
+JID - 0366372
+RN - 0 (Antigens, CD19)
+RN - 0 (Biological Products)
+RN - 8PX1X7UG4D (idecabtagene vicleucel)
+RN - 0 (Receptors, Chimeric Antigen)
+SB - IM
+MH - Adult
+MH - Aged
+MH - Female
+MH - Humans
+MH - Male
+MH - Middle Aged
+MH - Antigens, CD19
+MH - *Biological Products/adverse effects/therapeutic use
+MH - *Immunotherapy, Adoptive/methods/adverse effects
+MH - *Multiple Myeloma/therapy/drug therapy/immunology
+MH - Progression-Free Survival
+MH - Receptors, Chimeric Antigen/therapeutic use
+MH - Treatment Outcome
+PMC - PMC12555096
+OTO - NOTNLM
+OT - CAR T
+OT - cellular kinetics
+OT - exposure-response
+OT - multiple myeloma
+COIS- Xirong Zheng, Joseph Burnett, Madhan Masilamani, Wanying Zhang, Xiaobo Zhong,
+ Andrea Caia, Mark Cook, Julia Piasecki, Anna Kondic, and Jian Zhou are employees
+ and stockholders of Bristol Myers Squibb. Fan Wu and Manisha Lamba were employees
+ and stockholders of Bristol Myers Squibb during the preparation of this
+ manuscript. Fan Wu is currently an employee of Deerfield Management Company, and
+ Manisha Lamba is currently an employee of Pfizer.
+EDAT- 2025/07/11 06:27
+MHDA- 2025/10/27 13:28
+PMCR- 2025/10/27
+CRDT- 2025/07/11 00:22
+PHST- 2025/02/26 00:00 [received]
+PHST- 2025/06/16 00:00 [accepted]
+PHST- 2025/10/27 13:28 [medline]
+PHST- 2025/07/11 06:27 [pubmed]
+PHST- 2025/07/11 00:22 [entrez]
+PHST- 2025/10/27 00:00 [pmc-release]
+AID - JCPH70075 [pii]
+AID - 10.1002/jcph.70075 [doi]
+PST - ppublish
+SO - J Clin Pharmacol. 2025 Nov;65(11):1568-1576. doi: 10.1002/jcph.70075. Epub 2025
+ Jul 10.
+
+PMID- 39710966
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20250215
+LR - 20250529
+IS - 1365-2141 (Electronic)
+IS - 0007-1048 (Print)
+IS - 0007-1048 (Linking)
+VI - 206
+IP - 2
+DP - 2025 Feb
+TI - Brexucabtagene autoleucel in-vivo expansion and BTKi refractoriness have a
+ negative influence on progression-free survival in mantle cell lymphoma: Results
+ from CART-SIE study.
+PG - 644-651
+LID - 10.1111/bjh.19961 [doi]
+AB - Brexucabtagene autoleucel (brexu-cel) has revolutionized the treatment of
+ patients affected by mantle cell lymphomas. In this prospective, observational
+ multicentre study, we evaluated 106 patients, with longitudinal brexu-cel
+ kinetics in peripheral blood monitored in 61 of them. Clinical outcomes and
+ toxicities are consistent with previous real-world evidence studies. Notably,
+ beyond established poor prognostic factors-such as blastoid variant and elevated
+ lactate dehydrogenase-Bruton tyrosine-kinase inhibitors (BTKi) refractoriness and
+ platelet count emerged as significant predictors of survival. Specifically, the
+ 1-year overall survival was 56% in BTKi-refractory patients compared to 92% in
+ BTKi-relapsed patients (p = 0.0001). Our study also demonstrated that in-vivo
+ monitoring of brexu-cel expansion is feasible and correlates with
+ progression-free survival and toxicities. Progression-free survival at 1 year was
+ 74% in patients categorized as strong expanders, based on brexu-cel peak
+ concentration, versus 54% in poor expanders (p = 0.02). Furthermore, in-vivo
+ expansion helped identify a high-risk group of non-responders, those with
+ progressive or stable disease at the 90-day post-infusion evaluation (OR = 4.7,
+ 95% CI = 1.1-34, p = 0.04) characterized by dismal outcomes. When integrated with
+ other clinical factors, monitoring brexu-cel expansion could assist in
+ recognizing patients at high risk of early relapse.
+CI - (c) 2024 The Author(s). British Journal of Haematology published by British Society
+ for Haematology and John Wiley & Sons Ltd.
+FAU - Stella, Federico
+AU - Stella F
+AUID- ORCID: 0000-0003-3401-1309
+AD - Hematology, School of Medicine, Universita degli Studi di Milano, Milan, Italy.
+AD - Division of Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan,
+ Italy.
+FAU - Chiappella, Annalisa
+AU - Chiappella A
+AUID- ORCID: 0000-0002-2977-0098
+AD - Division of Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan,
+ Italy.
+FAU - Magni, Martina
+AU - Magni M
+AUID- ORCID: 0000-0001-9458-5836
+AD - Division of Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan,
+ Italy.
+FAU - Bonifazi, Francesca
+AU - Bonifazi F
+AUID- ORCID: 0000-0003-1544-9911
+AD - IRCCS Azienda Ospedaliero-Universitaria di Bologna, Istituto di Ematologia
+ "Seragnoli", Bologna, Italy.
+FAU - De Philippis, Chiara
+AU - De Philippis C
+AD - Department of Oncology/Hematology, IRCCS Humanitas Research Hospital, Milan,
+ Italy.
+FAU - Musso, Maurizio
+AU - Musso M
+AD - Dipartimento Oncologico "La Maddalena", UOC di Oncoematologia e TMO, Palermo,
+ Italy.
+FAU - Cutini, Ilaria
+AU - Cutini I
+AUID- ORCID: 0000-0003-3721-0004
+AD - SOD Terapie Cellulari e Medicina Trasfusionale, AAD Trapianto di midollo osseo,
+ Ospedale Careggi, Florence, Italy.
+FAU - Ljevar, Silva
+AU - Ljevar S
+AD - Department of Data Science, Unit of Biostatistics for Clinical Research,
+ Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
+FAU - Barbui, Anna Maria
+AU - Barbui AM
+AD - Azienda Socio Sanitaria Territoriale Papa Giovanni XXIII, Bergamo, Italy.
+FAU - Farina, Mirko
+AU - Farina M
+AD - Unit of Blood Disease and Bone Marrow Transplantation, Unit of Hematology,
+ University of Brescia, ASST Spedali Civili di Brescia, Brescia, Italy.
+FAU - Martino, Massimo
+AU - Martino M
+AD - Hematology and Stem Cell Transplantation and Cellular Therapies Unit (CTMO),
+ Department of Hemato-Oncology and Radiotherapy, Grande Ospedale Metropolitano
+ "Bianchi-Melacrino-Morelli", Reggio Calabria, Italy.
+FAU - Massaia, Massimo
+AU - Massaia M
+AD - Division of Hematology-AO S. Croce e Carle, Cuneo and Laboratory of Blood Tumor
+ Immunology, Molecular Biotechnology Center "Guido Tarone", University of Torino,
+ Torino, Italy.
+FAU - Grillo, Giovanni
+AU - Grillo G
+AD - Dipartimento di Ematologia e trapianto di midollo, ASST Grande Ospedale
+ Metropolitano Niguarda, Milan, Italy.
+FAU - Angelillo, Piera
+AU - Angelillo P
+AD - IRCCS Ospedale San Raffaele Milano, Milan, Italy.
+FAU - Botto, Barbara
+AU - Botto B
+AD - SC Ematologia, AOU Citta della Salute e della Scienza, Torino, Italy.
+FAU - Patriarca, Francesca
+AU - Patriarca F
+AD - Haematology and Stem Cell Transplantation Unit, Azienda Sanitaria Universitaria
+ Friuli Centrale, Udine, Italy.
+FAU - Krampera, Mauro
+AU - Krampera M
+AD - Hematology and Bone Marrow Transplant Unit, Section of Biomedicine of Innovation,
+ Department of Engineering for Innovative Medicine (DIMI), University of Verona,
+ Verona, Italy.
+FAU - Arcaini, Luca
+AU - Arcaini L
+AUID- ORCID: 0000-0002-9504-991X
+AD - Department of Molecular Medicine, University of Pavia, Pavia, Italy.
+AD - Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
+FAU - Tisi, Maria Chiara
+AU - Tisi MC
+AD - Hematology Unit, San Bortolo Hospital, Vicenza, Italy.
+FAU - Zinzani, Pierluigi
+AU - Zinzani P
+AUID- ORCID: 0000-0002-2112-2651
+AD - IRCCS Azienda Ospedaliero-Universitaria di Bologna, Istituto di Ematologia
+ "Seragnoli", Bologna, Italy.
+FAU - Sora, Federica
+AU - Sora F
+AD - Sezione di Ematologia, Dipartimento di Scienze Radiologiche ed Ematologiche,
+ Universita Cattolica del Sacro Cuore, Rome, Italy.
+FAU - Bramanti, Stefania
+AU - Bramanti S
+AD - Department of Oncology/Hematology, IRCCS Humanitas Research Hospital, Milan,
+ Italy.
+FAU - Pennisi, Martina
+AU - Pennisi M
+AD - Division of Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan,
+ Italy.
+FAU - Carniti, Cristiana
+AU - Carniti C
+AUID- ORCID: 0000-0003-1039-1757
+AD - Division of Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan,
+ Italy.
+FAU - Corradini, Paolo
+AU - Corradini P
+AUID- ORCID: 0000-0002-9186-1353
+AD - Hematology, School of Medicine, Universita degli Studi di Milano, Milan, Italy.
+AD - Division of Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan,
+ Italy.
+LA - eng
+GR - Associazione Italiana contro le Leucemie-linfomi e mieloma" (AIL) Milano/
+GR - Societa Italiana di Ematologia/
+GR - PNC-E3-2022-23683269-PNC-HLS-TA/Italian Ministry of Health/
+GR - PNRR-MAD-2022-12376059/Italian Ministry of Health/
+GR - Fondazione IRCCS Istituto Nazionale dei Tumori/
+GR - IG2024-ID.31005project-P.I.CorradiniPaolo/Associazione Italiana per la Ricerca
+ sul Cancro/
+PT - Journal Article
+PT - Multicenter Study
+PT - Observational Study
+DEP - 20241222
+PL - England
+TA - Br J Haematol
+JT - British journal of haematology
+JID - 0372544
+RN - 0 (Protein Kinase Inhibitors)
+SB - IM
+MH - Humans
+MH - *Lymphoma, Mantle-Cell/therapy/mortality/drug therapy
+MH - Male
+MH - Female
+MH - Middle Aged
+MH - Aged
+MH - Progression-Free Survival
+MH - Prospective Studies
+MH - *Protein Kinase Inhibitors/therapeutic use/pharmacology
+MH - Aged, 80 and over
+MH - *Immunotherapy, Adoptive/methods
+MH - Adult
+PMC - PMC11829141
+OTO - NOTNLM
+OT - CAR T-cell
+OT - brexu-cel
+OT - in vivo expansion
+OT - mantle cell lymphoma
+OT - real world
+COIS- Federico Stella-nothing to disclose; Annalisa Chiappella-reports other support
+ from Gilead Sciences, Ideogen, Roche, Secura Bio, Takeda, AbbVie, Eli Lilly and
+ Company, Incyte, Janssen-Cilag, and Novartis outside the submitted work; Martina
+ Magni-nothing to disclose; Francesca Bonifazi-fees from Novartis and Kite-Gilead;
+ Chiara De Philippis-nothing to disclose; Maurizio Musso-advisory board
+ Kite/Gilead; Novartis; BMS. Speakers bureau: Kite/Gilead; Novartis; BMS; Ilaria
+ Cutini-nothing to disclose, Silva Ljevar-nothing to disclose; Anna Maria
+ Barbui-nothing to disclose; Mirko Farina-nothing to disclose; Massimo
+ Martino-advisory board Kite/Gilead; Novartis; BMS. Speakers bureau: Kite/Gilead;
+ Novartis; BMS; Massimo Massaia-nothing to disclose; Giovanni Grillo-nothing to
+ disclose; Piera Angelillo-Incyte, Barbara Botto-nothing to disclose, Francesca
+ Patriarca-Sanofi, Menarini, Novartis, BMS; Mauro Krampera-Advisory boards and
+ honoraria for lectures/educational events: Kite Gilead, Novartis, Janssen-Cilag,
+ Incyte, AbbVie, BeiGene, Menarini StemLine, Roche; Luca Arcaini-Honoraria: EUSA
+ Pharma, Novartis. Advisory boards for Roche, Janssen-Cilag, Verastem, Incyte,
+ EUSA Pharma, Celgene/Bristol Myers Squibb, Kite/Gilead, ADC Therapeutics,
+ Novartis; Maria Chiara Tisi-personal fees from Novartis, Gilead, Bristol Myers
+ Squibb, Eli Lilly and Company, Janssen, Sobi and Incyte; Pierluigi
+ Zinzani-Consultant: MSD, Eusapharma, Novartis; Advisory boards: ADC Therapeutics,
+ Astrazeneca, BeiGene, BMS, Celltrion, Eusapharma, Gilead, Incyte, Janssen-Cilag,
+ KyowaKirin, MSD, Novartis, Roche, Sandoz, SecuraBio, Servier, Takeda; speakers
+ bureau: Astrazeneca, Beigene, BMS, Celltrion, Eusapharma, Gilead, Incyte,
+ Janssen-Cilag, Kyowa-Kirin, MSD, Novartis, Roche, Servier, Takeda; Federica
+ Sora-nothing to disclose; Stefania Bramanti-Speaker bureau: Bms; Gilead,
+ Novartis, Advisory Board Novartis, Travel Accomodation Novartis, Roche, Martina
+ Pennisi-nothing to disclose, Cristiana Carniti-nothing to disclose, Paolo
+ Corradini-Advisory boards: AbbVie, ADC Therapeutics, Amgen, BeiGene, Celgene,
+ Daiichi Sankyo, Gilead/Kite, GSK, Incyte, Janssen, KyowaKirin, Nerviano Medical
+ Science, Novartis, Roche, Sanofi, Takeda; honoraria for lectures: AbbVie, Amgen,
+ Celgene, Gilead/Kite, Janssen, Novartis, Roche, Sanofi, Takeda.
+EDAT- 2024/12/23 06:21
+MHDA- 2025/02/15 15:11
+PMCR- 2025/02/15
+CRDT- 2024/12/23 01:13
+PHST- 2024/10/29 00:00 [received]
+PHST- 2024/12/11 00:00 [accepted]
+PHST- 2025/02/15 15:11 [medline]
+PHST- 2024/12/23 06:21 [pubmed]
+PHST- 2024/12/23 01:13 [entrez]
+PHST- 2025/02/15 00:00 [pmc-release]
+AID - BJH19961 [pii]
+AID - 10.1111/bjh.19961 [doi]
+PST - ppublish
+SO - Br J Haematol. 2025 Feb;206(2):644-651. doi: 10.1111/bjh.19961. Epub 2024 Dec 22.
+
+PMID- 38483348
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20240519
+LR - 20260127
+IS - 1460-2083 (Electronic)
+IS - 0964-6906 (Print)
+IS - 0964-6906 (Linking)
+VI - 33
+IP - 11
+DP - 2024 May 18
+TI - Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene
+ are benign and also likely to arise somatically in the exocrine pancreas.
+PG - 1001-1014
+LID - 10.1093/hmg/ddae034 [doi]
+AB - The CEL gene encodes carboxyl ester lipase, a pancreatic digestive enzyme. CEL is
+ extremely polymorphic due to a variable number tandem repeat (VNTR) located in
+ the last exon. Single-base deletions within this VNTR cause the inherited
+ disorder MODY8, whereas little is known about VNTR single-base insertions in
+ pancreatic disease. We therefore mapped CEL insertion variants (CEL-INS) in 200
+ Norwegian patients with pancreatic neoplastic disorders. Twenty-eight samples
+ (14.0%) carried CEL-INS alleles. Most common were insertions in repeat 9 (9.5%),
+ which always associated with a VNTR length of 13 repeats. The combined INS allele
+ frequency (0.078) was similar to that observed in a control material of 416
+ subjects (0.075). We performed functional testing in HEK293T cells of a set of
+ CEL-INS variants, in which the insertion site varied from the first to the 12th
+ VNTR repeat. Lipase activity showed little difference among the variants.
+ However, CEL-INS variants with insertions occurring in the most proximal repeats
+ led to protein aggregation and endoplasmic reticulum stress, which upregulated
+ the unfolded protein response. Moreover, by using a CEL-INS-specific antibody, we
+ observed patchy signals in pancreatic tissue from humans without any CEL-INS
+ variant in the germline. Similar pancreatic staining was seen in knock-in mice
+ expressing the most common human CEL VNTR with 16 repeats. CEL-INS proteins may
+ therefore be constantly produced from somatic events in the normal pancreatic
+ parenchyma. This observation along with the high population frequency of CEL-INS
+ alleles strongly suggests that these variants are benign, with a possible
+ exception for insertions in VNTR repeats 1-4.
+CI - (c) The Author(s) 2024. Published by Oxford University Press.
+FAU - Brekke, Ranveig S
+AU - Brekke RS
+AUID- ORCID: 0000-0003-4824-9190
+AD - Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Jonas Lies vei 91B, 5021 Bergen, Norway.
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, Jonas Lies vei 87, 5021 Bergen, Norway.
+AD - Department of Medical Genetics, Haukeland University Hospital, Jonas Lies vei
+ 91B, 5021 Bergen, Norway.
+FAU - Gravdal, Anny
+AU - Gravdal A
+AD - Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Jonas Lies vei 91B, 5021 Bergen, Norway.
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, Jonas Lies vei 87, 5021 Bergen, Norway.
+AD - Department of Medical Genetics, Haukeland University Hospital, Jonas Lies vei
+ 91B, 5021 Bergen, Norway.
+FAU - El Jellas, Khadija
+AU - El Jellas K
+AD - Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Jonas Lies vei 91B, 5021 Bergen, Norway.
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, Jonas Lies vei 87, 5021 Bergen, Norway.
+FAU - Curry, Grace E
+AU - Curry GE
+AD - Department of Pediatrics, Washington University School of Medicine, Campus Box
+ 8208, 660 South Euclid Ave, St. Louis, MO 63110, USA.
+FAU - Lin, Jianguo
+AU - Lin J
+AD - Department of Pediatrics, Washington University School of Medicine, Campus Box
+ 8208, 660 South Euclid Ave, St. Louis, MO 63110, USA.
+FAU - Wilhelm, Steven J
+AU - Wilhelm SJ
+AD - Department of Pediatrics, Washington University School of Medicine, Campus Box
+ 8208, 660 South Euclid Ave, St. Louis, MO 63110, USA.
+FAU - Steine, Solrun J
+AU - Steine SJ
+AD - Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Jonas Lies vei 91B, 5021 Bergen, Norway.
+FAU - Mas, Eric
+AU - Mas E
+AD - Cancer Research Center of Marseille, Aix Marseille University, CNRS, INSERM,
+ Institut Paoli-Calmettes, CRCM, 27 Bd Lei Roure, 13273 Marseille Cedex 09,
+ France.
+FAU - Johansson, Stefan
+AU - Johansson S
+AUID- ORCID: 0000-0002-2298-7008
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, Jonas Lies vei 87, 5021 Bergen, Norway.
+AD - Department of Medical Genetics, Haukeland University Hospital, Jonas Lies vei
+ 91B, 5021 Bergen, Norway.
+FAU - Lowe, Mark E
+AU - Lowe ME
+AD - Department of Pediatrics, Washington University School of Medicine, Campus Box
+ 8208, 660 South Euclid Ave, St. Louis, MO 63110, USA.
+FAU - Johansson, Bente B
+AU - Johansson BB
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, Jonas Lies vei 87, 5021 Bergen, Norway.
+FAU - Xiao, Xunjun
+AU - Xiao X
+AD - Department of Pediatrics, Washington University School of Medicine, Campus Box
+ 8208, 660 South Euclid Ave, St. Louis, MO 63110, USA.
+FAU - Fjeld, Karianne
+AU - Fjeld K
+AD - Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Jonas Lies vei 91B, 5021 Bergen, Norway.
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, Jonas Lies vei 87, 5021 Bergen, Norway.
+AD - Department of Medical Genetics, Haukeland University Hospital, Jonas Lies vei
+ 91B, 5021 Bergen, Norway.
+FAU - Molven, Anders
+AU - Molven A
+AUID- ORCID: 0000-0003-1847-3079
+AD - Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Jonas Lies vei 91B, 5021 Bergen, Norway.
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, Jonas Lies vei 87, 5021 Bergen, Norway.
+AD - Department of Pathology and Section for Cancer Genomics, Haukeland University
+ Hospital, Jonas Lies vei 83, Bergen, Norway.
+LA - eng
+GR - National Pancreas Foundation/
+GR - University of Bergen/
+GR - R01 DK124415/DK/NIDDK NIH HHS/United States
+GR - 212734-2019/Norwegian Cancer Society/
+GR - 912057/Western Norway Regional Health Authority/
+GR - 289534/Research Council of Norway/
+GR - R01 DK124415/NIDDK/NH/NIH HHS/United States
+PT - Journal Article
+PT - Research Support, N.I.H., Extramural
+PT - Research Support, Non-U.S. Gov't
+PL - England
+TA - Hum Mol Genet
+JT - Human molecular genetics
+JID - 9208958
+RN - EC 3.1.1.3 (Lipase)
+RN - EC 3.1.1.3 (CEL protein, human)
+SB - IM
+MH - Humans
+MH - *Minisatellite Repeats/genetics
+MH - Animals
+MH - Mice
+MH - *Pancreas, Exocrine/metabolism/enzymology
+MH - HEK293 Cells
+MH - Mutagenesis, Insertional/genetics
+MH - Alleles
+MH - Pancreatic Neoplasms/genetics/pathology/enzymology
+MH - Gene Frequency
+MH - Male
+MH - Female
+MH - Lipase/genetics
+PMC - PMC11102595
+OTO - NOTNLM
+OT - carboxyl ester lipase
+OT - pancreatic cancer
+OT - single-base insertions
+OT - variable number tandem repeat
+EDAT- 2024/03/14 12:46
+MHDA- 2024/05/19 12:42
+PMCR- 2024/03/14
+CRDT- 2024/03/14 11:23
+PHST- 2023/11/24 00:00 [received]
+PHST- 2024/02/14 00:00 [revised]
+PHST- 2024/02/27 00:00 [accepted]
+PHST- 2024/05/19 12:42 [medline]
+PHST- 2024/03/14 12:46 [pubmed]
+PHST- 2024/03/14 11:23 [entrez]
+PHST- 2024/03/14 00:00 [pmc-release]
+AID - 7628593 [pii]
+AID - ddae034 [pii]
+AID - 10.1093/hmg/ddae034 [doi]
+PST - ppublish
+SO - Hum Mol Genet. 2024 May 18;33(11):1001-1014. doi: 10.1093/hmg/ddae034.
+
+PMID- 38473919
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20240314
+LR - 20240315
+IS - 1422-0067 (Electronic)
+IS - 1422-0067 (Linking)
+VI - 25
+IP - 5
+DP - 2024 Feb 26
+TI - Unlocking Predictive Power: Quantitative Assessment of CAR-T Expansion with
+ Digital Droplet Polymerase Chain Reaction (ddPCR).
+LID - 10.3390/ijms25052673 [doi]
+LID - 2673
+AB - Flow cytometry (FCM) and quantitative PCR (qPCR) are conventional methods for
+ assessing CAR-T expansion, while digital droplet PCR (ddPCR) is emerging as a
+ promising alternative. We monitored CAR-T transcript expansion in 40 B-NHL
+ patients post-infusion of CAR-T products (axi-cel; tisa-cel; and brexu-cel) with
+ both His-Tag FCM and ddPCR techniques. Sensitivity and predictive capacity for
+ efficacy and safety outcomes of ddPCR were analyzed and compared with FCM. A
+ significant correlation between CAR-T counts determined by FCM and CAR
+ transcripts assessed by ddPCR (p < 0.001) was observed. FCM revealed median
+ CD3+CAR+ cell counts at 7, 14, and 30 days post-infusion with no significant
+ differences. In contrast, ddPCR-measured median copies of CAR-T transcripts
+ demonstrated significant lower copy numbers in tisa-cel recipients compared to
+ the other products at day 7 and day 14. Patients with a peak of CAR transcripts
+ at day 7 exceeding 5000 copies/microg gDNA, termed "good CAR-T expanders", were
+ more likely to achieve a favorable response at 3 months (HR 10.79, 95% CI
+ 1.16-100.42, p = 0.036). Good CAR-T expanders showed superior progression-free
+ survival at 3, 6, and 12 months compared to poor CAR-T expanders (p = 0.088).
+ Those reaching a peak higher than 5000 copies/microg gDNA were more likely to
+ experience severe CRS and ICANS. DdPCR proves to be a practical method for
+ monitoring CAR-T expansion, providing quantitative information that better
+ predicts both treatment outcomes and toxicity.
+FAU - Galli, Eugenio
+AU - Galli E
+AUID- ORCID: 0000-0002-2839-916X
+AD - Dipartimento di Diagnostica per Immagini, Radioterapia Oncologica ed Ematologia,
+ Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168
+ Rome, Italy.
+FAU - Viscovo, Marcello
+AU - Viscovo M
+AD - Sezione di Ematologia, Dipartimento di Scienze Radiologiche ed Ematologiche,
+ Universita Cattolica del Sacro Cuore, 00168 Rome, Italy.
+FAU - Fosso, Federica
+AU - Fosso F
+AD - Dipartimento di Diagnostica per Immagini, Radioterapia Oncologica ed Ematologia,
+ Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168
+ Rome, Italy.
+FAU - Pansini, Ilaria
+AU - Pansini I
+AD - Sezione di Ematologia, Dipartimento di Scienze Radiologiche ed Ematologiche,
+ Universita Cattolica del Sacro Cuore, 00168 Rome, Italy.
+FAU - Di Cesare, Giacomo
+AU - Di Cesare G
+AD - Dipartimento di Diagnostica per Immagini, Radioterapia Oncologica ed Ematologia,
+ Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168
+ Rome, Italy.
+FAU - Iacovelli, Camilla
+AU - Iacovelli C
+AD - Dipartimento di Diagnostica per Immagini, Radioterapia Oncologica ed Ematologia,
+ Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168
+ Rome, Italy.
+FAU - Maiolo, Elena
+AU - Maiolo E
+AD - Dipartimento di Diagnostica per Immagini, Radioterapia Oncologica ed Ematologia,
+ Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168
+ Rome, Italy.
+FAU - Sora, Federica
+AU - Sora F
+AD - Dipartimento di Diagnostica per Immagini, Radioterapia Oncologica ed Ematologia,
+ Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168
+ Rome, Italy.
+AD - Sezione di Ematologia, Dipartimento di Scienze Radiologiche ed Ematologiche,
+ Universita Cattolica del Sacro Cuore, 00168 Rome, Italy.
+FAU - Hohaus, Stefan
+AU - Hohaus S
+AUID- ORCID: 0000-0002-5534-7197
+AD - Dipartimento di Diagnostica per Immagini, Radioterapia Oncologica ed Ematologia,
+ Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168
+ Rome, Italy.
+AD - Sezione di Ematologia, Dipartimento di Scienze Radiologiche ed Ematologiche,
+ Universita Cattolica del Sacro Cuore, 00168 Rome, Italy.
+FAU - Sica, Simona
+AU - Sica S
+AD - Dipartimento di Diagnostica per Immagini, Radioterapia Oncologica ed Ematologia,
+ Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168
+ Rome, Italy.
+AD - Sezione di Ematologia, Dipartimento di Scienze Radiologiche ed Ematologiche,
+ Universita Cattolica del Sacro Cuore, 00168 Rome, Italy.
+FAU - Bellesi, Silvia
+AU - Bellesi S
+AD - Dipartimento di Diagnostica per Immagini, Radioterapia Oncologica ed Ematologia,
+ Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168
+ Rome, Italy.
+FAU - Chiusolo, Patrizia
+AU - Chiusolo P
+AUID- ORCID: 0000-0002-1355-1587
+AD - Dipartimento di Diagnostica per Immagini, Radioterapia Oncologica ed Ematologia,
+ Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168
+ Rome, Italy.
+AD - Sezione di Ematologia, Dipartimento di Scienze Radiologiche ed Ematologiche,
+ Universita Cattolica del Sacro Cuore, 00168 Rome, Italy.
+LA - eng
+PT - Journal Article
+DEP - 20240226
+PL - Switzerland
+TA - Int J Mol Sci
+JT - International journal of molecular sciences
+JID - 101092791
+RN - 0 (Receptors, Chimeric Antigen)
+SB - IM
+MH - Humans
+MH - *Receptors, Chimeric Antigen
+MH - Polymerase Chain Reaction/methods
+MH - Treatment Outcome
+MH - Progression-Free Survival
+MH - Immunotherapy, Adoptive
+MH - *Lymphoma, Large B-Cell, Diffuse/therapy
+PMC - PMC10932155
+OTO - NOTNLM
+OT - B-cell lymphoma
+OT - CAR-T cells
+OT - digital droplet PCR
+COIS- E.G. received honoraria from Novartis and grant for meeting attendance from Kite
+ Gilead, Abbvie, and Novartis. S.H. received honoraria from Takeda, Roche, Incyte,
+ Ipsen, Kite Gilead, Novartis. F.S. received honoraria from Kite Gilead, Incyte,
+ Novartis, and BMS. The other authors declare no competing conflicts of interest.
+EDAT- 2024/03/13 06:46
+MHDA- 2024/03/14 06:46
+PMCR- 2024/02/26
+CRDT- 2024/03/13 01:22
+PHST- 2024/01/15 00:00 [received]
+PHST- 2024/02/16 00:00 [revised]
+PHST- 2024/02/20 00:00 [accepted]
+PHST- 2024/03/14 06:46 [medline]
+PHST- 2024/03/13 06:46 [pubmed]
+PHST- 2024/03/13 01:22 [entrez]
+PHST- 2024/02/26 00:00 [pmc-release]
+AID - ijms25052673 [pii]
+AID - ijms-25-02673 [pii]
+AID - 10.3390/ijms25052673 [doi]
+PST - epublish
+SO - Int J Mol Sci. 2024 Feb 26;25(5):2673. doi: 10.3390/ijms25052673.
+
+PMID- 38458477
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20240530
+LR - 20250825
+IS - 2666-6367 (Electronic)
+IS - 2666-6367 (Linking)
+VI - 30
+IP - 6
+DP - 2024 Jun
+TI - Early Chimeric Antigen Receptor T Cell Expansion Is Associated with Prolonged
+ Progression-Free Survival for Patients with Relapsed/Refractory Multiple Myeloma
+ Treated with Ide-Cel: A Retrospective Monocentric Study.
+PG - 630.e1-630.e8
+LID - S2666-6367(24)00253-7 [pii]
+LID - 10.1016/j.jtct.2024.03.003 [doi]
+AB - The outcomes of patients with relapsed and refractory multiple myeloma (RRMM)
+ previously treated with the 3 main classes of myeloma therapy-immunomodulatory
+ drugs, proteasome inhibitors, and anti-CD38 antibodies-remain poor. Recently,
+ based on the phase II pivotal KarMMa trial showing prolonged overall survival
+ (OS) and progression-free survival (PFS) in heavily treated patients,
+ idecabtagene vicleucel (ide-cel), a B cell maturation antigen (BCMA)-directed
+ chimeric antigen receptor (CAR) T cell therapy (CAR-T) product, was approved in
+ the United States for the treatment of RRMM. In France, since June 2021, an early
+ access program has authorized the use of ide-cel in the setting of RRMM (defined
+ as progressive myeloma after at least 3 previous regimens, including the 3 main
+ antimyeloma therapies). We report the first French experience through this early
+ access program in a retrospective study of 24 consecutive patients treated with
+ ide-cel at our institution. The patients were evaluated according to
+ International Myeloma Working Group criteria and by positron emission tomography
+ computed tomography (PET-CT) at 1, 3, 6, 9, and 12 months after ide-cel infusion.
+ Most patients had adverse cytogenetic abnormalities, and RRMM with
+ triple-refractory drugs were seen in 79%. Bridging therapy was required for 19 of
+ 24 patients. Before CAR-T cell infusion, lymphodepletion with fludarabine and
+ cyclophosphamide was systematically performed. The median follow-up was 15.2
+ months. At 3 months after ide-cel infusion, 92% of patients achieved at least a
+ partial response, and 50% achieved a complete response or better (>/=CR). At 6
+ months, 70% of patients had a persistent >/=CR. At 3 and 6 months, bone marrow
+ minimal residual disease (10(-6) level) was undetectable in 79% and 75% of
+ patients, respectively. At 6 months, CR as assessed by PET-CT was achieved in 15
+ of 20 patients (75%). The median PFS was 14.8 months, and median OS was not
+ reached. Notably, an expansion of circulating CAR-T cells to >180/mm(3) after
+ infusion was strongly associated with prolonged PFS. Additionally, the level of
+ soluble BCMA measured before infusion was identified as a prognostic factor for
+ PFS, likely correlated to the tumor burden. Grade 1-2 cytokine release syndrome
+ (CRS) occurred in 22 of 24 patients (92%). Only 1 patient (4%) experienced grade
+ >/=3 CRS. The occurrence of neurologic toxicity was infrequent (12.5%) and
+ reversible in all cases. Hematologic toxicity was relatively common, and
+ secondary hypogammaglobulinemia occurred in most patients. Infections (mostly
+ viral) were frequent but most often nonsevere. This study echoes the promising
+ results of the KarMMa trial and identifies possible prognostic indicators in RRMM
+ patients treated with ide-cel, potentially refining treatment strategies and
+ improving outcomes in this challenging context.
+CI - Copyright (c) 2024. Published by Elsevier Inc.
+FAU - Caillot, Leo
+AU - Caillot L
+AD - Clinical Hematology, CHU Dijon, Dijon, France.
+FAU - Sleiman, Emmanuel
+AU - Sleiman E
+AD - Clinical Hematology, CHU Dijon, Dijon, France.
+FAU - Lafon, Ingrid
+AU - Lafon I
+AD - Clinical Hematology, CHU Dijon, Dijon, France; Burgundy Cancer Institute, Dijon,
+ France.
+FAU - Chretien, Marie-Lorraine
+AU - Chretien ML
+AD - Clinical Hematology, CHU Dijon, Dijon, France; Burgundy Cancer Institute, Dijon,
+ France.
+FAU - Gueneau, Pauline
+AU - Gueneau P
+AD - Innovative Therapy Unit, Pharmacy, CHU Dijon, Dijon, France.
+FAU - Payssot, Alexandre
+AU - Payssot A
+AD - Hematology, Clinique du Parc, Castelnau Le Lez, France.
+FAU - Pedri, Romain
+AU - Pedri R
+AD - Clinical Hematology, CHU Dijon, Dijon, France.
+FAU - Lakomy, Daniela
+AU - Lakomy D
+AD - Specialized Biochemistry Laboratory, CHU Dijon, Dijon, France.
+FAU - Bailly, Francois
+AU - Bailly F
+AD - Hematology Laboratory, CHU Dijon, Dijon, France.
+FAU - Guy, Julien
+AU - Guy J
+AD - Hematology Laboratory, CHU Dijon, Dijon, France.
+FAU - Quenot, Jean-Pierre
+AU - Quenot JP
+AD - Intensive Care Medecine, CHU Dijon, Dijon, France.
+FAU - Avet-Loiseau, Herve
+AU - Avet-Loiseau H
+AD - Myeloma Genomics Unit, IUCT Oncopole, Toulouse, France.
+FAU - Caillot, Denis
+AU - Caillot D
+AD - Clinical Hematology, CHU Dijon, Dijon, France; Burgundy Cancer Institute, Dijon,
+ France. Electronic address: denis.caillot2024@gmail.com.
+LA - eng
+PT - Journal Article
+DEP - 20240307
+PL - United States
+TA - Transplant Cell Ther
+JT - Transplantation and cellular therapy
+JID - 101774629
+RN - 0 (Receptors, Chimeric Antigen)
+RN - 8PX1X7UG4D (idecabtagene vicleucel)
+RN - 0 (B-Cell Maturation Antigen)
+SB - IM
+MH - Humans
+MH - *Multiple Myeloma/therapy/mortality
+MH - Male
+MH - Middle Aged
+MH - Retrospective Studies
+MH - Female
+MH - Aged
+MH - *Receptors, Chimeric Antigen/therapeutic use
+MH - *Immunotherapy, Adoptive/methods/adverse effects
+MH - Progression-Free Survival
+MH - Adult
+MH - B-Cell Maturation Antigen
+MH - T-Lymphocytes/immunology
+MH - Aged, 80 and over
+OTO - NOTNLM
+OT - BCMA
+OT - CAR-T cell expansion
+OT - Ide-cel
+OT - RRMM
+EDAT- 2024/03/09 10:43
+MHDA- 2024/05/31 00:42
+CRDT- 2024/03/08 19:16
+PHST- 2023/12/07 00:00 [received]
+PHST- 2024/02/12 00:00 [revised]
+PHST- 2024/03/04 00:00 [accepted]
+PHST- 2024/05/31 00:42 [medline]
+PHST- 2024/03/09 10:43 [pubmed]
+PHST- 2024/03/08 19:16 [entrez]
+AID - S2666-6367(24)00253-7 [pii]
+AID - 10.1016/j.jtct.2024.03.003 [doi]
+PST - ppublish
+SO - Transplant Cell Ther. 2024 Jun;30(6):630.e1-630.e8. doi:
+ 10.1016/j.jtct.2024.03.003. Epub 2024 Mar 7.
+
+PMID- 36379850
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20221206
+LR - 20240608
+IS - 1424-3911 (Electronic)
+IS - 1424-3903 (Print)
+IS - 1424-3903 (Linking)
+VI - 22
+IP - 8
+DP - 2022 Dec
+TI - The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis
+ in mice.
+PG - 1099-1111
+LID - S1424-3903(22)00790-6 [pii]
+LID - 10.1016/j.pan.2022.11.003 [doi]
+AB - BACKGROUND & AIMS: The CEL gene encodes the digestive enzyme carboxyl ester
+ lipase. CEL-HYB1, a hybrid allele of CEL and its adjacent pseudogene CELP, is a
+ genetic variant suggested to increase the risk of chronic pancreatitis (CP). Our
+ aim was to develop a mouse model for CEL-HYB1 that enables studies of pancreatic
+ disease mechanisms. METHODS: We established a knock-in mouse strain where the
+ variable number of tandem repeat (VNTR) region of the endogenous mouse Cel gene
+ was substituted with the mutated VNTR of the human CEL-HYB1 allele. Heterozygous
+ and homozygous Cel-HYB1 mice and littermate wildtype controls were characterized
+ with respect to pancreatic pathology and function. RESULTS: We successfully
+ constructed a mouse model with pancreatic expression of a humanized CEL-HYB1
+ protein. The Cel-HYB1 mice spontaneously developed features of CP including
+ inflammation, acinar atrophy and fatty replacement, and the phenotype became more
+ pronounced as the animals aged. Moreover, Cel-HYB1 mice were normoglycemic at age
+ 6 months, whereas at 12 months they exhibited impaired glucose tolerance.
+ Immunostaining of pancreatic tissue indicated the formation of CEL protein
+ aggregates, and electron microscopy showed dilated endoplasmic reticulum.
+ Upregulation of the stress marker BiP/GRP78 was seen in pancreatic parenchyma
+ obtained both from Cel-HYB1 animals and from a human CEL-HYB1 carrier.
+ CONCLUSIONS: We have developed a new mouse model for CP that confirms the
+ pathogenicity of the human CEL-HYB1 variant. Our findings place CEL-HYB1 in the
+ group of genes that increase CP risk through protein misfolding-dependent
+ pathways.
+CI - Copyright (c) 2022 The Authors. Published by Elsevier B.V. All rights reserved.
+FAU - Fjeld, Karianne
+AU - Fjeld K
+AD - The Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Bergen, Norway; Center for Diabetes Research, Department of Clinical
+ Science, University of Bergen, Norway; Department of Medical Genetics, Haukeland
+ University Hospital, Bergen, Norway. Electronic address: karianne.fjeld@uib.no.
+FAU - Gravdal, Anny
+AU - Gravdal A
+AD - The Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Bergen, Norway; Center for Diabetes Research, Department of Clinical
+ Science, University of Bergen, Norway; Department of Medical Genetics, Haukeland
+ University Hospital, Bergen, Norway.
+FAU - Brekke, Ranveig S
+AU - Brekke RS
+AD - The Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Bergen, Norway; Center for Diabetes Research, Department of Clinical
+ Science, University of Bergen, Norway; Department of Medical Genetics, Haukeland
+ University Hospital, Bergen, Norway.
+FAU - Alam, Jahedul
+AU - Alam J
+AD - The Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Bergen, Norway; Center for Diabetes Research, Department of Clinical
+ Science, University of Bergen, Norway.
+FAU - Wilhelm, Steven J
+AU - Wilhelm SJ
+AD - Department of Pediatrics, Washington University School of Medicine, St. Louis,
+ MO, USA.
+FAU - El Jellas, Khadija
+AU - El Jellas K
+AD - The Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Bergen, Norway; Center for Diabetes Research, Department of Clinical
+ Science, University of Bergen, Norway.
+FAU - Pettersen, Helene N
+AU - Pettersen HN
+AD - The Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Bergen, Norway; Center for Diabetes Research, Department of Clinical
+ Science, University of Bergen, Norway.
+FAU - Lin, Jianguo
+AU - Lin J
+AD - Department of Pediatrics, Washington University School of Medicine, St. Louis,
+ MO, USA.
+FAU - Solheim, Marie H
+AU - Solheim MH
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, Norway.
+FAU - Steine, Solrun J
+AU - Steine SJ
+AD - The Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Bergen, Norway.
+FAU - Johansson, Bente B
+AU - Johansson BB
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, Norway.
+FAU - Njolstad, Pal R
+AU - Njolstad PR
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, Norway; Pediatric and Youth Clinic, Haukeland University Hospital,
+ Bergen, Norway.
+FAU - Verbeke, Caroline S
+AU - Verbeke CS
+AD - Department of Pathology, Oslo University Hospital Rikshospitalet, Oslo, Norway;
+ Department of Pathology, Institute of Clinical Medicine, University of Oslo,
+ Oslo, Norway.
+FAU - Xiao, Xunjun
+AU - Xiao X
+AD - Department of Pediatrics, Washington University School of Medicine, St. Louis,
+ MO, USA.
+FAU - Lowe, Mark E
+AU - Lowe ME
+AD - Department of Pediatrics, Washington University School of Medicine, St. Louis,
+ MO, USA.
+FAU - Molven, Anders
+AU - Molven A
+AD - The Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Bergen, Norway; Department of Pathology, Haukeland University Hospital,
+ Bergen, Norway; Section for Cancer Genomics, Haukeland University Hospital,
+ Bergen, Norway.
+LA - eng
+GR - R01 DK124415/DK/NIDDK NIH HHS/United States
+PT - Journal Article
+DEP - 20221109
+PL - Switzerland
+TA - Pancreatology
+JT - Pancreatology : official journal of the International Association of
+ Pancreatology (IAP) ... [et al.]
+JID - 100966936
+RN - EC 3.1.1.3 (Lipase)
+SB - IM
+MH - Humans
+MH - Mice
+MH - Animals
+MH - Aged
+MH - Infant
+MH - *Lipase/genetics
+MH - *Pancreatitis, Chronic/genetics
+MH - Alleles
+MH - Minisatellite Repeats
+MH - Risk Factors
+PMC - PMC11157984
+MID - NIHMS1996046
+OTO - NOTNLM
+OT - Carboxyl ester lipase
+OT - Chronic pancreatitis
+OT - Genetic risk factor
+OT - Knock-in mouse model
+OT - Variable number of tandem repeats
+COIS- Declaration of competing interest The authors declare no conflicts of interest.
+EDAT- 2022/11/16 06:00
+MHDA- 2022/12/07 06:00
+PMCR- 2024/06/07
+CRDT- 2022/11/15 22:06
+PHST- 2022/07/07 00:00 [received]
+PHST- 2022/10/31 00:00 [revised]
+PHST- 2022/11/04 00:00 [accepted]
+PHST- 2022/11/16 06:00 [pubmed]
+PHST- 2022/12/07 06:00 [medline]
+PHST- 2022/11/15 22:06 [entrez]
+PHST- 2024/06/07 00:00 [pmc-release]
+AID - S1424-3903(22)00790-6 [pii]
+AID - 10.1016/j.pan.2022.11.003 [doi]
+PST - ppublish
+SO - Pancreatology. 2022 Dec;22(8):1099-1111. doi: 10.1016/j.pan.2022.11.003. Epub
+ 2022 Nov 9.
+
+PMID- 35583610
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20220804
+LR - 20250728
+IS - 1557-3265 (Electronic)
+IS - 1078-0432 (Print)
+IS - 1078-0432 (Linking)
+VI - 28
+IP - 15
+DP - 2022 Aug 2
+TI - Phenotypic Composition of Commercial Anti-CD19 CAR T Cells Affects In Vivo
+ Expansion and Disease Response in Patients with Large B-cell Lymphoma.
+PG - 3378-3386
+LID - 10.1158/1078-0432.CCR-22-0164 [doi]
+AB - PURPOSE: In clinical trials, the expansion and persistence of chimeric antigen
+ receptor (CAR) T cells correlate with therapeutic efficacy. However, properties
+ of CAR T cells that enable their in vivo proliferation have still to be
+ consistently defined and the role of CAR T bag content has never been
+ investigated in a real-life setting. EXPERIMENTAL DESIGN: Residual cells obtained
+ after washing 61 anti-CD19 CAR T product bags were analyzed to identify
+ tisagenlecleucel/Tisa-cel and axicabtagene ciloleucel/Axi-cel phenotypic features
+ associated with postinfusion CAR T-cell in vivo expansion and with response and
+ survival. RESULTS: While Tisa-cel was characterized by a significant enrichment
+ in CAR+CD4+ T cells with central memory (P < 0.005) and effector (P < 0.005)
+ phenotypes and lower rates of CAR+CD8+ with effector memory (P < 0.005) and
+ naive-like (P < 0.05) phenotypes as compared with Axi-cel, the two products
+ displayed similar expansion kinetics. In vivo CAR T-cell expansion was influenced
+ by the presence of CAR T with a CD8+ T central memory signature (P < 0.005) in
+ both Tisa-cel and Axi-cel infusion products and was positively associated with
+ response and progression-free survival (P < 0.05). CONCLUSIONS: Our data indicate
+ that despite the great heterogeneity of Tisa-cel and Axi-cel products, the
+ differentiation status of the infused cells mediates CAR T-cell in vivo
+ proliferation that is necessary for antitumor response.
+CI - (c)2022 The Authors; Published by the American Association for Cancer Research.
+FAU - Monfrini, Chiara
+AU - Monfrini C
+AUID- ORCID: 0000-0001-8675-9066
+AD - Hematology Division, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano,
+ Italy.
+FAU - Stella, Federico
+AU - Stella F
+AUID- ORCID: 0000-0003-3401-1309
+AD - School of Medicine, Universita degli Studi di Milano, Italy.
+FAU - Aragona, Vanessa
+AU - Aragona V
+AUID- ORCID: 0000-0003-1300-9111
+AD - Hematology Division, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano,
+ Italy.
+FAU - Magni, Martina
+AU - Magni M
+AUID- ORCID: 0000-0001-9458-5836
+AD - Hematology Division, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano,
+ Italy.
+FAU - Ljevar, Silva
+AU - Ljevar S
+AUID- ORCID: 0000-0002-1151-1477
+AD - Department of Clinical Epidemiology and Trial Organization, Fondazione IRCCS
+ Istituto Nazionale dei Tumori, Milano, Italy.
+FAU - Vella, Cristina
+AU - Vella C
+AD - Hematology Division, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano,
+ Italy.
+FAU - Fardella, Eugenio
+AU - Fardella E
+AD - School of Medicine, Universita degli Studi di Milano, Italy.
+FAU - Chiappella, Annalisa
+AU - Chiappella A
+AD - Hematology Division, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano,
+ Italy.
+FAU - Nanetti, Francesca
+AU - Nanetti F
+AD - Hematology Division, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano,
+ Italy.
+FAU - Pennisi, Martina
+AU - Pennisi M
+AD - Hematology Division, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano,
+ Italy.
+FAU - Dodero, Anna
+AU - Dodero A
+AD - Hematology Division, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano,
+ Italy.
+FAU - Guidetti, Anna
+AU - Guidetti A
+AD - Hematology Division, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano,
+ Italy.
+AD - School of Medicine, Universita degli Studi di Milano, Italy.
+FAU - Corradini, Paolo
+AU - Corradini P
+AUID- ORCID: 0000-0002-9186-1353
+AD - Hematology Division, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano,
+ Italy.
+AD - School of Medicine, Universita degli Studi di Milano, Italy.
+FAU - Carniti, Cristiana
+AU - Carniti C
+AUID- ORCID: 0000-0003-1039-1757
+AD - Hematology Division, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano,
+ Italy.
+LA - eng
+PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
+PL - United States
+TA - Clin Cancer Res
+JT - Clinical cancer research : an official journal of the American Association for
+ Cancer Research
+JID - 9502500
+RN - 0 (Antigens, CD19)
+RN - 0 (Receptors, Chimeric Antigen)
+SB - IM
+MH - Antigens, CD19/therapeutic use
+MH - Humans
+MH - Immunotherapy, Adoptive
+MH - *Lymphoma, Large B-Cell, Diffuse/pathology
+MH - Phenotype
+MH - *Receptors, Chimeric Antigen/genetics
+MH - T-Lymphocytes
+PMC - PMC9662896
+EDAT- 2022/05/19 06:00
+MHDA- 2022/08/05 06:00
+PMCR- 2022/11/14
+CRDT- 2022/05/18 11:36
+PHST- 2022/01/17 00:00 [received]
+PHST- 2022/03/11 00:00 [revised]
+PHST- 2022/05/16 00:00 [accepted]
+PHST- 2022/05/19 06:00 [pubmed]
+PHST- 2022/08/05 06:00 [medline]
+PHST- 2022/05/18 11:36 [entrez]
+PHST- 2022/11/14 00:00 [pmc-release]
+AID - 699017 [pii]
+AID - CCR-22-0164 [pii]
+AID - 10.1158/1078-0432.CCR-22-0164 [doi]
+PST - ppublish
+SO - Clin Cancer Res. 2022 Aug 2;28(15):3378-3386. doi: 10.1158/1078-0432.CCR-22-0164.
+
+PMID- 35215948
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20220316
+LR - 20220316
+IS - 1999-4915 (Electronic)
+IS - 1999-4915 (Linking)
+VI - 14
+IP - 2
+DP - 2022 Feb 9
+TI - High Phenotypic Variation between an In Vitro-Passaged Fowl Adenovirus Serotype 1
+ (FAdV-1) and Its Virulent Progenitor Strain despite Almost Complete Sequence
+ Identity of the Whole Genomes.
+LID - 10.3390/v14020358 [doi]
+LID - 358
+AB - Adenoviral gizzard erosion is an emerging disease with negative impact on health
+ and production of chickens. In this study, we compared in vitro and in vivo
+ characteristics of a fowl adenovirus serotype 1 (FAdV-1), attenuated by 53
+ consecutive passages in primary chicken embryo liver (CEL) cell cultures
+ (11/7127-AT), with the virulent strain (11/7127-VT). Whole genome analysis
+ revealed near-complete sequence identity between the strains. However, a length
+ polymorphism in a non-coding adenine repeat sequence (11/7127-AT: 11 instead of
+ 9) immediately downstream of the hexon open reading frame was revealed. One-step
+ growth kinetics showed delayed multiplication of 11/7127-AT together with
+ significantly lower titers in cell culture (up to 4 log(10) difference),
+ indicating reduced replication efficiency in vitro. In vivo pathogenicity and
+ immunogenicity were determined in day-old specific pathogen-free layer chicks
+ inoculated orally with the respective viruses. In contrast to birds infected with
+ 11/7127-VT, birds infected with 11/7127-AT did not exhibit body weight loss or
+ severe pathological lesions in the gizzard. Virus detection rates, viral load in
+ organs and virus excretion were significantly lower in birds inoculated with
+ 11/7127-AT. Throughout the experimental period, these birds did not develop
+ measurable neutralizing antibodies, prevalent in birds in response to 11/7127-VT
+ infection. Differences in pathogenicity between the virulent FAdV-1 and the
+ attenuated strain could not be correlated to prominently discriminate genomic
+ features. We conclude that differential in vitro growth profiles indicate that
+ attenuation is linked to modulation of viral replication during interaction of
+ the virus with the host cells. Thus, hosts would be unable to prevent the rapid
+ replication of virulent FAdV leading to severe tissue damage, a phenomenon
+ broadly applicable to further FAdV serotypes, considering the substantial
+ intra-serotype virulence differences of FAdVs and the variation of diseases.
+FAU - Grafl, Beatrice
+AU - Grafl B
+AD - Clinic for Poultry and Fish Medicine, Department for Farm Animals and Veterinary
+ Public Health, University of Veterinary Medicine (Vetmeduni Vienna), 1210 Vienna,
+ Austria.
+FAU - Schachner, Anna
+AU - Schachner A
+AD - Christian Doppler Laboratory for Innovative Poultry Vaccines (IPOV), University
+ of Veterinary Medicine, 1210 Vienna, Austria.
+FAU - Hess, Michael
+AU - Hess M
+AD - Clinic for Poultry and Fish Medicine, Department for Farm Animals and Veterinary
+ Public Health, University of Veterinary Medicine (Vetmeduni Vienna), 1210 Vienna,
+ Austria.
+LA - eng
+PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
+DEP - 20220209
+PL - Switzerland
+TA - Viruses
+JT - Viruses
+JID - 101509722
+RN - 0 (Antibodies, Neutralizing)
+RN - 0 (Antibodies, Viral)
+SB - IM
+MH - Adenoviridae Infections/pathology/veterinary/virology
+MH - Animals
+MH - Antibodies, Neutralizing/blood
+MH - Antibodies, Viral/blood
+MH - Chick Embryo
+MH - Chickens
+MH - Fowl adenovirus A/*genetics/growth & development/immunology/*pathogenicity
+MH - Genome, Viral/*genetics
+MH - Gizzard, Avian/pathology/virology
+MH - Polymorphism, Genetic
+MH - Poultry Diseases/pathology/virology
+MH - Viral Load/genetics
+MH - Virulence/genetics
+MH - Virus Replication/genetics
+PMC - PMC8880033
+OTO - NOTNLM
+OT - attenuation
+OT - fowl adenovirus
+OT - genome
+OT - gizzard erosion
+OT - poultry
+COIS- The authors declare no conflict of interest.
+EDAT- 2022/02/27 06:00
+MHDA- 2022/03/17 06:00
+PMCR- 2022/02/09
+CRDT- 2022/02/26 01:07
+PHST- 2021/12/14 00:00 [received]
+PHST- 2022/01/21 00:00 [revised]
+PHST- 2022/02/07 00:00 [accepted]
+PHST- 2022/02/26 01:07 [entrez]
+PHST- 2022/02/27 06:00 [pubmed]
+PHST- 2022/03/17 06:00 [medline]
+PHST- 2022/02/09 00:00 [pmc-release]
+AID - v14020358 [pii]
+AID - viruses-14-00358 [pii]
+AID - 10.3390/v14020358 [doi]
+PST - epublish
+SO - Viruses. 2022 Feb 9;14(2):358. doi: 10.3390/v14020358.
+
+PMID- 35156195
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20220621
+LR - 20250728
+IS - 1532-6535 (Electronic)
+IS - 0009-9236 (Print)
+IS - 0009-9236 (Linking)
+VI - 112
+IP - 1
+DP - 2022 Jul
+TI - In Vivo Cellular Expansion of Lisocabtagene Maraleucel and Association With
+ Efficacy and Safety in Relapsed/Refractory Large B-Cell Lymphoma.
+PG - 81-89
+LID - 10.1002/cpt.2561 [doi]
+AB - Lisocabtagene maraleucel (liso-cel) is an autologous, CD19-directed, chimeric
+ antigen receptor T-cell product for the treatment of adult patients with relapsed
+ or refractory large B-cell lymphoma (LBCL) after 2 or more lines of systemic
+ therapy. In vivo cellular expansion after single-dose administration of liso-cel
+ has been characterized. In this article, in vivo liso-cel expansion in the
+ pivotal study TRANSCEND NHL 001 (ClinicalTrials.gov identifier, NCT02631044) was
+ further characterized to assess the relationship between in vivo cellular
+ expansion after single-dose administration of liso-cel and efficacy or safety
+ after adjusting for key baseline characteristics. Two bioanalytical methods,
+ quantitative polymerase chain reaction and flow cytometry, were used for the
+ assessment of cellular kinetics of liso-cel, which showed high concordance for in
+ vivo cellular expansion. Multivariable logistic regression analyses demonstrated
+ that higher in vivo cellular expansion of liso-cel was associated with a higher
+ overall response and complete response rate, and a higher incidence of cytokine
+ release syndrome and neurological events in patients with relapsed or refractory
+ LBCL. Age and tumor burden (by sum of the product of perpendicular diameters)
+ were likely to confound the relationship between in vivo cellular expansion and
+ efficacy, where the association became stronger after controlling for these
+ factors. Repeat dosing of liso-cel was tested in the study; however, in vivo
+ cellular expansion of liso-cel was lower after repeat dosing than after the
+ initial dose. These findings should enable a comprehensive understanding of the
+ in vivo cellular kinetics of liso-cel and the association with outcomes in
+ relapsed/refractory LBCL.
+CI - (c) 2022 Bristol Myers Squibb. Clinical Pharmacology & Therapeutics published by
+ Wiley Periodicals LLC on behalf of American Society for Clinical Pharmacology and
+ Therapeutics.
+FAU - Ogasawara, Ken
+AU - Ogasawara K
+AUID- ORCID: 0000-0002-4264-8927
+AD - Bristol Myers Squibb, Princeton, New Jersey, USA.
+FAU - Lymp, James
+AU - Lymp J
+AD - Bristol Myers Squibb, Seattle, Washington, USA.
+FAU - Mack, Timothy
+AU - Mack T
+AD - Bristol Myers Squibb, Princeton, New Jersey, USA.
+FAU - Dell'Aringa, Justine
+AU - Dell'Aringa J
+AD - Bristol Myers Squibb, Seattle, Washington, USA.
+FAU - Huang, Chang-Pin
+AU - Huang CP
+AD - Bristol Myers Squibb, Seattle, Washington, USA.
+FAU - Smith, Jeff
+AU - Smith J
+AD - Bristol Myers Squibb, Seattle, Washington, USA.
+FAU - Peiser, Leanne
+AU - Peiser L
+AD - Bristol Myers Squibb, Seattle, Washington, USA.
+FAU - Kostic, Ana
+AU - Kostic A
+AD - Bristol Myers Squibb, Seattle, Washington, USA.
+LA - eng
+SI - ClinicalTrials.gov/NCT02631044
+PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
+DEP - 20220320
+PL - United States
+TA - Clin Pharmacol Ther
+JT - Clinical pharmacology and therapeutics
+JID - 0372741
+RN - 0 (Antigens, CD19)
+RN - 0 (Receptors, Chimeric Antigen)
+SB - IM
+CIN - Clin Pharmacol Ther. 2022 Jul;112(1):11-15. doi: 10.1002/cpt.2631. PMID: 35716389
+MH - Adult
+MH - Antigens, CD19
+MH - Humans
+MH - Immunotherapy, Adoptive/adverse effects/methods
+MH - *Lymphoma, Large B-Cell, Diffuse/drug therapy
+MH - *Receptors, Chimeric Antigen
+MH - T-Lymphocytes
+PMC - PMC9311712
+COIS- K.O., J.L., T.M., J.D., C.H., J.S., L.P., and A.K. are employees of Bristol Myers
+ Squibb and hold stock in Bristol Myers Squibb.
+EDAT- 2022/02/15 06:00
+MHDA- 2022/06/22 06:00
+PMCR- 2022/03/20
+CRDT- 2022/02/14 05:38
+PHST- 2021/11/02 00:00 [received]
+PHST- 2022/02/07 00:00 [accepted]
+PHST- 2022/02/15 06:00 [pubmed]
+PHST- 2022/06/22 06:00 [medline]
+PHST- 2022/02/14 05:38 [entrez]
+PHST- 2022/03/20 00:00 [pmc-release]
+AID - CPT2561 [pii]
+AID - 10.1002/cpt.2561 [doi]
+PST - ppublish
+SO - Clin Pharmacol Ther. 2022 Jul;112(1):81-89. doi: 10.1002/cpt.2561. Epub 2022 Mar
+ 20.
+
+PMID- 35082198
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20220128
+LR - 20220131
+IS - 1349-3329 (Electronic)
+IS - 0040-8727 (Linking)
+VI - 256
+IP - 1
+DP - 2022 Jan
+TI - Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient
+ with MODY-like Diabetes.
+PG - 37-41
+LID - 10.1620/tjem.256.37 [doi]
+AB - Maturity-onset diabetes of the young (MODY) is a form of diabetes mellitus
+ characterized by autosomal dominant inheritance, early onset, and the absence of
+ pancreatic autoimmune markers. MODY-causing mutations have been identified in 14
+ genes, and carboxyl ester lipase (CEL) has been implicated in MODY8. We report a
+ Japanese patient with MODY who harbored a heterogeneous mutation in CEL exon 2
+ (NM_001807.4:c.146_147delCT; NP_001798.2:p.Ser49CysfsTer52). A 13-year-old girl
+ experienced her first episode of diabetic ketoacidosis, during which her
+ endogenous insulin secretion was poor. However, her insulin secretion had
+ apparently recovered 2 months after the commencement of insulin treatment, and no
+ further treatment was required for the following 2 years. Diabetic ketoacidosis
+ recurred when the patient was 15 years old, when her insulin secretion was again
+ poor. Since that time, the patient, who is now 18 years old, has been undergoing
+ continuous insulin treatment. The large fluctuations in her insulin secretory
+ capacity led us to suspect MODY. MODY8 patients that carry a mutation in the
+ variable number of tandem repeats in the last exon of the CEL gene typically show
+ pancreatic exocrine dysfunction. However, in the present case, which features
+ premature termination, there is no involvement of exocrine dysfunction,
+ potentially demonstrating a genotype-phenotype correlation.
+FAU - Kondoh, Tomomi
+AU - Kondoh T
+AD - Department of Pediatrics, Fujita Health University School of Medicine.
+FAU - Nakajima, Yoko
+AU - Nakajima Y
+AD - Department of Pediatrics, Fujita Health University School of Medicine.
+FAU - Yokoi, Katsuyuki
+AU - Yokoi K
+AD - Department of Pediatrics, Fujita Health University School of Medicine.
+FAU - Matsumoto, Yuji
+AU - Matsumoto Y
+AD - Department of Pediatrics, Fujita Health University School of Medicine.
+FAU - Inagaki, Hidehito
+AU - Inagaki H
+AD - Division of Molecular Genetics, Institute for Comprehensive Medical Science,
+ Fujita Health University School of Medicine.
+FAU - Kato, Takema
+AU - Kato T
+AD - Division of Molecular Genetics, Institute for Comprehensive Medical Science,
+ Fujita Health University School of Medicine.
+FAU - Nakajima, Yoichi
+AU - Nakajima Y
+AD - Department of Pediatrics, Fujita Health University School of Medicine.
+FAU - Ito, Tetsuya
+AU - Ito T
+AD - Department of Pediatrics, Fujita Health University School of Medicine.
+FAU - Yoshikawa, Tetsushi
+AU - Yoshikawa T
+AD - Department of Pediatrics, Fujita Health University School of Medicine.
+FAU - Kurahashi, Hiroki
+AU - Kurahashi H
+AD - Division of Molecular Genetics, Institute for Comprehensive Medical Science,
+ Fujita Health University School of Medicine.
+LA - eng
+PT - Case Reports
+PT - Journal Article
+PL - Japan
+TA - Tohoku J Exp Med
+JT - The Tohoku journal of experimental medicine
+JID - 0417355
+RN - 0 (Esters)
+RN - EC 3.1.1.1 (Carboxylesterase)
+RN - EC 3.1.1.3 (Lipase)
+RN - Mason-Type Diabetes
+SB - IM
+MH - Adolescent
+MH - *Carboxylesterase/genetics
+MH - *Diabetes Mellitus, Type 2/genetics
+MH - Esters
+MH - Female
+MH - Humans
+MH - Lipase/genetics
+MH - Mutation/genetics
+OTO - NOTNLM
+OT - MODY8
+OT - carboxyl ester lipase
+OT - diabetes mellitus
+OT - maturity-onset diabetes of the young
+OT - pancreatic exocrine dysfunction
+EDAT- 2022/01/28 06:00
+MHDA- 2022/01/29 06:00
+CRDT- 2022/01/27 05:46
+PHST- 2022/01/27 05:46 [entrez]
+PHST- 2022/01/28 06:00 [pubmed]
+PHST- 2022/01/29 06:00 [medline]
+AID - 10.1620/tjem.256.37 [doi]
+PST - ppublish
+SO - Tohoku J Exp Med. 2022 Jan;256(1):37-41. doi: 10.1620/tjem.256.37.
+
+PMID- 34850019
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20220415
+LR - 20220531
+IS - 1945-7197 (Electronic)
+IS - 0021-972X (Print)
+IS - 0021-972X (Linking)
+VI - 107
+IP - 4
+DP - 2022 Mar 24
+TI - Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis:
+ How to Correctly Identify MODY8 Cases.
+PG - e1455-e1466
+LID - 10.1210/clinem/dgab864 [doi]
+AB - CONTEXT: Maturity onset diabetes of the young, type 8 (MODY8) is associated with
+ mutations in the CEL gene, which encodes the digestive enzyme carboxyl ester
+ lipase. Several diabetes cases and families have in recent years been attributed
+ to mutations in CEL without any functional or clinical evidence provided.
+ OBJECTIVE: To facilitate correct MODY8 diagnostics, we screened 2 cohorts of
+ diabetes patients and delineated the phenotype. METHODS: Young, lean Swedish and
+ Finnish patients with a diagnosis of type 2 diabetes (352 cases, 406 controls)
+ were screened for mutations in the CEL gene. We also screened 58 Czech MODY cases
+ who had tested negative for common MODY genes. For CEL mutation-positive
+ subjects, family history was recorded, and clinical investigations and pancreatic
+ imaging performed. RESULTS: Two cases (1 Swedish and 1 Czech) with germline
+ mutation in CEL were identified. Clinical and radiological investigations of
+ these 2 probands and their families revealed dominantly inherited
+ insulin-dependent diabetes, pancreatic exocrine dysfunction, and atrophic
+ pancreas with lipomatosis and cysts. Notably, hereditary pancreatitis was the
+ predominant phenotype in 1 pedigree. Both families carried single-base pair
+ deletions in the proximal part of the CEL variable number of tandem repeat (VNTR)
+ region in exon 11. The mutations are predicted to lead to aberrant protein tails
+ that make the CEL protein susceptible to aggregation. CONCLUSION: The diagnosis
+ of MODY8 requires a pancreatic exocrine phenotype and a deletion in the CEL VNTR
+ in addition to dominantly inherited diabetes. CEL screening may be warranted also
+ in families with hereditary pancreatitis of unknown genetic etiology.
+CI - (c) The Author(s) 2021. Published by Oxford University Press on behalf of the
+ Endocrine Society.
+FAU - El Jellas, Khadija
+AU - El Jellas K
+AUID- ORCID: 0000-0003-4473-1422
+AD - Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, N-5020 Bergen, Norway.
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, N-5020 Bergen, Norway.
+FAU - Dusatkova, Petra
+AU - Dusatkova P
+AUID- ORCID: 0000-0002-8647-9088
+AD - Department of Pediatrics, Charles University in Prague, Second Faculty of
+ Medicine and University Hospital Motol, CZ-15006 Prague, Czech Republic.
+FAU - Haldorsen, Ingfrid S
+AU - Haldorsen IS
+AD - Mohn Medical Imaging and Visualization Centre, Department of Radiology, Haukeland
+ University Hospital, N-5021 Bergen, Norway.
+AD - Section for Radiology, Department of Clinical Medicine, University of Bergen,
+ N-5020 Bergen, Norway.
+FAU - Molnes, Janne
+AU - Molnes J
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, N-5020 Bergen, Norway.
+AD - Department of Medical Genetics, Haukeland University Hospital, N-5021 Bergen,
+ Norway.
+FAU - Tjora, Erling
+AU - Tjora E
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, N-5020 Bergen, Norway.
+AD - Children and Youth Clinic, Haukeland University Hospital, N-5021 Bergen, Norway.
+FAU - Johansson, Bente B
+AU - Johansson BB
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, N-5020 Bergen, Norway.
+FAU - Fjeld, Karianne
+AU - Fjeld K
+AD - Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, N-5020 Bergen, Norway.
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, N-5020 Bergen, Norway.
+AD - Department of Medical Genetics, Haukeland University Hospital, N-5021 Bergen,
+ Norway.
+FAU - Johansson, Stefan
+AU - Johansson S
+AUID- ORCID: 0000-0002-2298-7008
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, N-5020 Bergen, Norway.
+AD - Department of Medical Genetics, Haukeland University Hospital, N-5021 Bergen,
+ Norway.
+FAU - Pruhova, Stepanka
+AU - Pruhova S
+AUID- ORCID: 0000-0001-8019-8026
+AD - Department of Pediatrics, Charles University in Prague, Second Faculty of
+ Medicine and University Hospital Motol, CZ-15006 Prague, Czech Republic.
+FAU - Groop, Leif
+AU - Groop L
+AUID- ORCID: 0000-0002-0187-3263
+AD - Institute for Molecular Medicine Finland, Helsinki University, FI-00014 Helsinki,
+ Finland.
+AD - Lund University Diabetes Centre, Department of Clinical Sciences, Lund
+ University, Skane University Hospital, SE-214 28 Malmo, Sweden.
+FAU - Lohr, J Matthias
+AU - Lohr JM
+AD - Department for Digestive Diseases, Karolinska University Hospital, SE-141 86
+ Stockholm, Sweden.
+AD - Department of Clinical Science, Intervention, and Technology (CLINTEC),
+ Karolinska Institute, SE-141 86 Stockholm, Sweden.
+FAU - Njolstad, Pal R
+AU - Njolstad PR
+AUID- ORCID: 0000-0003-0304-6728
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, N-5020 Bergen, Norway.
+AD - Children and Youth Clinic, Haukeland University Hospital, N-5021 Bergen, Norway.
+FAU - Molven, Anders
+AU - Molven A
+AUID- ORCID: 0000-0003-1847-3079
+AD - Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, N-5020 Bergen, Norway.
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, N-5020 Bergen, Norway.
+AD - Department of Pathology, Haukeland University Hospital, N-5021 Bergen, Norway.
+LA - eng
+PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
+PL - United States
+TA - J Clin Endocrinol Metab
+JT - The Journal of clinical endocrinology and metabolism
+JID - 0375362
+RN - EC 3.1.1.3 (CEL protein, human)
+RN - EC 3.1.1.3 (Lipase)
+RN - Hereditary pancreatitis
+RN - Mason-Type Diabetes
+RN - Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction
+SB - IM
+MH - *Diabetes Mellitus, Type 2/diagnosis/genetics
+MH - Humans
+MH - Lipase/*genetics
+MH - Mutation
+MH - Pancreatitis, Chronic
+PMC - PMC8947231
+OTO - NOTNLM
+OT - MODY8
+OT - chronic pancreatitis
+OT - monogenic diabetes
+OT - mutation screening
+OT - pancreatic exocrine function
+OT - pancreatic imaging
+EDAT- 2021/12/02 06:00
+MHDA- 2022/04/16 06:00
+PMCR- 2021/11/29
+CRDT- 2021/12/01 07:20
+PHST- 2021/06/25 00:00 [received]
+PHST- 2021/12/02 06:00 [pubmed]
+PHST- 2022/04/16 06:00 [medline]
+PHST- 2021/12/01 07:20 [entrez]
+PHST- 2021/11/29 00:00 [pmc-release]
+AID - 6446241 [pii]
+AID - dgab864 [pii]
+AID - 10.1210/clinem/dgab864 [doi]
+PST - ppublish
+SO - J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1455-e1466. doi:
+ 10.1210/clinem/dgab864.
+
+PMID- 34507899
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20220215
+LR - 20240102
+IS - 1424-3911 (Electronic)
+IS - 1424-3903 (Linking)
+VI - 21
+IP - 7
+DP - 2021 Oct
+TI - Homozygosity of short VNTR lengths in the CEL gene may confer susceptibility to
+ idiopathic chronic pancreatitis.
+PG - 1311-1316
+LID - S1424-3903(21)00565-2 [pii]
+LID - 10.1016/j.pan.2021.09.001 [doi]
+AB - OBJECTIVE: The carboxyl-ester lipase (CEL) gene contains a variable number of
+ tandem repeats (VNTR) region. It remains unclear whether the number of repeats in
+ the CEL VNTR is related to the risk of pancreatic diseases. The aim of this study
+ was to investigate whether CEL VNTR length is associated with idiopathic chronic
+ pancreatitis (ICP), alcoholic chronic pancreatitis (ACP), or pancreatic cancer in
+ a cohort of Chinese patients. METHODS: CEL VNTRs were genotyped in patients
+ diagnosed with ICP (n = 771), ACP (n = 222), or pancreatic cancer (n = 263), and
+ in healthy controls (n = 927). CEL VNTR lengths were determined using a screening
+ method combining PCR and DNA fragment analysis. RESULTS: Overall, the CEL VNTR
+ lengths ranged from 5 to 22 repeats, with the 16-repeat allele ('normal' size, N)
+ accounting for 73.82% of all observed alleles. The VNTR allele frequencies and
+ genotype distributions were not significantly different between healthy controls
+ and patients with ACP or pancreatic cancer. For the ICP group, allele frequencies
+ did not differ significantly from the controls, while the frequency of the SS
+ genotype (homozygosity for 5-15 repeats) was significantly higher in the patients
+ (4.67%) than in the controls (1.94%) (p = 0.0014; OR = 2.47; 95% CI = 1.39-4.39).
+ CONCLUSIONS: There were no associations between the CEL VNTR length and ACP or
+ pancreatic cancer. However, homozygosity for short VNTR lengths may confer
+ susceptibility to ICP.
+CI - Copyright (c) 2021 The Authors. Published by Elsevier B.V. All rights reserved.
+FAU - Mao, Xiao-Tong
+AU - Mao XT
+AD - Department of Gastroenterology, Digestive Endoscopy Center, Changhai Hospital,
+ The Second Military Medical University, Shanghai, China; Shanghai Institute of
+ Pancreatic Diseases, Shanghai, China.
+FAU - Deng, Shun-Jiang
+AU - Deng SJ
+AD - Department of Gastroenterology, Digestive Endoscopy Center, Changhai Hospital,
+ The Second Military Medical University, Shanghai, China; Shanghai Institute of
+ Pancreatic Diseases, Shanghai, China.
+FAU - Kang, Rui-Lin
+AU - Kang RL
+AD - Ningjin Hospital, Hebei Province, China.
+FAU - Wang, Yuan-Chen
+AU - Wang YC
+AD - Department of Gastroenterology, Digestive Endoscopy Center, Changhai Hospital,
+ The Second Military Medical University, Shanghai, China.
+FAU - Li, Zhao-Shen
+AU - Li ZS
+AD - Department of Gastroenterology, Digestive Endoscopy Center, Changhai Hospital,
+ The Second Military Medical University, Shanghai, China; Shanghai Institute of
+ Pancreatic Diseases, Shanghai, China.
+FAU - Zou, Wen-Bin
+AU - Zou WB
+AD - Department of Gastroenterology, Digestive Endoscopy Center, Changhai Hospital,
+ The Second Military Medical University, Shanghai, China; Shanghai Institute of
+ Pancreatic Diseases, Shanghai, China. Electronic address:
+ dr.wenbinzou@hotmail.com.
+FAU - Liao, Zhuan
+AU - Liao Z
+AD - Department of Gastroenterology, Digestive Endoscopy Center, Changhai Hospital,
+ The Second Military Medical University, Shanghai, China; Shanghai Institute of
+ Pancreatic Diseases, Shanghai, China. Electronic address: liaozhuan@smmu.edu.cn.
+LA - eng
+PT - Journal Article
+DEP - 20210904
+PL - Switzerland
+TA - Pancreatology
+JT - Pancreatology : official journal of the International Association of
+ Pancreatology (IAP) ... [et al.]
+JID - 100966936
+RN - EC 3.1.1.1 (Carboxylesterase)
+RN - EC 3.1.1.3 (Lipase)
+SB - IM
+MH - Carboxylesterase/genetics/metabolism
+MH - Gene Frequency
+MH - Genotype
+MH - Heterozygote
+MH - Humans
+MH - Lipase/metabolism
+MH - *Minisatellite Repeats/genetics
+MH - Pancreatic Neoplasms/genetics
+MH - *Pancreatitis
+MH - Pancreatitis, Alcoholic/genetics
+OTO - NOTNLM
+OT - Alcoholic chronic pancreatitis
+OT - Carboxyl-ester lipase
+OT - Copy number variation
+OT - Idiopathic chronic pancreatitis
+OT - Pancreatic cancer
+OT - Variable number of tandem repeats
+COIS- Declaration of competing interest The authors declare no conflict of interest.
+EDAT- 2021/09/12 06:00
+MHDA- 2022/02/16 06:00
+CRDT- 2021/09/11 05:31
+PHST- 2021/06/25 00:00 [received]
+PHST- 2021/09/01 00:00 [revised]
+PHST- 2021/09/02 00:00 [accepted]
+PHST- 2021/09/12 06:00 [pubmed]
+PHST- 2022/02/16 06:00 [medline]
+PHST- 2021/09/11 05:31 [entrez]
+AID - S1424-3903(21)00565-2 [pii]
+AID - 10.1016/j.pan.2021.09.001 [doi]
+PST - ppublish
+SO - Pancreatology. 2021 Oct;21(7):1311-1316. doi: 10.1016/j.pan.2021.09.001. Epub
+ 2021 Sep 4.
+
+PMID- 34100900
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20210624
+LR - 20240801
+IS - 2473-9537 (Electronic)
+IS - 2473-9529 (Print)
+IS - 2473-9529 (Linking)
+VI - 5
+IP - 11
+DP - 2021 Jun 8
+TI - Axicabtagene ciloleucel in vivo expansion and treatment outcome in aggressive
+ B-cell lymphoma in a real-world setting.
+PG - 2523-2527
+LID - 10.1182/bloodadvances.2020003959 [doi]
+AB - Data on the association between chimeric antigen receptor (CAR)-T-cell kinetics
+ and patient outcome in the nontrial setting are missing, mainly due to the lack
+ of broadly available CAR-T-cell diagnostic quantification tools. We performed
+ prospective quantification of axicabtagene ciloleucel (axi-cel) in 21 patients
+ treated for aggressive B-cell lymphoma at our clinic. Median peak CAR-T-cell
+ count was 16.14 CAR-T cells/microL. Patients with 16.14/muL or higher peak CAR-T cells
+ (strong expanders) had more day-30 objective responses (91% vs 40%, P = .02). In
+ univariate analysis, peak CAR-T cell >/= 16.14 (P < .001), normal platelet counts
+ at start of lymphodepletion (P < .001), no prior stem cell transplant (P = .04),
+ and peak CAR-T cells as continuous variable (P = .03) were associated with better
+ progression-free survival (PFS). After adjusting for platelet counts and prior
+ stem cell transplantation, peak CAR-T cells below median was still associated
+ with shorter PFS (relative risk, 0.15, 95% confidence interval, 0.04-0.59, P =
+ .007). Low platelet counts also maintained significant impact on PFS. Our data
+ demonstrate association of axi-cel levels and outcome in a nontrial setting and
+ for the first time use a cutoff to segregate weak and strong expanders with
+ respective outcomes.
+CI - (c) 2021 by The American Society of Hematology.
+FAU - Ayuk, Francis A
+AU - Ayuk FA
+AD - Department of Stem Cell Transplantation.
+FAU - Berger, Carolina
+AU - Berger C
+AD - Department of Stem Cell Transplantation.
+FAU - Badbaran, Anita
+AU - Badbaran A
+AD - Department of Stem Cell Transplantation.
+FAU - Zabelina, Tatjana
+AU - Zabelina T
+AD - Department of Stem Cell Transplantation.
+FAU - Sonntag, Tanja
+AU - Sonntag T
+AD - Department of Stem Cell Transplantation.
+FAU - Riecken, Kristoffer
+AU - Riecken K
+AUID- ORCID: 0000-0001-9050-6766
+AD - Department of Stem Cell Transplantation.
+FAU - Geffken, Maria
+AU - Geffken M
+AD - Institute for Transfusion Medicine.
+FAU - Wichmann, Dominic
+AU - Wichmann D
+AUID- ORCID: 0000-0002-4334-7640
+AD - Department of Intensive Care Medicine.
+FAU - Frenzel, Christian
+AU - Frenzel C
+AD - Department of Hematology and Oncology, and.
+FAU - Thayssen, Guenther
+AU - Thayssen G
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg,
+ Germany.
+FAU - Zeschke, Silke
+AU - Zeschke S
+AD - Department of Stem Cell Transplantation.
+FAU - Kroger, Nicolaus
+AU - Kroger N
+AUID- ORCID: 0000-0001-5103-9966
+AD - Department of Stem Cell Transplantation.
+FAU - Fehse, Boris
+AU - Fehse B
+AUID- ORCID: 0000-0001-9780-7211
+AD - Department of Stem Cell Transplantation.
+LA - eng
+PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
+PL - United States
+TA - Blood Adv
+JT - Blood advances
+JID - 101698425
+RN - 0 (Antigens, CD19)
+RN - 0 (Biological Products)
+RN - U2I8T43Y7R (axicabtagene ciloleucel)
+SB - IM
+EIN - Blood Adv. 2022 Dec 13;6(23):6075. doi: 10.1182/bloodadvances.2022008370. PMID:
+ 36459166
+MH - Antigens, CD19/therapeutic use
+MH - Biological Products
+MH - Humans
+MH - Immunotherapy, Adoptive
+MH - *Lymphoma, Large B-Cell, Diffuse
+MH - Prospective Studies
+MH - Treatment Outcome
+PMC - PMC8238487
+EDAT- 2021/06/09 06:00
+MHDA- 2021/06/25 06:00
+PMCR- 2021/06/08
+CRDT- 2021/06/08 12:24
+PHST- 2020/12/03 00:00 [received]
+PHST- 2021/03/29 00:00 [accepted]
+PHST- 2021/06/08 12:24 [entrez]
+PHST- 2021/06/09 06:00 [pubmed]
+PHST- 2021/06/25 06:00 [medline]
+PHST- 2021/06/08 00:00 [pmc-release]
+AID - S2473-9529(21)00328-1 [pii]
+AID - 2021/ADV2020003959 [pii]
+AID - 10.1182/bloodadvances.2020003959 [doi]
+PST - ppublish
+SO - Blood Adv. 2021 Jun 8;5(11):2523-2527. doi: 10.1182/bloodadvances.2020003959.
+
+PMID- 33862081
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20210823
+LR - 20211231
+IS - 1083-351X (Electronic)
+IS - 0021-9258 (Print)
+IS - 0021-9258 (Linking)
+VI - 296
+DP - 2021 Jan-Jun
+TI - The position of single-base deletions in the VNTR sequence of the carboxyl ester
+ lipase (CEL) gene determines proteotoxicity.
+PG - 100661
+LID - S0021-9258(21)00449-X [pii]
+LID - 10.1016/j.jbc.2021.100661 [doi]
+LID - 100661
+AB - Variable number of tandem repeat (VNTR) sequences in the genome can have
+ functional consequences that contribute to human disease. This is the case for
+ the CEL gene, which is specifically expressed in pancreatic acinar cells and
+ encodes the digestive enzyme carboxyl ester lipase. Rare single-base deletions
+ (DELs) within the first (DEL1) or fourth (DEL4) VNTR segment of CEL cause
+ maturity-onset diabetes of the young, type 8 (MODY8), an inherited disorder
+ characterized by exocrine pancreatic dysfunction and diabetes. Studies on the
+ DEL1 variant have suggested that MODY8 is initiated by CEL protein misfolding and
+ aggregation. However, it is unclear how the position of single-base deletions
+ within the CEL VNTR affects pathogenic properties of the protein. Here, we
+ investigated four naturally occurring CEL variants, arising from single-base
+ deletions in different VNTR segments (DEL1, DEL4, DEL9, and DEL13). When the four
+ variants were expressed in human embryonic kidney 293 cells, only DEL1 and DEL4
+ led to significantly reduced secretion, increased intracellular aggregation, and
+ increased endoplasmic reticulum stress compared with normal CEL protein. The
+ level of O-glycosylation was affected in all DEL variants. Moreover, all variants
+ had enzymatic activity comparable with that of normal CEL. We conclude that the
+ longest aberrant protein tails, resulting from single-base deletions in the
+ proximal VNTR segments, have highest pathogenic potential, explaining why DEL1
+ and DEL4 but not DEL9 and DEL13 have been observed in patients with MODY8. These
+ findings further support the view that CEL mutations cause pancreatic disease
+ through protein misfolding and proteotoxicity, leading to endoplasmic reticulum
+ stress and activation of the unfolded protein response.
+CI - Copyright (c) 2021 The Authors. Published by Elsevier Inc. All rights reserved.
+FAU - Gravdal, Anny
+AU - Gravdal A
+AD - The Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Bergen, Norway; Center for Diabetes Research, Department of Clinical
+ Science, University of Bergen, Bergen, Norway; Department of Medical Genetics,
+ Haukeland University Hospital, Bergen, Norway.
+FAU - Xiao, Xunjun
+AU - Xiao X
+AD - Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition,
+ Washington University School of Medicine, St Louis, Missouri, USA.
+FAU - Cnop, Miriam
+AU - Cnop M
+AD - ULB Center for Diabetes Research, Universite Libre de Bruxelles, Brussels,
+ Belgium; Division of Endocrinology, ULB Erasmus Hospital, Universite Libre de
+ Bruxelles, Brussels, Belgium.
+FAU - El Jellas, Khadija
+AU - El Jellas K
+AD - The Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Bergen, Norway; Center for Diabetes Research, Department of Clinical
+ Science, University of Bergen, Bergen, Norway.
+FAU - Johansson, Stefan
+AU - Johansson S
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, Bergen, Norway; Department of Medical Genetics, Haukeland University
+ Hospital, Bergen, Norway.
+FAU - Njolstad, Pal R
+AU - Njolstad PR
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, Bergen, Norway; Department of Pediatrics and Adolescent Medicine,
+ Haukeland University Hospital, Bergen, Norway.
+FAU - Lowe, Mark E
+AU - Lowe ME
+AD - Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition,
+ Washington University School of Medicine, St Louis, Missouri, USA.
+FAU - Johansson, Bente B
+AU - Johansson BB
+AD - Center for Diabetes Research, Department of Clinical Science, University of
+ Bergen, Bergen, Norway; Department of Pediatrics and Adolescent Medicine,
+ Haukeland University Hospital, Bergen, Norway.
+FAU - Molven, Anders
+AU - Molven A
+AD - The Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Bergen, Norway; Center for Diabetes Research, Department of Clinical
+ Science, University of Bergen, Bergen, Norway; Department of Pathology, Haukeland
+ University Hospital, Bergen, Norway. Electronic address: anders.molven@uib.no.
+FAU - Fjeld, Karianne
+AU - Fjeld K
+AD - The Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Bergen, Norway; Center for Diabetes Research, Department of Clinical
+ Science, University of Bergen, Bergen, Norway; Department of Medical Genetics,
+ Haukeland University Hospital, Bergen, Norway.
+LA - eng
+GR - R01 DK124415/DK/NIDDK NIH HHS/United States
+PT - Journal Article
+PT - Research Support, N.I.H., Extramural
+PT - Research Support, Non-U.S. Gov't
+DEP - 20210414
+PL - United States
+TA - J Biol Chem
+JT - The Journal of biological chemistry
+JID - 2985121R
+RN - EC 3.1.1.3 (CEL protein, human)
+RN - EC 3.1.1.3 (Lipase)
+SB - IM
+MH - *Endoplasmic Reticulum Stress
+MH - Glycosylation
+MH - HEK293 Cells
+MH - Humans
+MH - Lipase/*genetics/*metabolism
+MH - *Minisatellite Repeats
+MH - *Mutation
+MH - *Proteostasis
+PMC - PMC8692231
+OTO - NOTNLM
+OT - CEL
+OT - MODY8
+OT - O-glycosylation
+OT - endoplasmic reticulum stress
+OT - protein misfolding
+OT - single-base deletions
+OT - unfolded protein response
+COIS- Conflict of interest The authors declare that they have no conflicts of interest
+ with the contents of this article.
+EDAT- 2021/04/17 06:00
+MHDA- 2021/08/24 06:00
+PMCR- 2021/04/14
+CRDT- 2021/04/16 20:11
+PHST- 2020/12/22 00:00 [received]
+PHST- 2021/04/05 00:00 [revised]
+PHST- 2021/04/12 00:00 [accepted]
+PHST- 2021/04/17 06:00 [pubmed]
+PHST- 2021/08/24 06:00 [medline]
+PHST- 2021/04/16 20:11 [entrez]
+PHST- 2021/04/14 00:00 [pmc-release]
+AID - S0021-9258(21)00449-X [pii]
+AID - 100661 [pii]
+AID - 10.1016/j.jbc.2021.100661 [doi]
+PST - ppublish
+SO - J Biol Chem. 2021 Jan-Jun;296:100661. doi: 10.1016/j.jbc.2021.100661. Epub 2021
+ Apr 14.
+
+PMID- 27802312
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20170628
+LR - 20260127
+IS - 1932-6203 (Electronic)
+IS - 1932-6203 (Linking)
+VI - 11
+IP - 11
+DP - 2016
+TI - Length of Variable Numbers of Tandem Repeats in the Carboxyl Ester Lipase (CEL)
+ Gene May Confer Susceptibility to Alcoholic Liver Cirrhosis but Not Alcoholic
+ Chronic Pancreatitis.
+PG - e0165567
+LID - 10.1371/journal.pone.0165567 [doi]
+LID - e0165567
+AB - BACKGROUND: Carboxyl-ester lipase (CEL) contributes to fatty acid ethyl ester
+ metabolism, which is implicated in alcoholic pancreatitis. The CEL gene harbours
+ a variable number of tandem repeats (VNTR) region in exon 11. Variation in this
+ VNTR has been linked to monogenic pancreatic disease, while conflicting results
+ were reported for chronic pancreatitis (CP). Here, we aimed to investigate a
+ potential association of CEL VNTR lengths with alcoholic CP. METHODS: Overall,
+ 395 alcoholic CP patients, 218 patients with alcoholic liver cirrhosis (ALC)
+ serving as controls with a comparable amount of alcohol consumed, and 327 healthy
+ controls from Germany and the United Kingdom (UK) were analysed by determination
+ of fragment lengths by capillary electrophoresis. Allele frequencies and
+ genotypes of different VNTR categories were compared between the groups. RESULTS:
+ Twelve repeats were overrepresented in UK ACP patients (P = 0.04) compared to
+ controls, whereas twelve repeats were enriched in German ALC compared to
+ alcoholic CP patients (P = 0.03). Frequencies of CEL VNTR lengths of 14 and 15
+ repeats differed between German ALC patients and healthy controls (P = 0.03 and
+ 0.008, respectively). However, in the genotype and pooled analysis of VNTR
+ lengths no statistical significant association was depicted. Additionally, the
+ 16-16 genotype as well as 16 repeats were more frequent in UK ALC than in
+ alcoholic CP patients (P = 0.034 and 0.02, respectively). In all other
+ calculations, including pooled German and UK data, allele frequencies and
+ genotype distributions did not differ significantly between patients and controls
+ or between alcoholic CP and ALC. CONCLUSIONS: We did not obtain evidence that CEL
+ VNTR lengths are associated with alcoholic CP. However, our results suggest that
+ CEL VNTR lengths might associate with ALC, a finding that needs to be clarified
+ in larger cohorts.
+FAU - Fjeld, Karianne
+AU - Fjeld K
+AD - KG Jebsen Center for Diabetes Research, Department of Clinical Science,
+ University of Bergen, Bergen, Norway.
+AD - Center for Medical Genetics and Molecular Medicine, Haukeland University
+ Hospital, Bergen, Norway.
+FAU - Beer, Sebastian
+AU - Beer S
+AD - Department of Internal Medicine, Neurology and Dermatology, Division of
+ Gastroenterology and Rheumatology, University of Leipzig, Leipzig, Germany.
+FAU - Johnstone, Marianne
+AU - Johnstone M
+AD - NIHR Liverpool Pancreas Biomedical Research Unit, Royal Liverpool University
+ Hospital, Institute of Translational Medicine, University of Liverpool,
+ Liverpool, United Kingdom.
+FAU - Zimmer, Constantin
+AU - Zimmer C
+AD - Department of Internal Medicine, Neurology and Dermatology, Division of
+ Gastroenterology and Rheumatology, University of Leipzig, Leipzig, Germany.
+FAU - Mossner, Joachim
+AU - Mossner J
+AD - Department of Internal Medicine, Neurology and Dermatology, Division of
+ Gastroenterology and Rheumatology, University of Leipzig, Leipzig, Germany.
+FAU - Ruffert, Claudia
+AU - Ruffert C
+AD - Department of Internal Medicine I, Martin Luther University, Halle, Germany.
+FAU - Krehan, Mario
+AU - Krehan M
+AD - Department of Internal Medicine, Neurology and Dermatology, Division of
+ Gastroenterology and Rheumatology, University of Leipzig, Leipzig, Germany.
+FAU - Zapf, Christian
+AU - Zapf C
+AD - Department of Internal Medicine, Neurology and Dermatology, Division of
+ Gastroenterology and Rheumatology, University of Leipzig, Leipzig, Germany.
+FAU - Njolstad, Pal Rasmus
+AU - Njolstad PR
+AD - KG Jebsen Center for Diabetes Research, Department of Clinical Science,
+ University of Bergen, Bergen, Norway.
+AD - Department of Pediatrics, Haukeland University Hospital, Bergen, Norway.
+FAU - Johansson, Stefan
+AU - Johansson S
+AD - KG Jebsen Center for Diabetes Research, Department of Clinical Science,
+ University of Bergen, Bergen, Norway.
+AD - Center for Medical Genetics and Molecular Medicine, Haukeland University
+ Hospital, Bergen, Norway.
+FAU - Bugert, Peter
+AU - Bugert P
+AD - Institute of Transfusion Medicine and Immunology, Medical Faculty Mannheim,
+ Heidelberg University, German Red Cross Blood Service of
+ Baden-Wurttemberg-Hessen, Mannheim, Germany.
+FAU - Miyajima, Fabio
+AU - Miyajima F
+AD - Department of Molecular and Clinical Pharmacology, Institute of Translational
+ Medicine, University of Liverpool, Liverpool, United Kingdom.
+FAU - Liloglou, Triantafillos
+AU - Liloglou T
+AD - Department of Molecular and Clinical Cancer Medicine, Institute of Translational
+ Medicine, University of Liverpool, Liverpool, United Kingdom.
+FAU - Brown, Laura J
+AU - Brown LJ
+AD - NIHR Liverpool Pancreas Biomedical Research Unit, Royal Liverpool University
+ Hospital, Institute of Translational Medicine, University of Liverpool,
+ Liverpool, United Kingdom.
+FAU - Winn, Simon A
+AU - Winn SA
+AD - NIHR Liverpool Pancreas Biomedical Research Unit, Royal Liverpool University
+ Hospital, Institute of Translational Medicine, University of Liverpool,
+ Liverpool, United Kingdom.
+FAU - Davies, Kelly
+AU - Davies K
+AD - NIHR Liverpool Pancreas Biomedical Research Unit, Royal Liverpool University
+ Hospital, Institute of Translational Medicine, University of Liverpool,
+ Liverpool, United Kingdom.
+FAU - Latawiec, Diane
+AU - Latawiec D
+AD - NIHR Liverpool Pancreas Biomedical Research Unit, Royal Liverpool University
+ Hospital, Institute of Translational Medicine, University of Liverpool,
+ Liverpool, United Kingdom.
+FAU - Gunson, Bridget K
+AU - Gunson BK
+AD - NIHR Birmingham Liver Biomedical Research Unit, Queen Elizabeth Hospital and
+ University of Birmingham, Birmingham, United Kingdom.
+FAU - Criddle, David N
+AU - Criddle DN
+AD - Department of Cellular & Molecular Physiology, Institute of Translational
+ Medicine, University of Liverpool, Liverpool, United Kingdom.
+FAU - Pirmohamed, Munir
+AU - Pirmohamed M
+AD - Department of Molecular and Clinical Pharmacology, Institute of Translational
+ Medicine, University of Liverpool, Liverpool, United Kingdom.
+FAU - Grutzmann, Robert
+AU - Grutzmann R
+AD - Department of Surgery, Friedrich-Alexander-Universitat Erlangen-Nurnberg,
+ Erlangen, Germany.
+FAU - Michl, Patrick
+AU - Michl P
+AD - Department of Internal Medicine I, Martin Luther University, Halle, Germany.
+FAU - Greenhalf, William
+AU - Greenhalf W
+AD - NIHR Liverpool Pancreas Biomedical Research Unit, Royal Liverpool University
+ Hospital, Institute of Translational Medicine, University of Liverpool,
+ Liverpool, United Kingdom.
+FAU - Molven, Anders
+AU - Molven A
+AD - KG Jebsen Center for Diabetes Research, Department of Clinical Science,
+ University of Bergen, Bergen, Norway.
+AD - Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Bergen, Norway.
+AD - Department of Pathology, Haukeland University Hospital, Bergen, Norway.
+FAU - Sutton, Robert
+AU - Sutton R
+AD - NIHR Liverpool Pancreas Biomedical Research Unit, Royal Liverpool University
+ Hospital, Institute of Translational Medicine, University of Liverpool,
+ Liverpool, United Kingdom.
+FAU - Rosendahl, Jonas
+AU - Rosendahl J
+AD - Department of Internal Medicine I, Martin Luther University, Halle, Germany.
+LA - eng
+GR - 16812/CRUK_/Cancer Research UK/United Kingdom
+PT - Journal Article
+DEP - 20161101
+PL - United States
+TA - PLoS One
+JT - PloS one
+JID - 101285081
+RN - EC 3.1.1.3 (CEL protein, human)
+RN - EC 3.1.1.3 (Lipase)
+SB - IM
+MH - Adult
+MH - Aged
+MH - Aged, 80 and over
+MH - Chronic Disease
+MH - Exons
+MH - Female
+MH - Genetic Predisposition to Disease
+MH - Genotype
+MH - Germany/epidemiology
+MH - Humans
+MH - Lipase/*genetics
+MH - Liver Cirrhosis, Alcoholic/epidemiology/*genetics
+MH - Male
+MH - Middle Aged
+MH - *Minisatellite Repeats
+MH - Pancreatitis, Alcoholic/epidemiology/*genetics
+MH - United Kingdom/epidemiology
+PMC - PMC5089759
+COIS- The authors have declared that no competing interests exist.
+EDAT- 2016/11/02 06:00
+MHDA- 2017/06/29 06:00
+PMCR- 2016/11/01
+CRDT- 2016/11/02 06:00
+PHST- 2016/07/22 00:00 [received]
+PHST- 2016/10/13 00:00 [accepted]
+PHST- 2016/11/02 06:00 [pubmed]
+PHST- 2017/06/29 06:00 [medline]
+PHST- 2016/11/02 06:00 [entrez]
+PHST- 2016/11/01 00:00 [pmc-release]
+AID - PONE-D-16-29403 [pii]
+AID - 10.1371/journal.pone.0165567 [doi]
+PST - epublish
+SO - PLoS One. 2016 Nov 1;11(11):e0165567. doi: 10.1371/journal.pone.0165567.
+ eCollection 2016.
+
+PMID- 27650499
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20170926
+LR - 20220318
+IS - 1083-351X (Electronic)
+IS - 0021-9258 (Print)
+IS - 0021-9258 (Linking)
+VI - 291
+IP - 44
+DP - 2016 Oct 28
+TI - A Carboxyl Ester Lipase (CEL) Mutant Causes Chronic Pancreatitis by Forming
+ Intracellular Aggregates That Activate Apoptosis.
+PG - 23224-23236
+AB - Patients with chronic pancreatitis (CP) frequently have genetic risk factors for
+ disease. Many of the identified genes have been connected to trypsinogen
+ activation or trypsin inactivation. The description of CP in patients with
+ mutations in the variable number of tandem repeat (VNTR) domain of carboxyl ester
+ lipase (CEL) presents an opportunity to study the pathogenesis of CP
+ independently of trypsin pathways. We tested the hypothesis that a deletion and
+ frameshift mutation (C563fsX673) in the CEL VNTR causes CP through proteotoxic
+ gain-of-function activation of maladaptive cell signaling pathways including cell
+ death pathways. HEK293 or AR42J cells were transfected with constructs expressing
+ CEL with 14 repeats in the VNTR (CEL14R) or C563fsX673 CEL (CEL maturity onset
+ diabetes of youth with a deletion mutation in the VNTR (MODY)). In both cell
+ types, CEL MODY formed intracellular aggregates. Secretion of CEL MODY was
+ decreased compared with that of CEL14R. Expression of CEL MODY increased
+ endoplasmic reticulum stress, activated the unfolded protein response, and caused
+ cell death by apoptosis. Our results demonstrate that disorders of protein
+ homeostasis can lead to CP and suggest that novel therapies to decrease the
+ intracellular accumulation of misfolded protein may be successful in some
+ patients with CP.
+CI - (c) 2016 by The American Society for Biochemistry and Molecular Biology, Inc.
+FAU - Xiao, Xunjun
+AU - Xiao X
+AD - From the Department of Pediatrics, Children's Hospital of Pittsburgh at
+ University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15224 and.
+FAU - Jones, Gabrielle
+AU - Jones G
+AD - From the Department of Pediatrics, Children's Hospital of Pittsburgh at
+ University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15224 and.
+FAU - Sevilla, Wednesday A
+AU - Sevilla WA
+AD - From the Department of Pediatrics, Children's Hospital of Pittsburgh at
+ University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15224 and.
+FAU - Stolz, Donna B
+AU - Stolz DB
+AD - Department of Cell Biology, University of Pittsburgh, Pittsburgh, Pennsylvania
+ 15261.
+FAU - Magee, Kelsey E
+AU - Magee KE
+AD - From the Department of Pediatrics, Children's Hospital of Pittsburgh at
+ University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15224 and.
+FAU - Haughney, Margaret
+AU - Haughney M
+AD - From the Department of Pediatrics, Children's Hospital of Pittsburgh at
+ University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15224 and.
+FAU - Mukherjee, Amitava
+AU - Mukherjee A
+AD - From the Department of Pediatrics, Children's Hospital of Pittsburgh at
+ University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15224 and.
+FAU - Wang, Yan
+AU - Wang Y
+AD - From the Department of Pediatrics, Children's Hospital of Pittsburgh at
+ University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15224 and.
+FAU - Lowe, Mark E
+AU - Lowe ME
+AD - From the Department of Pediatrics, Children's Hospital of Pittsburgh at
+ University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15224 and
+ loweme2@upmc.edu.
+LA - eng
+GR - R01 DK080820/DK/NIDDK NIH HHS/United States
+GR - R01 DK097241/DK/NIDDK NIH HHS/United States
+PT - Journal Article
+PT - Research Support, N.I.H., Extramural
+DEP - 20160920
+PL - United States
+TA - J Biol Chem
+JT - The Journal of biological chemistry
+JID - 2985121R
+RN - 0 (Protein Aggregates)
+RN - EC 3.1.1.1 (Carboxylesterase)
+SB - IM
+EIN - J Biol Chem. 2017 May 12;292(19):7744. doi: 10.1074/jbc.A116.734384. PMID:
+ 28500240
+MH - *Apoptosis
+MH - Carboxylesterase/chemistry/*genetics/*metabolism
+MH - Endoplasmic Reticulum Stress
+MH - HEK293 Cells
+MH - Humans
+MH - Minisatellite Repeats
+MH - *Mutation
+MH - Pancreas, Exocrine/enzymology
+MH - Pancreatitis, Chronic/*enzymology/genetics/*physiopathology
+MH - Protein Aggregates
+PMC - PMC5087739
+OTO - NOTNLM
+OT - apoptosis
+OT - carboxyl ester lipase
+OT - chronic pancreatitis
+OT - disulfide
+OT - disulfide bonds
+OT - endoplasmic reticulum stress (ER stress)
+OT - lipase
+OT - unfolded protein response (UPR)
+EDAT- 2016/10/30 06:00
+MHDA- 2017/09/28 06:00
+PMCR- 2017/10/28
+CRDT- 2016/09/22 06:00
+PHST- 2016/04/22 00:00 [received]
+PHST- 2016/10/30 06:00 [pubmed]
+PHST- 2017/09/28 06:00 [medline]
+PHST- 2016/09/22 06:00 [entrez]
+PHST- 2017/10/28 00:00 [pmc-release]
+AID - S0021-9258(20)35692-1 [pii]
+AID - M116.734384 [pii]
+AID - 10.1074/jbc.M116.734384 [doi]
+PST - ppublish
+SO - J Biol Chem. 2016 Oct 28;291(44):23224-23236. doi: 10.1074/jbc.M116.734384. Epub
+ 2016 Sep 20.
+
+PMID- 27773618
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20170809
+LR - 20170809
+IS - 1424-3911 (Electronic)
+IS - 1424-3903 (Linking)
+VI - 17
+IP - 1
+DP - 2017 Jan-Feb
+TI - Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase
+ (CEL) gene as risk factors in pancreatic cancer.
+PG - 83-88
+LID - S1424-3903(16)31222-4 [pii]
+LID - 10.1016/j.pan.2016.10.006 [doi]
+AB - BACKGROUND/OBJECTIVES: We have recently described copy number variants (CNVs) of
+ the human carboxyl-ester lipase (CEL) gene, including a recombined deletion
+ allele (CEL-HYB) that is a genetic risk factor for chronic pancreatitis.
+ Associations with pancreatic disease have also been reported for the variable
+ number of tandem repeat (VNTR) region located in CEL exon 11. Here, we examined
+ if CEL CNVs and VNTR length polymorphisms affect the risk for developing
+ pancreatic cancer. METHODS: CEL CNVs and VNTR were genotyped in a German family
+ with non-alcoholic chronic pancreatitis and pancreatic cancer, in 265 German and
+ 197 Norwegian patients diagnosed with pancreatic adenocarcinoma, and in 882
+ controls. CNV screening was performed using PCR assays followed by agarose gel
+ electrophoresis whereas VNTR lengths were determined by DNA fragment analysis.
+ RESULTS: The investigated family was CEL-HYB-positive. However, an association of
+ CEL-HYB or a duplication CEL allele with pancreatic cancer was not seen in our
+ two patient cohorts. The frequency of the 23-repeat VNTR allele was borderline
+ significant in Norwegian cases compared to controls (1.2% vs. 0.3%; P = 0.05).
+ For all other VNTR lengths, no statistically significant difference in frequency
+ was observed. Moreover, no association with pancreatic cancer was detected when
+ CEL VNTR lengths were pooled into groups of short, normal or long alleles.
+ CONCLUSIONS: We could not demonstrate an association between CEL CNVs and
+ pancreatic cancer. An association is also unlikely for CEL VNTR lengths, although
+ analyses in larger materials are necessary to completely exclude an effect of
+ rare VNTR alleles.
+CI - Copyright (c) 2016 IAP and EPC. Published by Elsevier B.V. All rights reserved.
+FAU - Dalva, Monica
+AU - Dalva M
+AD - KG Jebsen Center for Diabetes Research, Department of Clinical Science,
+ University of Bergen, Bergen, Norway; Center for Medical Genetics and Molecular
+ Medicine, Haukeland University Hospital, Bergen, Norway; Gade Laboratory for
+ Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway.
+FAU - El Jellas, Khadija
+AU - El Jellas K
+AD - KG Jebsen Center for Diabetes Research, Department of Clinical Science,
+ University of Bergen, Bergen, Norway; Gade Laboratory for Pathology, Department
+ of Clinical Medicine, University of Bergen, Bergen, Norway; Department of
+ Pathology, Haukeland University Hospital, Bergen, Norway.
+FAU - Steine, Solrun J
+AU - Steine SJ
+AD - Gade Laboratory for Pathology, Department of Clinical Medicine, University of
+ Bergen, Bergen, Norway.
+FAU - Johansson, Bente B
+AU - Johansson BB
+AD - KG Jebsen Center for Diabetes Research, Department of Clinical Science,
+ University of Bergen, Bergen, Norway; Center for Medical Genetics and Molecular
+ Medicine, Haukeland University Hospital, Bergen, Norway.
+FAU - Ringdal, Monika
+AU - Ringdal M
+AD - KG Jebsen Center for Diabetes Research, Department of Clinical Science,
+ University of Bergen, Bergen, Norway; Center for Medical Genetics and Molecular
+ Medicine, Haukeland University Hospital, Bergen, Norway.
+FAU - Torsvik, Janniche
+AU - Torsvik J
+AD - KG Jebsen Center for Diabetes Research, Department of Clinical Science,
+ University of Bergen, Bergen, Norway.
+FAU - Immervoll, Heike
+AU - Immervoll H
+AD - Department of Pathology, Haukeland University Hospital, Bergen, Norway.
+FAU - Hoem, Dag
+AU - Hoem D
+AD - Department of Gastrointestinal Surgery, Haukeland University Hospital, Bergen,
+ Norway.
+FAU - Laemmerhirt, Felix
+AU - Laemmerhirt F
+AD - Department of Medicine A, University Medicine Greifswald, Greifswald, Germany.
+FAU - Simon, Peter
+AU - Simon P
+AD - Department of Medicine A, University Medicine Greifswald, Greifswald, Germany.
+FAU - Lerch, Markus M
+AU - Lerch MM
+AD - Department of Medicine A, University Medicine Greifswald, Greifswald, Germany.
+FAU - Johansson, Stefan
+AU - Johansson S
+AD - KG Jebsen Center for Diabetes Research, Department of Clinical Science,
+ University of Bergen, Bergen, Norway; Center for Medical Genetics and Molecular
+ Medicine, Haukeland University Hospital, Bergen, Norway.
+FAU - Njolstad, Pal R
+AU - Njolstad PR
+AD - KG Jebsen Center for Diabetes Research, Department of Clinical Science,
+ University of Bergen, Bergen, Norway; Department of Pediatrics, Haukeland
+ University Hospital, Bergen, Norway.
+FAU - Weiss, Frank U
+AU - Weiss FU
+AD - Department of Medicine A, University Medicine Greifswald, Greifswald, Germany.
+FAU - Fjeld, Karianne
+AU - Fjeld K
+AD - KG Jebsen Center for Diabetes Research, Department of Clinical Science,
+ University of Bergen, Bergen, Norway; Center for Medical Genetics and Molecular
+ Medicine, Haukeland University Hospital, Bergen, Norway. Electronic address:
+ karianne.fjeld@uib.no.
+FAU - Molven, Anders
+AU - Molven A
+AD - KG Jebsen Center for Diabetes Research, Department of Clinical Science,
+ University of Bergen, Bergen, Norway; Gade Laboratory for Pathology, Department
+ of Clinical Medicine, University of Bergen, Bergen, Norway; Department of
+ Pathology, Haukeland University Hospital, Bergen, Norway.
+LA - eng
+PT - Journal Article
+DEP - 20161011
+PL - Switzerland
+TA - Pancreatology
+JT - Pancreatology : official journal of the International Association of
+ Pancreatology (IAP) ... [et al.]
+JID - 100966936
+RN - 0 (Biomarkers, Tumor)
+RN - EC 3.1.1.3 (CEL protein, human)
+RN - EC 3.1.1.3 (Lipase)
+SB - IM
+MH - Adenocarcinoma/*genetics
+MH - Biomarkers, Tumor/*genetics
+MH - Case-Control Studies
+MH - *DNA Copy Number Variations
+MH - Female
+MH - Humans
+MH - Lipase/*genetics
+MH - Male
+MH - *Minisatellite Repeats
+MH - Pancreatic Neoplasms/*genetics
+MH - Risk Factors
+OTO - NOTNLM
+OT - Allele frequency
+OT - Carboxyl-ester lipase
+OT - Copy number variation
+OT - Genotyping
+OT - Pancreatic cancer
+OT - Variable number of tandem repeats
+EDAT- 2016/10/25 06:00
+MHDA- 2017/08/10 06:00
+CRDT- 2016/10/25 06:00
+PHST- 2016/06/19 00:00 [received]
+PHST- 2016/10/05 00:00 [revised]
+PHST- 2016/10/09 00:00 [accepted]
+PHST- 2016/10/25 06:00 [pubmed]
+PHST- 2017/08/10 06:00 [medline]
+PHST- 2016/10/25 06:00 [entrez]
+AID - S1424-3903(16)31222-4 [pii]
+AID - 10.1016/j.pan.2016.10.006 [doi]
+PST - ppublish
+SO - Pancreatology. 2017 Jan-Feb;17(1):83-88. doi: 10.1016/j.pan.2016.10.006. Epub
+ 2016 Oct 11.
+
+PMID- 23395566
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20130729
+LR - 20210128
+IS - 1424-3911 (Electronic)
+IS - 1424-3903 (Linking)
+VI - 13
+IP - 1
+DP - 2013 Jan-Feb
+TI - The number of tandem repeats in the carboxyl-ester lipase (CEL) gene as a risk
+ factor in alcoholic and idiopathic chronic pancreatitis.
+PG - 29-32
+LID - S1424-3903(12)00607-2 [pii]
+LID - 10.1016/j.pan.2012.12.059 [doi]
+AB - BACKGROUND/AIMS: The variable number of tandem repeats (VNTR) in the last exon of
+ the carboxyl-ester lipase (CEL) gene has been reported to associate with
+ alcohol-induced chronic pancreatitis (ACP) in a Japanese study. Here, we have
+ investigated the association between the number of CEL VNTR repeats and ACP or
+ idiopathic chronic pancreatitis (ICP) in a cohort of German patients. METHODS:
+ Patients diagnosed with ACP (n = 203) or ICP (n = 64) were genotyped using a
+ screening method consisting of PCR followed by DNA fragment analysis. The allele
+ frequencies of different CEL VNTR lengths were compared to the frequencies in
+ healthy controls (n = 390). RESULTS: We observed no statistical significant
+ associations between CEL VNTR allele frequencies and ACP or ICP. CONCLUSION: This
+ study did not find evidence that supported an association between the common
+ length variations of the CEL VNTR and chronic pancreatitis.
+CI - Copyright (c) 2013 IAP and EPC. Published by Elsevier B.V. All rights reserved.
+FAU - Ragvin, Anja
+AU - Ragvin A
+AD - KG Jebsen Center for Diabetes Research, Department of Clinical Medicine,
+ University of Bergen, Bergen, Norway.
+FAU - Fjeld, Karianne
+AU - Fjeld K
+FAU - Weiss, F Ulrich
+AU - Weiss FU
+FAU - Torsvik, Janniche
+AU - Torsvik J
+FAU - Aghdassi, Ali
+AU - Aghdassi A
+FAU - Mayerle, Julia
+AU - Mayerle J
+FAU - Simon, Peter
+AU - Simon P
+FAU - Njolstad, Pal R
+AU - Njolstad PR
+FAU - Lerch, Markus M
+AU - Lerch MM
+FAU - Johansson, Stefan
+AU - Johansson S
+FAU - Molven, Anders
+AU - Molven A
+LA - eng
+PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
+DEP - 20121220
+PL - Switzerland
+TA - Pancreatology
+JT - Pancreatology : official journal of the International Association of
+ Pancreatology (IAP) ... [et al.]
+JID - 100966936
+RN - EC 3.1.1.3 (CEL protein, human)
+RN - EC 3.1.1.3 (Lipase)
+SB - IM
+MH - Alcoholism/*complications/genetics
+MH - Cohort Studies
+MH - Gene Frequency
+MH - Germany
+MH - Humans
+MH - Lipase/*genetics
+MH - Pancreatitis, Chronic/*genetics
+MH - Risk Factors
+EDAT- 2013/02/12 06:00
+MHDA- 2013/07/31 06:00
+CRDT- 2013/02/12 06:00
+PHST- 2012/10/11 00:00 [received]
+PHST- 2012/12/12 00:00 [revised]
+PHST- 2012/12/13 00:00 [accepted]
+PHST- 2013/02/12 06:00 [entrez]
+PHST- 2013/02/12 06:00 [pubmed]
+PHST- 2013/07/31 06:00 [medline]
+AID - S1424-3903(12)00607-2 [pii]
+AID - 10.1016/j.pan.2012.12.059 [doi]
+PST - ppublish
+SO - Pancreatology. 2013 Jan-Feb;13(1):29-32. doi: 10.1016/j.pan.2012.12.059. Epub
+ 2012 Dec 20.
+
+PMID- 21784842
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20111209
+LR - 20240324
+IS - 1083-351X (Electronic)
+IS - 0021-9258 (Print)
+IS - 0021-9258 (Linking)
+VI - 286
+IP - 40
+DP - 2011 Oct 7
+TI - Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl
+ ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein
+ misfolding disease.
+PG - 34593-605
+LID - 10.1074/jbc.M111.222679 [doi]
+AB - CEL-maturity onset diabetes of the young (MODY), diabetes with pancreatic
+ lipomatosis and exocrine dysfunction, is due to dominant frameshift mutations in
+ the acinar cell carboxyl ester lipase gene (CEL). As Cel knock-out mice do not
+ express the phenotype and the mutant protein has an altered and intrinsically
+ disordered tandem repeat domain, we hypothesized that the disease mechanism might
+ involve a negative effect of the mutant protein. In silico analysis showed that
+ the pI of the tandem repeat was markedly increased from pH 3.3 in wild-type (WT)
+ to 11.8 in mutant (MUT) human CEL. By stably overexpressing CEL-WT and CEL-MUT in
+ HEK293 cells, we found similar glycosylation, ubiquitination, constitutive
+ secretion, and quality control of the two proteins. The CEL-MUT protein
+ demonstrated, however, a high propensity to form aggregates found intracellularly
+ and extracellularly. Different physicochemical properties of the intrinsically
+ disordered tandem repeat domains of WT and MUT proteins may contribute to
+ different short and long range interactions with the globular core domain and
+ other macromolecules, including cell membranes. Thus, we propose that CEL-MODY is
+ a protein misfolding disease caused by a negative gain-of-function effect of the
+ mutant proteins in pancreatic tissues.
+FAU - Johansson, Bente B
+AU - Johansson BB
+AD - Department of Clinical Medicine, University of Bergen, N-5020 Bergen, Norway.
+FAU - Torsvik, Janniche
+AU - Torsvik J
+FAU - Bjorkhaug, Lise
+AU - Bjorkhaug L
+FAU - Vesterhus, Mette
+AU - Vesterhus M
+FAU - Ragvin, Anja
+AU - Ragvin A
+FAU - Tjora, Erling
+AU - Tjora E
+FAU - Fjeld, Karianne
+AU - Fjeld K
+FAU - Hoem, Dag
+AU - Hoem D
+FAU - Johansson, Stefan
+AU - Johansson S
+FAU - Raeder, Helge
+AU - Raeder H
+FAU - Lindquist, Susanne
+AU - Lindquist S
+FAU - Hernell, Olle
+AU - Hernell O
+FAU - Cnop, Miriam
+AU - Cnop M
+FAU - Saraste, Jaakko
+AU - Saraste J
+FAU - Flatmark, Torgeir
+AU - Flatmark T
+FAU - Molven, Anders
+AU - Molven A
+FAU - Njolstad, Pal R
+AU - Njolstad PR
+LA - eng
+PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
+DEP - 20110722
+PL - United States
+TA - J Biol Chem
+JT - The Journal of biological chemistry
+JID - 2985121R
+RN - 25104-18-1 (Polylysine)
+RN - EC 3.1.1.1 (Carboxylesterase)
+SB - IM
+MH - Amino Acid Sequence
+MH - Animals
+MH - Carboxylesterase/*genetics
+MH - Diabetes Mellitus, Type 2/*genetics
+MH - Endoplasmic Reticulum/metabolism
+MH - Humans
+MH - Mice
+MH - Mice, Knockout
+MH - Molecular Sequence Data
+MH - *Mutation
+MH - Pancreas, Exocrine/*metabolism/physiopathology
+MH - Polylysine/chemistry
+MH - Protein Binding
+MH - Protein Folding
+MH - Protein Structure, Tertiary
+MH - Sequence Homology, Amino Acid
+PMC - PMC3186416
+EDAT- 2011/07/26 06:00
+MHDA- 2011/12/14 06:00
+PMCR- 2012/10/07
+CRDT- 2011/07/26 06:00
+PHST- 2011/07/26 06:00 [entrez]
+PHST- 2011/07/26 06:00 [pubmed]
+PHST- 2011/12/14 06:00 [medline]
+PHST- 2012/10/07 00:00 [pmc-release]
+AID - S0021-9258(20)73842-1 [pii]
+AID - M111.222679 [pii]
+AID - 10.1074/jbc.M111.222679 [doi]
+PST - ppublish
+SO - J Biol Chem. 2011 Oct 7;286(40):34593-605. doi: 10.1074/jbc.M111.222679. Epub
+ 2011 Jul 22.
+
+PMID- 19760265
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20100217
+LR - 20260128
+IS - 1432-1203 (Electronic)
+IS - 0340-6717 (Linking)
+VI - 127
+IP - 1
+DP - 2010 Jan
+TI - Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of
+ monogenic diabetes.
+PG - 55-64
+LID - 10.1007/s00439-009-0740-8 [doi]
+AB - We have previously shown that heterozygous single-base deletions in the
+ carboxyl-ester lipase (CEL) gene cause exocrine and endocrine pancreatic
+ dysfunction in two multigenerational families. These deletions were found in the
+ first and fourth repeats of a variable number of tandem repeats (VNTR), which has
+ proven challenging to sequence due to high GC-content and considerable length
+ variation. We have therefore developed a screening method consisting of a
+ multiplex PCR followed by fragment analysis. The method detected putative
+ disease-causing insertions and deletions in the proximal repeats of the VNTR, and
+ determined the VNTR-length of each allele. When blindly testing 56 members of the
+ two families with known single-base deletions in the CEL VNTR, the method
+ correctly assessed the mutation carriers. Screening of 241 probands from
+ suspected maturity-onset diabetes of the young (MODY) families negative for
+ mutations in known MODY genes (95 individuals from Denmark and 146 individuals
+ from UK) revealed no deletions in the proximal repeats of the CEL VNTR. However,
+ we found one Danish patient with a short, novel CEL allele containing only three
+ VNTR repeats (normal range 7-23 in healthy controls). This allele co-segregated
+ with diabetes or impaired glucose tolerance in the patient's family as six of
+ seven mutation carriers were affected. We also identified individuals who had
+ three copies of a complete CEL VNTR. In conclusion, the CEL gene is highly
+ polymorphic, but mutations in CEL are likely to be a rare cause of monogenic
+ diabetes.
+FAU - Torsvik, Janniche
+AU - Torsvik J
+AD - Department of Clinical Medicine, University of Bergen, Bergen, Norway.
+FAU - Johansson, Stefan
+AU - Johansson S
+FAU - Johansen, Anders
+AU - Johansen A
+FAU - Ek, Jakob
+AU - Ek J
+FAU - Minton, Jayne
+AU - Minton J
+FAU - Raeder, Helge
+AU - Raeder H
+FAU - Ellard, Sian
+AU - Ellard S
+FAU - Hattersley, Andrew
+AU - Hattersley A
+FAU - Pedersen, Oluf
+AU - Pedersen O
+FAU - Hansen, Torben
+AU - Hansen T
+FAU - Molven, Anders
+AU - Molven A
+FAU - Njolstad, Pal R
+AU - Njolstad PR
+LA - eng
+PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
+DEP - 20090917
+PL - Germany
+TA - Hum Genet
+JT - Human genetics
+JID - 7613873
+RN - EC 3.1.1.3 (CEL protein, human)
+RN - EC 3.1.1.3 (Lipase)
+SB - IM
+MH - Adult
+MH - Aged
+MH - Alleles
+MH - DNA Mutational Analysis
+MH - Denmark
+MH - Diabetes Mellitus, Type 2/*genetics
+MH - Family Health
+MH - Female
+MH - Gene Frequency
+MH - Humans
+MH - Lipase/*genetics
+MH - Male
+MH - Middle Aged
+MH - Minisatellite Repeats/*genetics
+MH - Mutation
+MH - Pedigree
+MH - United Kingdom
+EDAT- 2009/09/18 06:00
+MHDA- 2010/02/18 06:00
+CRDT- 2009/09/18 06:00
+PHST- 2009/06/30 00:00 [received]
+PHST- 2009/08/30 00:00 [accepted]
+PHST- 2009/09/18 06:00 [entrez]
+PHST- 2009/09/18 06:00 [pubmed]
+PHST- 2010/02/18 06:00 [medline]
+AID - 10.1007/s00439-009-0740-8 [doi]
+PST - ppublish
+SO - Hum Genet. 2010 Jan;127(1):55-64. doi: 10.1007/s00439-009-0740-8. Epub 2009 Sep
+ 17.
+
+PMID- 16369531
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20060307
+LR - 20061115
+IS - 1061-4036 (Print)
+IS - 1061-4036 (Linking)
+VI - 38
+IP - 1
+DP - 2006 Jan
+TI - Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine
+ dysfunction.
+PG - 54-62
+AB - Dysfunction of the exocrine pancreas is observed in diabetes, but links between
+ concurrent exocrine and endocrine pancreatic disease and contributing genetic
+ factors are poorly characterized. We studied two families with diabetes and
+ exocrine pancreatic dysfunction by genetic, physiological and in vitro functional
+ studies. A genome-wide screen in Family 1 linked diabetes to chromosome 9q34
+ (maximal lod score 5.07). Using fecal elastase deficiency as a marker of exocrine
+ pancreatic dysfunction refined the critical chromosomal region to 1.16 Mb
+ (maximal lod score 11.6). Here, we identified a single-base deletion in the
+ variable number of tandem repeats (VNTR)-containing exon 11 of the carboxyl ester
+ lipase (CEL) gene, a major component of pancreatic juice and responsible for the
+ duodenal hydrolysis of cholesterol esters. Screening subjects with maturity-onset
+ diabetes of the young identified Family 2, with another single-base deletion in
+ CEL and a similar phenotype with beta-cell failure and pancreatic exocrine
+ disease. The in vitro catalytic activities of wild-type and mutant CEL protein
+ were comparable. The mutant enzyme was, however, less stable and secreted at a
+ lower rate. Furthermore, we found some evidence for an association between common
+ insertions in the CEL VNTR and exocrine dysfunction in a group of 182 unrelated
+ subjects with diabetes (odds ratio 4.2 (1.6, 11.5)). Our findings link diabetes
+ to the disrupted function of a lipase in the pancreatic acinar cells.
+FAU - Raeder, Helge
+AU - Raeder H
+AD - Section for Pediatrics, Department of Clinical Medicine, University of Bergen,
+ Bergen, Norway.
+FAU - Johansson, Stefan
+AU - Johansson S
+FAU - Holm, Pal I
+AU - Holm PI
+FAU - Haldorsen, Ingfrid S
+AU - Haldorsen IS
+FAU - Mas, Eric
+AU - Mas E
+FAU - Sbarra, Veronique
+AU - Sbarra V
+FAU - Nermoen, Ingrid
+AU - Nermoen I
+FAU - Eide, Stig A
+AU - Eide SA
+FAU - Grevle, Louise
+AU - Grevle L
+FAU - Bjorkhaug, Lise
+AU - Bjorkhaug L
+FAU - Sagen, Jorn V
+AU - Sagen JV
+FAU - Aksnes, Lage
+AU - Aksnes L
+FAU - Sovik, Oddmund
+AU - Sovik O
+FAU - Lombardo, Dominique
+AU - Lombardo D
+FAU - Molven, Anders
+AU - Molven A
+FAU - Njolstad, Pal Rasmus
+AU - Njolstad PR
+LA - eng
+SI - RefSeq/NM_001807
+SI - RefSeq/NP_001798
+SI - RefSeq/NT_035014
+PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
+DEP - 20051220
+PL - United States
+TA - Nat Genet
+JT - Nature genetics
+JID - 9216904
+RN - 0 (RNA, Messenger)
+RN - EC 3.1.1.3 (CEL protein, human)
+RN - EC 3.1.1.3 (Lipase)
+SB - IM
+CIN - Nat Genet. 2006 Jan;38(1):12-3. doi: 10.1038/ng0106-12. PMID: 16380722
+MH - Adult
+MH - Animals
+MH - CHO Cells
+MH - Cricetinae
+MH - Cricetulus
+MH - Diabetes Mellitus, Type 2/etiology/*genetics/pathology
+MH - Female
+MH - Humans
+MH - Insulin-Secreting Cells/pathology
+MH - Lipase/*genetics/metabolism
+MH - Male
+MH - *Minisatellite Repeats
+MH - Molecular Sequence Data
+MH - *Mutation
+MH - Pancreas, Exocrine/*physiopathology
+MH - Pedigree
+MH - RNA, Messenger/metabolism
+EDAT- 2005/12/22 09:00
+MHDA- 2006/03/08 09:00
+CRDT- 2005/12/22 09:00
+PHST- 2005/08/22 00:00 [received]
+PHST- 2005/10/27 00:00 [accepted]
+PHST- 2005/12/22 09:00 [pubmed]
+PHST- 2006/03/08 09:00 [medline]
+PHST- 2005/12/22 09:00 [entrez]
+AID - ng1708 [pii]
+AID - 10.1038/ng1708 [doi]
+PST - ppublish
+SO - Nat Genet. 2006 Jan;38(1):54-62. doi: 10.1038/ng1708. Epub 2005 Dec 20.
+
+PMID- 15841033
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20060307
+LR - 20190906
+IS - 1536-4828 (Electronic)
+IS - 0885-3177 (Linking)
+VI - 30
+IP - 4
+DP - 2005 May
+TI - Carboxylester lipase gene polymorphism as a risk of alcohol-induced pancreatitis.
+PG - e87-91
+AB - OBJECTIVES: Alcohol abuse causes pancreatic damage in humans. However, only 5% of
+ alcoholic patients have a clinical manifestation of pancreatitis, and the genetic
+ predisposition of alcohol-associated pancreatitis remains elusive. Nonoxidative
+ metabolites of ethanol, fatty acid ethyl esters (FAEEs), might play an important
+ role in pancreatic damage. Carboxylester lipase (CEL) has been known to catalyze
+ FAEE synthesis from fatty acids and ethanol. METHODS: The variable number of
+ tandem repeat (VNTR) polymorphism in the coding region of the CEL gene was
+ studied in patients with alcoholic pancreatitis (n = 100), in alcoholics without
+ pancreatitis (n = 52), in patients with nonalcoholic pancreatitis (n = 50), in
+ hyperlipidemia patients (n = 96), and control subjects (n = 435). RESULTS: The
+ frequency of the NN-type (wild-type) gene was significantly decreased in patients
+ with alcoholic pancreatitis than in other groups. The frequency of subjects who
+ had the L allele in patients with alcoholic pancreatitis was significantly higher
+ than in other groups. The distribution of the CEL gene polymorphism was not
+ different among the control subjects, alcoholics without pancreatitis, patients
+ with nonalcoholic pancreatitis, and patients with hyperlipidemia. CONCLUSIONS:
+ The CEL gene polymorphism, especially an increase in the frequency of the L
+ allele, was found to be associated with alcohol-induced pancreatitis.
+FAU - Miyasaka, Kyoko
+AU - Miyasaka K
+AD - Department of Clinical Physiology, Tokyo Metropolitan Institute of Gerontology,
+ Tokyo, Japan. miyasaka@tmig.or.jp
+FAU - Ohta, Minoru
+AU - Ohta M
+FAU - Takano, Saeko
+AU - Takano S
+FAU - Hayashi, Hiroshi
+AU - Hayashi H
+FAU - Higuchi, Susumu
+AU - Higuchi S
+FAU - Maruyama, Katsuya
+AU - Maruyama K
+FAU - Tando, Yusuke
+AU - Tando Y
+FAU - Nakamura, Teruo
+AU - Nakamura T
+FAU - Takata, Yutaka
+AU - Takata Y
+FAU - Funakoshi, Akihiro
+AU - Funakoshi A
+LA - eng
+PT - Comparative Study
+PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
+PL - United States
+TA - Pancreas
+JT - Pancreas
+JID - 8608542
+RN - EC 1.2.1.3 (ALDH2 protein, human)
+RN - EC 1.2.1.3 (Aldehyde Dehydrogenase)
+RN - EC 1.2.1.3 (Aldehyde Dehydrogenase, Mitochondrial)
+RN - EC 3.1.1.1 (Carboxylesterase)
+SB - IM
+MH - Aged
+MH - Aldehyde Dehydrogenase/genetics
+MH - Aldehyde Dehydrogenase, Mitochondrial
+MH - Alleles
+MH - Carboxylesterase/*genetics
+MH - Female
+MH - Genetic Predisposition to Disease/epidemiology
+MH - Genotype
+MH - Humans
+MH - Hyperlipidemias/epidemiology/genetics
+MH - Male
+MH - Middle Aged
+MH - Pancreatitis/epidemiology/genetics
+MH - Pancreatitis, Alcoholic/*epidemiology/*genetics
+MH - *Polymorphism, Genetic
+MH - Risk Factors
+EDAT- 2005/04/21 09:00
+MHDA- 2006/03/08 09:00
+CRDT- 2005/04/21 09:00
+PHST- 2005/04/21 09:00 [pubmed]
+PHST- 2006/03/08 09:00 [medline]
+PHST- 2005/04/21 09:00 [entrez]
+AID - 00006676-200505000-00022 [pii]
+AID - 10.1097/01.mpa.0000160960.21580.ml [doi]
+PST - ppublish
+SO - Pancreas. 2005 May;30(4):e87-91. doi: 10.1097/01.mpa.0000160960.21580.ml.
+
diff --git a/data/literature/CNBP_batch_01.txt b/data/literature/CNBP_batch_01.txt
index 87763812..22e85539 100644
--- a/data/literature/CNBP_batch_01.txt
+++ b/data/literature/CNBP_batch_01.txt
@@ -1,116 +1,476 @@
+PMID- 42094143
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260525
+LR - 20260525
+DP - 2026 May 1
+TI - Genome-wide detection and clinical prioritization of tandem repeat outliers using
+ long-read sequencing.
+LID - 2026.04.30.26352103 [pii]
+LID - 10.64898/2026.04.30.26352103 [doi]
+AB - BACKGROUND: Tandem repeat expansions (TREs) cause over 60 known neurological,
+ neuromuscular, and developmental disorders. Detecting these expansions
+ genome-wide is challenging due to their size, sequence complexity (including
+ interruptions), and population variation. While long-read sequencing is an
+ emerging technology that can fully resolve many TREs, no methods have been
+ described for genome-wide identification and prioritization of candidate
+ pathogenic TREs with this technology. METHODS: Using a newly developed pipeline
+ called TRoLR (Tandem Repeat outliers identified with Long Reads), we analyzed
+ haplotype-resolved long-read genome assemblies from 471 ancestrally diverse
+ individuals to define population distributions for over three million tandem
+ repeat loci, capturing clinically relevant interruptions. Outlier expansions were
+ identified relative to these distributions and prioritized by genomic location
+ and comparison to known pathogenic loci. The framework was applied to 47 cases
+ from the Undiagnosed Diseases Network. RESULTS: Population stratification of
+ repeat metrics was observed at 7% of loci, with highest variability among
+ individuals of African ancestry. Outlier analysis confirmed known pathogenic CNBP
+ and ATXN8OS expansions, detected carrier-range alleles at RFC1, CSTB, and FXN,
+ and revealed a novel CGG expansion in the 5' UTR of PCMTD2 exhibiting
+ hypermethylation and intergenerational instability. Genome-wide screening also
+ identified intronic pentanucleotide expansions at IQCB1 and MAP3K15 in controls
+ composed of motifs that have been associated with pathogenicity at other disease
+ loci. CONCLUSIONS: Quantifying the longest uninterrupted repeat segment in
+ long-read assemblies enables detection of clinically relevant repeat expansions
+ and loss of stabilizing interruptions. This approach enhances both diagnostic
+ confirmation and discovery of candidate pathogenic expansions, with implications
+ for clinical interpretation and research into complex repeat-mediated disorders.
+FAU - Gibson, Sophia B
+AU - Gibson SB
+AUID- ORCID: 0000-0001-9839-9045
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+FAU - Damaraju, Nikhita
+AU - Damaraju N
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+AD - Institute for Public Health Genetics, University of Washington School of Public
+ Health, Seattle, WA.
+FAU - Gustafson, J Gus
+AU - Gustafson JG
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+AD - Molecular and Cellular Biology Program, University of Washington, Seattle, WA.
+FAU - Balton, Elsa V
+AU - Balton EV
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Chanprasert, Sirisak
+AU - Chanprasert S
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Glass, Ian A
+AU - Glass IA
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+FAU - Horike-Pyne, Martha
+AU - Horike-Pyne M
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Kumar, Runjun D
+AU - Kumar RD
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+FAU - Leppig, Kathleen A
+AU - Leppig KA
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Lundberg, Chris
+AU - Lundberg C
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Ranchalis, Jane
+AU - Ranchalis J
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Rosenthal, Elisabeth A
+AU - Rosenthal EA
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Solomon, Andrew K
+AU - Solomon AK
+AD - Division of Rheumatology, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Stergachis, Andrew B
+AU - Stergachis AB
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Wener, Mark
+AU - Wener M
+AD - Division of Rheumatology, Department of Medicine, University of Washington,
+ Seattle, WA.
+CN - Undiagnosed Diseases Network
+FAU - Jarvik, Gail P
+AU - Jarvik GP
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Blue, Elizabeth E
+AU - Blue EE
+AD - Institute for Public Health Genetics, University of Washington School of Public
+ Health, Seattle, WA.
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+AD - Brotman Baty Institute for Precision Medicine, University of Washington, Seattle,
+ WA.
+FAU - Dipple, Katrina M
+AU - Dipple KM
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Center for Clinical and Translational Research, Seattle Children's Research
+ Institute, Seattle, WA.
+FAU - Dashnow, Harriet
+AU - Dashnow H
+AD - Department of Biomedical Informatics, University of Colorado Anschutz, Aurora,
+ CO.
+FAU - Starita, Lea M
+AU - Starita LM
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Brotman Baty Institute for Precision Medicine, University of Washington, Seattle,
+ WA.
+FAU - Miller, Danny E
+AU - Miller DE
+AUID- ORCID: 0000-0001-6096-8601
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+AD - Brotman Baty Institute for Precision Medicine, University of Washington, Seattle,
+ WA.
+LA - eng
+PT - Journal Article
+PT - Preprint
+DEP - 20260501
+PL - United States
+TA - medRxiv
+JT - medRxiv : the preprint server for health sciences
+JID - 101767986
+PMC - PMC13142565
+OTO - NOTNLM
+OT - clinical genomics
+OT - long-read sequencing
+OT - longest pure segment
+OT - outlier detection
+OT - population reference
+OT - repeat expansion disorders
+OT - tandem repeat expansion
+EDAT- 2026/05/07 06:36
+MHDA- 2026/05/07 06:37
+PMCR- 2026/05/05
+CRDT- 2026/05/07 05:10
+PHST- 2026/05/07 06:36 [pubmed]
+PHST- 2026/05/07 06:37 [medline]
+PHST- 2026/05/07 05:10 [entrez]
+PHST- 2026/05/05 00:00 [pmc-release]
+AID - 2026.04.30.26352103 [pii]
+AID - 10.64898/2026.04.30.26352103 [doi]
+PST - epublish
+SO - medRxiv [Preprint]. 2026 May 1:2026.04.30.26352103. doi:
+ 10.64898/2026.04.30.26352103.
+
PMID- 42003432
OWN - NLM
-STAT- Publisher
-LR - 20260420
+STAT- MEDLINE
+DCOM- 20260518
+LR - 20260518
IS - 1754-8411 (Electronic)
IS - 1754-8403 (Linking)
-DP - 2026 Apr 20
-TI - Distinct cellular effects of myotonic dystrophy type 2 RAN tetrapeptides in
- Drosophila melanogaster.
-LID - dmm.052729 [pii]
+VI - 19
+IP - 5
+DP - 2026 May 1
+TI - Distinct cellular effects of myotonic dystrophy type 2 repeat-associated non-AUG
+ tetrapeptides.
+LID - dmm052729 [pii]
LID - 10.1242/dmm.052729 [doi]
AB - Myotonic dystrophy type 2 (DM2) is an autosomal dominant, multisystemic disorder
caused by the expansion of CCTG repeats in the first intron of the CNBP gene.
Repeat-associated non-AUG (RAN) translation of the expanded CCTG RNA generates
- two tetrapeptide repeat proteins (TPRs), polyQAGR and polyLPAC, whose roles in
- DM2 pathogenesis remain unclear. To define their individual contributions, we
+ two tetrapeptide repeat proteins, polyQAGR and polyLPAC, but their roles in DM2
+ pathogenesis remain unclear. To define their individual contributions, we
expressed codon-optimized polyQAGR and polyLPAC peptides with an ATG start codon
- in Drosophila melanogaster. Expression of both TPRs reduced viability and
- lifespan and induced eye degeneration and locomotor defects. We found that
- polyQAGR accumulated in the nucleolus, disrupted nucleolar integrity, and
- impaired rRNA processing. It also interfered with autophagy, promoting Atg5 and
- Atg7 transcription and accumulation of Atg8a- and Ref(2)P-positive aggregates.
- Consistently, overexpression of Atg8a or Ref(2)P mitigated polyQAGR-induced eye
- toxicity, whereas knockdown of autophagy genes worsened it. Conversely, polyLPAC
- increase the cytoplasmic pool of TIAR in human cells and in DM2 patient-derived
- myoblasts. Together, these findings show that polyQAGR and polyLPAC exert
- distinct toxic effects that likely converge to drive DM2 pathogenesis and may
- represent promising therapeutic targets.
+ in Drosophila melanogaster. Expression of both tetrapeptide repeat proteins
+ reduced viability and lifespan and induced eye degeneration and locomotor
+ defects. We found that polyQAGR accumulated in the nucleolus, disrupted nucleolar
+ integrity and impaired rRNA processing. It also interfered with autophagy,
+ promoting Atg5 and Atg7 transcription and accumulation of Atg8a- and
+ Ref(2)P-positive aggregates. Overexpression of Atg8a or Ref(2)P mitigated
+ polyQAGR-induced eye toxicity, whereas knockdown of autophagy genes worsened it.
+ Conversely, PolyLPAC expression increased the cytoplasmic pool of TIAR in human
+ cells and in DM2 patient-derived myoblasts. Together, these findings show that
+ polyQAGR and polyLPAC exert distinct toxic effects that likely converge to drive
+ DM2 pathogenesis and may represent promising therapeutic targets.
CI - (c) 2026. Published by The Company of Biologists.
FAU - Marzullo, Marta
AU - Marzullo M
AUID- ORCID: 0000-0001-7229-1693
-AD - Department of Biology and Biotechnologies "C. Darwin", Sapienza University of
- Rome, Italy.
+AD - Department of Biology and Biotechnologies 'C. Darwin', Sapienza University of
+ Rome, 00185 Rome, Italy.
AD - Institute of Molecular Biology and Pathology, National Research Council (IBPM,
- CNR), c/o Sapienza University of Rome, Italy.
+ CNR), c/o Department of Biology and Biotechnologies 'C. Darwin', Sapienza
+ University of Rome, 00185 Rome, Italy.
FAU - De Simone, Assia
AU - De Simone A
-AD - Department of Biology and Biotechnologies "C. Darwin", Sapienza University of
- Rome, Italy.
+AD - Department of Biology and Biotechnologies 'C. Darwin', Sapienza University of
+ Rome, 00185 Rome, Italy.
FAU - Terribili, Marta
AU - Terribili M
AUID- ORCID: 0009-0003-7183-4360
-AD - Department of Biology and Biotechnologies "C. Darwin", Sapienza University of
- Rome, Italy.
+AD - Department of Biology and Biotechnologies 'C. Darwin', Sapienza University of
+ Rome, 00185 Rome, Italy.
FAU - Di Salvio, Michela
AU - Di Salvio M
AUID- ORCID: 0000-0002-5817-1297
-AD - Department of Biology and Biotechnologies "C. Darwin", Sapienza University of
- Rome, Italy.
+AD - Department of Biology and Biotechnologies 'C. Darwin', Sapienza University of
+ Rome, 00185 Rome, Italy.
AD - Institute of Molecular Biology and Pathology, National Research Council (IBPM,
- CNR), c/o Sapienza University of Rome, Italy.
+ CNR), c/o Department of Biology and Biotechnologies 'C. Darwin', Sapienza
+ University of Rome, 00185 Rome, Italy.
FAU - Mengistu, Degisew Yinur
AU - Mengistu DY
AUID- ORCID: 0000-0001-9086-132X
-AD - Department of Biology and Biotechnologies "C. Darwin", Sapienza University of
- Rome, Italy.
+AD - Department of Biology and Biotechnologies 'C. Darwin', Sapienza University of
+ Rome, 00185 Rome, Italy.
FAU - Somma, Maria Patrizia
AU - Somma MP
AUID- ORCID: 0000-0002-7585-3484
-AD - Department of Biology and Biotechnologies "C. Darwin", Sapienza University of
- Rome, Italy.
+AD - Department of Biology and Biotechnologies 'C. Darwin', Sapienza University of
+ Rome, 00185 Rome, Italy.
AD - Institute of Molecular Biology and Pathology, National Research Council (IBPM,
- CNR), c/o Sapienza University of Rome, Italy.
+ CNR), c/o Department of Biology and Biotechnologies 'C. Darwin', Sapienza
+ University of Rome, 00185 Rome, Italy.
FAU - D'Amico, Rodrigo
AU - D'Amico R
-AD - Department of Molecular Medicine, Sapienza University of Rome, Italy.
+AD - Department of Molecular Medicine, Sapienza University of Rome, 00185 Rome, Italy.
FAU - Canettieri, Gianluca
AU - Canettieri G
AUID- ORCID: 0000-0001-6694-2613
-AD - Department of Molecular Medicine, Sapienza University of Rome, Italy.
+AD - Department of Molecular Medicine, Sapienza University of Rome, 00185 Rome, Italy.
FAU - Cestra, Gianluca
AU - Cestra G
AUID- ORCID: 0000-0002-6322-631X
-AD - Department of Biology and Biotechnologies "C. Darwin", Sapienza University of
- Rome, Italy.
+AD - Department of Biology and Biotechnologies 'C. Darwin', Sapienza University of
+ Rome, 00185 Rome, Italy.
AD - Institute of Molecular Biology and Pathology, National Research Council (IBPM,
- CNR), c/o Sapienza University of Rome, Italy.
+ CNR), c/o Department of Biology and Biotechnologies 'C. Darwin', Sapienza
+ University of Rome, 00185 Rome, Italy.
FAU - Ciapponi, Laura
AU - Ciapponi L
AUID- ORCID: 0000-0002-0817-1862
-AD - Department of Biology and Biotechnologies "C. Darwin", Sapienza University of
- Rome, Italy.
+AD - Department of Biology and Biotechnologies 'C. Darwin', Sapienza University of
+ Rome, 00185 Rome, Italy.
LA - eng
GR - P2022S7H3H/Ministero dell'Universite e della Ricerca/
-GR - P2022S7H3H/Ministero dell'Universite e della Ricerca/
GR - GMR22T1027/Fondazione Telethon/
+GR - 28731/AFM-Telethon/
+GR - P2022S7H3H CUP/Ministero dell'Universita e della Ricerca/
+GR - B53D23024810001/Ministero dell'Universita e della Ricerca/
+GR - B53D23024800001/Ministero dell'Universita e della Ricerca/
+GR - GMR22T1027/Fondazione Telethon /
PT - Journal Article
-DEP - 20260420
+DEP - 20260518
PL - England
TA - Dis Model Mech
JT - Disease models & mechanisms
JID - 101483332
+RN - 0 (Peptides)
+RN - 0 (Drosophila Proteins)
+RN - 26700-71-0 (polyglutamine)
+RN - 0 (RNA-Binding Proteins)
+RN - 0 (RNA, Ribosomal)
+RN - 0 (Oligopeptides)
SB - IM
+MH - *Myotonic Dystrophy/pathology/genetics
+MH - Humans
+MH - Drosophila melanogaster/genetics/metabolism
+MH - Animals
+MH - Autophagy/genetics
+MH - Peptides/metabolism
+MH - Drosophila Proteins/metabolism/genetics
+MH - Cell Nucleolus/metabolism
+MH - Eye/pathology
+MH - Myoblasts/metabolism/pathology
+MH - RNA-Binding Proteins/metabolism
+MH - RNA, Ribosomal/metabolism
+MH - *Oligopeptides/metabolism
OTO - NOTNLM
OT - Drosophila melanogaster
-OT - Myotonic Dystrophy type 2
+OT - LPAC
+OT - Myotonic dystrophy type 2
OT - Protein toxicity
-OT - QAGR and LPAC
+OT - QAGR
OT - Repeat expansion disorders
+COIS- Competing interests The authors declare no competing or financial interests.
EDAT- 2026/04/20 13:10
-MHDA- 2026/04/20 13:10
+MHDA- 2026/05/18 06:31
CRDT- 2026/04/20 04:43
PHST- 2025/11/03 00:00 [received]
PHST- 2026/04/09 00:00 [accepted]
-PHST- 2026/04/20 13:10 [medline]
+PHST- 2026/05/18 06:31 [medline]
PHST- 2026/04/20 13:10 [pubmed]
PHST- 2026/04/20 04:43 [entrez]
AID - 371398 [pii]
AID - 10.1242/dmm.052729 [doi]
-PST - aheadofprint
-SO - Dis Model Mech. 2026 Apr 20:dmm.052729. doi: 10.1242/dmm.052729.
+PST - ppublish
+SO - Dis Model Mech. 2026 May 1;19(5):dmm052729. doi: 10.1242/dmm.052729. Epub 2026
+ May 18.
+
+PMID- 41937177
+OWN - NLM
+STAT- In-Process
+LR - 20260524
+IS - 1479-7364 (Electronic)
+IS - 1473-9542 (Print)
+IS - 1473-9542 (Linking)
+VI - 20
+IP - 1
+DP - 2026 Apr 5
+TI - The novel (TCTG)(n) motif in CNBP expanded alleles: composition, dynamics and
+ genotype-phenotype correlation in Myotonic dystrophy type 2 (DM2).
+LID - 10.1186/s40246-026-00954-7 [doi]
+LID - 87
+AB - Introduction. Myotonic dystrophy type 2 (DM2) is an autosomal dominant disorder
+ caused by (CCTG)(n) repeat expansions in intron 1 of the CNBP gene. Recent
+ evidence from long-read sequencing suggests these expansions may be more complex
+ than previously recognized. Aim. To comprehensively characterize the composition,
+ intergenerational dynamics, and clinical impact of novel (TCTG)(n) motifs within
+ the CNBP expanded alleles in a large DM2 cohort. Methods. We analyzed 100
+ genetically confirmed DM2 individuals (45 sporadic, 55 familial). The presence of
+ (TCTG)(n) blocks was detected using an optimized quadruplet-repeat primed PCR
+ (QP-PCR) assay coupled with Sanger sequencing. In a subset of nine patients,
+ Cas9-mediated enrichment followed by Nanopore Long-Read Sequencing (LRS) provided
+ nucleotide-level resolution of the expanded alleles. Haplotype analysis was
+ performed using STR markers. Results. We identified (TCTG)(n) blocks at the 3'
+ end of the expansion in 88% of patients. This refined assay corrected nine
+ initial false-negative diagnoses from standard testing. LRS analysis confirmed
+ the composition and revealed the dynamics of the (TCTG)(n) tract in familial
+ transmission, showing a tendency for contraction and, in one case, complete loss.
+ Genotype-phenotype correlation analysis indicated that the presence of the
+ (TCTG)(n) motif acts as a disease modifier, significantly influencing the age of
+ onset. Conclusion. The detailed characterization of the CNBP expansion reveals
+ the novel (TCTG)(n) component that is integral to the DM2 genotype. Understanding
+ its composition and dynamics enhances diagnostic accuracy and provides a new
+ framework for genetic counselling, prognostic stratification and future
+ personalized therapies. . SUPPLEMENTARY INFORMATION: The online version contains
+ supplementary material available at 10.1186/s40246-026-00954-7.
+FAU - Centofanti, Federica
+AU - Centofanti F
+AD - Department of Biomedicine and Prevention, Medical Genetics Section, University of
+ Rome Tor Vergata, Rome, Italy.
+FAU - Visconti, Virginia Veronica
+AU - Visconti VV
+AD - Department of Biomedicine and Prevention, Medical Genetics Section, University of
+ Rome Tor Vergata, Rome, Italy.
+FAU - D'Apice, Maria Rosaria
+AU - D'Apice MR
+AD - Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy.
+FAU - Carlomagno, Marco
+AU - Carlomagno M
+AD - Department of Biotechnology, University of Verona, Verona, Italy.
+FAU - Maestri, Simone
+AU - Maestri S
+AD - Department of Biotechnology, University of Verona, Verona, Italy.
+FAU - Ciabini, Dario
+AU - Ciabini D
+AD - Department of Biomedicine and Prevention, Medical Genetics Section, University of
+ Rome Tor Vergata, Rome, Italy.
+FAU - Bengala, Mario
+AU - Bengala M
+AD - Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy.
+FAU - Marchionni, Enrica
+AU - Marchionni E
+AD - Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy.
+FAU - Frezza, Erica
+AU - Frezza E
+AD - Department of Systems Medicine (Neurology), University of Rome Tor Vergata, Rome,
+ Italy.
+FAU - Massa, Roberto
+AU - Massa R
+AD - Department of Systems Medicine (Neurology), University of Rome Tor Vergata, Rome,
+ Italy.
+FAU - Petrucci, Antonio
+AU - Petrucci A
+AD - Center for Neuromuscular and Neurological Rare Diseases, S. Camillo Forlanini
+ Hospital, Rome, Italy.
+FAU - Lupidi, Francesca
+AU - Lupidi F
+AD - Neurological Clinic, Azienda Ospedaliera Universitaria delle Marche, Ancona,
+ Italy.
+FAU - Pegoraro, Elena
+AU - Pegoraro E
+AD - Department of Neuroscience, University of Padova, Padua, Italy.
+FAU - Siciliano, Gabriele
+AU - Siciliano G
+AD - Department of Clinical and Experimental Medicine, University of Pisa, Pisa,
+ Italy.
+FAU - Garibaldi, Matteo
+AU - Garibaldi M
+AD - Neuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital,
+ Rome, Italy.
+AD - Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA
+ University of Rome, Rome, Italy.
+FAU - Origone, Paola
+AU - Origone P
+AD - Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal
+ and Infantile Sciences, University of Genoa, Genova, Italy.
+AD - IRCCS Azienda Ospedaliera Metropolitana, Genoa, Italy.
+FAU - Delledonne, Massimo
+AU - Delledonne M
+AD - Department of Biotechnology, University of Verona, Verona, Italy.
+FAU - Rossato, Marzia
+AU - Rossato M
+AD - Department of Biotechnology, University of Verona, Verona, Italy.
+FAU - Botta, Annalisa
+AU - Botta A
+AD - Department of Biomedicine and Prevention, Medical Genetics Section, University of
+ Rome Tor Vergata, Rome, Italy. botta@med.uniroma2.it.
+FAU - Novelli, Giuseppe
+AU - Novelli G
+AD - Department of Biomedicine and Prevention, Medical Genetics Section, University of
+ Rome Tor Vergata, Rome, Italy.
+LA - eng
+PT - Journal Article
+DEP - 20260405
+PL - England
+TA - Hum Genomics
+JT - Human genomics
+JID - 101202210
+SB - IM
+PMC - PMC13195993
+OTO - NOTNLM
+OT - CNBP repeat expansions
+OT - Long read sequencing (LRS)
+OT - Myotonic dystrophy type 2 (DM2)
+OT - QP-PCR
+OT - Variant repeats (VRs)
+COIS- Declarations. Ethics approval and consent to participate: The study was approved
+ by the institutional review board of Policlinico Tor Vergata (Ethical Approval
+ register numbers: 61/23), and all procedures were performed in accordance with
+ the Declaration of Helsinki. Informed consent was obtained from all participants.
+ Competing interests: The authors declare no competing interests.
+EDAT- 2026/04/06 00:31
+MHDA- 2026/04/06 00:31
+PMCR- 2026/04/05
+CRDT- 2026/04/05 23:44
+PHST- 2025/12/22 00:00 [received]
+PHST- 2026/03/18 00:00 [accepted]
+PHST- 2026/04/06 00:31 [pubmed]
+PHST- 2026/04/06 00:31 [medline]
+PHST- 2026/04/05 23:44 [entrez]
+PHST- 2026/04/05 00:00 [pmc-release]
+AID - 10.1186/s40246-026-00954-7 [pii]
+AID - 954 [pii]
+AID - 10.1186/s40246-026-00954-7 [doi]
+PST - epublish
+SO - Hum Genomics. 2026 Apr 5;20(1):87. doi: 10.1186/s40246-026-00954-7.
PMID- 41610137
OWN - NLM
@@ -345,7 +705,7 @@ PMID- 40113266
OWN - NLM
STAT- MEDLINE
DCOM- 20250414
-LR - 20250504
+LR - 20260507
IS - 1549-5469 (Electronic)
IS - 1088-9051 (Print)
IS - 1088-9051 (Linking)
@@ -482,7 +842,10 @@ AD - Department of Internal Medicine, Radboud Expertise Center for Immunodefici
and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud
University Medical Center, 6525GA Nijmegen, the Netherlands.
LA - eng
+GR - 779257/ERC_/European Research Council/International
+GR - 101156595/ERC_/European Research Council/International
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20250414
PL - United States
TA - Genome Res
diff --git a/data/literature/CSNK1E_batch_01.txt b/data/literature/CSNK1E_batch_01.txt
new file mode 100644
index 00000000..47853954
--- /dev/null
+++ b/data/literature/CSNK1E_batch_01.txt
@@ -0,0 +1,156 @@
+
+PMID- 40751262
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20251128
+LR - 20251222
+IS - 1531-8257 (Electronic)
+IS - 0885-3185 (Print)
+IS - 0885-3185 (Linking)
+VI - 40
+IP - 11
+DP - 2025 Nov
+TI - A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy
+ with Incomplete Penetrance.
+PG - 2469-2475
+LID - 10.1002/mds.30326 [doi]
+AB - BACKGROUND: Progressive myoclonic epilepsy is a heterogeneous neurodegenerative
+ disorder characterized by early-onset myoclonus, epilepsy, generalized
+ tonic-clonic seizures, and progressive neurological deterioration. Recently, a
+ CGG repeat expansion and increased CSNK1E DNA methylation have been shown to be
+ associated with developmental and epileptic encephalopathies. OBJECTIVE: To
+ identify structural variants or repeat expansions associated with progressive
+ myoclonic epilepsy in an Azerbaijani family using long-read sequencing. METHODS:
+ Known genetic causes of progressive myoclonic epilepsy were ruled out through
+ quadro-exome sequencing in an individual exhibiting tonic-clonic seizures,
+ dementia, and cerebellar ataxia with an age at onset of 10 years. After ruling
+ out the presence of any other pathogenic mutation, long-read whole genome
+ sequencing was performed to investigate structural variants or repeat expansions
+ potentially associated with the disease. RESULTS: We identified a heterozygous
+ expanded (CGG)(n) repeat in exon 1 of CSNK1E in the proband (longest repeat
+ length, n = 745) and her unaffected sister (longest repeat length, n = 980). The
+ unaffected father was wild-type, while the unaffected mother had an
+ intermediate-sized repeat expansion (n = 131), which might have expanded to a
+ pathogenic length in the siblings upon transmission. The expanded allele
+ exhibited higher methylation levels than the wild-type, with globally elevated
+ methylation in both siblings compared with parental samples. CONCLUSIONS: We
+ suggest the association of the CSNK1E-CGG expansion with incomplete penetrance in
+ an Azerbaijani case with progressive myoclonic epilepsy, broadening its
+ phenotypic spectrum. Our findings support the utility of long-read sequencing and
+ methylation analysis as powerful approaches to identifying and characterizing
+ disease-associated expanded repeats. (c) 2025 The Author(s). Movement Disorders
+ published by Wiley Periodicals LLC on behalf of International Parkinson and
+ Movement Disorder Society.
+CI - (c) 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on
+ behalf of International Parkinson and Movement Disorder Society.
+FAU - Akcimen, Fulya
+AU - Akcimen F
+AD - Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on
+ Aging, National Institutes of Health, Bethesda, Maryland, USA.
+FAU - Alvarez Jerez, Pilar
+AU - Alvarez Jerez P
+AD - Center for Alzheimer's and Related Dementias, National Institute on Aging,
+ Bethesda, Maryland, USA.
+AD - Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology,
+ University College London, London, UK.
+FAU - Guliyeva, Ulviyya
+AU - Guliyeva U
+AD - MediClub Hospital, Baku, Azerbaijan.
+FAU - Lee, Jasmine
+AU - Lee J
+AD - Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology,
+ University College London, London, UK.
+FAU - Malik, Laksh
+AU - Malik L
+AD - Center for Alzheimer's and Related Dementias, National Institute on Aging,
+ Bethesda, Maryland, USA.
+FAU - Baker, Breeana
+AU - Baker B
+AD - Center for Alzheimer's and Related Dementias, National Institute on Aging,
+ Bethesda, Maryland, USA.
+FAU - Salayev, Kamran
+AU - Salayev K
+AD - MediClub Hospital, Baku, Azerbaijan.
+FAU - Guliyeva, Sughra
+AU - Guliyeva S
+AD - MediClub Hospital, Baku, Azerbaijan.
+FAU - Billingsley, Kimberley J
+AU - Billingsley KJ
+AUID- ORCID: 0000-0002-8003-4029
+AD - Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on
+ Aging, National Institutes of Health, Bethesda, Maryland, USA.
+AD - Center for Alzheimer's and Related Dementias, National Institute on Aging,
+ Bethesda, Maryland, USA.
+FAU - Houlden, Henry
+AU - Houlden H
+AUID- ORCID: 0000-0002-2866-7777
+AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology,
+ University College London, London, UK.
+FAU - Singleton, Andrew B
+AU - Singleton AB
+AD - Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on
+ Aging, National Institutes of Health, Bethesda, Maryland, USA.
+AD - Center for Alzheimer's and Related Dementias, National Institute on Aging,
+ Bethesda, Maryland, USA.
+FAU - Blauwendraat, Cornelis
+AU - Blauwendraat C
+AUID- ORCID: 0000-0001-9358-8111
+AD - Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on
+ Aging, National Institutes of Health, Bethesda, Maryland, USA.
+AD - Center for Alzheimer's and Related Dementias, National Institute on Aging,
+ Bethesda, Maryland, USA.
+FAU - Bandres-Ciga, Sara
+AU - Bandres-Ciga S
+AUID- ORCID: 0000-0003-0056-1361
+AD - Center for Alzheimer's and Related Dementias, National Institute on Aging,
+ Bethesda, Maryland, USA.
+FAU - Kaiyrzhanov, Rauan
+AU - Kaiyrzhanov R
+AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology,
+ University College London, London, UK.
+LA - eng
+GR - WT_/Wellcome Trust/United Kingdom
+GR - ZIA AG000534/ImNIH/Intramural NIH HHS/United States
+GR - ZIA AG000949/ImNIH/Intramural NIH HHS/United States
+GR - ZO1 AG000535/Intramural Research Program of the NIH/
+PT - Case Reports
+PT - Journal Article
+DEP - 20250801
+PL - United States
+TA - Mov Disord
+JT - Movement disorders : official journal of the Movement Disorder Society
+JID - 8610688
+SB - IM
+MH - Adult
+MH - Child
+MH - Female
+MH - Humans
+MH - Male
+MH - Middle Aged
+MH - *Myoclonic Epilepsies, Progressive/genetics
+MH - Pedigree
+MH - *Penetrance
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Young Adult
+PMC - PMC12661629
+OTO - NOTNLM
+OT - CSNK1E
+OT - incomplete penetrance
+OT - progressive myoclonic epilepsy
+OT - short tandem repeats
+EDAT- 2025/08/02 10:44
+MHDA- 2025/11/28 13:30
+PMCR- 2025/11/28
+CRDT- 2025/08/02 00:42
+PHST- 2025/07/01 00:00 [revised]
+PHST- 2024/12/19 00:00 [received]
+PHST- 2025/07/21 00:00 [accepted]
+PHST- 2025/11/28 13:30 [medline]
+PHST- 2025/08/02 10:44 [pubmed]
+PHST- 2025/08/02 00:42 [entrez]
+PHST- 2025/11/28 00:00 [pmc-release]
+AID - MDS30326 [pii]
+AID - 10.1002/mds.30326 [doi]
+PST - ppublish
+SO - Mov Disord. 2025 Nov;40(11):2469-2475. doi: 10.1002/mds.30326. Epub 2025 Aug 1.
+
diff --git a/data/literature/CSTB_batch_01.txt b/data/literature/CSTB_batch_01.txt
index 9039f11a..8ea68330 100644
--- a/data/literature/CSTB_batch_01.txt
+++ b/data/literature/CSTB_batch_01.txt
@@ -1,4 +1,182 @@
+PMID- 42094143
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260525
+LR - 20260525
+DP - 2026 May 1
+TI - Genome-wide detection and clinical prioritization of tandem repeat outliers using
+ long-read sequencing.
+LID - 2026.04.30.26352103 [pii]
+LID - 10.64898/2026.04.30.26352103 [doi]
+AB - BACKGROUND: Tandem repeat expansions (TREs) cause over 60 known neurological,
+ neuromuscular, and developmental disorders. Detecting these expansions
+ genome-wide is challenging due to their size, sequence complexity (including
+ interruptions), and population variation. While long-read sequencing is an
+ emerging technology that can fully resolve many TREs, no methods have been
+ described for genome-wide identification and prioritization of candidate
+ pathogenic TREs with this technology. METHODS: Using a newly developed pipeline
+ called TRoLR (Tandem Repeat outliers identified with Long Reads), we analyzed
+ haplotype-resolved long-read genome assemblies from 471 ancestrally diverse
+ individuals to define population distributions for over three million tandem
+ repeat loci, capturing clinically relevant interruptions. Outlier expansions were
+ identified relative to these distributions and prioritized by genomic location
+ and comparison to known pathogenic loci. The framework was applied to 47 cases
+ from the Undiagnosed Diseases Network. RESULTS: Population stratification of
+ repeat metrics was observed at 7% of loci, with highest variability among
+ individuals of African ancestry. Outlier analysis confirmed known pathogenic CNBP
+ and ATXN8OS expansions, detected carrier-range alleles at RFC1, CSTB, and FXN,
+ and revealed a novel CGG expansion in the 5' UTR of PCMTD2 exhibiting
+ hypermethylation and intergenerational instability. Genome-wide screening also
+ identified intronic pentanucleotide expansions at IQCB1 and MAP3K15 in controls
+ composed of motifs that have been associated with pathogenicity at other disease
+ loci. CONCLUSIONS: Quantifying the longest uninterrupted repeat segment in
+ long-read assemblies enables detection of clinically relevant repeat expansions
+ and loss of stabilizing interruptions. This approach enhances both diagnostic
+ confirmation and discovery of candidate pathogenic expansions, with implications
+ for clinical interpretation and research into complex repeat-mediated disorders.
+FAU - Gibson, Sophia B
+AU - Gibson SB
+AUID- ORCID: 0000-0001-9839-9045
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+FAU - Damaraju, Nikhita
+AU - Damaraju N
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+AD - Institute for Public Health Genetics, University of Washington School of Public
+ Health, Seattle, WA.
+FAU - Gustafson, J Gus
+AU - Gustafson JG
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+AD - Molecular and Cellular Biology Program, University of Washington, Seattle, WA.
+FAU - Balton, Elsa V
+AU - Balton EV
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Chanprasert, Sirisak
+AU - Chanprasert S
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Glass, Ian A
+AU - Glass IA
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+FAU - Horike-Pyne, Martha
+AU - Horike-Pyne M
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Kumar, Runjun D
+AU - Kumar RD
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+FAU - Leppig, Kathleen A
+AU - Leppig KA
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Lundberg, Chris
+AU - Lundberg C
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Ranchalis, Jane
+AU - Ranchalis J
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Rosenthal, Elisabeth A
+AU - Rosenthal EA
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Solomon, Andrew K
+AU - Solomon AK
+AD - Division of Rheumatology, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Stergachis, Andrew B
+AU - Stergachis AB
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Wener, Mark
+AU - Wener M
+AD - Division of Rheumatology, Department of Medicine, University of Washington,
+ Seattle, WA.
+CN - Undiagnosed Diseases Network
+FAU - Jarvik, Gail P
+AU - Jarvik GP
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Blue, Elizabeth E
+AU - Blue EE
+AD - Institute for Public Health Genetics, University of Washington School of Public
+ Health, Seattle, WA.
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+AD - Brotman Baty Institute for Precision Medicine, University of Washington, Seattle,
+ WA.
+FAU - Dipple, Katrina M
+AU - Dipple KM
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Center for Clinical and Translational Research, Seattle Children's Research
+ Institute, Seattle, WA.
+FAU - Dashnow, Harriet
+AU - Dashnow H
+AD - Department of Biomedical Informatics, University of Colorado Anschutz, Aurora,
+ CO.
+FAU - Starita, Lea M
+AU - Starita LM
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Brotman Baty Institute for Precision Medicine, University of Washington, Seattle,
+ WA.
+FAU - Miller, Danny E
+AU - Miller DE
+AUID- ORCID: 0000-0001-6096-8601
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+AD - Brotman Baty Institute for Precision Medicine, University of Washington, Seattle,
+ WA.
+LA - eng
+PT - Journal Article
+PT - Preprint
+DEP - 20260501
+PL - United States
+TA - medRxiv
+JT - medRxiv : the preprint server for health sciences
+JID - 101767986
+PMC - PMC13142565
+OTO - NOTNLM
+OT - clinical genomics
+OT - long-read sequencing
+OT - longest pure segment
+OT - outlier detection
+OT - population reference
+OT - repeat expansion disorders
+OT - tandem repeat expansion
+EDAT- 2026/05/07 06:36
+MHDA- 2026/05/07 06:37
+PMCR- 2026/05/05
+CRDT- 2026/05/07 05:10
+PHST- 2026/05/07 06:36 [pubmed]
+PHST- 2026/05/07 06:37 [medline]
+PHST- 2026/05/07 05:10 [entrez]
+PHST- 2026/05/05 00:00 [pmc-release]
+AID - 2026.04.30.26352103 [pii]
+AID - 10.64898/2026.04.30.26352103 [doi]
+PST - epublish
+SO - medRxiv [Preprint]. 2026 May 1:2026.04.30.26352103. doi:
+ 10.64898/2026.04.30.26352103.
+
PMID- 41268177
OWN - NLM
STAT- PubMed-not-MEDLINE
diff --git a/data/literature/DIP2B_batch_01.txt b/data/literature/DIP2B_batch_01.txt
index a1ac3e8b..7d8fa645 100644
--- a/data/literature/DIP2B_batch_01.txt
+++ b/data/literature/DIP2B_batch_01.txt
@@ -1,4 +1,97 @@
+PMID- 42205056
+OWN - NLM
+STAT- Publisher
+LR - 20260528
+IS - 1531-8257 (Electronic)
+IS - 0885-3185 (Linking)
+DP - 2026 May 28
+TI - No Evidence for an Association Between DIP2B Repeat Expansion and Neurological
+ Disease.
+LID - 10.1002/mds.70373 [doi]
+FAU - Ko, Chia-Ying
+AU - Ko CY
+AD - Institute of Medical Genetics and Applied Genomics, University of Tubingen,
+ Tubingen, Germany.
+AD - Department of Neurodegenerative Diseases, Center of Neurology and
+ Hertie-Institute for Clinical Brain Research, University of Tubingen, Tubingen,
+ Germany.
+FAU - Schutz, Leon
+AU - Schutz L
+AD - Institute of Medical Genetics and Applied Genomics, University of Tubingen,
+ Tubingen, Germany.
+FAU - Braun, Thomas
+AU - Braun T
+AD - Institute of Medical Genetics and Applied Genomics, University of Tubingen,
+ Tubingen, Germany.
+FAU - Buena-Atienza, Elena
+AU - Buena-Atienza E
+AD - Institute of Medical Genetics and Applied Genomics, University of Tubingen,
+ Tubingen, Germany.
+AD - NGS Competence Center Tubingen, University of Tubingen, Tubingen, Germany.
+FAU - Casadei, Nicolas
+AU - Casadei N
+AD - Institute of Medical Genetics and Applied Genomics, University of Tubingen,
+ Tubingen, Germany.
+AD - NGS Competence Center Tubingen, University of Tubingen, Tubingen, Germany.
+FAU - Beijer, Danique
+AU - Beijer D
+AD - Department of Neurodegenerative Diseases, Center of Neurology and
+ Hertie-Institute for Clinical Brain Research, University of Tubingen, Tubingen,
+ Germany.
+FAU - Schols, Ludger
+AU - Schols L
+AUID- ORCID: 0000-0001-7774-5025
+AD - Department of Neurodegenerative Diseases, Center of Neurology and
+ Hertie-Institute for Clinical Brain Research, University of Tubingen, Tubingen,
+ Germany.
+AD - Center for Rare Diseases, University Hospital Tubingen, Tubingen, Germany.
+AD - German Center for Neurodegenerative Diseases, Tubingen, Germany.
+FAU - Haack, Tobias B
+AU - Haack TB
+AD - Institute of Medical Genetics and Applied Genomics, University of Tubingen,
+ Tubingen, Germany.
+AD - Center for Rare Diseases, University Hospital Tubingen, Tubingen, Germany.
+FAU - Ossowski, Stephan
+AU - Ossowski S
+AD - Institute of Medical Genetics and Applied Genomics, University of Tubingen,
+ Tubingen, Germany.
+FAU - Hengel, Holger
+AU - Hengel H
+AUID- ORCID: 0000-0002-9773-2667
+AD - Department of Neurodegenerative Diseases, Center of Neurology and
+ Hertie-Institute for Clinical Brain Research, University of Tubingen, Tubingen,
+ Germany.
+LA - eng
+GR - HE 8803/1-1/Deutsche Forschungsgemeinschaft/
+GR - OS 647/1-1/Deutsche Forschungsgemeinschaft/
+PT - Letter
+DEP - 20260528
+PL - United States
+TA - Mov Disord
+JT - Movement disorders : official journal of the Movement Disorder Society
+JID - 8610688
+SB - IM
+OTO - NOTNLM
+OT - CGG
+OT - DIP2B
+OT - FRA12A
+OT - hypermethylation
+OT - long-read sequencing
+OT - repeat expansion
+EDAT- 2026/05/28 06:32
+MHDA- 2026/05/28 06:32
+CRDT- 2026/05/28 03:53
+PHST- 2026/04/30 00:00 [revised]
+PHST- 2026/02/23 00:00 [received]
+PHST- 2026/05/08 00:00 [accepted]
+PHST- 2026/05/28 06:32 [medline]
+PHST- 2026/05/28 06:32 [pubmed]
+PHST- 2026/05/28 03:53 [entrez]
+AID - 10.1002/mds.70373 [doi]
+PST - aheadofprint
+SO - Mov Disord. 2026 May 28. doi: 10.1002/mds.70373.
+
PMID- 39854091
OWN - NLM
STAT- MEDLINE
diff --git a/data/literature/DMD_batch_01.txt b/data/literature/DMD_batch_01.txt
index 4308e94c..ad674c9a 100644
--- a/data/literature/DMD_batch_01.txt
+++ b/data/literature/DMD_batch_01.txt
@@ -1,4 +1,87 @@
+PMID- 41906116
+OWN - NLM
+STAT- In-Process
+LR - 20260513
+IS - 1755-8794 (Electronic)
+IS - 1755-8794 (Linking)
+VI - 19
+IP - 1
+DP - 2026 Mar 29
+TI - Long-read sequencing identifies complex structural variants in DMD patients.
+LID - 10.1186/s12920-026-02352-3 [doi]
+LID - 74
+AB - BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked disorder caused by
+ mutations in the DMD gene. Reports of DMD resulting from complex structural
+ variants involving the DMD gene are rare, partly because such variants are often
+ undetectable by standard diagnostic approaches such as multiplex
+ ligation-dependent probe amplification (MLPA) and short-read whole-exome
+ sequencing (WES). CASE PRESENTATION: Using long-read sequencing, we identified
+ two unrelated pedigrees with complex structural rearrangements affecting the DMD
+ locus. Case 1 carried an inversion encompassing exon 2 of DMD. Case 2 harbored a
+ large-scale inversion of the DMD gene accompanied by two segmental duplications
+ arising as a direct consequence of the inversion; the entire complex allele was
+ maternally inherited. In both instances, simple tandem repeats were present at
+ most of the breakpoints. CONCLUSIONS: Our findings demonstrate that long-read
+ sequencing is a powerful tool for resolving complex structural variants. The
+ simple tandem repeats identified at the inversion breakpoints in DMD patients
+ enhance our understanding of the mutational mechanisms underlying structural
+ variation, which in turn aids in developing potential therapeutic strategies.
+FAU - Xie, Yi
+AU - Xie Y
+AD - Tongji Hospital of Tongji Medical College of Huazhong University of Science and
+ Technology, Wuhan, China.
+FAU - Bao, Lijun
+AU - Bao L
+AD - GrandOmics Biosciences, Beijing, China.
+FAU - Yu, Xuenan
+AU - Yu X
+AD - GrandOmics Biosciences, Beijing, China.
+FAU - Liu, Yan
+AU - Liu Y
+AD - Tongji Hospital of Tongji Medical College of Huazhong University of Science and
+ Technology, Wuhan, China. lyan3022@163.com.
+LA - eng
+GR - 2022CFB203/Natural Science Foundation of Hubei Province Project/
+PT - Journal Article
+DEP - 20260329
+PL - England
+TA - BMC Med Genomics
+JT - BMC medical genomics
+JID - 101319628
+SB - IM
+PMC - PMC13159284
+OTO - NOTNLM
+OT - DMD gene
+OT - Duchenne muscular dystrophy
+OT - Inversion
+OT - Long-read sequencing
+OT - Sanger sequencing
+COIS- Declarations. Ethics approval and consent to participate: This study was approved
+ by the Ethics Committee of Tongji Hospital, Tongji Medical College, Huazhong
+ University of Science and Technology. All study procedures were conducted in
+ accordance with the tenets of the Declaration of Helsinki. All the participants
+ and parents of the minor participants provided written informed consent to
+ participate in this study. Consent for publication: Written informed consent to
+ publish this case was obtained from all the participants and parents of the minor
+ participants, including case description and medical data. Competing interests:
+ The authors declare no competing interests.
+EDAT- 2026/03/30 00:29
+MHDA- 2026/03/30 00:29
+PMCR- 2026/03/29
+CRDT- 2026/03/29 23:14
+PHST- 2025/12/24 00:00 [received]
+PHST- 2026/03/25 00:00 [accepted]
+PHST- 2026/03/30 00:29 [pubmed]
+PHST- 2026/03/30 00:29 [medline]
+PHST- 2026/03/29 23:14 [entrez]
+PHST- 2026/03/29 00:00 [pmc-release]
+AID - 10.1186/s12920-026-02352-3 [pii]
+AID - 2352 [pii]
+AID - 10.1186/s12920-026-02352-3 [doi]
+PST - epublish
+SO - BMC Med Genomics. 2026 Mar 29;19(1):74. doi: 10.1186/s12920-026-02352-3.
+
PMID- 41691287
OWN - NLM
STAT- PubMed-not-MEDLINE
diff --git a/data/literature/DMPK_batch_01.txt b/data/literature/DMPK_batch_01.txt
index d0b03ea6..f663c481 100644
--- a/data/literature/DMPK_batch_01.txt
+++ b/data/literature/DMPK_batch_01.txt
@@ -1,4 +1,244 @@
+PMID- 42196324
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260527
+LR - 20260529
+IS - 1422-0067 (Electronic)
+IS - 1422-0067 (Linking)
+VI - 27
+IP - 10
+DP - 2026 May 13
+TI - Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant
+ Expansions in a Large Turkish Neurodegeneration Disease Cohort.
+LID - 10.3390/ijms27104345 [doi]
+LID - 4345
+AB - Short tandem repeat (STR) expansions are a major cause of neurodegenerative
+ disorders; however, their genetic and clinical heterogeneity complicates
+ diagnosis. STR detection remains limited in routine short-read next-generation
+ sequencing (NGS) workflows. We evaluated the diagnostic yield and clinical
+ utility of computational STR genotyping in a large Turkish neurodegenerative
+ disease cohort. ExpansionHunter was applied to NGS data from 3150 patients and
+ 146 controls, targeting 15 disease-associated STR loci. To improve genotyping of
+ poorly captured exonic regions in exome data, the default locus coverage
+ threshold was reduced from 10x to 3x. Candidate expansions were visually
+ inspected using REViewer and validated by conventional molecular methods.
+ Computational analysis detected 28 pathogenic and 160 intermediate expansions. Of
+ these, 23 were confirmed as pathogenic, and eight initially classified as
+ intermediate were reclassified as pathogenic after conventional validation,
+ resulting in 31 pathogenic cases across 28 families: HTT (n = 8), ATXN2 (n = 5),
+ ATXN1 (n = 4), DMPK (n = 3), PABPN1 (n = 3), TBP (n = 2), and single cases in AR,
+ ATN1, and CACNA1A. Lowering the coverage threshold markedly increased genotyping
+ rates at low-coverage loci in exome data, particularly in ATXN2. Genetic findings
+ were largely consistent with clinical pre-diagnosis and the additional diagnostic
+ yield was 0.95%. These findings support integrating STR analysis into routine
+ neurogenetic diagnostics.
+FAU - Khojakulov, Zakhiriddin
+AU - Khojakulov Z
+AUID- ORCID: 0000-0002-7771-8956
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Palvadeau, Robin J
+AU - Palvadeau RJ
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Kovancilar-Koc, Muge
+AU - Kovancilar-Koc M
+AUID- ORCID: 0009-0006-7125-1159
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Atay, Irmak
+AU - Atay I
+AUID- ORCID: 0009-0007-3284-7790
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Sahbaz, Irmak
+AU - Sahbaz I
+AUID- ORCID: 0000-0001-8816-9158
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Tekgul, Seyma
+AU - Tekgul S
+AUID- ORCID: 0000-0001-5223-5627
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Sahin, Ayca
+AU - Sahin A
+AUID- ORCID: 0000-0002-0948-6495
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Badakal, Esmer Zeynep Duru
+AU - Badakal EZD
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Gul-Demirkale, Tugce
+AU - Gul-Demirkale T
+AUID- ORCID: 0000-0002-1818-9839
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Ciftci, Vildan
+AU - Ciftci V
+AUID- ORCID: 0000-0002-4441-6062
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Bayraktar, Elif
+AU - Bayraktar E
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Tunca, Ceren
+AU - Tunca C
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Smolina, Natalia
+AU - Smolina N
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Akcimen, Fulya
+AU - Akcimen F
+AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
+ Health, Bethesda, MD 20892, USA.
+FAU - Basak, Ayse Nazli
+AU - Basak AN
+AUID- ORCID: 0000-0001-6977-2517
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+LA - eng
+GR - Suna and Inan Kirac Foundation/Suna and Inan Kirac Foundation/
+GR - Koc university/Koc University/
+PT - Journal Article
+DEP - 20260513
+PL - Switzerland
+TA - Int J Mol Sci
+JT - International journal of molecular sciences
+JID - 101092791
+SB - IM
+MH - Humans
+MH - *Microsatellite Repeats/genetics
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Turkey/epidemiology
+MH - High-Throughput Nucleotide Sequencing
+MH - Genotype
+MH - Female
+MH - *Genotyping Techniques/methods
+MH - Male
+MH - Cohort Studies
+MH - *DNA Repeat Expansion
+MH - Computational Biology/methods
+PMC - PMC13207311
+OTO - NOTNLM
+OT - ExpansionHunter
+OT - NGS
+OT - STR
+OT - computational genotyping
+OT - neurodegenerative diseases
+OT - short tandem repeats
+COIS- The authors declare no conflicts of interest. The contributions of the NIH
+ author(s) are considered Works of the United States Government. The findings and
+ conclusions presented in this paper are those of the author(s) and do not
+ necessarily reflect the views of the NIH or the U.S. Department of Health and
+ Human Services.
+EDAT- 2026/05/27 06:33
+MHDA- 2026/05/27 06:34
+PMCR- 2026/05/13
+CRDT- 2026/05/27 01:16
+PHST- 2026/03/05 00:00 [received]
+PHST- 2026/04/04 00:00 [revised]
+PHST- 2026/04/09 00:00 [accepted]
+PHST- 2026/05/27 06:34 [medline]
+PHST- 2026/05/27 06:33 [pubmed]
+PHST- 2026/05/27 01:16 [entrez]
+PHST- 2026/05/13 00:00 [pmc-release]
+AID - ijms27104345 [pii]
+AID - ijms-27-04345 [pii]
+AID - 10.3390/ijms27104345 [doi]
+PST - epublish
+SO - Int J Mol Sci. 2026 May 13;27(10):4345. doi: 10.3390/ijms27104345.
+
+PMID- 42133999
+OWN - NLM
+STAT- Publisher
+LR - 20260514
+IS - 1876-7753 (Electronic)
+IS - 1873-5061 (Linking)
+VI - 94
+DP - 2026 May 10
+TI - Generation of iPSC lines from myotonic dystrophy type 1 patients with varying CTG
+ repeat lengths.
+PG - 104013
+LID - S1873-5061(26)00109-1 [pii]
+LID - 10.1016/j.scr.2026.104013 [doi]
+AB - An expanded CTG trinucleotide repeat in the Dystrophia Myotonica Protein Kinase
+ (DMPK) gene underpins myotonic dystrophy type 1 (DM1), an autosomal dominant
+ neuromuscular disorder that affects almost every organ system, especially the
+ skeletal muscle, central nervous system and the heart. In this study, we describe
+ the generation of induced pluripotent stem cell (iPSC) lines from patient-derived
+ fibroblasts carrying varying expanded (CTG)(n) repeats in DMPK. These lines
+ provide a valuable resource of investigating how CTG repeat length correlates
+ with DM1-related cellular phenotypes in differentiated, disease-relevant cell
+ types, including muscle progenitor cells and neurons.
+CI - Copyright (c) 2026 The Authors. Published by Elsevier B.V. All rights reserved.
+FAU - Hoekman, Thomas D
+AU - Hoekman TD
+AD - Radboud University Medical Center, Radboud Institute for Medical Innovation,
+ Department of Medical BioSciences, 6525 GA Nijmegen, the Netherlands.
+FAU - Rahm, Lisa
+AU - Rahm L
+AD - Radboud University Medical Center, Radboud Institute for Medical Innovation,
+ Department of Medical BioSciences, 6525 GA Nijmegen, the Netherlands; Radboud
+ University Medical Center, Radboud Institute for Medical Innovation and Donders
+ lnstitute for Brain Cognition and Behaviour, Department of Human Genetics, 6500
+ HB Nijmegen, the Netherlands.
+FAU - Albert, Silvia
+AU - Albert S
+AD - Radboud University Medical Center, Radboud Institute for Medical Innovation and
+ Donders lnstitute for Brain Cognition and Behaviour, Department of Human
+ Genetics, 6500 HB Nijmegen, the Netherlands.
+FAU - Wansink, Derick G
+AU - Wansink DG
+AD - Radboud University Medical Center, Radboud Institute for Medical Innovation,
+ Department of Medical BioSciences, 6525 GA Nijmegen, the Netherlands.
+FAU - van Bokhoven, Hans
+AU - van Bokhoven H
+AD - Radboud University Medical Center, Radboud Institute for Medical Innovation and
+ Donders lnstitute for Brain Cognition and Behaviour, Department of Human
+ Genetics, 6500 HB Nijmegen, the Netherlands. Electronic address:
+ Hans.vanBokhoven@Radboudumc.nl.
+FAU - Raaijmakers, Renee H L
+AU - Raaijmakers RHL
+AD - Radboud University Medical Center, Radboud Institute for Medical Innovation,
+ Department of Medical BioSciences, 6525 GA Nijmegen, the Netherlands; Radboud
+ University Medical Center, Radboud Institute for Medical Innovation and Donders
+ lnstitute for Brain Cognition and Behaviour, Department of Human Genetics, 6500
+ HB Nijmegen, the Netherlands.
+LA - eng
+PT - Journal Article
+DEP - 20260510
+PL - England
+TA - Stem Cell Res
+JT - Stem cell research
+JID - 101316957
+SB - IM
+COIS- Declaration of competing interest The authors declare the following financial
+ interests/personal relationships which may be considered as potential competing
+ interests: Several authors of this publication are members of the Radboudumc
+ Center of Expertise for neuromuscular disorders (Radboud-NMD), Netherlands
+ Neuromuscular Center (NL-NMD) and the European Reference Network for rare
+ neuromuscular diseases (EURO-NMD). The authors declare no competing financial or
+ personal interests.
+EDAT- 2026/05/14 18:36
+MHDA- 2026/05/14 18:36
+CRDT- 2026/05/14 17:59
+PHST- 2026/03/25 00:00 [received]
+PHST- 2026/04/29 00:00 [revised]
+PHST- 2026/05/09 00:00 [accepted]
+PHST- 2026/05/14 18:36 [medline]
+PHST- 2026/05/14 18:36 [pubmed]
+PHST- 2026/05/14 17:59 [entrez]
+AID - S1873-5061(26)00109-1 [pii]
+AID - 10.1016/j.scr.2026.104013 [doi]
+PST - aheadofprint
+SO - Stem Cell Res. 2026 May 10;94:104013. doi: 10.1016/j.scr.2026.104013.
+
PMID- 41996006
OWN - NLM
STAT- Publisher
@@ -108,13 +348,18 @@ SO - Mol Diagn Ther. 2026 Apr 17. doi: 10.1007/s40291-026-00848-3.
PMID- 41974889
OWN - NLM
-STAT- Publisher
-LR - 20260413
+STAT- MEDLINE
+DCOM- 20260505
+LR - 20260508
IS - 2092-6413 (Electronic)
+IS - 1226-3613 (Print)
IS - 1226-3613 (Linking)
-DP - 2026 Apr 13
+VI - 58
+IP - 4
+DP - 2026 Apr
TI - Targeted long-read sequencing for high-resolution repeat profiling in myotonic
dystrophy type 1.
+PG - 1203-1215
LID - 10.1038/s12276-026-01683-6 [doi]
AB - Tandem repeat expansion disorders can be difficult to diagnose when expansions
exceed 200 repeats, as standard methods (for example, Southern blot and modified
@@ -154,7 +399,6 @@ AD - School of Biological Sciences, Seoul National University, Seoul, Republic
Korea. hyeshik@snu.ac.kr.
LA - eng
GR - RS-2024-00352005/National Research Foundation of Korea (NRF)/
-GR - RS-2024-00352005/National Research Foundation of Korea (NRF)/
GR - 2021R1F1A1046537/National Research Foundation of Korea (NRF)/
PT - Journal Article
DEP - 20260413
@@ -162,34 +406,55 @@ PL - United States
TA - Exp Mol Med
JT - Experimental & molecular medicine
JID - 9607880
+RN - EC 2.7.11.1 (Myotonin-Protein Kinase)
+RN - 0 (DMPK protein, human)
SB - IM
+MH - *Myotonic Dystrophy/genetics/diagnosis
+MH - Humans
+MH - DNA Methylation
+MH - *High-Throughput Nucleotide Sequencing/methods
+MH - Nanopore Sequencing/methods
+MH - Myotonin-Protein Kinase/genetics
+MH - Algorithms
+MH - Sequence Analysis, DNA/methods
+MH - Cell Line
+PMC - PMC13144457
COIS- Competing interests: Y.H., J.-H.J., and H.C. have filed patents on 'a method for
providing information for diagnosing repeat expansion disorder diseases using the
CRISPR-Cas9 system and nanopore sequencing analysis' and 'a method for providing
information for the diagnosis of ataxia' (Applications 1020230147875 and
1020230197358).
EDAT- 2026/04/14 00:31
-MHDA- 2026/04/14 00:31
+MHDA- 2026/05/06 00:32
+PMCR- 2026/04/13
CRDT- 2026/04/13 23:27
PHST- 2025/05/08 00:00 [received]
PHST- 2026/01/13 00:00 [accepted]
PHST- 2025/12/11 00:00 [revised]
-PHST- 2026/04/14 00:31 [medline]
+PHST- 2026/05/06 00:32 [medline]
PHST- 2026/04/14 00:31 [pubmed]
PHST- 2026/04/13 23:27 [entrez]
+PHST- 2026/04/13 00:00 [pmc-release]
AID - 10.1038/s12276-026-01683-6 [pii]
+AID - 1683 [pii]
AID - 10.1038/s12276-026-01683-6 [doi]
-PST - aheadofprint
-SO - Exp Mol Med. 2026 Apr 13. doi: 10.1038/s12276-026-01683-6.
+PST - ppublish
+SO - Exp Mol Med. 2026 Apr;58(4):1203-1215. doi: 10.1038/s12276-026-01683-6. Epub 2026
+ Apr 13.
PMID- 41951733
OWN - NLM
-STAT- Publisher
-LR - 20260421
+STAT- MEDLINE
+DCOM- 20260521
+LR - 20260523
IS - 1476-4687 (Electronic)
+IS - 0028-0836 (Print)
IS - 0028-0836 (Linking)
-DP - 2026 Apr 8
+VI - 653
+IP - 8115
+DP - 2026 May
TI - Population-scale repeat expansions elucidate disease risk and brain atrophy.
+PG - 796-808
LID - 10.1038/s41586-026-10345-6 [doi]
AB - Pathogenic expansions of short tandem repeats (STRs) cause over 70 neurological
diseases(1-3). Here we performed a population-scale survey of pathogenic repeat
@@ -325,7 +590,32 @@ PL - England
TA - Nature
JT - Nature
JID - 0410462
+RN - 0 (C9orf72 Protein)
+RN - 0 (C9orf72 protein, human)
+RN - 0 (DMPK protein, human)
+RN - 0 (HTT protein, human)
+RN - 0 (Huntingtin Protein)
+RN - 0 (neurofilament protein L)
+RN - 0 (Neurofilament Proteins)
+RN - EC 2.7.11.1 (Myotonin-Protein Kinase)
SB - IM
+MH - Female
+MH - Humans
+MH - Male
+MH - Middle Aged
+MH - Atrophy/genetics
+MH - *Brain/pathology
+MH - C9orf72 Protein/genetics
+MH - Cerebellum/pathology
+MH - *DNA Repeat Expansion
+MH - *Genetic Predisposition to Disease/genetics
+MH - Huntingtin Protein/genetics
+MH - Huntington Disease/genetics/pathology
+MH - *Microsatellite Repeats
+MH - Neurofilament Proteins/metabolism
+MH - Organ Size
+MH - Myotonin-Protein Kinase
+PMC - PMC13190288
COIS- Competing interests: V.K.P., J.H.S., J.H., S.O., V.R., X.B., M.D.K., K.L., X.Z.,
S.Y., L.Z., M.G.L., J.R.-V, F.G., S.W., S.S., F.S., E.A.S., Y.H., M.A., S.C.,
W.S., J.O., J.M., J.R., G.R.A., L.L., A.B., G.C. and S.G. are current employees
@@ -849,17 +1139,21 @@ IR - Pagan M
FIR - Siceron, Sunilbe
IR - Siceron S
EDAT- 2026/04/09 00:34
-MHDA- 2026/04/09 00:34
+MHDA- 2026/05/21 06:32
+PMCR- 2026/04/08
CRDT- 2026/04/08 23:21
PHST- 2025/05/16 00:00 [received]
PHST- 2026/03/02 00:00 [accepted]
+PHST- 2026/05/21 06:32 [medline]
PHST- 2026/04/09 00:34 [pubmed]
-PHST- 2026/04/09 00:34 [medline]
PHST- 2026/04/08 23:21 [entrez]
+PHST- 2026/04/08 00:00 [pmc-release]
AID - 10.1038/s41586-026-10345-6 [pii]
+AID - 10345 [pii]
AID - 10.1038/s41586-026-10345-6 [doi]
-PST - aheadofprint
-SO - Nature. 2026 Apr 8. doi: 10.1038/s41586-026-10345-6.
+PST - ppublish
+SO - Nature. 2026 May;653(8115):796-808. doi: 10.1038/s41586-026-10345-6. Epub 2026
+ Apr 8.
PMID- 41946260
OWN - NLM
@@ -949,25 +1243,28 @@ SO - Stem Cell Res. 2026 Apr 1;94:103977. doi: 10.1016/j.scr.2026.103977.
PMID- 41855125
OWN - NLM
-STAT- Publisher
-LR - 20260319
+STAT- MEDLINE
+DCOM- 20260508
+LR - 20260522
IS - 2379-3708 (Electronic)
IS - 2379-3708 (Linking)
-DP - 2026 Mar 19
+VI - 11
+IP - 9
+DP - 2026 May 8
TI - Progressive cardiac phenotypes and reduced reversibility from long-term CUGexp
RNA expression in a DM1 mouse model.
LID - e204278 [pii]
LID - 10.1172/jci.insight.204278 [doi]
-AB - Myotonic Dystrophy Type 1 (DM1) is caused by an expanded CTG repeat in the DMPK
+AB - Myotonic dystrophy type 1 (DM1) is caused by an expanded CTG repeat in the DMPK
gene, resulting in mutant transcripts that form expanded CUG (CUGexp) RNA foci
- and sequester muscleblind-like (MBNL) RNA-binding proteins. DM1 is multisystemic
+ and sequester muscleblind-like (MBNL) RNA-binding proteins. DM1 is multisystemic,
with progressive worsening of disease manifestations in affected tissues. Disease
progression is attributed to somatic expansion of the CTG repeats with age,
resulting in production of CUGexp RNA with enhanced intrinsic toxicity due to
increased MBNL sequestration. To determine the degree to which cardiac disease
progression can occur independently of repeat expansion, we used a transgenic DM1
mouse model with inducible heart-specific expression of a stable, interrupted
- 960-CUG repeat RNA. Sustained CUGexp RNA expression caused progressive cardiac
+ 960-CUG-repeat RNA. Sustained CUGexp RNA expression caused progressive cardiac
enlargement, contractile dysfunction, conduction delay, myocardial fibrosis, and
reduced survival, while MBNL-dependent splicing defects remained static,
consistent with the stable repeat length. We also determined the degree of
@@ -979,28 +1276,45 @@ AB - Myotonic Dystrophy Type 1 (DM1) is caused by an expanded CTG repeat in the
progression in DM1 in addition to somatic expansion.
FAU - Hu, Rong-Chi
AU - Hu RC
-AD - Department of Pathology & Immunology, Baylor College of Medicine, Houston, United
- States of America.
+AD - Department of Pathology & Immunology.
FAU - Tabary, Mohammadreza
AU - Tabary M
-AD - Department of Medicine (Cardiology section), Baylor College of Medicine, Houston,
- United States of America.
+AD - Department of Medicine (Cardiology Section).
FAU - Wehrens, Xander Ht
AU - Wehrens XH
-AD - Department of Medicine (Cardiology section), Baylor College of Medicine, Houston,
- United States of America.
+AD - Department of Medicine (Cardiology Section).
+AD - Department of Integrative Physiology, and.
FAU - Cooper, Thomas A
AU - Cooper TA
-AD - Department of Pathology & Immunology, Baylor College of Medicine, Houston, United
- States of America.
+AD - Department of Pathology & Immunology.
+AD - Department of Integrative Physiology, and.
+AD - Department of Molecular & Cellular Biology, Baylor College of Medicine, Houston,
+ Texas, USA.
LA - eng
+GR - R01 AR082852/AR/NIAMS NIH HHS/United States
+GR - R01 HL147020/HL/NHLBI NIH HHS/United States
PT - Journal Article
DEP - 20260319
PL - United States
TA - JCI Insight
JT - JCI insight
JID - 101676073
+RN - 0 (RNA-Binding Proteins)
+RN - EC 2.7.11.1 (Myotonin-Protein Kinase)
+RN - 0 (DMPK protein, mouse)
SB - IM
+MH - Animals
+MH - *Myotonic Dystrophy/genetics/pathology/metabolism/physiopathology
+MH - Mice
+MH - Mice, Transgenic
+MH - Disease Models, Animal
+MH - RNA-Binding Proteins/metabolism/genetics
+MH - Disease Progression
+MH - Myotonin-Protein Kinase/genetics
+MH - Trinucleotide Repeat Expansion
+MH - Phenotype
+MH - Myocardium/pathology/metabolism
+MH - Humans
OTO - NOTNLM
OT - Cardiology
OT - Cardiovascular disease
@@ -1008,21 +1322,24 @@ OT - Genetic diseases
OT - Genetics
OT - Molecular biology
EDAT- 2026/03/19 21:44
-MHDA- 2026/03/19 21:44
+MHDA- 2026/05/08 12:37
CRDT- 2026/03/19 13:23
-PHST- 2026/03/19 21:44 [medline]
+PHST- 2026/01/06 00:00 [received]
+PHST- 2026/03/10 00:00 [accepted]
+PHST- 2026/05/08 12:37 [medline]
PHST- 2026/03/19 21:44 [pubmed]
PHST- 2026/03/19 13:23 [entrez]
AID - 204278 [pii]
AID - 10.1172/jci.insight.204278 [doi]
-PST - aheadofprint
-SO - JCI Insight. 2026 Mar 19:e204278. doi: 10.1172/jci.insight.204278.
+PST - epublish
+SO - JCI Insight. 2026 Mar 19;11(9):e204278. doi: 10.1172/jci.insight.204278.
+ eCollection 2026 May 8.
PMID- 41848171
OWN - NLM
STAT- MEDLINE
DCOM- 20260318
-LR - 20260321
+LR - 20260524
IS - 1365-2990 (Electronic)
IS - 0305-1846 (Print)
IS - 0305-1846 (Linking)
@@ -1096,6 +1413,7 @@ GR - W.OR18-06/Prinses Beatrix Spierfonds/
GR - W.OR23-03/Prinses Beatrix Spierfonds/
GR - 24975/AFM-Telethon/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
PL - England
TA - Neuropathol Appl Neurobiol
JT - Neuropathology and applied neurobiology
@@ -1443,7 +1761,7 @@ PMID- 41722569
OWN - NLM
STAT- MEDLINE
DCOM- 20260308
-LR - 20260419
+LR - 20260527
IS - 1537-6605 (Electronic)
IS - 0002-9297 (Print)
IS - 0002-9297 (Linking)
@@ -1588,6 +1906,7 @@ AD - Human Translational Genomics Group, University Institute for Biotechnology
Spain. Electronic address: ruben.artero@uv.es.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20260220
PL - United States
TA - Am J Hum Genet
@@ -2318,7 +2637,7 @@ PMID- 41379996
OWN - NLM
STAT- MEDLINE
DCOM- 20251211
-LR - 20260127
+LR - 20260522
IS - 1091-6490 (Electronic)
IS - 0027-8424 (Print)
IS - 0027-8424 (Linking)
@@ -2401,14 +2720,17 @@ AD - Department of Integrative Physiology, Baylor College of Medicine, Houston,
AD - Department of Molecular and Cellular Biology, Baylor College of Medicine,
Houston, TX 77030.
LA - eng
-GR - 1F31DK132935/HHS | NIH | National Institute of Diabetes and Digestive and Kidney
- Diseases (NIDDK)/
GR - R01AR082852/HHS | NIH | National Institute of Arthritis and Musculoskeletal and
Skin Diseases (NIAMS)/
+GR - R01 AR082852/AR/NIAMS NIH HHS/United States
GR - R01HL147020/HHS | NIH | National Heart, Lung, and Blood Institute (NHLBI)/
-GR - R01DK133301/HHS | NIH | National Institute of Diabetes and Digestive and Kidney
+GR - 1F31DK132935/HHS | NIH | National Institute of Diabetes and Digestive and Kidney
Diseases (NIDDK)/
GR - R01GM147365/HHS | NIH | National Institute of General Medical Sciences (NIGMS)/
+GR - R01 HL147020/HL/NHLBI NIH HHS/United States
+GR - R01DK133301/HHS | NIH | National Institute of Diabetes and Digestive and Kidney
+ Diseases (NIDDK)/
+GR - F31 DK132935/DK/NIDDK NIH HHS/United States
PT - Journal Article
DEP - 20251211
PL - United States
@@ -3431,7 +3753,7 @@ PMID- 40879030
OWN - NLM
STAT- MEDLINE
DCOM- 20260305
-LR - 20260306
+LR - 20260528
IS - 1531-8249 (Electronic)
IS - 0364-5134 (Print)
IS - 0364-5134 (Linking)
@@ -3488,6 +3810,7 @@ LA - eng
GR - R25 NS065745/NS/NINDS NIH HHS/United States
GR - UL1 TR001878/TR/NCATS NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
DEP - 20250829
PL - United States
TA - Ann Neurol
@@ -3955,7 +4278,7 @@ PMID- 40417743
OWN - NLM
STAT- MEDLINE
DCOM- 20250803
-LR - 20260416
+LR - 20260523
IS - 1530-0366 (Electronic)
IS - 1098-3600 (Print)
IS - 1098-3600 (Linking)
@@ -4080,10 +4403,12 @@ AD - Dr John T. Macdonald Foundation Department of Human Genetics and John P. H
Institute for Human Genetics, University of Miami Miller School of Medicine,
Miami, FL. Electronic address: szuchner@med.miami.edu.
LA - eng
-GR - K99 HG012796/HG/NHGRI NIH HHS/United States
GR - R00 HG012796/HG/NHGRI NIH HHS/United States
-GR - RC2 TR004391/TR/NCATS NIH HHS/United States
GR - U01 NS134353/NS/NINDS NIH HHS/United States
+GR - U01 HG007672/HG/NHGRI NIH HHS/United States
+GR - RC2 TR004391/TR/NCATS NIH HHS/United States
+GR - K99 HG012796/HG/NHGRI NIH HHS/United States
+GR - U01 NS134350/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20250522
PL - United States
@@ -4753,10 +5078,10 @@ CRDT- 2025/05/26 06:18
PHST- 2024/08/07 00:00 [received]
PHST- 2025/05/15 00:00 [revised]
PHST- 2025/05/16 00:00 [accepted]
-PHST- 2026/05/22 00:00 [pmc-release]
PHST- 2025/08/03 12:31 [medline]
PHST- 2025/05/26 12:37 [pubmed]
PHST- 2025/05/26 06:18 [entrez]
+PHST- 2026/05/22 00:00 [pmc-release]
AID - S1098-3600(25)00109-1 [pii]
AID - 10.1016/j.gim.2025.101462 [doi]
PST - ppublish
@@ -5065,7 +5390,7 @@ PMID- 40113266
OWN - NLM
STAT- MEDLINE
DCOM- 20250414
-LR - 20250504
+LR - 20260507
IS - 1549-5469 (Electronic)
IS - 1088-9051 (Print)
IS - 1088-9051 (Linking)
@@ -5202,7 +5527,10 @@ AD - Department of Internal Medicine, Radboud Expertise Center for Immunodefici
and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud
University Medical Center, 6525GA Nijmegen, the Netherlands.
LA - eng
+GR - 779257/ERC_/European Research Council/International
+GR - 101156595/ERC_/European Research Council/International
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20250414
PL - United States
TA - Genome Res
@@ -5532,7 +5860,7 @@ PMID- 39932794
OWN - NLM
STAT- MEDLINE
DCOM- 20250507
-LR - 20260307
+LR - 20260506
IS - 1558-8238 (Electronic)
IS - 0021-9738 (Print)
IS - 0021-9738 (Linking)
@@ -5602,11 +5930,12 @@ GR - R01 HL132840/HL/NHLBI NIH HHS/United States
GR - S10 OD023469/OD/NIH HHS/United States
GR - S10 OD032380/OD/NIH HHS/United States
GR - R01 AR082852/AR/NIAMS NIH HHS/United States
-GR - U42 OD026645/OD/NIH HHS/United States
GR - R01 DK114356/DK/NIDDK NIH HHS/United States
GR - R01 AR060733/AR/NIAMS NIH HHS/United States
GR - P30 CA125123/CA/NCI NIH HHS/United States
GR - UM1 HG006348/HG/NHGRI NIH HHS/United States
+GR - R21 AR081472/AR/NIAMS NIH HHS/United States
+GR - U42 OD026645/OD/NIH HHS/United States
GR - R01 HL147020/HL/NHLBI NIH HHS/United States
GR - F32 AR083267/AR/NIAMS NIH HHS/United States
PT - Journal Article
@@ -7254,7 +7583,7 @@ PMID- 39126705
OWN - NLM
STAT- MEDLINE
DCOM- 20241007
-LR - 20250813
+LR - 20260506
IS - 1460-2083 (Electronic)
IS - 0964-6906 (Print)
IS - 0964-6906 (Linking)
@@ -7318,6 +7647,7 @@ GR - P30CA125123/NH/NIH HHS/United States
GR - R01HL147020/NH/NIH HHS/United States
GR - S10 OD032380/OD/NIH HHS/United States
GR - R01 AR082852/AR/NIAMS NIH HHS/United States
+GR - R21 AR081472/AR/NIAMS NIH HHS/United States
GR - Myotonic Dystrophy Foundation/
GR - R01 DK114356/DK/NIDDK NIH HHS/United States
GR - P30 CA125123/CA/NCI NIH HHS/United States
@@ -9702,7 +10032,7 @@ PMID- 36352383
OWN - NLM
STAT- MEDLINE
DCOM- 20221115
-LR - 20221116
+LR - 20260518
IS - 1741-7015 (Electronic)
IS - 1741-7015 (Linking)
VI - 20
@@ -11288,7 +11618,7 @@ PMID- 35182509
OWN - NLM
STAT- MEDLINE
DCOM- 20220321
-LR - 20260127
+LR - 20260518
IS - 1474-4465 (Electronic)
IS - 1474-4422 (Print)
IS - 1474-4422 (Linking)
@@ -12418,7 +12748,7 @@ PMID- 34372915
OWN - NLM
STAT- MEDLINE
DCOM- 20220216
-LR - 20220216
+LR - 20260518
IS - 1756-994X (Electronic)
IS - 1756-994X (Linking)
VI - 13
@@ -16279,7 +16609,7 @@ PMID- 31395669
OWN - NLM
STAT- MEDLINE
DCOM- 20200130
-LR - 20250908
+LR - 20260518
IS - 1526-632X (Electronic)
IS - 0028-3878 (Print)
IS - 0028-3878 (Linking)
@@ -25036,6 +25366,7 @@ PST - ppublish
SO - Clin Genet. 2011 Dec;80(6):574-80. doi: 10.1111/j.1399-0004.2010.01616.x. Epub
2011 Jan 19.
+
PMID- 21103235
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -25159,7 +25490,6 @@ PST - ppublish
SO - J Clin Neurosci. 2010 Dec;17(12):1520-2. doi: 10.1016/j.jocn.2010.03.047. Epub
2010 Aug 30.
-
PMID- 20635151
OWN - NLM
STAT- MEDLINE
diff --git a/data/literature/FGF14_batch_01.txt b/data/literature/FGF14_batch_01.txt
index 84244edf..f79047f5 100644
--- a/data/literature/FGF14_batch_01.txt
+++ b/data/literature/FGF14_batch_01.txt
@@ -1,4 +1,651 @@
+PMID- 42204984
+OWN - NLM
+STAT- Publisher
+LR - 20260528
+IS - 1399-0004 (Electronic)
+IS - 0009-9163 (Linking)
+DP - 2026 May 28
+TI - GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia.
+LID - 10.1111/cge.70184 [doi]
+AB - GAA-FGF14 ataxia (spinocerebellar ataxia 27B, SCA27B), identified in 2023, is a
+ major cause of adult-onset autosomal dominant cerebellar ataxia (ADCA). In this
+ study, we assessed the frequency of GAA-FGF14 ataxia in a predominantly sporadic
+ German cohort of 107 genetically unresolved index patients using long-range PCR
+ and nanopore sequencing. Somatic mosaicism of GAA repeat length was assessed
+ using a custom bioinformatics pipeline based on a modified cyclic Smith-Waterman
+ algorithm. This approach provided streamlined detection and enabled precise
+ genotyping. Among sporadic cases, 10% had a pathogenic and 6% an intermediate
+ repeat expansion. Across the entire cohort, 13% carried a pathogenic and 5% an
+ intermediate repeat expansion. Diagnostic yield varied substantially by clinical
+ presentation: 50% in cases with typical GAA-FGF14-ataxia features, 13% in
+ patients with compatible but less characteristic features and 5% in atypical
+ presentations. In conclusion, this study further corroborates existing evidence
+ that GAA-FGF14 ataxia is a frequent cause of both sporadic and familial
+ cerebellar ataxia. Given its high diagnostic yield and the limited detectability
+ by standard short-read genome sequencing, targeted testing should be more widely
+ implemented.
+CI - (c) 2026 The Author(s). Clinical Genetics published by John Wiley & Sons Ltd.
+FAU - Kraus, Eva-Maria
+AU - Kraus EM
+AUID- ORCID: 0000-0002-6152-8971
+AD - Institute of Human Genetics, University of Leipzig Medical Center, Leipzig,
+ Germany.
+FAU - Lenz, Johannes
+AU - Lenz J
+AD - Institute of Human Genetics, University of Leipzig Medical Center, Leipzig,
+ Germany.
+FAU - Ploettner, Pauline
+AU - Ploettner P
+AD - Department of Neurology, University of Leipzig Medical Center, Leipzig, Germany.
+FAU - Duffek, Patricia
+AU - Duffek P
+AD - Institute of Human Genetics, University of Leipzig Medical Center, Leipzig,
+ Germany.
+FAU - Rumpf, Jost-Julian
+AU - Rumpf JJ
+AUID- ORCID: 0000-0002-7357-713X
+AD - Department of Neurology, University of Leipzig Medical Center, Leipzig, Germany.
+FAU - Jamra, Rami Abou
+AU - Jamra RA
+AD - Institute of Human Genetics, University of Leipzig Medical Center, Leipzig,
+ Germany.
+FAU - Wiedenhoeft, John
+AU - Wiedenhoeft J
+AD - Institute of Human Genetics, University of Leipzig Medical Center, Leipzig,
+ Germany.
+FAU - Popp, Denny
+AU - Popp D
+AD - Institute of Human Genetics, University of Leipzig Medical Center, Leipzig,
+ Germany.
+LA - eng
+PT - Journal Article
+DEP - 20260528
+PL - Denmark
+TA - Clin Genet
+JT - Clinical genetics
+JID - 0253664
+SB - IM
+OTO - NOTNLM
+OT - GAA-FGF14-ataxia
+OT - SCA27B
+OT - ataxia
+OT - nanopore sequencing
+OT - repeat expansion disorders
+OT - spinocerebellar ataxia 27B
+EDAT- 2026/05/28 06:32
+MHDA- 2026/05/28 06:32
+CRDT- 2026/05/28 03:23
+PHST- 2026/05/06 00:00 [revised]
+PHST- 2026/01/07 00:00 [received]
+PHST- 2026/05/08 00:00 [accepted]
+PHST- 2026/05/28 06:32 [medline]
+PHST- 2026/05/28 06:32 [pubmed]
+PHST- 2026/05/28 03:23 [entrez]
+AID - 10.1111/cge.70184 [doi]
+PST - aheadofprint
+SO - Clin Genet. 2026 May 28. doi: 10.1111/cge.70184.
+
+PMID- 42178418
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260524
+LR - 20260527
+IS - 1432-1459 (Electronic)
+IS - 0340-5354 (Print)
+IS - 0340-5354 (Linking)
+VI - 273
+IP - 6
+DP - 2026 May 25
+TI - Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy
+ syndromes: insights from repeat expansion carriers, including a case of
+ co-occurrence with RFC1-related CANVAS.
+LID - 10.1007/s00415-026-13867-1 [doi]
+LID - 339
+AB - OBJECTIVES: Intronic FGF14 GAA repeat expansions cause spinocerebellar ataxia 27B
+ (SCA27B) / GAA-FGF14 disease. Bilateral vestibulopathy (BVP) has been reported as
+ a recurrent feature of this disease. Here, we aimed to determine whether
+ GAA-FGF14 expansions represent a common cause of primary BVP syndromes. METHODS:
+ FGF14 genotyping, and in-depth neurological, vestibular and disease evolution
+ phenotyping of 116 consecutive patients meeting the diagnostic criteria for BVP,
+ including 92 with idiopathic BVP, 10 with biallelic RFC1 expansions, and 14 with
+ a secondary cause. RESULTS: Two patients in the idiopathic BVP group (2/92, 2.2%;
+ 430 and 349 GAA repeats) and one in the RFC1-positive BVP group (1/10, 10%; 255
+ GAA repeats) carried an FGF14 (GAA)(>/=250) expansion. No expansions were detected
+ in the secondary BVP group. In the idiopathic BVP group, the GAA-FGF14-positive
+ patients had mild-to-moderate BVP and a phenotype that aligned with SCA27B. The
+ patient carrying both FGF14 and biallelic RFC1 expansions developed cerebellar
+ dysfunction, downbeat nystagmus, sensory neuropathy, and BVP at age 70. Downbeat
+ nystagmus was observed in all GAA-FGF14 expansion carriers (3/3, 100%) compared
+ to only a minority of patients with idiopathic BVP (7/90, 8%; Fisher's exact
+ test, p = 0.0009). DISCUSSION: The phenotypic spectrum of GAA-FGF14 disease can
+ include a relevant bilateral vestibular deficit (BVP); however, FGF14 GAA
+ expansions are overall a rare cause of primary BVP syndromes. Given the possible
+ co-occurrence of GAA-FGF14 and RFC1 expansions, dual diagnosis should be
+ considered in patients presenting with unusual or broader phenotypes.
+CI - (c) 2026. The Author(s).
+FAU - Pellerin, David
+AU - Pellerin D
+AUID- ORCID: 0000-0002-5807-995X
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Hospital and
+ Institute, McGill University, Montreal, QC, Canada. dxp2561@miami.edu.
+AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and
+ The National Hospital for Neurology and Neurosurgery, University College London,
+ London, UK. dxp2561@miami.edu.
+AD - Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman
+ Institute for Human Genomics, University of Miami Miller School of Medicine,
+ Miami, FL, USA. dxp2561@miami.edu.
+FAU - Heindl, Felix
+AU - Heindl F
+AD - Department of Neurology and German Center for Vertigo and Balance Disorders, LMU
+ University Hospital, LMU Munich, Germany.
+FAU - Traschutz, Andreas
+AU - Traschutz A
+AD - Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute
+ for Clinical Brain Research and Center of Neurology, University of Tubingen,
+ Tubingen, Germany.
+AD - German Center for Neurodegenerative Diseases (DZNE), Tubingen, Germany.
+AD - Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain
+ Research and Center of Neurology, University of Tubingen, Tubingen, Germany.
+FAU - Iruzubieta, Pablo
+AU - Iruzubieta P
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Hospital and
+ Institute, McGill University, Montreal, QC, Canada.
+AD - Department of Neurosciences, Biogipuzkoa Health Research Institute, Donostia-San
+ Sebastian, Spain.
+AD - CIBERNED Centro de Investigacion Biomedica en Red en Enfermedades
+ Neurodegenerativas, Instituto de Salud Carlos III (CIBER-CIBERNED-ISCIII), 28029,
+ Madrid, Spain.
+FAU - Dicaire, Marie-Josee
+AU - Dicaire MJ
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Hospital and
+ Institute, McGill University, Montreal, QC, Canada.
+FAU - Zuchner, Stephan
+AU - Zuchner S
+AD - Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman
+ Institute for Human Genomics, University of Miami Miller School of Medicine,
+ Miami, FL, USA.
+FAU - Hartmann, Annette M
+AU - Hartmann AM
+AD - Department of Psychiatry and Psychotherapy, Comprehensive Center for Clinical
+ Neurosciences and Mental Health (C3NMH), Medical University of Vienna, Vienna,
+ Austria.
+FAU - Rujescu, Dan
+AU - Rujescu D
+AD - Department of Psychiatry and Psychotherapy, Comprehensive Center for Clinical
+ Neurosciences and Mental Health (C3NMH), Medical University of Vienna, Vienna,
+ Austria.
+FAU - Houlden, Henry
+AU - Houlden H
+AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and
+ The National Hospital for Neurology and Neurosurgery, University College London,
+ London, UK.
+FAU - Brais, Bernard
+AU - Brais B
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Hospital and
+ Institute, McGill University, Montreal, QC, Canada.
+AD - Department of Human Genetics, McGill University, Montreal, QC, Canada.
+FAU - Strupp, Michael
+AU - Strupp M
+AD - Department of Neurology and German Center for Vertigo and Balance Disorders, LMU
+ University Hospital, LMU Munich, Germany.
+FAU - Synofzik, Matthis
+AU - Synofzik M
+AD - Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute
+ for Clinical Brain Research and Center of Neurology, University of Tubingen,
+ Tubingen, Germany. matthis.synofzik@uni-tuebingen.de.
+AD - German Center for Neurodegenerative Diseases (DZNE), Tubingen, Germany.
+ matthis.synofzik@uni-tuebingen.de.
+LA - eng
+GR - 101156595/HORIZON EUROPE Framework Programme/
+GR - 01EO 1401/Bundesministerium fur Forschung und Technologie/
+GR - 189963/CAPMC/CIHR/Canada
+PT - Journal Article
+DEP - 20260525
+PL - Germany
+TA - J Neurol
+JT - Journal of neurology
+JID - 0423161
+RN - 62031-54-3 (Fibroblast Growth Factors)
+RN - 0 (fibroblast growth factor 14)
+RN - EC 3.6.4.- (Replication Protein C)
+RN - 0 (RFC1 protein, human)
+SB - IM
+MH - Humans
+MH - *Bilateral Vestibulopathy/genetics/physiopathology/epidemiology
+MH - Male
+MH - Female
+MH - Middle Aged
+MH - Phenotype
+MH - *Fibroblast Growth Factors/genetics
+MH - *Replication Protein C/genetics
+MH - Adult
+MH - Aged
+MH - *DNA Repeat Expansion/genetics
+PMC - PMC13199202
+OTO - NOTNLM
+OT - FGF14
+OT - Bilateral vestibulopathy
+OT - CANVAS
+OT - Cerebellar ataxia
+OT - GAA-FGF14 ataxia
+OT - SCA27B
+COIS- Declarations. Conflicts of interest: DP reports no disclosures. FH reports no
+ disclosures. AT reports no disclosures. PI reports no disclosures. MJD reports no
+ disclosures. SZ reports no disclosures. AMH reports no disclosures. DR served as
+ consultant for Boehringer-Ingelheim and Janssen, received honoraria from
+ Boehringer-Ingelheim, Gerot Lannacher, Indorsia, Janssen and Pharmagenetix,
+ received research/travel support from Angelini, Boehringer-Ingelheim, Janssen and
+ Schwabe, and served on advisory boards of AC Immune, Boehringer-Ingelheim,
+ Indorsia, Roche and Rovi, all unrelated to the present manuscript. HH reports no
+ disclosures. BB reports no disclosures. MSt is Joint Chief Editor of the Journal
+ of Neurology, Editor in Chief of Frontiers of Neuro-otology and Section Editor of
+ F1000. He has received speakers' honoraria from Abbott, Auris Medical, Biogen,
+ Eisai, Grunenthal, GSK, Henning Pharma, Interacoustics, J&J, MSD, NeuroUpdate,
+ Otometrics, Pierre-Fabre, TEVA, UCB, and Viatris. He receives support for
+ clinical studies from Decibel, U.S.A., Cure within Reach, U.S.A. and Heel,
+ Germany. He distributes M-glasses and Positional vertigo App. He acts as a
+ consultant for Abbott, AurisMedical, Bulbitec, Heel, IntraBio, Sensorion and
+ Vertify. He is an investor and share-holder of IntraBio. All are unrelated to the
+ present manuscript. MSy has received consultancy honoraria from Janssen, Ionis,
+ Orphazyme, Insmed, Servier, Reata, Biohaven, Zevra, Lilly, GenOrph, and
+ AviadoBio, all unrelated to the present manuscript. Ethical approval: This study
+ was approved by the ethics committee of the LMU University Hospital, LMU Munich,
+ Germany (IRB# 379-11) and was performed in accordance with the ethical standards
+ laid down in the 1964 Declaration of Helsinki and its later amendments. Written
+ informed consent from all participants was obtained.
+EDAT- 2026/05/25 00:30
+MHDA- 2026/05/25 00:31
+PMCR- 2026/05/25
+CRDT- 2026/05/24 23:21
+PHST- 2026/01/21 00:00 [received]
+PHST- 2026/05/13 00:00 [accepted]
+PHST- 2026/04/20 00:00 [revised]
+PHST- 2026/05/25 00:31 [medline]
+PHST- 2026/05/25 00:30 [pubmed]
+PHST- 2026/05/24 23:21 [entrez]
+PHST- 2026/05/25 00:00 [pmc-release]
+AID - 10.1007/s00415-026-13867-1 [pii]
+AID - 13867 [pii]
+AID - 10.1007/s00415-026-13867-1 [doi]
+PST - epublish
+SO - J Neurol. 2026 May 25;273(6):339. doi: 10.1007/s00415-026-13867-1.
+
+PMID- 42168446
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260521
+LR - 20260524
+IS - 1432-1459 (Electronic)
+IS - 0340-5354 (Print)
+IS - 0340-5354 (Linking)
+VI - 273
+IP - 6
+DP - 2026 May 21
+TI - SCA27B in Brazil: frequency, phenotype and genotype-phenotype correlations.
+LID - 10.1007/s00415-026-13880-4 [doi]
+LID - 326
+AB - BACKGROUND: Spinocerebellar Ataxia 27B (SCA27B) is a recently described autosomal
+ dominant ataxia caused by uniallelic GAA intronic expansions at FGF14. It is a
+ frequent SCA subtype in North American/European populations, accounting for > 20%
+ of all SCAs in some series. Despite that, its frequency as well as phenotype in
+ Latin America remains to be established. OBJECTIVES: To determine the frequency
+ and the clinical phenotype of SCA27B in a large Brazilian SCA cohort. METHODS: We
+ recruited 498 SCA patients from 322 unrelated families followed in a reference
+ center. All patients had demographic and clinical data collected. The estimated
+ disease progression rate was computed as the ratio between the Scale for the
+ Assessment and Rating of Ataxia (SARA) score and disease duration (in years).
+ Genetic testing included long-range and triplet-primed PCR-based approaches to
+ diagnose SCA1, 2, 3, 6, 7 and SCA27B. RESULTS: SCA27B was identified in 9 out of
+ the 322 index-patients, totaling 2.8% of all cases. It stands as the fifth most
+ common SCA, surpassed by SCAs 3, 1, 2, and 7, respectively. The typical phenotype
+ in our cases was similar to previous descriptions: late onset (mean age
+ 55.5 years), slow progression (1.0 points/year) and relatively pure ataxic
+ phenotype (11/12). In this cohort, the estimated disease progression rate did
+ correlate with age at onset, but not with (GAA)n. DISCUSSION: SCA27B is a
+ prevalent SCA in Brazil, but the relative frequency seems to be smaller than in
+ Europe/Canada. It should be included in SCA routine diagnostic protocols. Age at
+ onset might be a potential prognostic marker in this condition.
+CI - (c) 2026. The Author(s).
+FAU - de Jesus Araujo Dias, Amanda
+AU - de Jesus Araujo Dias A
+AD - Department of Neurology, School of Medical Sciences, University of Campinas
+ (UNICAMP), Rua Tessalia Vieira de Camargo, 126, Cidade Universitaria "Zeferino
+ Vaz", Campinas, Sao Paulo, 13083-887, Brazil.
+FAU - Silveira, Cynthia
+AU - Silveira C
+AD - Department of Neurology, School of Medical Sciences, University of Campinas
+ (UNICAMP), Rua Tessalia Vieira de Camargo, 126, Cidade Universitaria "Zeferino
+ Vaz", Campinas, Sao Paulo, 13083-887, Brazil.
+FAU - Vinagre, Adriana Mendes
+AU - Vinagre AM
+AD - Department of Neurology, School of Medical Sciences, University of Campinas
+ (UNICAMP), Rua Tessalia Vieira de Camargo, 126, Cidade Universitaria "Zeferino
+ Vaz", Campinas, Sao Paulo, 13083-887, Brazil.
+FAU - Bonadia, Luciana Cardoso
+AU - Bonadia LC
+AD - Laboratory of Molecular Genetics, School of Medical Sciences, University of
+ Campinas (UNICAMP), Campinas, Sao Paulo, Brazil.
+FAU - Santos, Nadson Bruno Serra
+AU - Santos NBS
+AD - Department of Neurology, School of Medical Sciences, University of Campinas
+ (UNICAMP), Rua Tessalia Vieira de Camargo, 126, Cidade Universitaria "Zeferino
+ Vaz", Campinas, Sao Paulo, 13083-887, Brazil.
+FAU - Rezende, Thiago Junqueira R
+AU - Rezende TJR
+AD - Department of Neurology, School of Medical Sciences, University of Campinas
+ (UNICAMP), Rua Tessalia Vieira de Camargo, 126, Cidade Universitaria "Zeferino
+ Vaz", Campinas, Sao Paulo, 13083-887, Brazil.
+FAU - Corazza, Luiza Alves
+AU - Corazza LA
+AD - Department of Neurology, Ataxia Unit, Federal University of Sao Paulo (UNIFESP),
+ Sao Paulo, SP, Brazil.
+FAU - Pedroso, Jose Luiz
+AU - Pedroso JL
+AD - Department of Neurology, Ataxia Unit, Federal University of Sao Paulo (UNIFESP),
+ Sao Paulo, SP, Brazil.
+FAU - Barsottini, Orlando Graziani P
+AU - Barsottini OGP
+AD - Department of Neurology, Ataxia Unit, Federal University of Sao Paulo (UNIFESP),
+ Sao Paulo, SP, Brazil.
+FAU - de Lima, Fabricio Diniz
+AU - de Lima FD
+AD - Department of Neurology, School of Medical Sciences, University of Campinas
+ (UNICAMP), Rua Tessalia Vieira de Camargo, 126, Cidade Universitaria "Zeferino
+ Vaz", Campinas, Sao Paulo, 13083-887, Brazil.
+FAU - Franca Junior, Marcondes C
+AU - Franca Junior MC
+AUID- ORCID: 0000-0003-0898-2419
+AD - Department of Neurology, School of Medical Sciences, University of Campinas
+ (UNICAMP), Rua Tessalia Vieira de Camargo, 126, Cidade Universitaria "Zeferino
+ Vaz", Campinas, Sao Paulo, 13083-887, Brazil. mcfjr@unicamp.br.
+LA - eng
+GR - 2013/07559-3/Fundacao de Amparo a Pesquisa do Estado de Sao Paulo/
+PT - Journal Article
+DEP - 20260521
+PL - Germany
+TA - J Neurol
+JT - Journal of neurology
+JID - 0423161
+SB - IM
+MH - Humans
+MH - Brazil/epidemiology
+MH - Male
+MH - Female
+MH - Middle Aged
+MH - *Spinocerebellar Ataxias/genetics/epidemiology/physiopathology
+MH - Adult
+MH - Aged
+MH - Phenotype
+MH - Genetic Association Studies
+MH - Disease Progression
+MH - Cohort Studies
+MH - Age of Onset
+MH - Adolescent
+MH - Young Adult
+MH - Genotype
+PMC - PMC13194261
+OTO - NOTNLM
+OT - Ataxia
+OT - SCA27B
+OT - epidemiology
+OT - repeat expansion disease
+COIS- Declarations. Conflicts of interest: There is no conflict of interest.
+EDAT- 2026/05/22 00:33
+MHDA- 2026/05/22 00:34
+PMCR- 2026/05/21
+CRDT- 2026/05/21 23:33
+PHST- 2026/02/22 00:00 [received]
+PHST- 2026/05/13 00:00 [accepted]
+PHST- 2026/05/03 00:00 [revised]
+PHST- 2026/05/22 00:34 [medline]
+PHST- 2026/05/22 00:33 [pubmed]
+PHST- 2026/05/21 23:33 [entrez]
+PHST- 2026/05/21 00:00 [pmc-release]
+AID - 10.1007/s00415-026-13880-4 [pii]
+AID - 13880 [pii]
+AID - 10.1007/s00415-026-13880-4 [doi]
+PST - epublish
+SO - J Neurol. 2026 May 21;273(6):326. doi: 10.1007/s00415-026-13880-4.
+
+PMID- 42096001
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260507
+LR - 20260510
+IS - 1473-4230 (Electronic)
+IS - 1473-4222 (Print)
+IS - 1473-4222 (Linking)
+VI - 25
+IP - 3
+DP - 2026 May 7
+TI - Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed
+ Cerebellar Ataxia - A Preliminary Study.
+LID - 10.1007/s12311-026-02003-4 [doi]
+LID - 73
+AB - Spinocerebellar ataxia type 27B (SCA27B), caused by an intronic GAA repeat
+ expansion in the FGF14 gene, has recently emerged as a major cause of late-onset
+ cerebellar ataxia (LOCA). Its prevalence and clinical profile in Central and
+ Eastern Europe remain largely unknown. To determine the frequency and phenotypic
+ characteristics of FGF14 GAA.TTC repeat expansions, a large cohort of Polish
+ patients with undiagnosed adult-onset cerebellar ataxia was investigated. We
+ retrospectively analyzed 701 patients (age of onset >/= 25 years) with adult-onset
+ cerebellar ataxia of unknown etiology, previously tested negative for SCA1, SCA2,
+ SCA3, SCA8, and RFC1 expansions. GAA.TTC repeat lengths were assessed using
+ long-range and repeat-primed PCR. Expansions >/= 250 repeats were classified as
+ pathogenic. Clinical and MRI data were evaluated where available. A control group
+ of 66 neurologically healthy individuals was also screened. Pathogenic FGF14
+ expansions (>/= 250 repeats) were identified in 4.4% (31/701) of patients,
+ including 23 with fully penetrant (>/= 300) and 8 with incompletely penetrant
+ (250-299) alleles. No pathogenic expansions were found in controls. The mean age
+ of onset was 49.8 years. Common symptoms included balance and gait disturbances,
+ cerebellar syndrome, and episodic features such as diplopia. Cerebellar atrophy
+ was present in 45% of patients with available MRI. No significant correlation
+ between repeat length and age of onset was observed. Our findings confirm that
+ FGF14 repeat expansions are an underrecognized cause of LOCA in Poland and
+ support their inclusion in standard genetic testing for adult-onset ataxias.
+ Further studies are warranted to better define penetrance and genotype-phenotype
+ correlations.
+CI - (c) 2026. The Author(s).
+FAU - Matlawska, Marta
+AU - Matlawska M
+AUID- ORCID: 0000-0003-4310-5091
+AD - Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 ,
+ 02-957, Warsaw, Poland. mmatlawska@ipin.edu.pl.
+FAU - Ziora-Jakutowicz, Karolina
+AU - Ziora-Jakutowicz K
+AD - Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 ,
+ 02-957, Warsaw, Poland.
+FAU - Dicaire, Marie-Josee
+AU - Dicaire MJ
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+FAU - Pera, Joanna
+AU - Pera J
+AD - Department of Neurology, Jagiellonian University Medical College, Krakow, Poland.
+FAU - Pellerin, David
+AU - Pellerin D
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
+ London and The National Hospital for Neurology and Neurosurgery, University
+ College London, London, United Kingdom.
+FAU - Brais, Bernard
+AU - Brais B
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+FAU - Iruzubieta, Pablo
+AU - Iruzubieta P
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+FAU - Elert-Dobkowska, Ewelina
+AU - Elert-Dobkowska E
+AD - Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 ,
+ 02-957, Warsaw, Poland.
+FAU - Sulek, Anna
+AU - Sulek A
+AD - Faculty of Medicine, Lazarski University, Warsaw, Poland.
+LA - eng
+PT - Journal Article
+DEP - 20260507
+PL - United States
+TA - Cerebellum
+JT - Cerebellum (London, England)
+JID - 101089443
+RN - 62031-54-3 (Fibroblast Growth Factors)
+RN - 0 (fibroblast growth factor 14)
+SB - IM
+MH - Humans
+MH - Male
+MH - Female
+MH - Middle Aged
+MH - *Fibroblast Growth Factors/genetics
+MH - Poland/epidemiology
+MH - Adult
+MH - *Cerebellar Ataxia/genetics/diagnosis/epidemiology
+MH - Aged
+MH - Retrospective Studies
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Age of Onset
+MH - Magnetic Resonance Imaging
+PMC - PMC13152904
+OTO - NOTNLM
+OT - FGF14 expansion
+OT - Neurodegenerative disorders
+OT - SCA27B
+OT - Spinocerebellar ataxia
+COIS- Declarations. Human Ethics and Consent to Participate: The study was conducted in
+ accordance with the Declaration of Helsinki and its subsequent amendments. The
+ protocol was approved by the Local Bioethics Committee at the Institute of
+ Psychiatry and Neurology in Warsaw (resolution no. 30/2021 November 17, 2021).
+ Consents to Participate: Informed consent was obtained from all individual
+ participants included in the study. Competing Interests: The authors declare no
+ competing interests.
+EDAT- 2026/05/07 12:36
+MHDA- 2026/05/07 12:37
+PMCR- 2026/05/07
+CRDT- 2026/05/07 11:08
+PHST- 2025/09/07 00:00 [received]
+PHST- 2026/04/09 00:00 [accepted]
+PHST- 2026/05/07 12:37 [medline]
+PHST- 2026/05/07 12:36 [pubmed]
+PHST- 2026/05/07 11:08 [entrez]
+PHST- 2026/05/07 00:00 [pmc-release]
+AID - 10.1007/s12311-026-02003-4 [pii]
+AID - 2003 [pii]
+AID - 10.1007/s12311-026-02003-4 [doi]
+PST - epublish
+SO - Cerebellum. 2026 May 7;25(3):73. doi: 10.1007/s12311-026-02003-4.
+
+PMID- 42090775
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260514
+LR - 20260514
+IS - 1878-5883 (Electronic)
+IS - 0022-510X (Linking)
+VI - 486
+DP - 2026 Jul 15
+TI - Challenges in the diagnosis of spinocerebellar ATAXIA 27B.
+PG - 125969
+LID - S0022-510X(26)00251-0 [pii]
+LID - 10.1016/j.jns.2026.125969 [doi]
+AB - OBJECTIVE: To characterize the clinical, radiologic, and genetic spectrum of
+ patients with (GAA) repeat expansions in FGF14 gene and to analyze diagnostic
+ challenges associated with spinocerebellar ataxia type 27B (SCA27B). METHODS: We
+ retrospectively evaluated a Spanish cohort of 53 adults with idiopathic
+ late-onset cerebellar ataxia. The intronic FGF14 repeat locus was examined by
+ fluorescent long-range PCR to determine allele size, by bidirectional
+ repeat-primed PCR to verify the presence and nature of the expansion. Clinical
+ data, neuroimaging findings, and response to 4-aminopyridine were collected.
+ RESULTS: Among 53 ataxia patients, 39.62% (21/53) carried uninterrupted >200
+ (GAA) repeats in FGF14, all in heterozygosity. Of these, 71.42% (15/21) exhibited
+ >250 repeats, corresponding to 28.30% of the total cohort, and 73.33% (11/15) had
+ >300 repeats, representing 20.75% overall. Additionally, 11.32% (6/53) of
+ patients carried (GAA) 200-249 repeats, four of whom presented phenotypes
+ compatible with SCA27B. Neuroimaging showed cerebellar atrophy in 7/21 and
+ superior cerebellar peduncle hyperintensity in MRI of 7/17, including two
+ patients with 200-249 (GAA) repeats. Seventeen patients received 4-aminopyridine;
+ 11 continued therapy and 9 reported clinical improvement. CONCLUSIONS: SCA27B is
+ a frequent cause of idiopathic late-onset cerebellar ataxia. Downbeat nystagmus,
+ episodic symptoms, and superior cerebellar peduncle abnormalities increase
+ diagnostic suspicion. Expansions >250 (GAA) repeats are highly predictive,
+ whereas 200-250 may be pathogenic in compatible phenotypes. Early identification
+ is difficult but crucial given the potential therapeutic benefit of
+ 4-aminopyridine.
+CI - Copyright (c) 2026 The Authors. Published by Elsevier B.V. All rights reserved.
+FAU - Pons, Nuria Caballol
+AU - Pons NC
+AD - Movement Disorders Unit, Neurology Department, Complex Hospitalari Universitari
+ Moises Broggi, Carrer d'Oriol Martorell, 12, 08970 Sant Joan Despi, Barcelona,
+ Spain. Electronic address: ncaballol@csi.cat.
+FAU - Quiros, Alejandro Peral
+AU - Quiros AP
+AD - Movement Disorders Unit, Neurology Department, Complex Hospitalari Universitari
+ Moises Broggi, Carrer d'Oriol Martorell, 12, 08970 Sant Joan Despi, Barcelona,
+ Spain. Electronic address: aperalq@csi.cat.
+FAU - Planas-Ballve, Anna
+AU - Planas-Ballve A
+AD - Movement Disorders Unit, Neurology Department, Complex Hospitalari Universitari
+ Moises Broggi, Carrer d'Oriol Martorell, 12, 08970 Sant Joan Despi, Barcelona,
+ Spain.
+FAU - Del Toro, Paula Lombardo
+AU - Del Toro PL
+AD - Movement Disorders Unit, Neurology Department, Complex Hospitalari Universitari
+ Moises Broggi, Carrer d'Oriol Martorell, 12, 08970 Sant Joan Despi, Barcelona,
+ Spain. Electronic address: plombardodt@csi.cat.
+FAU - Sendra, Imma Hernan
+AU - Sendra IH
+AD - Genetics Area, CLILAB Diagnostics, Carrer de l'Espirall, 08720 Vilafranca del
+ Penedes, Barcelona, Spain. Electronic address: ihernan@cli.cat.
+FAU - Rivera, Asuncion Avila
+AU - Rivera AA
+AD - Movement Disorders Unit, Neurology Department, Complex Hospitalari Universitari
+ Moises Broggi, Carrer d'Oriol Martorell, 12, 08970 Sant Joan Despi, Barcelona,
+ Spain. Electronic address: aavila@csi.cat.
+LA - eng
+PT - Journal Article
+DEP - 20260430
+PL - Netherlands
+TA - J Neurol Sci
+JT - Journal of the neurological sciences
+JID - 0375403
+SB - IM
+MH - Humans
+MH - Male
+MH - Female
+MH - Middle Aged
+MH - Aged
+MH - Retrospective Studies
+MH - *Spinocerebellar Ataxias/genetics/diagnosis/diagnostic imaging
+MH - Adult
+MH - Magnetic Resonance Imaging
+MH - Cohort Studies
+MH - Trinucleotide Repeat Expansion/genetics
+OTO - NOTNLM
+OT - Ataxia
+OT - FGF14
+OT - GAA-FGF14 ataxia
+OT - Late-onset cerebellar ataxia
+OT - SCA27B
+COIS- Declaration of competing interest The authors declare that they have no known
+ competing financial interests or personal relationships that could have appeared
+ to influence the work reported in this paper.
+EDAT- 2026/05/07 00:33
+MHDA- 2026/05/15 00:31
+CRDT- 2026/05/06 18:03
+PHST- 2026/02/27 00:00 [received]
+PHST- 2026/04/10 00:00 [revised]
+PHST- 2026/04/28 00:00 [accepted]
+PHST- 2026/05/15 00:31 [medline]
+PHST- 2026/05/07 00:33 [pubmed]
+PHST- 2026/05/06 18:03 [entrez]
+AID - S0022-510X(26)00251-0 [pii]
+AID - 10.1016/j.jns.2026.125969 [doi]
+PST - ppublish
+SO - J Neurol Sci. 2026 Jul 15;486:125969. doi: 10.1016/j.jns.2026.125969. Epub 2026
+ Apr 30.
+
PMID- 42055934
OWN - NLM
STAT- Publisher
@@ -305,8 +952,8 @@ SO - Neurology. 2026 Mar 24;106(6):e214754. doi: 10.1212/WNL.0000000000214754.
PMID- 41504274
OWN - NLM
STAT- MEDLINE
-DCOM- 20260410
-LR - 20260412
+DCOM- 20260601
+LR - 20260601
IS - 1531-8257 (Electronic)
IS - 0885-3185 (Print)
IS - 0885-3185 (Linking)
@@ -459,20 +1106,22 @@ PL - United States
TA - Mov Disord
JT - Movement disorders : official journal of the Movement Disorder Society
JID - 8610688
+RN - 0 (fibroblast growth factor 14)
+RN - 62031-54-3 (Fibroblast Growth Factors)
SB - IM
MH - Humans
-MH - Male
MH - Female
+MH - Male
+MH - Cohort Studies
MH - Netherlands
MH - Middle Aged
MH - Aged
-MH - Adult
MH - Magnetic Resonance Imaging
-MH - Cohort Studies
MH - *Cerebellar Ataxia/genetics/diagnostic imaging
-MH - *Spinocerebellar Ataxias/genetics/diagnostic imaging
-MH - Retrospective Studies
MH - Trinucleotide Repeat Expansion/genetics
+MH - Adult
+MH - Retrospective Studies
+MH - Fibroblast Growth Factors
PMC - PMC13067310
OTO - NOTNLM
OT - Ataxia
@@ -498,30 +1147,37 @@ SO - Mov Disord. 2026 Apr;41(4):928-936. doi: 10.1002/mds.70190. Epub 2026 Jan
PMID- 41327893
OWN - NLM
-STAT- Publisher
-LR - 20251209
+STAT- MEDLINE
+DCOM- 20260505
+LR - 20260507
IS - 1460-2156 (Electronic)
+IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
-DP - 2025 Dec 2
+VI - 149
+IP - 5
+DP - 2026 May 5
TI - Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease.
-LID - awaf456 [pii]
+PG - 1514-1521
LID - 10.1093/brain/awaf456 [doi]
AB - Pathogenic GAA repeat expansions in FGF14 are an established cause of late-onset
- cerebellar ataxia, but have not been linked to Parkinson's disease (PD). Given
- emerging evidence that repeat expansions in ataxia-associated genes like RFC1,
- can contribute to atypical or familial forms of PD, we investigated whether FGF14
- expansions might play a similar role. Using long-read whole-genome sequencing, we
- analyzed 411 individuals with PD and 197 neurologically healthy controls from the
- PPMI cohort, together with 1,429 additional controls from the NIH CARD
- initiative, the 1000 Genomes Project, and the All of Us program, representing
- globally diverse populations. We identified pathogenic FGF14 GAA repeat
- expansions in five individuals with PD and one control. All five individuals fit
- the clinical criteria of PD and showed typical patterns of neurodegeneration on
- DaTSCAN imaging; alpha-synuclein aggregation was confirmed by a positive seeding
- assay among four individuals with available data. These findings broaden the
- phenotypic spectrum of FGF14 repeat-associated disease and suggest a rare,
- previously unrecognized genetic contributor to PD. To our knowledge, this is the
- first report implicating FGF14 in PD and underscores the utility of long-read
+ cerebellar ataxia, but have not been linked to Parkinson's disease. Given
+ emerging evidence that repeat expansions in ataxia-associated genes like RFC1 can
+ contribute to atypical or familial forms of Parkinson's disease, we investigated
+ whether FGF14 expansions might play a similar role. Using long-read whole-genome
+ sequencing, we analysed 411 individuals with Parkinson's disease and 197
+ neurologically healthy controls from the Parkinson's Progression Markers
+ Initiative (PPMI) cohort, together with 1429 additional controls from the
+ National Institutes of Health (NIH) Center for Alzheimer's Disease and Related
+ Dementias (CARD) initiative, the 1000 Genomes Project, and the All of Us program,
+ representing globally diverse populations. We identified pathogenic FGF14 GAA
+ repeat expansions in five individuals with Parkinson's disease and one control
+ subject. All five individuals fit the clinical criteria of Parkinson's disease
+ and showed typical patterns of neurodegeneration on DaTSCAN imaging; alpha-synuclein
+ aggregation was confirmed by a positive seeding assay among four individuals with
+ available data. These findings broaden the phenotypic spectrum of FGF14
+ repeat-associated disease and suggest a rare, previously unrecognized genetic
+ contributor to Parkinson's disease. To our knowledge, this is the first report
+ implicating FGF14 in Parkinson's disease and underscores the utility of long-read
sequencing for detecting hidden forms of pathogenic variation in unresolved
cases.
CI - (c) The Author(s) 2025. Published by Oxford University Press on behalf of the
@@ -579,7 +1235,7 @@ AD - Center for Alzheimer's and Related Dementias, National Institute on Aging
Health, Bethesda, MD 20892, USA.
FAU - Meredith, Melissa
AU - Meredith M
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Kouam, Cedric
AU - Kouam C
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
@@ -612,7 +1268,7 @@ AD - Laboratory of Neurogenetics, National Institute on Aging, National Institu
Health, Bethesda, MD 20892, USA.
FAU - Casey, Bradford
AU - Casey B
-AD - The Michael J. Fox Foundation for Parkinson's Research, Department of Clinical
+AD - Department of Clinical Research, The Michael J. Fox Foundation for Parkinson's
Research, New York, NY 10163, USA.
FAU - Iwaki, Hirotaka
AU - Iwaki H
@@ -620,7 +1276,7 @@ AUID- ORCID: 0000-0002-8982-7885
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Bandres-Ciga, Sara
AU - Bandres-Ciga S
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
@@ -629,17 +1285,17 @@ AD - Center for Alzheimer's and Related Dementias, National Institute on Aging
FAU - Saffie-Awad, Paula
AU - Saffie-Awad P
AD - Clinica Santa Maria, Santiago 7520349, Chile.
-AD - Department of Specialties, Faculty of Medicine, University of Concepcion, 4070409
- Concepcion, Chile.
-FAU - Nalls, Mike
-AU - Nalls M
+AD - Department of Specialties, Faculty of Medicine, University of Concepcion,
+ Concepcion 4070409, Chile.
+FAU - Nalls, Mike A
+AU - Nalls MA
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Fang, Zih-Hua
AU - Fang ZH
-AD - German Center for Neurodegenerative Diseases (DZNE), 72076 Tubingen, Germany.
+AD - German Center for Neurodegenerative Diseases (DZNE), Tubingen 72076, Germany.
FAU - Singleton, Andrew B
AU - Singleton AB
AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
@@ -656,39 +1312,68 @@ AD - Center for Alzheimer's and Related Dementias, National Institute on Aging
Health, Bethesda, MD 20892, USA.
FAU - Billingsley, Kimberley J
AU - Billingsley KJ
-AUID- ORCID: 0000-0002-2623-5997
+AUID- ORCID: 0000-0002-8003-4029
AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
Health, Bethesda, MD 20892, USA.
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
LA - eng
+GR - AG/NIA NIH HHS/United States
+GR - NS/NINDS NIH HHS/United States
+GR - Z01-AG000949/National Institutes of Health, Department of Health and Human
+ Services/
+GR - 1ZIANS003154/National Institutes of Health, Department of Health and Human
+ Services/
+GR - NIH HPC Biowulf cluster/
PT - Journal Article
-DEP - 20251202
PL - England
TA - Brain
JT - Brain : a journal of neurology
JID - 0372537
+RN - 62031-54-3 (Fibroblast Growth Factors)
+RN - 0 (fibroblast growth factor 14)
+RN - 0 (alpha-Synuclein)
SB - IM
UOF - medRxiv. 2025 Aug 19:2025.08.14.25333596. doi: 10.1101/2025.08.14.25333596. PMID:
40894141
+MH - Humans
+MH - *Parkinson Disease/genetics/diagnostic imaging
+MH - Male
+MH - Female
+MH - Aged
+MH - *Fibroblast Growth Factors/genetics
+MH - Middle Aged
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Whole Genome Sequencing
+MH - alpha-Synuclein/metabolism
+MH - Cohort Studies
+MH - Aged, 80 and over
+PMC - PMC13140659
OTO - NOTNLM
OT - FGF14
OT - Parkinson's disease
OT - long-read sequencing
OT - short tandem repeats
+COIS- M.A.N.'s participation in this project was part of a competitive contract awarded
+ to DataTecnica LLC by the National Institutes of Health to support open science
+ research; he also currently owns stock in Character Bio and Neuron23 Inc.
EDAT- 2025/12/02 07:36
-MHDA- 2025/12/02 07:36
+MHDA- 2026/05/05 12:38
+PMCR- 2025/12/02
CRDT- 2025/12/02 02:24
PHST- 2025/08/12 00:00 [received]
PHST- 2025/11/05 00:00 [revised]
-PHST- 2025/12/02 07:36 [medline]
+PHST- 2025/11/15 00:00 [accepted]
+PHST- 2026/05/05 12:38 [medline]
PHST- 2025/12/02 07:36 [pubmed]
PHST- 2025/12/02 02:24 [entrez]
+PHST- 2025/12/02 00:00 [pmc-release]
AID - 8362499 [pii]
+AID - awaf456 [pii]
AID - 10.1093/brain/awaf456 [doi]
-PST - aheadofprint
-SO - Brain. 2025 Dec 2:awaf456. doi: 10.1093/brain/awaf456.
+PST - ppublish
+SO - Brain. 2026 May 5;149(5):1514-1521. doi: 10.1093/brain/awaf456.
PMID- 41277530
OWN - NLM
@@ -1997,7 +2682,7 @@ PMID- 40894141
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20251209
-LR - 20251209
+LR - 20260505
DP - 2025 Aug 19
TI - Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease.
LID - 2025.08.14.25333596 [pii]
@@ -2198,7 +2883,7 @@ PL - United States
TA - medRxiv
JT - medRxiv : the preprint server for health sciences
JID - 101767986
-UIN - Brain. 2025 Dec 02:awaf456. doi: 10.1093/brain/awaf456. PMID: 41327893
+UIN - Brain. 2026 May 5;149(5):1514-1521. doi: 10.1093/brain/awaf456. PMID: 41327893
PMC - PMC12393589
COIS- Conflicts of interest M.A.N. 's participation in this project was part of a
competitive contract awarded to DataTecnica LLC by the National Institutes of
@@ -6042,7 +6727,7 @@ PMID- 39604554
OWN - NLM
STAT- MEDLINE
DCOM- 20250426
-LR - 20250610
+LR - 20260518
IS - 1476-5438 (Electronic)
IS - 1018-4813 (Print)
IS - 1018-4813 (Linking)
@@ -6518,7 +7203,7 @@ PMID- 39571249
OWN - NLM
STAT- MEDLINE
DCOM- 20241212
-LR - 20241212
+LR - 20260506
IS - 1878-5883 (Electronic)
IS - 0022-510X (Linking)
VI - 467
@@ -7102,7 +7787,7 @@ PMID- 39263992
OWN - NLM
STAT- MEDLINE
DCOM- 20241114
-LR - 20251202
+LR - 20260528
IS - 1531-8249 (Electronic)
IS - 0364-5134 (Print)
IS - 0364-5134 (Linking)
@@ -7284,10 +7969,11 @@ GR - NINDS R35NS116868/
GR - R35 NS122302/NS/NINDS NIH HHS/United States
GR - Raynor Cerebellum project/
GR - R01 NS078560/NS/NINDS NIH HHS/United States
-GR - CAPMC/CIHR/Canada
+GR - CIHR/Canada
GR - NIH R01 NS078560/
PT - Journal Article
PT - Multicenter Study
+PT - Research Support, N.I.H., Extramural
DEP - 20240912
PL - United States
TA - Ann Neurol
@@ -8522,7 +9208,7 @@ PMID- 38816190
OWN - NLM
STAT- MEDLINE
DCOM- 20241118
-LR - 20250111
+LR - 20260517
IS - 1468-330X (Electronic)
IS - 0022-3050 (Linking)
VI - 95
@@ -8729,6 +9415,7 @@ AD - Department of Rare Disease Genomics, Yokohama City University Hospital, Yo
Japan.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20241118
PL - England
TA - J Neurol Neurosurg Psychiatry
@@ -11826,7 +12513,7 @@ PMID- 37165652
OWN - NLM
STAT- MEDLINE
DCOM- 20231010
-LR - 20260127
+LR - 20260518
IS - 1460-2156 (Electronic)
IS - 0006-8950 (Linking)
VI - 146
diff --git a/data/literature/FMR1_batch_01.txt b/data/literature/FMR1_batch_01.txt
index abe83629..5992521e 100644
--- a/data/literature/FMR1_batch_01.txt
+++ b/data/literature/FMR1_batch_01.txt
@@ -211,14 +211,18 @@ SO - Hum Reprod. 2026 Apr 19:deag061. doi: 10.1093/humrep/deag061.
PMID- 41952192
OWN - NLM
-STAT- Publisher
-LR - 20260409
+STAT- MEDLINE
+DCOM- 20260518
+LR - 20260520
IS - 1741-7015 (Electronic)
IS - 1741-7015 (Linking)
+VI - 24
+IP - 1
DP - 2026 Apr 8
TI - Targeted long-read genomic and epigenomic profiling enhances timely comprehensive
variant discovery in hypotonia and muscle weakness.
LID - 10.1186/s12916-026-04850-8 [doi]
+LID - 307
AB - BACKGROUND: Identifying the genetic basis of hypotonia and muscle weakness is
critical for patient management and family counseling. However, diagnosis is
often hindered by diverse genomic alterations, including repeat expansions,
@@ -317,6 +321,18 @@ TA - BMC Med
JT - BMC medicine
JID - 101190723
SB - IM
+MH - Humans
+MH - *Muscle Hypotonia/genetics/diagnosis
+MH - *Muscle Weakness/genetics/diagnosis
+MH - Retrospective Studies
+MH - Female
+MH - Male
+MH - Whole Genome Sequencing/methods
+MH - *Epigenomics/methods
+MH - Genomics/methods
+MH - Infant
+MH - Child, Preschool
+PMC - PMC13181904
OTO - NOTNLM
OT - CNVs
OT - DNA methylation profiling
@@ -334,17 +350,20 @@ COIS- Declarations. Ethics approval and consent to participate: All patients or
DSREC-SR-05/2024_03 and DSREC-08/2024_09). Consent for publication: Not
applicable. Competing interests: The authors declare no competing interests.
EDAT- 2026/04/09 06:32
-MHDA- 2026/04/09 06:32
+MHDA- 2026/05/18 06:31
+PMCR- 2026/04/08
CRDT- 2026/04/09 00:20
PHST- 2025/12/14 00:00 [received]
PHST- 2026/03/31 00:00 [accepted]
-PHST- 2026/04/09 06:32 [medline]
+PHST- 2026/05/18 06:31 [medline]
PHST- 2026/04/09 06:32 [pubmed]
PHST- 2026/04/09 00:20 [entrez]
+PHST- 2026/04/08 00:00 [pmc-release]
AID - 10.1186/s12916-026-04850-8 [pii]
+AID - 4850 [pii]
AID - 10.1186/s12916-026-04850-8 [doi]
-PST - aheadofprint
-SO - BMC Med. 2026 Apr 8. doi: 10.1186/s12916-026-04850-8.
+PST - epublish
+SO - BMC Med. 2026 Apr 8;24(1):307. doi: 10.1186/s12916-026-04850-8.
PMID- 41929501
OWN - NLM
@@ -578,16 +597,20 @@ SO - Ann Clin Transl Neurol. 2026 Mar 31. doi: 10.1002/acn3.70375.
PMID- 41806827
OWN - NLM
-STAT- Publisher
-LR - 20260317
+STAT- MEDLINE
+DCOM- 20260513
+LR - 20260516
IS - 2666-979X (Electronic)
IS - 2666-979X (Linking)
-DP - 2026 Mar 9
+VI - 6
+IP - 5
+DP - 2026 May 13
TI - Long-read genome sequencing improves detection and functional interpretation of
structural and repeat variants in autism.
PG - 101186
LID - S2666-979X(26)00048-0 [pii]
LID - 10.1016/j.xgen.2026.101186 [doi]
+LID - 101186
AB - Long-read whole-genome sequencing (LR-WGS) technologies enhance the discovery of
structural variants (SVs) and tandem repeats (TRs). We performed LR-WGS on 267
individuals from 63 autism spectrum disorder (ASD) families and generated an
@@ -669,9 +692,24 @@ PL - United States
TA - Cell Genom
JT - Cell genomics
JID - 9918284260106676
+RN - 139135-51-6 (Fragile X Messenger Ribonucleoprotein 1)
+RN - 0 (FMR1 protein, human)
SB - IM
UOF - medRxiv. 2025 Jul 23:2025.07.20.25331880. doi: 10.1101/2025.07.20.25331880. PMID:
40778130
+MH - Humans
+MH - *Whole Genome Sequencing/methods
+MH - DNA Methylation/genetics
+MH - *Autism Spectrum Disorder/genetics
+MH - Male
+MH - Female
+MH - Fragile X Messenger Ribonucleoprotein 1/genetics
+MH - *Tandem Repeat Sequences/genetics
+MH - *Genomic Structural Variation/genetics
+MH - *Autistic Disorder/genetics
+MH - Genome, Human
+MH - Promoter Regions, Genetic
+PMC - PMC13174233
OTO - NOTNLM
OT - CGG repeat
OT - FMR1
@@ -685,24 +723,28 @@ OT - structural variation
OT - tandem repeat
COIS- Declaration of interests The authors declare no competing interests.
EDAT- 2026/03/11 01:11
-MHDA- 2026/03/11 01:11
+MHDA- 2026/05/14 00:31
+PMCR- 2026/03/09
CRDT- 2026/03/10 19:41
PHST- 2025/07/17 00:00 [received]
PHST- 2026/02/11 00:00 [revised]
PHST- 2026/02/12 00:00 [accepted]
-PHST- 2026/03/11 01:11 [medline]
+PHST- 2026/05/14 00:31 [medline]
PHST- 2026/03/11 01:11 [pubmed]
PHST- 2026/03/10 19:41 [entrez]
+PHST- 2026/03/09 00:00 [pmc-release]
AID - S2666-979X(26)00048-0 [pii]
+AID - 101186 [pii]
AID - 10.1016/j.xgen.2026.101186 [doi]
-PST - aheadofprint
-SO - Cell Genom. 2026 Mar 9:101186. doi: 10.1016/j.xgen.2026.101186.
+PST - ppublish
+SO - Cell Genom. 2026 May 13;6(5):101186. doi: 10.1016/j.xgen.2026.101186. Epub 2026
+ Mar 9.
PMID- 41792844
OWN - NLM
STAT- MEDLINE
DCOM- 20260415
-LR - 20260423
+LR - 20260511
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
VI - 14
@@ -765,6 +807,10 @@ AD - Department of Neurology, Washington University School of Medicine, Saint L
MO, USA. weihlc@wustl.edu.
LA - eng
GR - R01 NS086810/NS/NINDS NIH HHS/United States
+GR - R01 AG031867/AG/NIA NIH HHS/United States
+GR - K24 AR073317/AR/NIAMS NIH HHS/United States
+GR - P50 HD104463/HD/NICHD NIH HHS/United States
+GR - R21 NS129096/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20260306
PL - England
@@ -1850,9 +1896,9 @@ SO - J Korean Acad Child Adolesc Psychiatry. 2026 Jan 1;37(1):63-69. doi:
PMID- 41514368
OWN - NLM
-STAT- MEDLINE
+STAT- In-Process
DCOM- 20260128
-LR - 20260129
+LR - 20260601
IS - 1756-994X (Electronic)
IS - 1756-994X (Linking)
VI - 18
@@ -2049,8 +2095,8 @@ SO - Genome Med. 2026 Jan 9;18(1):12. doi: 10.1186/s13073-025-01596-5.
PMID- 41507195
OWN - NLM
STAT- MEDLINE
-DCOM- 20260206
-LR - 20260210
+DCOM- 20260601
+LR - 20260601
IS - 2041-1723 (Electronic)
IS - 2041-1723 (Linking)
VI - 17
@@ -2163,30 +2209,27 @@ PL - England
TA - Nat Commun
JT - Nature communications
JID - 101528555
+RN - EC 2.7.11.13 (Protein Kinase C)
RN - 139135-51-6 (Fragile X Messenger Ribonucleoprotein 1)
RN - EC 2.7.1.- (protein kinase C gamma)
-RN - EC 2.7.11.13 (Protein Kinase C)
-RN - 0 (Fmr1 protein, mouse)
RN - Fragile X Tremor Ataxia Syndrome
SB - IM
MH - Animals
MH - *Fragile X Syndrome/genetics/metabolism/pathology
-MH - *Tremor/genetics/metabolism/pathology
MH - *GABAergic Neurons/metabolism/pathology
+MH - *Tremor/genetics/metabolism/pathology
MH - Mice
+MH - *Protein Kinase C/genetics/metabolism
MH - Fragile X Messenger Ribonucleoprotein 1/genetics/metabolism
MH - *Ataxia/genetics/metabolism/pathology
-MH - Trinucleotide Repeat Expansion/genetics
-MH - *Protein Kinase C/genetics/metabolism
-MH - Disease Models, Animal
MH - Humans
+MH - Disease Models, Animal
MH - Male
+MH - Trinucleotide Repeat Expansion/genetics
MH - Transcriptome
MH - Gene Expression Profiling
-MH - Brain/metabolism/pathology
MH - Female
-MH - Drosophila melanogaster
-MH - Drosophila
+MH - Mice, Transgenic
PMC - PMC12881518
COIS- Competing interests: The authors declare no competing interests.
EDAT- 2026/01/09 00:26
@@ -3252,7 +3295,7 @@ PMID- 41145158
OWN - NLM
STAT- MEDLINE
DCOM- 20251027
-LR - 20260420
+LR - 20260527
IS - 1944-7558 (Electronic)
IS - 1944-7515 (Print)
IS - 1944-7558 (Linking)
@@ -3315,6 +3358,7 @@ LA - eng
GR - P50 HD105353/HD/NICHD NIH HHS/United States
GR - R01 HD082110/HD/NICHD NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
PL - United States
TA - Am J Intellect Dev Disabil
JT - American journal on intellectual and developmental disabilities
@@ -4248,7 +4292,7 @@ PMID- 40940631
OWN - NLM
STAT- MEDLINE
DCOM- 20251101
-LR - 20260127
+LR - 20260530
IS - 1867-0687 (Electronic)
IS - 1708-8569 (Print)
VI - 21
@@ -4342,6 +4386,7 @@ GR - 82373971/National Natural Science Foundation of China/
GR - 2023YFC2706100/Key Technologies Research and Development Program/
PT - Journal Article
PT - Multicenter Study
+PT - Research Support, Non-U.S. Gov't
DEP - 20250912
PL - Switzerland
TA - World J Pediatr
@@ -4885,7 +4930,7 @@ PMID- 40778130
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20260317
-LR - 20260317
+LR - 20260513
DP - 2025 Jul 23
TI - Long Read Genome Sequencing Elucidates Diverse Functional Consequences of
Structural and Repeat Variation in Autism.
@@ -4969,7 +5014,8 @@ PL - United States
TA - medRxiv
JT - medRxiv : the preprint server for health sciences
JID - 101767986
-UIN - Cell Genom. 2026 Mar 9:101186. doi: 10.1016/j.xgen.2026.101186. PMID: 41806827
+UIN - Cell Genom. 2026 May 13;6(5):101186. doi: 10.1016/j.xgen.2026.101186. PMID:
+ 41806827
PMC - PMC12330410
OTO - NOTNLM
OT - CGG repeat
@@ -5618,7 +5664,7 @@ PMID- 40459253
OWN - NLM
STAT- MEDLINE
DCOM- 20250828
-LR - 20260127
+LR - 20260528
IS - 1531-8249 (Electronic)
IS - 0364-5134 (Print)
IS - 0364-5134 (Linking)
@@ -5699,6 +5745,7 @@ GR - MH078041/MH/NIMH NIH HHS/United States
GR - NS110100/NS/NINDS NIH HHS/United States
GR - R01 HD036071/HD/NICHD NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
DEP - 20250603
PL - United States
TA - Ann Neurol
@@ -5901,7 +5948,7 @@ PMID- 40418066
OWN - NLM
STAT- MEDLINE
DCOM- 20250908
-LR - 20260127
+LR - 20260527
IS - 1552-485X (Electronic)
IS - 1552-4841 (Print)
IS - 1552-4841 (Linking)
@@ -6037,10 +6084,10 @@ CRDT- 2025/05/26 08:44
PHST- 2025/04/01 00:00 [revised]
PHST- 2025/01/22 00:00 [received]
PHST- 2025/05/07 00:00 [accepted]
-PHST- 2026/05/26 00:00 [pmc-release]
PHST- 2025/09/08 12:44 [medline]
PHST- 2025/05/26 12:37 [pubmed]
PHST- 2025/05/26 08:44 [entrez]
+PHST- 2026/05/26 00:00 [pmc-release]
AID - 10.1002/ajmg.b.33033 [doi]
PST - ppublish
SO - Am J Med Genet B Neuropsychiatr Genet. 2025 Oct;198(7):103-119. doi:
@@ -6050,7 +6097,7 @@ PMID- 40417743
OWN - NLM
STAT- MEDLINE
DCOM- 20250803
-LR - 20260416
+LR - 20260523
IS - 1530-0366 (Electronic)
IS - 1098-3600 (Print)
IS - 1098-3600 (Linking)
@@ -6175,10 +6222,12 @@ AD - Dr John T. Macdonald Foundation Department of Human Genetics and John P. H
Institute for Human Genetics, University of Miami Miller School of Medicine,
Miami, FL. Electronic address: szuchner@med.miami.edu.
LA - eng
-GR - K99 HG012796/HG/NHGRI NIH HHS/United States
GR - R00 HG012796/HG/NHGRI NIH HHS/United States
-GR - RC2 TR004391/TR/NCATS NIH HHS/United States
GR - U01 NS134353/NS/NINDS NIH HHS/United States
+GR - U01 HG007672/HG/NHGRI NIH HHS/United States
+GR - RC2 TR004391/TR/NCATS NIH HHS/United States
+GR - K99 HG012796/HG/NHGRI NIH HHS/United States
+GR - U01 NS134350/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20250522
PL - United States
@@ -6848,10 +6897,10 @@ CRDT- 2025/05/26 06:18
PHST- 2024/08/07 00:00 [received]
PHST- 2025/05/15 00:00 [revised]
PHST- 2025/05/16 00:00 [accepted]
-PHST- 2026/05/22 00:00 [pmc-release]
PHST- 2025/08/03 12:31 [medline]
PHST- 2025/05/26 12:37 [pubmed]
PHST- 2025/05/26 06:18 [entrez]
+PHST- 2026/05/22 00:00 [pmc-release]
AID - S1098-3600(25)00109-1 [pii]
AID - 10.1016/j.gim.2025.101462 [doi]
PST - ppublish
@@ -9658,7 +9707,7 @@ PMID- 38997701
OWN - NLM
STAT- MEDLINE
DCOM- 20240712
-LR - 20260127
+LR - 20260518
IS - 1750-1172 (Electronic)
IS - 1750-1172 (Linking)
VI - 19
@@ -14109,7 +14158,7 @@ PMID- 35977823
OWN - NLM
STAT- MEDLINE
DCOM- 20220914
-LR - 20260127
+LR - 20260511
IS - 2373-2822 (Electronic)
IS - 2373-2822 (Linking)
VI - 9
@@ -14675,7 +14724,7 @@ PMID- 35701103
OWN - NLM
STAT- MEDLINE
DCOM- 20221124
-LR - 20260127
+LR - 20260508
IS - 1468-6244 (Electronic)
IS - 0022-2593 (Print)
IS - 0022-2593 (Linking)
@@ -14780,8 +14829,6 @@ AU - Sobrian SK
AD - Department of Pharmacology, Howard University College of Medicine, Washington,
District of Columbia, USA.
LA - eng
-GR - R01 NS086810/NS/NINDS NIH HHS/United States
-GR - R01 NS110100/NS/NINDS NIH HHS/United States
PT - Journal Article
PT - Research Support, Non-U.S. Gov't
DEP - 20220614
@@ -15057,7 +15104,7 @@ PMID- 35182509
OWN - NLM
STAT- MEDLINE
DCOM- 20220321
-LR - 20260127
+LR - 20260518
IS - 1474-4465 (Electronic)
IS - 1474-4422 (Print)
IS - 1474-4422 (Linking)
@@ -16298,7 +16345,7 @@ SO - J Neurodev Disord. 2022 Jan 14;14(1):7. doi: 10.1186/s11689-022-09415-3.
PMID- 34938155
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20240911
+LR - 20260521
IS - 1662-4548 (Print)
IS - 1662-453X (Electronic)
IS - 1662-453X (Linking)
@@ -16380,8 +16427,6 @@ AD - Department of Molecular Biosciences, School of Veterinary Medicine, Univer
California, Davis, Davis, CA, United States.
AD - The MIND Institute, University of California, Davis, Davis, CA, United States.
LA - eng
-GR - P30 CA093373/CA/NCI NIH HHS/United States
-GR - R01 ES029213/ES/NIEHS NIH HHS/United States
GR - T32 ES007059/ES/NIEHS NIH HHS/United States
GR - P30 ES023513/ES/NIEHS NIH HHS/United States
GR - P50 HD103526/HD/NICHD NIH HHS/United States
@@ -16518,7 +16563,7 @@ SO - Biomed Res Int. 2021 Dec 8;2021:4359308. doi: 10.1155/2021/4359308. eColle
PMID- 34924936
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20220413
+LR - 20260521
IS - 1662-4548 (Print)
IS - 1662-453X (Electronic)
IS - 1662-453X (Linking)
@@ -16591,16 +16636,9 @@ AU - Lein PJ
AD - Department of Molecular Biosciences, School of Veterinary Medicine, University of
California, Davis, Davis, CA, United States.
LA - eng
-GR - P30 CA093373/CA/NCI NIH HHS/United States
-GR - R01 ES029213/ES/NIEHS NIH HHS/United States
-GR - T32 ES007059/ES/NIEHS NIH HHS/United States
+GR - P42 ES013661/ES/NIEHS NIH HHS/United States
GR - P50 HD103526/HD/NICHD NIH HHS/United States
-GR - F32 HD088016/HD/NICHD NIH HHS/United States
-GR - R00 ES029537/ES/NIEHS NIH HHS/United States
GR - UL1 TR001860/TR/NCATS NIH HHS/United States
-GR - P30 ES023513/ES/NIEHS NIH HHS/United States
-GR - P42 ES013661/ES/NIEHS NIH HHS/United States
-GR - R01 ES014901/ES/NIEHS NIH HHS/United States
PT - Journal Article
DEP - 20211203
PL - Switzerland
@@ -18054,7 +18092,7 @@ PMID- 34372915
OWN - NLM
STAT- MEDLINE
DCOM- 20220216
-LR - 20220216
+LR - 20260518
IS - 1756-994X (Electronic)
IS - 1756-994X (Linking)
VI - 13
@@ -18576,10 +18614,13 @@ COIS- Declaration of competing interest The authors declare that they have no kn
to influence the work reported in this paper.
EDAT- 2021/07/24 06:00
MHDA- 2021/07/24 06:01
+PMCR- 2020/09/10
CRDT- 2021/07/23 06:56
PHST- 2021/07/23 06:56 [entrez]
PHST- 2021/07/24 06:00 [pubmed]
PHST- 2021/07/24 06:01 [medline]
+PHST- 2020/09/10 00:00 [pmc-release]
+AID - S2666-027X(20)30011-6 [pii]
AID - 10.1016/j.crtox.2020.09.001 [doi]
PST - ppublish
SO - Curr Res Toxicol. 2020 Jun 10;1:85-103. doi: 10.1016/j.crtox.2020.09.001. Epub
@@ -33434,7 +33475,7 @@ PMID- 27816231
OWN - NLM
STAT- MEDLINE
DCOM- 20170714
-LR - 20260127
+LR - 20260524
IS - 1556-5653 (Electronic)
IS - 0015-0282 (Print)
IS - 0015-0282 (Linking)
@@ -33500,13 +33541,13 @@ GR - R01 HD068440/HD/NICHD NIH HHS/United States
GR - U01 AG012554/AG/NIA NIH HHS/United States
GR - R01 HD067721/HD/NICHD NIH HHS/United States
GR - UL1 RR024131/RR/NCRR NIH HHS/United States
+GR - U01 AG012495/AG/NIA NIH HHS/United States
+GR - U01 AG012505/AG/NIA NIH HHS/United States
GR - U01 AG012535/AG/NIA NIH HHS/United States
GR - U01 AG012553/AG/NIA NIH HHS/United States
GR - U01 NR004061/NR/NINR NIH HHS/United States
GR - U01 AG012539/AG/NIA NIH HHS/United States
GR - U01 AG012546/AG/NIA NIH HHS/United States
-GR - U01 AG012495/AG/NIA NIH HHS/United States
-GR - U01 AG012505/AG/NIA NIH HHS/United States
GR - U01 AG012531/AG/NIA NIH HHS/United States
GR - U01 AG017719/AG/NIA NIH HHS/United States
PT - Journal Article
@@ -41116,7 +41157,7 @@ PMID- 24938362
OWN - NLM
STAT- MEDLINE
DCOM- 20150612
-LR - 20260128
+LR - 20260520
IS - 1573-7330 (Electronic)
IS - 1058-0468 (Print)
IS - 1058-0468 (Linking)
@@ -41161,7 +41202,6 @@ AU - Young SL
LA - eng
GR - R03 HD052768/HD/NICHD NIH HHS/United States
GR - HD052768/HD/NICHD NIH HHS/United States
-GR - R01 HD067721/HD/NICHD NIH HHS/United States
GR - R21 HD057485/HD/NICHD NIH HHS/United States
GR - HD068440/HD/NICHD NIH HHS/United States
GR - R01 HD068440/HD/NICHD NIH HHS/United States
@@ -45089,7 +45129,7 @@ PMID- 23602499
OWN - NLM
STAT- MEDLINE
DCOM- 20130709
-LR - 20260501
+LR - 20260514
IS - 1097-4199 (Electronic)
IS - 0896-6273 (Print)
IS - 0896-6273 (Linking)
@@ -45765,6 +45805,7 @@ STAT- PubMed-not-MEDLINE
DCOM- 20130704
LR - 20240513
IS - 2160-8288 (Print)
+IS - 2160-8288 (Electronic)
IS - 2160-8288 (Linking)
VI - 2
DP - 2012
@@ -45812,15 +45853,22 @@ OT - Parkinson
OT - neurodegeneration
OT - neurodevelopment
OT - primary ovarian insufficiency
+COIS- Competing Interests: Paul Hagerman is a non-compensated collaborator with
+ Asuragen, Inc. and with Pacific Biosciences. With Dr. Flora Tassone, he holds a
+ US patent for expanded-CGG screening. There are no other conflicts of interest to
+ report.
EDAT- 2013/02/27 06:00
MHDA- 2013/02/27 06:01
+PMCR- 2012/05/18
CRDT- 2013/02/27 06:00
PHST- 2011/09/09 00:00 [received]
PHST- 2011/12/01 00:00 [accepted]
PHST- 2013/02/27 06:00 [entrez]
PHST- 2013/02/27 06:00 [pubmed]
PHST- 2013/02/27 06:01 [medline]
+PHST- 2012/05/18 00:00 [pmc-release]
AID - tre-02-63-375-2 [pii]
+AID - tre-63-375-2 [pii]
AID - 10.7916/D80C4TH0 [doi]
PST - ppublish
SO - Tremor Other Hyperkinet Mov (N Y). 2012;2:tre-02-63-375-2. doi: 10.7916/D80C4TH0.
@@ -46981,7 +47029,7 @@ PMID- 22581803
OWN - NLM
STAT- MEDLINE
DCOM- 20130314
-LR - 20260128
+LR - 20260520
IS - 1933-7205 (Electronic)
IS - 1933-7191 (Print)
IS - 1933-7191 (Linking)
@@ -47021,8 +47069,6 @@ AU - Williams CD
FAU - Silverman, Lawrence M
AU - Silverman LM
LA - eng
-GR - R01 HD067721/HD/NICHD NIH HHS/United States
-GR - R01 HD068440/HD/NICHD NIH HHS/United States
GR - R03 HD052768/HD/NICHD NIH HHS/United States
PT - Journal Article
PT - Multicenter Study
diff --git a/data/literature/FXN_batch_01.txt b/data/literature/FXN_batch_01.txt
index 47dc2d0e..7b5dbb8f 100644
--- a/data/literature/FXN_batch_01.txt
+++ b/data/literature/FXN_batch_01.txt
@@ -1,4 +1,317 @@
+PMID- 42134333
+OWN - NLM
+STAT- Publisher
+LR - 20260514
+IS - 2666-3791 (Electronic)
+IS - 2666-3791 (Linking)
+DP - 2026 May 13
+TI - Therapeutic activity of a hematopoietic stem cell-delivered cell-penetrating
+ frataxin in Friedreich's ataxia models.
+PG - 102803
+LID - S2666-3791(26)00220-X [pii]
+LID - 10.1016/j.xcrm.2026.102803 [doi]
+AB - Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease
+ caused by a GAA repeat expansion in the frataxin (FXN) gene, leading to reduced
+ frataxin, a protein essential for mitochondrial function. We developed a
+ replacement strategy using a fusion protein containing secretion and
+ cell-penetrating sequences fused to the frataxin precursor. In vitro studies
+ confirmed secretion, cellular penetration, mitochondrial localization, and rescue
+ of biochemical defects and apoptosis in cells from patients with FRDA. The
+ therapeutic cDNA was cloned into a lentiviral vector and used to transduce
+ hematopoietic stem and progenitor cells (HSPCs) from YG8sR mice, an FRDA model.
+ Autologous transplantation of modified HSPCs produced stable peptide secretion in
+ the bloodstream and delayed the onset of motor coordination symptoms, accompanied
+ by improved biochemical and anatomical parameters. Patient-derived CD34(+) HSPCs
+ transduced with the vector differentiated normally into macrophages and secreted
+ the peptide. These results support a cell and gene therapy strategy for long-term
+ stabilization of FRDA.
+CI - Copyright (c) 2026 The Author(s). Published by Elsevier Inc. All rights reserved.
+FAU - Pido-Lopez, Jeffrey
+AU - Pido-Lopez J
+AD - Centre for Inflammation Research and Translational Medicine, Brunel, University
+ of London, London UB8 3PH, UK.
+FAU - Moula, Shefta E
+AU - Moula SE
+AD - Infection, Immunity and Inflammation Research and Teaching Department, University
+ College London, Great Ormond Street Institute of Child Health, London, UK.
+FAU - Shaban, Enas
+AU - Shaban E
+AD - Centre for Inflammation Research and Translational Medicine, Brunel, University
+ of London, London UB8 3PH, UK.
+FAU - Stamatiou, Konstantinos
+AU - Stamatiou K
+AD - Centre for Inflammation Research and Translational Medicine, Brunel, University
+ of London, London UB8 3PH, UK.
+FAU - Critchley, Bethan J
+AU - Critchley BJ
+AD - Infection, Immunity and Inflammation Research and Teaching Department, University
+ College London, Great Ormond Street Institute of Child Health, London, UK.
+FAU - Whittaker, Thomas E
+AU - Whittaker TE
+AD - Infection, Immunity and Inflammation Research and Teaching Department, University
+ College London, Great Ormond Street Institute of Child Health, London, UK.
+FAU - Svensson, Stina
+AU - Svensson S
+AD - Infection, Immunity and Inflammation Research and Teaching Department, University
+ College London, Great Ormond Street Institute of Child Health, London, UK.
+FAU - Anjomani-Virmouni, Sara
+AU - Anjomani-Virmouni S
+AD - Centre for Genome Engineering and Maintenance, College of Health, Medicine and
+ Life Sciences, Brunel, University of London, London, UK.
+FAU - Kalef-Ezra, Ester
+AU - Kalef-Ezra E
+AD - Centre for Genome Engineering and Maintenance, College of Health, Medicine and
+ Life Sciences, Brunel, University of London, London, UK.
+FAU - Carr, Lucinda
+AU - Carr L
+AD - Molecular Neurosciences, Developmental Neurosciences Programme, UCL Institute of
+ Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital
+ for Children NHS Foundation Trust, London, UK.
+FAU - Hassel, Jane
+AU - Hassel J
+AD - Molecular Neurosciences, Developmental Neurosciences Programme, UCL Institute of
+ Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital
+ for Children NHS Foundation Trust, London, UK.
+FAU - Thrasher, Adrian J
+AU - Thrasher AJ
+AD - Infection, Immunity and Inflammation Research and Teaching Department, University
+ College London, Great Ormond Street Institute of Child Health, London, UK.
+FAU - Kurian, Manju A
+AU - Kurian MA
+AD - Molecular Neurosciences, Developmental Neurosciences Programme, UCL Institute of
+ Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital
+ for Children NHS Foundation Trust, London, UK.
+FAU - Blair, Ian A
+AU - Blair IA
+AD - Department of Systems Pharmacology and Translational Therapeutics, Perelman
+ School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
+FAU - Rojsajjakul, Teerapat
+AU - Rojsajjakul T
+AD - Department of Systems Pharmacology and Translational Therapeutics, Perelman
+ School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
+FAU - Santilli, Giorgia
+AU - Santilli G
+AD - Infection, Immunity and Inflammation Research and Teaching Department, University
+ College London, Great Ormond Street Institute of Child Health, London, UK.
+ Electronic address: g.santilli@ucl.ac.uk.
+FAU - Sala, Arturo
+AU - Sala A
+AD - Centre for Inflammation Research and Translational Medicine, Brunel, University
+ of London, London UB8 3PH, UK. Electronic address: arturo.sala@brunel.ac.uk.
+LA - eng
+PT - Journal Article
+DEP - 20260513
+PL - United States
+TA - Cell Rep Med
+JT - Cell reports. Medicine
+JID - 101766894
+SB - IM
+OTO - NOTNLM
+OT - ataxia
+OT - behavioural assays
+OT - cell and gene therapy
+OT - cell-penetrating peptide
+OT - frataxin
+OT - hematopoietic stem cells
+OT - mitochondria
+OT - secretory peptide.
+OT - transplantation
+COIS- Declaration of interests The codon-optimized DNA sequence encoding the fusion
+ protein described in the manuscript has been the subject of UK Patent application
+ no. 2413430.6. A.S. and Brunel University London.
+EDAT- 2026/05/15 00:31
+MHDA- 2026/05/15 00:31
+CRDT- 2026/05/14 18:41
+PHST- 2024/11/11 00:00 [received]
+PHST- 2025/12/21 00:00 [revised]
+PHST- 2026/04/16 00:00 [accepted]
+PHST- 2026/05/15 00:31 [medline]
+PHST- 2026/05/15 00:31 [pubmed]
+PHST- 2026/05/14 18:41 [entrez]
+AID - S2666-3791(26)00220-X [pii]
+AID - 10.1016/j.xcrm.2026.102803 [doi]
+PST - aheadofprint
+SO - Cell Rep Med. 2026 May 13:102803. doi: 10.1016/j.xcrm.2026.102803.
+
+PMID- 42094143
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260525
+LR - 20260525
+DP - 2026 May 1
+TI - Genome-wide detection and clinical prioritization of tandem repeat outliers using
+ long-read sequencing.
+LID - 2026.04.30.26352103 [pii]
+LID - 10.64898/2026.04.30.26352103 [doi]
+AB - BACKGROUND: Tandem repeat expansions (TREs) cause over 60 known neurological,
+ neuromuscular, and developmental disorders. Detecting these expansions
+ genome-wide is challenging due to their size, sequence complexity (including
+ interruptions), and population variation. While long-read sequencing is an
+ emerging technology that can fully resolve many TREs, no methods have been
+ described for genome-wide identification and prioritization of candidate
+ pathogenic TREs with this technology. METHODS: Using a newly developed pipeline
+ called TRoLR (Tandem Repeat outliers identified with Long Reads), we analyzed
+ haplotype-resolved long-read genome assemblies from 471 ancestrally diverse
+ individuals to define population distributions for over three million tandem
+ repeat loci, capturing clinically relevant interruptions. Outlier expansions were
+ identified relative to these distributions and prioritized by genomic location
+ and comparison to known pathogenic loci. The framework was applied to 47 cases
+ from the Undiagnosed Diseases Network. RESULTS: Population stratification of
+ repeat metrics was observed at 7% of loci, with highest variability among
+ individuals of African ancestry. Outlier analysis confirmed known pathogenic CNBP
+ and ATXN8OS expansions, detected carrier-range alleles at RFC1, CSTB, and FXN,
+ and revealed a novel CGG expansion in the 5' UTR of PCMTD2 exhibiting
+ hypermethylation and intergenerational instability. Genome-wide screening also
+ identified intronic pentanucleotide expansions at IQCB1 and MAP3K15 in controls
+ composed of motifs that have been associated with pathogenicity at other disease
+ loci. CONCLUSIONS: Quantifying the longest uninterrupted repeat segment in
+ long-read assemblies enables detection of clinically relevant repeat expansions
+ and loss of stabilizing interruptions. This approach enhances both diagnostic
+ confirmation and discovery of candidate pathogenic expansions, with implications
+ for clinical interpretation and research into complex repeat-mediated disorders.
+FAU - Gibson, Sophia B
+AU - Gibson SB
+AUID- ORCID: 0000-0001-9839-9045
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+FAU - Damaraju, Nikhita
+AU - Damaraju N
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+AD - Institute for Public Health Genetics, University of Washington School of Public
+ Health, Seattle, WA.
+FAU - Gustafson, J Gus
+AU - Gustafson JG
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+AD - Molecular and Cellular Biology Program, University of Washington, Seattle, WA.
+FAU - Balton, Elsa V
+AU - Balton EV
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Chanprasert, Sirisak
+AU - Chanprasert S
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Glass, Ian A
+AU - Glass IA
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+FAU - Horike-Pyne, Martha
+AU - Horike-Pyne M
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Kumar, Runjun D
+AU - Kumar RD
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+FAU - Leppig, Kathleen A
+AU - Leppig KA
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Lundberg, Chris
+AU - Lundberg C
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Ranchalis, Jane
+AU - Ranchalis J
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Rosenthal, Elisabeth A
+AU - Rosenthal EA
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Solomon, Andrew K
+AU - Solomon AK
+AD - Division of Rheumatology, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Stergachis, Andrew B
+AU - Stergachis AB
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Wener, Mark
+AU - Wener M
+AD - Division of Rheumatology, Department of Medicine, University of Washington,
+ Seattle, WA.
+CN - Undiagnosed Diseases Network
+FAU - Jarvik, Gail P
+AU - Jarvik GP
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Blue, Elizabeth E
+AU - Blue EE
+AD - Institute for Public Health Genetics, University of Washington School of Public
+ Health, Seattle, WA.
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+AD - Brotman Baty Institute for Precision Medicine, University of Washington, Seattle,
+ WA.
+FAU - Dipple, Katrina M
+AU - Dipple KM
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Center for Clinical and Translational Research, Seattle Children's Research
+ Institute, Seattle, WA.
+FAU - Dashnow, Harriet
+AU - Dashnow H
+AD - Department of Biomedical Informatics, University of Colorado Anschutz, Aurora,
+ CO.
+FAU - Starita, Lea M
+AU - Starita LM
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Brotman Baty Institute for Precision Medicine, University of Washington, Seattle,
+ WA.
+FAU - Miller, Danny E
+AU - Miller DE
+AUID- ORCID: 0000-0001-6096-8601
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+AD - Brotman Baty Institute for Precision Medicine, University of Washington, Seattle,
+ WA.
+LA - eng
+PT - Journal Article
+PT - Preprint
+DEP - 20260501
+PL - United States
+TA - medRxiv
+JT - medRxiv : the preprint server for health sciences
+JID - 101767986
+PMC - PMC13142565
+OTO - NOTNLM
+OT - clinical genomics
+OT - long-read sequencing
+OT - longest pure segment
+OT - outlier detection
+OT - population reference
+OT - repeat expansion disorders
+OT - tandem repeat expansion
+EDAT- 2026/05/07 06:36
+MHDA- 2026/05/07 06:37
+PMCR- 2026/05/05
+CRDT- 2026/05/07 05:10
+PHST- 2026/05/07 06:36 [pubmed]
+PHST- 2026/05/07 06:37 [medline]
+PHST- 2026/05/07 05:10 [entrez]
+PHST- 2026/05/05 00:00 [pmc-release]
+AID - 2026.04.30.26352103 [pii]
+AID - 10.64898/2026.04.30.26352103 [doi]
+PST - epublish
+SO - medRxiv [Preprint]. 2026 May 1:2026.04.30.26352103. doi:
+ 10.64898/2026.04.30.26352103.
+
PMID- 42018061
OWN - NLM
STAT- MEDLINE
@@ -136,7 +449,7 @@ PMID- 41954755
OWN - NLM
STAT- MEDLINE
DCOM- 20260409
-LR - 20260412
+LR - 20260522
IS - 1432-1459 (Electronic)
IS - 0340-5354 (Print)
IS - 0340-5354 (Linking)
@@ -814,15 +1127,16 @@ PMID- 41432640
OWN - NLM
STAT- MEDLINE
DCOM- 20260212
-LR - 20260212
+LR - 20260513
IS - 1460-2083 (Electronic)
+IS - 0964-6906 (Print)
IS - 0964-6906 (Linking)
VI - 35
IP - 3
DP - 2026 Feb 10
TI - Unrecognized high prevalence of expanded composite repeats in Friedreich ataxia.
-LID - ddaf190 [pii]
LID - 10.1093/hmg/ddaf190 [doi]
+LID - ddaf190
AB - Many diseases are caused by pathogenic expansion of microsatellite repeats.
Longread sequencing allows evaluation of the content of such expanded repeats.
Friedreich ataxia patients are typically homozygous for an expanded GAA repeat in
@@ -899,6 +1213,7 @@ MH - Genotype
MH - Microsatellite Repeats/genetics
MH - Heterozygote
MH - Adult
+PMC - PMC13158230
OTO - NOTNLM
OT - Alu-mediated recombination
OT - Friedreich ataxia
@@ -907,6 +1222,7 @@ OT - genotyping errors
OT - proximal FXN deletion
EDAT- 2025/12/23 12:48
MHDA- 2026/02/12 12:49
+PMCR- 2025/12/23
CRDT- 2025/12/23 10:23
PHST- 2025/10/02 00:00 [received]
PHST- 2025/11/07 00:00 [revised]
@@ -914,7 +1230,9 @@ PHST- 2025/11/21 00:00 [accepted]
PHST- 2026/02/12 12:49 [medline]
PHST- 2025/12/23 12:48 [pubmed]
PHST- 2025/12/23 10:23 [entrez]
+PHST- 2025/12/23 00:00 [pmc-release]
AID - 8403045 [pii]
+AID - ddaf190 [pii]
AID - 10.1093/hmg/ddaf190 [doi]
PST - ppublish
SO - Hum Mol Genet. 2026 Feb 10;35(3):ddaf190. doi: 10.1093/hmg/ddaf190.
@@ -1678,7 +1996,7 @@ PMID- 41137390
OWN - NLM
STAT- MEDLINE
DCOM- 20260205
-LR - 20260306
+LR - 20260528
IS - 1525-0024 (Electronic)
IS - 1525-0016 (Print)
IS - 1525-0016 (Linking)
@@ -1805,15 +2123,15 @@ COIS- Declaration of interests S.E.B. and S.L.B. are scientific founders of and
for the treatment of ocular disease.
EDAT- 2025/10/25 06:30
MHDA- 2026/02/06 00:30
-PMCR- 2027/02/04
+PMCR- 2025/10/24
CRDT- 2025/10/25 01:36
PHST- 2025/06/21 00:00 [received]
PHST- 2025/09/16 00:00 [revised]
PHST- 2025/10/17 00:00 [accepted]
-PHST- 2027/02/04 00:00 [pmc-release]
PHST- 2026/02/06 00:30 [medline]
PHST- 2025/10/25 06:30 [pubmed]
PHST- 2025/10/25 01:36 [entrez]
+PHST- 2025/10/24 00:00 [pmc-release]
AID - S1525-0016(25)00869-X [pii]
AID - 10.1016/j.ymthe.2025.10.048 [doi]
PST - ppublish
@@ -4337,7 +4655,7 @@ PMID- 39571249
OWN - NLM
STAT- MEDLINE
DCOM- 20241212
-LR - 20241212
+LR - 20260506
IS - 1878-5883 (Electronic)
IS - 0022-510X (Linking)
VI - 467
@@ -4784,7 +5102,7 @@ PMID- 39324476
OWN - NLM
STAT- MEDLINE
DCOM- 20250103
-LR - 20260203
+LR - 20260529
IS - 1552-4833 (Electronic)
IS - 1552-4825 (Print)
IS - 1552-4825 (Linking)
@@ -4882,6 +5200,8 @@ GR - Spastic Paraplegia Foundation/
GR - K08NS123552-01/NS/NINDS NIH HHS/United States
PT - Case Reports
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
+PT - Research Support, Non-U.S. Gov't
DEP - 20240926
PL - United States
TA - Am J Med Genet A
@@ -8392,7 +8712,7 @@ PMID- 35182509
OWN - NLM
STAT- MEDLINE
DCOM- 20220321
-LR - 20260127
+LR - 20260518
IS - 1474-4465 (Electronic)
IS - 1474-4422 (Print)
IS - 1474-4422 (Linking)
@@ -10186,7 +10506,7 @@ PMID- 34372915
OWN - NLM
STAT- MEDLINE
DCOM- 20220216
-LR - 20220216
+LR - 20260518
IS - 1756-994X (Electronic)
IS - 1756-994X (Linking)
VI - 13
@@ -15455,7 +15775,7 @@ PMID- 30097477
OWN - NLM
STAT- MEDLINE
DCOM- 20190819
-LR - 20211204
+LR - 20260518
IS - 1526-632X (Electronic)
IS - 0028-3878 (Linking)
VI - 91
@@ -25009,6 +25329,7 @@ PST - ppublish
SO - J Child Neurol. 2012 Sep;27(9):1159-63. doi: 10.1177/0883073812448460. Epub 2012
Jun 29.
+
PMID- 22691228
OWN - NLM
STAT- MEDLINE
@@ -25184,7 +25505,6 @@ PST - ppublish
SO - Hum Mol Genet. 2012 Jul 1;21(13):2855-61. doi: 10.1093/hmg/dds110. Epub 2012 Mar
23.
-
PMID- 22414340
OWN - NLM
STAT- PubMed-not-MEDLINE
diff --git a/data/literature/GIPC1_batch_01.txt b/data/literature/GIPC1_batch_01.txt
index cf308859..0b559200 100644
--- a/data/literature/GIPC1_batch_01.txt
+++ b/data/literature/GIPC1_batch_01.txt
@@ -296,7 +296,7 @@ PMID- 41792844
OWN - NLM
STAT- MEDLINE
DCOM- 20260415
-LR - 20260423
+LR - 20260511
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
VI - 14
@@ -359,6 +359,10 @@ AD - Department of Neurology, Washington University School of Medicine, Saint L
MO, USA. weihlc@wustl.edu.
LA - eng
GR - R01 NS086810/NS/NINDS NIH HHS/United States
+GR - R01 AG031867/AG/NIA NIH HHS/United States
+GR - K24 AR073317/AR/NIAMS NIH HHS/United States
+GR - P50 HD104463/HD/NICHD NIH HHS/United States
+GR - R21 NS129096/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20260306
PL - England
@@ -515,36 +519,40 @@ SO - BMC Public Health. 2026 Jan 19;26(1):585. doi: 10.1186/s12889-026-26216-8.
PMID- 41121761
OWN - NLM
-STAT- Publisher
-LR - 20251022
+STAT- MEDLINE
+DCOM- 20260505
+LR - 20260505
IS - 1460-2156 (Electronic)
IS - 0006-8950 (Linking)
-DP - 2025 Oct 22
+VI - 149
+IP - 5
+DP - 2026 May 5
TI - Translation of GGC repeats into a toxic polyglycine protein in
oculopharyngodistal myopathy type 2.
-LID - awaf390 [pii]
+PG - 1768-1783
LID - 10.1093/brain/awaf390 [doi]
-AB - GGC repeat expansions in the 5' untranslated region (UTR) of the GIPC1 gene have
- been implicated in the pathogenesis of oculopharyngodistal myopathy type 2
- (OPDM2).To investigate the underlying mechanism, we generated a series of
- reporter constructs to confirm he translation product of GIPC1 expanded GGC
- repeats. We further developed a specific antibody targeting the predicted
- N-terminus of the predominant translation product. Its expression and toxicity
- were validated in patient-derived induced pluripotent stem cell (iPSC)-derived
- myotubes and zebrafish model. Here, we demonstrate that the expanded GGC repeats
- undergo repeat-associated non-AUG (RAN) translation in multiple reading frames,
+AB - GGC repeat expansions in the 5' untranslated region of the GIPC1 gene have been
+ implicated in the pathogenesis of oculopharyngodistal myopathy type 2 (OPDM2). To
+ investigate the underlying mechanism, we generated a series of reporter
+ constructs to confirm the translation product of GIPC1 expanded GGC repeats. We
+ also developed a specific antibody targeting the predicted N-terminus of the
+ predominant translation product. Its expression and toxicity were validated in
+ patient-derived induced pluripotent stem cell-derived myotubes and a zebrafish
+ model. Here, we demonstrate that the expanded GGC repeats undergo
+ repeat-associated non-AUG (RAN) translation in multiple reading frames,
predominantly generating a polyglycine-containing protein (uGIPC1polyG) initiated
at an upstream CTG codon. These polyG-containing proteins aggregate and form
intranuclear and cytoplasmic p62/ubiquitin-positive inclusions, which are
pathogenic hallmarks of OPDM2. The translation of GGC repeats into a polyG
- protein further causes mitochondrial dysfunction and disrupts nuclear lamina
+ protein also causes mitochondrial dysfunction and disrupts nuclear lamina
architecture, thereby inducing cytotoxicity and apoptosis in cell lines,
- including HEK293T cells, fibroblasts, and iPSC-derived myotubes from OPDM2
- patients. Additionally, the zebrafish model exhibits developmental malformation
- and compromised locomotor function, demonstrating the in vivo toxicity of
- uGIPC1polyG. These findings suggest that the translation of expanded GGC repeats
- into a toxic polyG protein might play a crucial role in the pathogenesis of
- OPDM2, highlighting uGIPC1polyG as a potential biomarker and therapeutic target.
+ including HEK293T cells, fibroblasts and induced pluripotent stem cell-derived
+ myotubes from OPDM2 patients. Additionally, the zebrafish model exhibits
+ developmental malformation and compromised locomotor function, demonstrating the
+ in vivo toxicity of uGIPC1polyG. These findings suggest that the translation of
+ expanded GGC repeats into a toxic polyG protein might play a crucial role in the
+ pathogenesis of OPDM2, highlighting uGIPC1polyG as a potential biomarker and
+ therapeutic target.
CI - (c) The Author(s) 2025. Published by Oxford University Press on behalf of the
Guarantors of Brain. All rights reserved. For commercial re-use, please contact
reprints@oup.com for reprints and translation rights for reprints. All other
@@ -554,28 +562,28 @@ CI - (c) The Author(s) 2025. Published by Oxford University Press on behalf of
FAU - Jiao, Kexin
AU - Jiao K
AUID- ORCID: 0000-0001-9526-5498
-AD - Department of Neurology and Rare Disease Center, Huashan Hospital, Fudan
- University, Shanghai, and National Center for Neurological Disorders (NCND),
- Shanghai 200040, China.
+AD - Department of Neurology, Huashan Rare Disease Center, Huashan Hospital, Fudan
+ University, Shanghai 200040, China.
+AD - National Center for Neurological Disorders (NCND), Shanghai 200040, China.
FAU - Chen, Xinyu
AU - Chen X
-AD - Department of Neurology and Rare Disease Center, Huashan Hospital, Fudan
- University, Shanghai, and National Center for Neurological Disorders (NCND),
- Shanghai 200040, China.
+AD - Department of Neurology, Huashan Rare Disease Center, Huashan Hospital, Fudan
+ University, Shanghai 200040, China.
+AD - National Center for Neurological Disorders (NCND), Shanghai 200040, China.
FAU - Cao, Mengye
AU - Cao M
AD - Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences, Shanghai
200031, China.
FAU - Zhang, Jialong
AU - Zhang J
-AD - Department of Neurology and Rare Disease Center, Huashan Hospital, Fudan
- University, Shanghai, and National Center for Neurological Disorders (NCND),
- Shanghai 200040, China.
+AD - Department of Neurology, Huashan Rare Disease Center, Huashan Hospital, Fudan
+ University, Shanghai 200040, China.
+AD - National Center for Neurological Disorders (NCND), Shanghai 200040, China.
FAU - Xia, Xingyu
AU - Xia X
-AD - Department of Neurology and Rare Disease Center, Huashan Hospital, Fudan
- University, Shanghai, and National Center for Neurological Disorders (NCND),
- Shanghai 200040, China.
+AD - Department of Neurology, Huashan Rare Disease Center, Huashan Hospital, Fudan
+ University, Shanghai 200040, China.
+AD - National Center for Neurological Disorders (NCND), Shanghai 200040, China.
FAU - Gu, Xinyu
AU - Gu X
AD - Department of Neurology, Xinhua Hospital Affiliated to Shanghai Jiao Tong
@@ -588,9 +596,9 @@ AD - State Key Laboratory of Genetic Engineering, Collaborative Innovation Cent
Fudan University, Shanghai 200433, China.
FAU - Zhong, Huahua
AU - Zhong H
-AD - Department of Neurology and Rare Disease Center, Huashan Hospital, Fudan
- University, Shanghai, and National Center for Neurological Disorders (NCND),
- Shanghai 200040, China.
+AD - Department of Neurology, Huashan Rare Disease Center, Huashan Hospital, Fudan
+ University, Shanghai 200040, China.
+AD - National Center for Neurological Disorders (NCND), Shanghai 200040, China.
FAU - Yue, Dongyue
AU - Yue D
AD - Department of Neurology, Jing'an District Center Hospital of Shanghai, Shanghai
@@ -601,81 +609,112 @@ AD - Department of Pathology, Huashan Hospital, Fudan University, Shanghai 2000
China.
FAU - Cheng, Nachuan
AU - Cheng N
-AD - Department of Neurology and Rare Disease Center, Huashan Hospital, Fudan
- University, Shanghai, and National Center for Neurological Disorders (NCND),
- Shanghai 200040, China.
+AD - Department of Neurology, Huashan Rare Disease Center, Huashan Hospital, Fudan
+ University, Shanghai 200040, China.
+AD - National Center for Neurological Disorders (NCND), Shanghai 200040, China.
FAU - Luo, Sushan
AU - Luo S
-AD - Department of Neurology and Rare Disease Center, Huashan Hospital, Fudan
- University, Shanghai, and National Center for Neurological Disorders (NCND),
- Shanghai 200040, China.
+AD - Department of Neurology, Huashan Rare Disease Center, Huashan Hospital, Fudan
+ University, Shanghai 200040, China.
+AD - National Center for Neurological Disorders (NCND), Shanghai 200040, China.
FAU - Yu, Wenbo
AU - Yu W
-AD - Department of Neurology and Rare Disease Center, Huashan Hospital, Fudan
- University, Shanghai, and National Center for Neurological Disorders (NCND),
- Shanghai 200040, China.
+AD - Department of Neurology, Huashan Rare Disease Center, Huashan Hospital, Fudan
+ University, Shanghai 200040, China.
+AD - National Center for Neurological Disorders (NCND), Shanghai 200040, China.
FAU - Pan, Weijun
AU - Pan W
AD - Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences, Shanghai
200031, China.
FAU - Zhao, Chongbo
AU - Zhao C
-AD - Department of Neurology and Rare Disease Center, Huashan Hospital, Fudan
- University, Shanghai, and National Center for Neurological Disorders (NCND),
- Shanghai 200040, China.
+AD - Department of Neurology, Huashan Rare Disease Center, Huashan Hospital, Fudan
+ University, Shanghai 200040, China.
+AD - National Center for Neurological Disorders (NCND), Shanghai 200040, China.
FAU - Wang, Tao
AU - Wang T
-AD - Department of Anesthesiology, Zhongshan Hospital, Institute for Translational
- Brain Research, State Key Laboratory of Medical Neurobiology, MOE Frontiers
- Center for Brain Science, MOE Innovative Center for New Drug Development of
- Immune Inflammatory Diseases, Fudan University, Shanghai, 200032, China.
+AD - Department of Anesthesiology, Zhongshan Hospital, Shanghai 200032, China.
+AD - Institute for Translational Brain Research, State Key Laboratory of Medical
+ Neurobiology, MOE Frontiers Center for Brain Science, MOE Innovative Center for
+ New Drug Development of Immune Inflammatory Diseases, Fudan University, Shanghai
+ 200032, China.
FAU - Zhu, Wenhua
AU - Zhu W
AUID- ORCID: 0000-0001-8011-0274
-AD - Department of Neurology and Rare Disease Center, Huashan Hospital, Fudan
- University, Shanghai, and National Center for Neurological Disorders (NCND),
- Shanghai 200040, China.
+AD - Department of Neurology, Huashan Rare Disease Center, Huashan Hospital, Fudan
+ University, Shanghai 200040, China.
+AD - National Center for Neurological Disorders (NCND), Shanghai 200040, China.
FAU - Xi, Jianying
AU - Xi J
-AD - Department of Neurology and Rare Disease Center, Huashan Hospital, Fudan
- University, Shanghai, and National Center for Neurological Disorders (NCND),
- Shanghai 200040, China.
+AUID- ORCID: 0000-0003-1028-3801
+AD - Department of Neurology, Huashan Rare Disease Center, Huashan Hospital, Fudan
+ University, Shanghai 200040, China.
+AD - National Center for Neurological Disorders (NCND), Shanghai 200040, China.
LA - eng
+GR - 82171398/National Natural Science Foundation of China/
+GR - 82271437/National Natural Science Foundation of China/
+GR - 32350006/National Natural Science Foundation of China/
+GR - STI2030-Major Projects-2022ZD0212600/National Science and Technology Innovation
+ 2030 Major Projects of China/
+GR - Clinical Research Project Supported by Huashan Hospital/
+GR - YN-013/Fudan University/
+GR - 2024YFC3406700/National Key R&D Program of China/
+GR - 2024YFC3406705/National Key R&D Program of China/
+GR - Shanghai Pilot Program for Basic Research-Chinese Academy of Sciences/
+GR - JCYJ-SHFY-2022-006/Shanghai Branch/
PT - Journal Article
-DEP - 20251022
PL - England
TA - Brain
JT - Brain : a journal of neurology
JID - 0372537
+RN - 0 (Peptides)
+RN - 25718-94-9 (polyglycine)
SB - IM
+MH - Animals
+MH - Zebrafish
+MH - Humans
+MH - HEK293 Cells
+MH - *Peptides/genetics/metabolism
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - *Protein Biosynthesis/genetics
+MH - Induced Pluripotent Stem Cells
+MH - Disease Models, Animal
+MH - Muscle Fibers, Skeletal/metabolism
OTO - NOTNLM
-OT - GIPC1; polyG protein
+OT - GIPC1
OT - oculopharyngodistal myopathy
+OT - polyG protein
OT - repeat-associated non-AUG translation
EDAT- 2025/10/22 06:33
-MHDA- 2025/10/22 06:33
+MHDA- 2026/05/05 12:39
CRDT- 2025/10/22 02:43
PHST- 2025/02/20 00:00 [received]
PHST- 2025/08/29 00:00 [revised]
-PHST- 2025/10/22 06:33 [medline]
+PHST- 2025/09/23 00:00 [accepted]
+PHST- 2026/05/05 12:39 [medline]
PHST- 2025/10/22 06:33 [pubmed]
PHST- 2025/10/22 02:43 [entrez]
AID - 8295738 [pii]
AID - 10.1093/brain/awaf390 [doi]
-PST - aheadofprint
-SO - Brain. 2025 Oct 22:awaf390. doi: 10.1093/brain/awaf390.
+PST - ppublish
+SO - Brain. 2026 May 5;149(5):1768-1783. doi: 10.1093/brain/awaf390.
PMID- 40645757
OWN - NLM
-STAT- Publisher
-LR - 20250711
+STAT- MEDLINE
+DCOM- 20260514
+LR - 20260530
IS - 1468-330X (Electronic)
+IS - 0022-3050 (Print)
IS - 0022-3050 (Linking)
-DP - 2025 Jul 11
+VI - 97
+IP - 6
+DP - 2026 May 14
TI - CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000
Genomes Project.
-LID - jnnp-2025-336590 [pii]
+PG - 479-482
LID - 10.1136/jnnp-2025-336590 [doi]
+LID - e336590
AB - BACKGROUND: CGG expansions in NOTCH2NLC and LRP12 were recently identified as a
cause of Charcot-Marie-Tooth disease (CMT) in 1.2%-10.6% of genetically
undiagnosed patients in China, Taiwan and Japan. However, their relevance in CMT
@@ -697,7 +736,7 @@ AB - BACKGROUND: CGG expansions in NOTCH2NLC and LRP12 were recently identified
non-pathogenic intermediate alleles of NOTCH2NLC and LRP12 in East Asians could
explain their ancestry-specific propensity to further expand into the full
pathogenic range.
-CI - (c) Author(s) (or their employer(s)) 2025. Re-use permitted under CC BY. Published
+CI - (c) Author(s) (or their employer(s)) 2026. Re-use permitted under CC BY. Published
by BMJ Group.
FAU - Bertini, Alessandro
AU - Bertini A
@@ -760,29 +799,47 @@ AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurol
London, UK andrea.cortese@ucl.ac.uk.
LA - eng
PT - Journal Article
-DEP - 20250711
+DEP - 20260514
PL - England
TA - J Neurol Neurosurg Psychiatry
JT - Journal of neurology, neurosurgery, and psychiatry
JID - 2985191R
+RN - 0 (NOTCH2NLC protein, human)
+RN - 0 (LDL-Receptor Related Proteins)
+RN - 0 (Nerve Tissue Proteins)
+RN - 0 (Intercellular Signaling Peptides and Proteins)
SB - IM
+MH - Humans
+MH - *Charcot-Marie-Tooth Disease/genetics
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Male
+MH - Female
+MH - Whole Genome Sequencing
+MH - LDL-Receptor Related Proteins/genetics
+MH - Adult
+MH - Asian People/genetics
+MH - Nerve Tissue Proteins
+MH - Intercellular Signaling Peptides and Proteins
+PMC - PMC13217079
OTO - NOTNLM
OT - NEUROGENETICS
OT - NEUROMUSCULAR
OT - NEUROPATHY
COIS- Competing interests: None declared.
EDAT- 2025/07/12 16:44
-MHDA- 2025/07/12 16:44
+MHDA- 2026/05/15 00:31
+PMCR- 2026/05/28
CRDT- 2025/07/11 21:13
PHST- 2025/04/24 00:00 [received]
PHST- 2025/06/11 00:00 [accepted]
-PHST- 2025/07/12 16:44 [medline]
+PHST- 2026/05/15 00:31 [medline]
PHST- 2025/07/12 16:44 [pubmed]
PHST- 2025/07/11 21:13 [entrez]
+PHST- 2026/05/28 00:00 [pmc-release]
AID - jnnp-2025-336590 [pii]
AID - 10.1136/jnnp-2025-336590 [doi]
-PST - aheadofprint
-SO - J Neurol Neurosurg Psychiatry. 2025 Jul 11:jnnp-2025-336590. doi:
+PST - epublish
+SO - J Neurol Neurosurg Psychiatry. 2026 May 14;97(6):479-482. doi:
10.1136/jnnp-2025-336590.
PMID- 40084170
diff --git a/data/literature/GLS_batch_01.txt b/data/literature/GLS_batch_01.txt
index 201deeca..0fd9969b 100644
--- a/data/literature/GLS_batch_01.txt
+++ b/data/literature/GLS_batch_01.txt
@@ -288,7 +288,7 @@ PMID- 40417743
OWN - NLM
STAT- MEDLINE
DCOM- 20250803
-LR - 20260416
+LR - 20260523
IS - 1530-0366 (Electronic)
IS - 1098-3600 (Print)
IS - 1098-3600 (Linking)
@@ -413,10 +413,12 @@ AD - Dr John T. Macdonald Foundation Department of Human Genetics and John P. H
Institute for Human Genetics, University of Miami Miller School of Medicine,
Miami, FL. Electronic address: szuchner@med.miami.edu.
LA - eng
-GR - K99 HG012796/HG/NHGRI NIH HHS/United States
GR - R00 HG012796/HG/NHGRI NIH HHS/United States
-GR - RC2 TR004391/TR/NCATS NIH HHS/United States
GR - U01 NS134353/NS/NINDS NIH HHS/United States
+GR - U01 HG007672/HG/NHGRI NIH HHS/United States
+GR - RC2 TR004391/TR/NCATS NIH HHS/United States
+GR - K99 HG012796/HG/NHGRI NIH HHS/United States
+GR - U01 NS134350/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20250522
PL - United States
@@ -1086,10 +1088,10 @@ CRDT- 2025/05/26 06:18
PHST- 2024/08/07 00:00 [received]
PHST- 2025/05/15 00:00 [revised]
PHST- 2025/05/16 00:00 [accepted]
-PHST- 2026/05/22 00:00 [pmc-release]
PHST- 2025/08/03 12:31 [medline]
PHST- 2025/05/26 12:37 [pubmed]
PHST- 2025/05/26 06:18 [entrez]
+PHST- 2026/05/22 00:00 [pmc-release]
AID - S1098-3600(25)00109-1 [pii]
AID - 10.1016/j.gim.2025.101462 [doi]
PST - ppublish
diff --git a/data/literature/GOLGA8A_batch_01.txt b/data/literature/GOLGA8A_batch_01.txt
new file mode 100644
index 00000000..65158eb4
--- /dev/null
+++ b/data/literature/GOLGA8A_batch_01.txt
@@ -0,0 +1,714 @@
+
+PMID- 41820575
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260415
+LR - 20260418
+IS - 1546-1718 (Electronic)
+IS - 1061-4036 (Print)
+IS - 1061-4036 (Linking)
+VI - 58
+IP - 4
+DP - 2026 Apr
+TI - A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal
+ lobar degeneration with ubiquitin-positive inclusions.
+PG - 726-736
+LID - 10.1038/s41588-026-02537-7 [doi]
+AB - Atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions
+ (aFTLD-U) is neuropathologically characterized by aggregation of the FET family
+ of proteins and clinically manifests as sporadic young-onset frontotemporal
+ dementia. Here we describe a major risk locus on chr15q14 identified through a
+ genome-wide association study in 59 pathologically confirmed aFTLD-U cases and
+ 3,153 controls (lead single nucleotide polymorphism rs549846383,
+ P = 5.85 x 10(-21), odds ratio 26.7). When combined with data from 28 additional
+ aFTLD-U cases, 3,712 controls and 3,215 individuals with other neurodegenerative
+ diseases and by leveraging in-house and public long-read genome sequencing data
+ from 1,715 individuals, we identified a tandem repeat expansion on the associated
+ haplotypes in an intron of GOLGA8A. We found variation in repeat length, motif
+ length, and motif sequence, with long CT-dimer expansions strongly associated
+ with aFTLD-U. Although the functional consequence of this repeat remains unknown,
+ its presence in nearly 60% of aFTLD-U cases points to a fundamental role in
+ disease pathogenesis.
+CI - (c) 2026. The Author(s).
+FAU - De Coster, Wouter
+AU - De Coster W
+AUID- ORCID: 0000-0002-5248-8197
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+AD - VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
+FAU - Van den Broeck, Marleen
+AU - Van den Broeck M
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+AD - VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
+FAU - Baker, Matt
+AU - Baker M
+AUID- ORCID: 0009-0001-2691-5757
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
+FAU - Ghayal, Nikhil B
+AU - Ghayal NB
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
+FAU - Wynants, Sarah
+AU - Wynants S
+AUID- ORCID: 0000-0003-2376-6722
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+AD - VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
+FAU - Batzler, Anthony
+AU - Batzler A
+AD - Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
+FAU - Pottier, Cyril
+AU - Pottier C
+AUID- ORCID: 0000-0002-3049-9346
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+AD - VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
+AD - Department of Neurology, Washington University School of Medicine, St. Louis, MO,
+ USA.
+AD - NeuroGenomics and Informatics Center, Washington University School of Medicine,
+ St. Louis, MO, USA.
+FAU - Alidadiani, Sara
+AU - Alidadiani S
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+AD - VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
+FAU - Kucukali, Fahri
+AU - Kucukali F
+AUID- ORCID: 0000-0002-3835-9639
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+AD - VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
+FAU - Jenkins, Gregory D
+AU - Jenkins GD
+AUID- ORCID: 0000-0001-6408-6227
+AD - Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
+FAU - Policarpo, Rafaela
+AU - Policarpo R
+AUID- ORCID: 0000-0003-0625-1487
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+AD - VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
+FAU - van Blitterswijk, Marka
+AU - van Blitterswijk M
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
+FAU - DeJesus-Hernandez, Mariely
+AU - DeJesus-Hernandez M
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
+FAU - Soto-Beasley, Alexandra I
+AU - Soto-Beasley AI
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
+FAU - Faura, Julia
+AU - Faura J
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+AD - VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
+FAU - Coopman, Elise
+AU - Coopman E
+AUID- ORCID: 0000-0001-8661-1053
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+AD - VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
+FAU - Hutten, Saskia
+AU - Hutten S
+AD - Biocenter, Institute of Molecular Physiology, Johannes Gutenberg-Universitat,
+ Mainz, Germany.
+FAU - Mol, Merel O
+AU - Mol MO
+AUID- ORCID: 0000-0003-2533-2530
+AD - Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the
+ Netherlands.
+FAU - Wallon, David
+AU - Wallon D
+AUID- ORCID: 0000-0002-2634-7198
+AD - Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Neurology and
+ CNRMAJ, Rouen, France.
+FAU - Sieben, Anne
+AU - Sieben A
+AD - Laboratory of Neurology, Translational Neuroscieces, Faculty of Medicine and
+ Health Sciences, University of Antwerp, Antwerp, Belgium.
+AD - Neuropathology lab, IBB-NeuroBiobank BB1901113, Born Bunge Institute, Antwerp,
+ Belgium.
+AD - Department of Pathology, Antwerp University Hospital - UZA, Antwerp, Belgium.
+FAU - Finger, Elizabeth C
+AU - Finger EC
+AD - Department of Clinical Neurological Sciences, Schulich School of Medicine and
+ Dentistry, University of Western Ontario, London, Ontario, Canada.
+FAU - Murray, Melissa E
+AU - Murray ME
+AUID- ORCID: 0000-0001-7379-2545
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
+AD - Department of Laboratory Medicine and Pathology, Mayo Clinic, Jacksonville, FL,
+ USA.
+FAU - Forrest, Shelley L
+AU - Forrest SL
+AD - Laboratory Medicine Program & Krembil Brain Institute, University Health Network,
+ Toronto, Ontario, Canada.
+AD - Tanz Centre for Research in Neurodegenerative Disease, University of Toronto,
+ Toronto, Ontario, Canada.
+FAU - Tartaglia, Maria C
+AU - Tartaglia MC
+AUID- ORCID: 0000-0002-5944-8497
+AD - Tanz Centre for Research in Neurodegenerative Disease, University of Toronto,
+ Toronto, Ontario, Canada.
+AD - University Health Network Memory Clinic, Krembil Brain Institute, Toronto,
+ Ontario, Canada.
+FAU - Troakes, Claire
+AU - Troakes C
+AUID- ORCID: 0000-0002-1790-7376
+AD - London Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical
+ Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College
+ London, London, UK.
+FAU - van Rooij, Jeroen G J
+AU - van Rooij JGJ
+AUID- ORCID: 0000-0001-9754-073X
+AD - Department of Neurology, Erasmus Medical Center, Rotterdam, the Netherlands.
+FAU - Nguyen, Aivi T
+AU - Nguyen AT
+AD - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
+FAU - Reichard, R Ross
+AU - Reichard RR
+AD - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
+FAU - Woodman, Natalie L
+AU - Woodman NL
+AD - Queens Square Brain Bank, Institute of Neurology, UCL, London, UK.
+FAU - Nana, Alissa L
+AU - Nana AL
+AUID- ORCID: 0000-0003-3474-8044
+AD - Department of Neurology, UCSF Weill Institute for Neurosciences, University of
+ California, San Francisco, San Francisco, CA, USA.
+FAU - Weintraub, Sandra
+AU - Weintraub S
+AUID- ORCID: 0000-0003-2605-5205
+AD - Mesulam Institute for Cognitive Neurology and Alzheimer's Disease, Northwestern
+ University, Chicago, IL, USA.
+FAU - Gefen, Tamar
+AU - Gefen T
+AD - Mesulam Institute for Cognitive Neurology and Alzheimer's Disease, Northwestern
+ University, Chicago, IL, USA.
+FAU - De Vil, Bart
+AU - De Vil B
+AUID- ORCID: 0000-0003-1924-2029
+AD - Laboratory of Neurology, Translational Neuroscieces, Faculty of Medicine and
+ Health Sciences, University of Antwerp, Antwerp, Belgium.
+AD - Neuropathology lab, IBB-NeuroBiobank BB1901113, Born Bunge Institute, Antwerp,
+ Belgium.
+AD - Department of Neurology, Antwerp University Hospital - UZA, Antwerp, Belgium.
+FAU - Bodi, Istvan
+AU - Bodi I
+AD - London Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical
+ Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College
+ London, London, UK.
+AD - Department of Clinical Neuropathology, King's College Hospital NHS Foundation
+ Trust, London, UK.
+FAU - Lopez, Oscar L
+AU - Lopez OL
+AUID- ORCID: 0000-0002-8546-8256
+AD - Department of Neurology, University of Pittsburgh, Pittsburgh, PA, USA.
+FAU - Boluda, Susana
+AU - Boluda S
+AUID- ORCID: 0000-0002-8045-2706
+AD - Sorbonne University, APHP, Department of Neuropathology, DMU-Neuroscience,
+ University Hospital Pitie-Salpetriere, Institut du Cerveau - Paris Brain
+ Institute - ICM, Inserm U1127, Paris, France.
+FAU - Belliard, Serge
+AU - Belliard S
+AD - Normandie Univ, Unicaen, PSL Research University, EPHE, Inserm U1077, CHU de
+ Caen, Neuropsychologie et Imagerie de la Memoire Humaine, and service de
+ Neurologie, CMRR Haute Bretagne, Chu Pontchaillou, Rennes, France.
+FAU - Lebert, Florence
+AU - Lebert F
+AD - Memory center, Department of Neurology, Lille University Hospital, Lille, France.
+FAU - Marguet, Florent
+AU - Marguet F
+AD - Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Pathology and
+ Laboratoire d'Anatomie Pathologique, Rouen, France.
+FAU - Mao, Qinwen
+AU - Mao Q
+AD - Department of Pathology, University of Utah, Salt Lake City, UT, USA.
+FAU - Mesulam, Marsel M
+AU - Mesulam MM
+AUID- ORCID: 0000-0001-5731-851X
+AD - Mesulam Institute for Cognitive Neurology and Alzheimer's Disease, Northwestern
+ University, Chicago, IL, USA.
+FAU - Boxer, Adam L
+AU - Boxer AL
+AUID- ORCID: 0000-0002-1215-5064
+AD - Department of Neurology, UCSF Weill Institute for Neurosciences, University of
+ California, San Francisco, San Francisco, CA, USA.
+FAU - Vandenbulcke, Mathieu
+AU - Vandenbulcke M
+AD - Department of Geriatric Psychiatry, University Hospitals Leuven (UZ Leuven),
+ Leuven, Belgium.
+AD - Neuropsychiatry, Department of Neurosciences, Leuven Brain Institute, KU Leuven,
+ Leuven, Belgium.
+FAU - Suh, EunRan
+AU - Suh E
+AD - Department of Pathology and Laboratory Medicine, Perelman School of Medicine at
+ the University of Pennsylvania, Philadelphia, PA, USA.
+FAU - Schaeverbeke, Jolien
+AU - Schaeverbeke J
+AD - Laboratory for Cognitive Neurology, Department of Neurosciences, Leuven Brain
+ Institute, KU Leuven, Leuven, Belgium.
+AD - Laboratory of Neuropathology, Department of Imaging and Pathology, Leuven Brain
+ Institute, KU Leuven, Leuven, Belgium.
+FAU - Lambert, Jean-Charles
+AU - Lambert JC
+AUID- ORCID: 0000-0003-0829-7817
+AD - Univ. Lille, Inserm, CHU Lille, U1167-RID-AGE facteurs de risque et determinants
+ moleculaires des maladies lies au vieillissement, Institut Pasteur de Lille,
+ Lille, France.
+FAU - Scholz, Sonja W
+AU - Scholz SW
+AUID- ORCID: 0000-0002-6623-0429
+AD - Neurodegenerative Diseases Research Section, National Institute of Neurological
+ Disorders and Stroke, Bethesda, MD, USA.
+AD - Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD,
+ USA.
+FAU - Dalgard, Clifton L
+AU - Dalgard CL
+AUID- ORCID: 0000-0003-2025-8239
+AD - Department of Anatomy, Physiology and Genetics, Uniformed Services University of
+ the Health Sciences, Bethesda, MD, USA.
+FAU - Traynor, Bryan J
+AU - Traynor BJ
+AD - Neuromuscular Diseases Research Section, National Institute on Aging, Bethesda,
+ MD, USA.
+FAU - Gibbs, Raphael J
+AU - Gibbs RJ
+AUID- ORCID: 0000-0002-6985-0658
+AD - Computational Biology Group, Laboratory of Neurogenetics, National Institute on
+ Aging, Bethesda, MD, USA.
+FAU - Schellenberg, Gerard D
+AU - Schellenberg GD
+AD - Department of Pathology and Laboratory Medicine, Perelman School of Medicine at
+ the University of Pennsylvania, Philadelphia, PA, USA.
+FAU - Dormann, Dorothee
+AU - Dormann D
+AUID- ORCID: 0000-0002-9260-2775
+AD - Biocenter, Institute of Molecular Physiology, Johannes Gutenberg-Universitat,
+ Mainz, Germany.
+AD - Institute for Molecular Biology, Mainz, Germany.
+FAU - Joris, Geert
+AU - Joris G
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+AD - VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
+FAU - De Pooter, Tim
+AU - De Pooter T
+AUID- ORCID: 0000-0002-1097-5464
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+AD - VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
+FAU - De Rijk, Peter
+AU - De Rijk P
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+AD - VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
+FAU - D'Hert, Svenn
+AU - D'Hert S
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+AD - VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
+FAU - Van Dongen, Jasper
+AU - Van Dongen J
+AUID- ORCID: 0000-0001-5599-0046
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+AD - VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
+FAU - van der Zee, Julie
+AU - van der Zee J
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+AD - VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
+FAU - Strazisar, Mojca
+AU - Strazisar M
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+AD - VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
+FAU - Gearing, Marla
+AU - Gearing M
+AD - Department of Pathology and Laboratory Medicine and Department of Neurology,
+ Emory University, Atlanta, GA, USA.
+FAU - Kukar, Thomas
+AU - Kukar T
+AUID- ORCID: 0000-0002-3750-6262
+AD - Department of Pharmacology and Chemical Biology, Emory University, Atlanta, GA,
+ USA.
+FAU - Flanagan, Margaret
+AU - Flanagan M
+AD - University of Texas Health Science Center San Antonio, San Antonio, TX, USA.
+FAU - Engelborghs, Sebastiaan
+AU - Engelborghs S
+AUID- ORCID: 0000-0003-0304-9785
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+AD - Department of Neurology, Universitair Ziekenhuis Brussel (UZ Brussel), Brussels,
+ Belgium.
+AD - NEUR Research Group, Center for Neurosciences (C4N), Vrije Universiteit Brussel,
+ Brussels, Belgium.
+FAU - Ghetti, Bernardino
+AU - Ghetti B
+AUID- ORCID: 0000-0002-1842-8019
+AD - Department of Pathology and Laboratory Medicine, Indiana University School of
+ Medicine, Indianapolis, IN, USA.
+FAU - Newell, Kathy L
+AU - Newell KL
+AUID- ORCID: 0000-0002-1648-7357
+AD - Department of Pathology and Laboratory Medicine, Indiana University School of
+ Medicine, Indianapolis, IN, USA.
+FAU - King, Andrew
+AU - King A
+AD - London Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical
+ Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College
+ London, London, UK.
+AD - Department of Clinical Neuropathology, King's College Hospital NHS Foundation
+ Trust, London, UK.
+FAU - Roeber, Sigrun
+AU - Roeber S
+AD - Centre for Neuropathology and Prion Research, Ludwig-Maximilians-University of
+ Munich, Munich, Germany.
+FAU - Rosen, Howard J
+AU - Rosen HJ
+AD - Department of Pathology, UCSF Weill Institute for Neurosciences, University of
+ California, San Francisco, San Francisco, CA, USA.
+FAU - Spina, Salvatore
+AU - Spina S
+AUID- ORCID: 0000-0003-3570-9143
+AD - Department of Neurology, UCSF Weill Institute for Neurosciences, University of
+ California, San Francisco, San Francisco, CA, USA.
+FAU - Cras, Patrick
+AU - Cras P
+AUID- ORCID: 0000-0002-7265-7429
+AD - Neuropathology lab, IBB-NeuroBiobank BB1901113, Born Bunge Institute, Antwerp,
+ Belgium.
+AD - Department of Neurology, Antwerp University Hospital - UZA, Antwerp, Belgium.
+FAU - Ertekin-Taner, Nilufer
+AU - Ertekin-Taner N
+AUID- ORCID: 0000-0003-4436-8889
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
+AD - Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
+FAU - Wszolek, Zbigniew K
+AU - Wszolek ZK
+AUID- ORCID: 0000-0001-5487-1053
+AD - Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
+FAU - Uitti, Ryan J
+AU - Uitti RJ
+AD - Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
+FAU - Cheshire, William P
+AU - Cheshire WP
+AD - Department of Neurology, Division of Autonomic Neurology, Mayo Clinic,
+ Jacksonville, FL, USA.
+FAU - Singer, Wolfgang
+AU - Singer W
+AUID- ORCID: 0000-0003-1263-6850
+AD - Department of Neurology, Mayo Clinic, Rochester, MN, USA.
+FAU - Herms, Jochen
+AU - Herms J
+AUID- ORCID: 0000-0002-6201-1042
+AD - Centre for Neuropathology and Prion Research, Ludwig-Maximilians-University of
+ Munich, Munich, Germany.
+AD - German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
+FAU - Josephs, Keith A
+AU - Josephs KA
+AUID- ORCID: 0000-0003-2930-8634
+AD - Department of Neurology, Mayo Clinic, Rochester, MN, USA.
+FAU - Whitwell, Jennifer L
+AU - Whitwell JL
+AD - Department of Radiology, Mayo Clinic, Rochester, MN, USA.
+FAU - Petersen, Ronald C
+AU - Petersen RC
+AUID- ORCID: 0000-0002-8178-6601
+AD - Department of Neurology, Mayo Clinic, Rochester, MN, USA.
+FAU - Pasquier, Florence
+AU - Pasquier F
+AD - Univ. Lille, Inserm, CHU Lille, LilNCog-Lille Neuroscience and Cognition, Lille,
+ France.
+FAU - Nicolas, Gael
+AU - Nicolas G
+AUID- ORCID: 0000-0001-9391-7800
+AD - Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and
+ CNR-MAJ, Rouen, France.
+FAU - Castellani, Rudolph
+AU - Castellani R
+AD - Department of Pathology, Feinberg School of Medicine, Northwestern University,
+ Chicago, IL, USA.
+FAU - Glass, Jonathan
+AU - Glass J
+AUID- ORCID: 0000-0002-3295-4971
+AD - Department of Pathology and Laboratory Medicine and Department of Neurology,
+ Emory University, Atlanta, GA, USA.
+FAU - Miller, Bruce L
+AU - Miller BL
+AD - Department of Neurology, UCSF Weill Institute for Neurosciences, University of
+ California, San Francisco, San Francisco, CA, USA.
+FAU - Kovacs, Gabor G
+AU - Kovacs GG
+AUID- ORCID: 0000-0003-3841-5511
+AD - Laboratory Medicine Program & Krembil Brain Institute, University Health Network,
+ Toronto, Ontario, Canada.
+AD - Tanz Centre for Research in Neurodegenerative Disease, University of Toronto,
+ Toronto, Ontario, Canada.
+AD - Department of Laboratory Medicine and Pathobiology and Department of Medicine,
+ University of Toronto, Toronto, Ontario, Canada.
+AD - Edmond J. Safra Program in Parkinson's Disease, Rossy PSP Centre and the Morton
+ and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto,
+ Ontario, Canada.
+FAU - Rissman, Robert A
+AU - Rissman RA
+AD - Department of Physiology and Neuroscience, Alzheimer's Therapeutic Research
+ Institute, Keck School of Medicine of the University of Southern California, San
+ Diego, CA, USA.
+FAU - Hiniker, Annie
+AU - Hiniker A
+AD - Department of Pathology, University of Southern California, Los Angeles, CA, USA.
+FAU - Deramecourt, Vincent
+AU - Deramecourt V
+AD - Univ. Lille, Inserm, CHU Lille, LilNCog-Lille Neuroscience and Cognition, Lille,
+ France.
+FAU - Ang, Lee-Cyn
+AU - Ang LC
+AD - Department of Pathology and Laboratory Medicine, University of Western Ontario,
+ London, Ontario, Canada.
+AD - Department of Pathology, London Health Sciences Center, Western University,
+ London, Ontario, Canada.
+FAU - Lee-Way, Jin
+AU - Lee-Way J
+AD - Department of Pathology, University of California Davis Medical Center,
+ Sacramento, CA, USA.
+FAU - Van Deerlin, Vivianna M
+AU - Van Deerlin VM
+AUID- ORCID: 0000-0002-7400-9097
+AD - Department of Pathology and Laboratory Medicine, Perelman School of Medicine at
+ the University of Pennsylvania, Philadelphia, PA, USA.
+FAU - Dugger, Brittany N
+AU - Dugger BN
+AUID- ORCID: 0000-0003-2141-8855
+AD - Department of Pathology, University of California Davis Medical Center,
+ Sacramento, CA, USA.
+FAU - Thal, Dietmar R
+AU - Thal DR
+AUID- ORCID: 0000-0002-1036-1075
+AD - Laboratory of Neuropathology, Department of Imaging and Pathology, Leuven Brain
+ Institute, KU Leuven, Leuven, Belgium.
+AD - Department of Pathology, University Hospital Leuven (UZ Leuven), Leuven, Belgium.
+FAU - Grinberg, Lea T
+AU - Grinberg LT
+AUID- ORCID: 0000-0002-6809-0618
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
+AD - Department of Laboratory Medicine and Pathology, Mayo Clinic, Jacksonville, FL,
+ USA.
+FAU - Cruchaga, Carlos
+AU - Cruchaga C
+AUID- ORCID: 0000-0002-0276-2899
+AD - Department of Psychiatry, Knight Alzheimer Disease Research Center, Washington
+ University School of Medicine, St. Louis, MO, USA.
+FAU - Arzberger, Thomas
+AU - Arzberger T
+AD - Centre for Neuropathology and Prion Research, Ludwig-Maximilians-University of
+ Munich, Munich, Germany.
+AD - Department of Psychiatry and Psychotherapy, University Hospital,
+ Ludwig-Maximilians-University of Munich, Munich, Germany.
+FAU - Munoz, David G
+AU - Munoz DG
+AD - St. Michael's Hospital, Toronto, Ontario, Canada.
+AD - Department of Laboratory Medicine and Pathobiology, University of Toronto,
+ Toronto, Ontario, Canada.
+FAU - Keith, Julia
+AU - Keith J
+AD - Department of Laboratory Medicine and Pathobiology, University of Toronto,
+ Toronto, Ontario, Canada.
+AD - Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada.
+FAU - Zinman, Lorne
+AU - Zinman L
+AD - Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada.
+FAU - Rogaeva, Ekaterina
+AU - Rogaeva E
+AUID- ORCID: 0000-0002-2852-0329
+AD - Tanz Centre for Research in Neurodegenerative Disease, University of Toronto,
+ Toronto, Ontario, Canada.
+FAU - Lee, Edward B
+AU - Lee EB
+AUID- ORCID: 0000-0002-4589-1180
+AD - Department of Pathology and Laboratory Medicine, Perelman School of Medicine at
+ the University of Pennsylvania, Philadelphia, PA, USA.
+FAU - Haggarty, Stephen J
+AU - Haggarty SJ
+AUID- ORCID: 0000-0002-7872-168X
+AD - Department of Neurology, Massachusetts General Hospital and Harvard Medical
+ School, Boston, MA, USA.
+FAU - Ansorge, Olaf
+AU - Ansorge O
+AUID- ORCID: 0000-0003-1825-5434
+AD - Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
+FAU - Husain, Masud
+AU - Husain M
+AUID- ORCID: 0000-0002-6850-9255
+AD - Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
+FAU - Halliday, Glenda M
+AU - Halliday GM
+AUID- ORCID: 0000-0003-0422-8398
+AD - University of Sydney, Faculty of Medicine and Health School of Medical Sciences
+ and Brain and Mind Centre, Sydney, New South Wales, Australia.
+FAU - Al-Sarraj, Safa
+AU - Al-Sarraj S
+AD - London Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical
+ Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College
+ London, London, UK.
+AD - Department of Clinical Neuropathology, King's College Hospital NHS Foundation
+ Trust, London, UK.
+FAU - Ross, Owen A
+AU - Ross OA
+AUID- ORCID: 0000-0003-4813-756X
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
+FAU - Sleegers, Kristel
+AU - Sleegers K
+AUID- ORCID: 0000-0002-0283-2332
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+AD - VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
+FAU - Vandenberghe, Rik
+AU - Vandenberghe R
+AUID- ORCID: 0000-0001-6237-2502
+AD - Laboratory for Cognitive Neurology, Department of Neurosciences, Leuven Brain
+ Institute, KU Leuven, Leuven, Belgium.
+AD - Department of Neurology, University Hospitals Leuven (UZ Leuven), Leuven,
+ Belgium.
+FAU - Boeve, Bradley F
+AU - Boeve BF
+AUID- ORCID: 0000-0002-4153-8187
+AD - Department of Neurology, Mayo Clinic, Rochester, MN, USA.
+FAU - Graff-Radford, Neill R
+AU - Graff-Radford NR
+AD - Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
+FAU - Kofler, Julia
+AU - Kofler J
+AD - Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.
+FAU - White, Charles L 3rd
+AU - White CL 3rd
+AUID- ORCID: 0000-0002-3870-2804
+AD - Division of Neuropathology, University of Texas Southwestern Medical Center,
+ Dallas, TX, USA.
+FAU - Lashley, Tammaryn
+AU - Lashley T
+AD - Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology,
+ London, UK.
+FAU - Neumann, Manuela
+AU - Neumann M
+AD - Department of Neuropathology, University of Tubingen, Tubingen, Germany.
+AD - German Center for Neurodegenerative Diseases (DZNE), Tubingen, Germany.
+FAU - Biernacka, Joanna M
+AU - Biernacka JM
+AUID- ORCID: 0000-0001-9350-4440
+AD - Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
+AD - Department of Psychiatry & Psychology, Mayo Clinic, Rochester, MN, USA.
+FAU - Seeley, William W
+AU - Seeley WW
+AUID- ORCID: 0000-0003-1410-2027
+AD - Department of Neurology, UCSF Weill Institute for Neurosciences, University of
+ California, San Francisco, San Francisco, CA, USA.
+FAU - Seelaar, Harro
+AU - Seelaar H
+AUID- ORCID: 0000-0003-1989-7527
+AD - Department of Neurology, Erasmus Medical Center, Rotterdam, the Netherlands.
+FAU - van Swieten, John C
+AU - van Swieten JC
+AD - Department of Neurology, Erasmus Medical Center, Rotterdam, the Netherlands.
+FAU - Rohrer, Jonathan D
+AU - Rohrer JD
+AD - Department of Neurodegenerative Disease, Dementia Research Centre, University
+ College London Queen Square Institute of Neurology, London, UK.
+FAU - Dickson, Dennis W
+AU - Dickson DW
+AUID- ORCID: 0000-0001-7189-7917
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
+AD - Department of Laboratory Medicine and Pathology, Mayo Clinic, Jacksonville, FL,
+ USA.
+FAU - Mackenzie, Ian R A
+AU - Mackenzie IRA
+AUID- ORCID: 0000-0003-3875-2972
+AD - Department of Pathology and Laboratory Medicine, University of British Columbia,
+ Vancouver, British Columbia, Canada.
+FAU - Rademakers, Rosa
+AU - Rademakers R
+AUID- ORCID: 0000-0002-4049-0863
+AD - Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
+ rosa.rademakers@uantwerpen.vib.be.
+AD - VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
+ rosa.rademakers@uantwerpen.vib.be.
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
+ rosa.rademakers@uantwerpen.vib.be.
+LA - eng
+GR - UG3NS103870/U.S. Department of Health & Human Services | NIH | National Institute
+ of Neurological Disorders and Stroke (NINDS)/
+GR - R35NS097261/U.S. Department of Health & Human Services | NIH | National Institute
+ of Neurological Disorders and Stroke (NINDS)/
+GR - RF1NS123052/U.S. Department of Health & Human Services | NIH | National Institute
+ of Neurological Disorders and Stroke (NINDS)/
+GR - R01NS121125/U.S. Department of Health & Human Services | NIH | National Institute
+ of Neurological Disorders and Stroke (NINDS)/
+GR - P30 AG072976/AG/NIA NIH HHS/United States
+GR - RF1 NS123052/NS/NINDS NIH HHS/United States
+GR - R21 NS110994/NS/NINDS NIH HHS/United States
+GR - R01 NS123052/NS/NINDS NIH HHS/United States
+GR - U19AG063911/U.S. Department of Health & Human Services | NIH | National Institute
+ of Neurological Disorders and Stroke (NINDS)/
+GR - R21NS110994/U.S. Department of Health & Human Services | NIH | National Institute
+ of Neurological Disorders and Stroke (NINDS)/
+PT - Journal Article
+DEP - 20260312
+PL - United States
+TA - Nat Genet
+JT - Nature genetics
+JID - 9216904
+RN - 0 (Ubiquitin)
+RN - 0 (Membrane Proteins)
+SB - IM
+MH - Humans
+MH - *Frontotemporal Lobar Degeneration/genetics/pathology
+MH - *Genetic Predisposition to Disease
+MH - Risk Factors
+MH - Genome-Wide Association Study
+MH - *Ubiquitin/metabolism/genetics
+MH - Male
+MH - Polymorphism, Single Nucleotide
+MH - Female
+MH - *Membrane Proteins/genetics
+MH - *Inclusion Bodies/metabolism/pathology/genetics
+MH - *DNA Repeat Expansion/genetics
+MH - Middle Aged
+MH - Haplotypes
+MH - Case-Control Studies
+MH - Aged
+PMC - PMC13083237
+COIS- Competing interests: W.D.C. has received free consumables and travel
+ reimbursement from Oxford Nanopore Technologies. W.D.C. and R.R. are inventors on
+ a patent filed concerning diagnostic applications of the GOLGA8A repeat expansion
+ as described in this Article. R.R. received consulting fees from Arkuda
+ Therapeutics. D.R.T. received consulting fees from Muna Therapeutics and
+ collaborated with Novartis Pharma AG (Switzerland), and GE Healthcare (UK). S.E.
+ received consulting fees from Biogen (paid to institution), Eisai (paid to
+ institution), Icometrix (paid to institution), Janssen (paid to institution), Eli
+ Lilly, Novartis (paid to institution) and Remynd (paid to institution). S.E.
+ holds patent EP3452830B1 for an assay for the diagnosis of a neurological disease
+ (licensed to ADX Neurosciences NV & Euroimmun Medizinische Labordiagnostika AG).
+ S.E. is a member of SMB/SAB for EU-H2020 project RECAGE and chair of the DSMB of
+ PRImus-AD (paid to institution). A.L.B. has served as a paid consultant to
+ Alector, Alexion, Arrowhead, Arvinas, Biogen, BMS, Eli Lilly, Janssen, Merck,
+ Neurocrine, Novartis, Oligomerix, Ono, Oscotec, Otsuka, Switch and Voyager.
+ A.L.B. is a scientific cofounder of Neurovanda, and has stock/options in Alector,
+ Arvinas and Neurovanda. S.J.H. serves on the scientific advisory board of
+ Proximity Therapeutics, Psy Therapeutics, Sensorium Therapeutics, 4M
+ Therapeutics, Ilios Therapeutics, Entheos Labs, Birdwood Therapeutics and
+ Manhattan Neuroscience, none of whom was involved in the present study. S.J.H.
+ has also received speaking or consulting fees from Amgen, AstraZeneca, Biogen,
+ Merck, Regenacy Pharmaceuticals, Syros Pharmaceuticals, Juvenescence Life and
+ Souvien Therapeutics, as well as sponsored research or gift funding from
+ AstraZeneca, JW Pharmaceuticals, Lexicon Pharmaceuticals, Vesigen Therapeutics,
+ Compass Pathways, Atai Life Sciences and Stealth Biotherapeutics. R.V.'s
+ institution has clinical trial agreements (R.V. as site PI) with Alector,
+ AviadoBio, BMS, Denali, Eli Lilly, J&J, Merck and UCB. R.V.'s institution has
+ consultancy agreements (R.V. as DSMB or DMC member) with ACImmune and Novartis.
+ Z.K.W. serves as Mayo Clinic site PI on the Amylyx AMX0035-009 project and acts
+ as an external advisory board member for the Savanna Biotherapeutics, Inc., and
+ as a consultant for the BlueRock Therapeutics LP. The other authors declare no
+ competing interests.
+EDAT- 2026/03/13 06:52
+MHDA- 2026/04/17 04:10
+PMCR- 2026/03/12
+CRDT- 2026/03/13 00:34
+PHST- 2025/02/21 00:00 [received]
+PHST- 2026/02/09 00:00 [accepted]
+PHST- 2026/04/17 04:10 [medline]
+PHST- 2026/03/13 06:52 [pubmed]
+PHST- 2026/03/13 00:34 [entrez]
+PHST- 2026/03/12 00:00 [pmc-release]
+AID - 10.1038/s41588-026-02537-7 [pii]
+AID - 2537 [pii]
+AID - 10.1038/s41588-026-02537-7 [doi]
+PST - ppublish
+SO - Nat Genet. 2026 Apr;58(4):726-736. doi: 10.1038/s41588-026-02537-7. Epub 2026 Mar
+ 12.
+
diff --git a/data/literature/HTT_batch_01.txt b/data/literature/HTT_batch_01.txt
index 4f24d8a9..327855fe 100644
--- a/data/literature/HTT_batch_01.txt
+++ b/data/literature/HTT_batch_01.txt
@@ -1,4 +1,1114 @@
+PMID- 42210302
+OWN - NLM
+STAT- Publisher
+LR - 20260529
+IS - 1750-1326 (Electronic)
+IS - 1750-1326 (Linking)
+DP - 2026 May 28
+TI - Temporal single-cell atlas of full-length Huntington's disease mouse model
+ defines stage-specific signatures of corticostriatal dysfunction.
+LID - 10.1186/s13024-026-00960-2 [doi]
+AB - BACKGROUND: Huntington's disease (HD) involves progressive corticostriatal
+ dysfunction, yet the temporal dynamics and cell type-specific vulnerability
+ patterns remain incompletely understood. While recent single-cell studies in
+ rapidly progressing models have revealed early developmental and regional
+ changes, temporal profiling distinguishing pathogenic mechanisms from normal
+ aging in full-length HTT models remains lacking. Resolving stage-specific
+ temporal dynamics across interconnected striatal and cortical neuronal
+ populations over protracted time is essential for identifying drivers of cellular
+ dysfunction. METHODS: A temporal single-nucleus transcriptomic atlas was
+ generated from striatum and motor cortex from heterozygous zQ175 knock-in mice at
+ early symptomatic (6 months) and late symptomatic (18 months) stages. This
+ full-length huntingtin model enables staging of progressive circuit dysfunction
+ alongside physiological aging. The high inherited CAG repeat length of the zQ175
+ model places cells beyond the somatic expansion threshold associated with
+ transcriptional dysregulation and identity erosion in vulnerable human neuronal
+ populations, yet prior to the de-repression crisis and cell loss observed at the
+ most extreme expansions in HD, providing a tractable window into the progressive
+ molecular pathogenic cascade. Genotype-dependent effects were modeled to
+ distinguish cell type-specific signatures of disease mechanisms from age-related
+ and compensatory changes. Integration of weighted gene co-expression and
+ transcription factor regulatory networks with protein-protein interaction
+ databases predicted candidate regulators of stage-specific programs. Findings
+ were validated across human HD datasets and the rapidly progressive R6/2 mouse
+ model. RESULTS: Temporal gene and network analysis revealed diverging, converging
+ and biphasic patterns of transcriptional changes, distinguishing progressive
+ disease and neuronal identity loss from aging. 21 cell type-specific gene
+ co-expression modules were validated in human HD and R6/2 mice datasets,
+ revealing stage-specific shifts in cellular stress, proteostasis, and synaptic
+ programs. Disease modules enriched for CAG repeat length-dependent genes resolved
+ their temporal progression. Shared vulnerability across cortical and striatal
+ projection neurons implicated epigenetic regulator Zswim6 and splicing factors
+ Rbfox1 and Celf2 in corticostriatal dysfunction. Integrative network analysis
+ identified Foxo1, Neurod2, and Npas2 as stage-specific transcriptional
+ regulators. Cross-species validation established conserved gene regulatory
+ modules in human HD, establishing generalizable cell type-specific gene modules
+ of translational relevance. CONCLUSIONS: This temporally resolved atlas reveals
+ stage-specific transcriptional dynamics of disease-relevant gene expression
+ programs and physiological trajectories in vulnerable neuronal populations.
+ distinguished from aging alone. This work establishes an important framework for
+ understanding the temporal and regional coordination of pathogenic mechanisms,
+ providing molecular insights into stage-specific therapeutic intervention.
+CI - (c) 2026. The Author(s).
+FAU - Robbins, Ashley B
+AU - Robbins AB
+AD - Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's
+ Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
+AD - Neuroscience Graduate Group, Biomedical Graduate Studies Program, University of
+ Pennsylvania, Philadelphia, PA, 19104, USA.
+FAU - Ranum, Paul T
+AU - Ranum PT
+AD - Latus Bio, N 30th Street, Philadelphia, PA, 19104, USA.
+FAU - Huerta-Ocampo, Icnelia
+AU - Huerta-Ocampo I
+AD - Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's
+ Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
+FAU - Kuckyr, Michael
+AU - Kuckyr M
+AD - Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's
+ Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
+AD - Cell and Molecular Biology Graduate Group, Biomedical Graduate Studies Program,
+ University of Pennsylvania, Philadelphia, PA, 19104, USA.
+FAU - Davidson, Beverly L
+AU - Davidson BL
+AD - Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's
+ Hospital of Philadelphia, Philadelphia, PA, 19104, USA. davidsonbl@chop.edu.
+AD - Department of Pathology & Laboratory Medicine, University of Pennsylvania,
+ Philadelphia, PA, 19104, USA. davidsonbl@chop.edu.
+LA - eng
+GR - T32 HG000046/HG/NHGRI NIH HHS/United States
+GR - T32 HG000046/HG/NHGRI NIH HHS/United States
+GR - F31 NS122297/NS/NINDS NIH HHS/United States
+PT - Journal Article
+DEP - 20260528
+PL - England
+TA - Mol Neurodegener
+JT - Molecular neurodegeneration
+JID - 101266600
+SB - IM
+OTO - NOTNLM
+OT - CAG repeat expansion
+OT - Huntington's disease
+OT - Motor cortex
+OT - Neurodegeneration
+OT - Neuronal vulnerability
+OT - Omics
+OT - Single-nucleus RNA sequencing
+OT - Striatum
+COIS- Declarations. Ethical approval: All animal work adhered to NIH guidelines under
+ IACUC approved by protocols at the Children's Hospital of Philadelphia. Competing
+ interests: B.L.D is a founder of Latus Bio; and has sponsored research or
+ consults for Carbon Therapeutics, Latus Bio, and Seamless Ther; P.R.R. is a
+ founder and employee of Latus Bio. The remaining authors declare no competing
+ interests.
+EDAT- 2026/05/29 15:44
+MHDA- 2026/05/29 15:44
+CRDT- 2026/05/29 00:03
+PHST- 2026/01/15 00:00 [received]
+PHST- 2026/05/23 00:00 [accepted]
+PHST- 2026/05/29 15:44 [medline]
+PHST- 2026/05/29 15:44 [pubmed]
+PHST- 2026/05/29 00:03 [entrez]
+AID - 10.1186/s13024-026-00960-2 [pii]
+AID - 10.1186/s13024-026-00960-2 [doi]
+PST - aheadofprint
+SO - Mol Neurodegener. 2026 May 28. doi: 10.1186/s13024-026-00960-2.
+
+PMID- 42202221
+OWN - NLM
+STAT- Publisher
+LR - 20260527
+IS - 1879-6400 (Electronic)
+IS - 1879-6397 (Linking)
+DP - 2026 May 27
+TI - Clinical implications of loss of interruption variants for diagnosis, genetic
+ counselling, and clinical trials in Huntington's disease.
+PG - 18796397261443135
+LID - 10.1177/18796397261443135 [doi]
+AB - Age of onset in Huntington disease (HD) is influenced by cis-acting genetic
+ variants, particularly the loss of interrupting codons in the HTT CAG and CCG
+ repeats (CAG-CCG LOI variant). The CAG-CCG LOI variant is not detectable by
+ current diagnostic assays, leading to underestimation of CAG repeat length,
+ misdiagnosis, and inaccurate prediction of risk of symptom onset in the reduced
+ penetrance range. In clinical trials, unidentified CAG-CCG LOI variants may
+ affect interpretation of results, particularly for small trials. Accurate
+ ascertainment and reporting of the CAG-CCG LOI genotype therefore has important
+ implications for HD diagnosis, genetic counselling, and clinical trial design.
+FAU - Findlay Black, Hailey
+AU - Findlay Black H
+AUID- ORCID: 0000-0003-2479-2463
+AD - Centre for Molecular Medicine and Therapeutics, University of British Columbia,
+ Vancouver, Canada.
+FAU - Levesley, Jessica
+AU - Levesley J
+AUID- ORCID: 0000-0002-8773-4634
+AD - Centre for Molecular Medicine and Therapeutics, University of British Columbia,
+ Vancouver, Canada.
+FAU - Kay, Chris
+AU - Kay C
+AUID- ORCID: 0000-0002-8170-4805
+AD - Centre for Molecular Medicine and Therapeutics, University of British Columbia,
+ Vancouver, Canada.
+FAU - Bortnick, Stephanie
+AU - Bortnick S
+AD - Centre for Molecular Medicine and Therapeutics, University of British Columbia,
+ Vancouver, Canada.
+FAU - Javier, Kyla
+AU - Javier K
+AUID- ORCID: 0009-0006-7514-4684
+AD - Centre for Molecular Medicine and Therapeutics, University of British Columbia,
+ Vancouver, Canada.
+FAU - Hayden, Michael R
+AU - Hayden MR
+AUID- ORCID: 0000-0001-5159-1419
+AD - Centre for Molecular Medicine and Therapeutics, University of British Columbia,
+ Vancouver, Canada.
+LA - eng
+PT - Journal Article
+DEP - 20260527
+PL - United States
+TA - J Huntingtons Dis
+JT - Journal of Huntington's disease
+JID - 101589965
+SB - IM
+OTO - NOTNLM
+OT - Huntington disease
+OT - Huntington's disease
+OT - clinical trial
+OT - genetic counselling
+OT - genetic modifier
+OT - genetic testing
+OT - genetic variant
+OT - intermediate allele
+OT - loss of interruption
+OT - reduced penetrance
+EDAT- 2026/05/27 18:28
+MHDA- 2026/05/27 18:28
+CRDT- 2026/05/27 15:33
+PHST- 2026/05/27 18:28 [medline]
+PHST- 2026/05/27 18:28 [pubmed]
+PHST- 2026/05/27 15:33 [entrez]
+AID - 10.1177/18796397261443135 [doi]
+PST - aheadofprint
+SO - J Huntingtons Dis. 2026 May 27:18796397261443135. doi: 10.1177/18796397261443135.
+
+PMID- 42196324
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260527
+LR - 20260529
+IS - 1422-0067 (Electronic)
+IS - 1422-0067 (Linking)
+VI - 27
+IP - 10
+DP - 2026 May 13
+TI - Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant
+ Expansions in a Large Turkish Neurodegeneration Disease Cohort.
+LID - 10.3390/ijms27104345 [doi]
+LID - 4345
+AB - Short tandem repeat (STR) expansions are a major cause of neurodegenerative
+ disorders; however, their genetic and clinical heterogeneity complicates
+ diagnosis. STR detection remains limited in routine short-read next-generation
+ sequencing (NGS) workflows. We evaluated the diagnostic yield and clinical
+ utility of computational STR genotyping in a large Turkish neurodegenerative
+ disease cohort. ExpansionHunter was applied to NGS data from 3150 patients and
+ 146 controls, targeting 15 disease-associated STR loci. To improve genotyping of
+ poorly captured exonic regions in exome data, the default locus coverage
+ threshold was reduced from 10x to 3x. Candidate expansions were visually
+ inspected using REViewer and validated by conventional molecular methods.
+ Computational analysis detected 28 pathogenic and 160 intermediate expansions. Of
+ these, 23 were confirmed as pathogenic, and eight initially classified as
+ intermediate were reclassified as pathogenic after conventional validation,
+ resulting in 31 pathogenic cases across 28 families: HTT (n = 8), ATXN2 (n = 5),
+ ATXN1 (n = 4), DMPK (n = 3), PABPN1 (n = 3), TBP (n = 2), and single cases in AR,
+ ATN1, and CACNA1A. Lowering the coverage threshold markedly increased genotyping
+ rates at low-coverage loci in exome data, particularly in ATXN2. Genetic findings
+ were largely consistent with clinical pre-diagnosis and the additional diagnostic
+ yield was 0.95%. These findings support integrating STR analysis into routine
+ neurogenetic diagnostics.
+FAU - Khojakulov, Zakhiriddin
+AU - Khojakulov Z
+AUID- ORCID: 0000-0002-7771-8956
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Palvadeau, Robin J
+AU - Palvadeau RJ
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Kovancilar-Koc, Muge
+AU - Kovancilar-Koc M
+AUID- ORCID: 0009-0006-7125-1159
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Atay, Irmak
+AU - Atay I
+AUID- ORCID: 0009-0007-3284-7790
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Sahbaz, Irmak
+AU - Sahbaz I
+AUID- ORCID: 0000-0001-8816-9158
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Tekgul, Seyma
+AU - Tekgul S
+AUID- ORCID: 0000-0001-5223-5627
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Sahin, Ayca
+AU - Sahin A
+AUID- ORCID: 0000-0002-0948-6495
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Badakal, Esmer Zeynep Duru
+AU - Badakal EZD
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Gul-Demirkale, Tugce
+AU - Gul-Demirkale T
+AUID- ORCID: 0000-0002-1818-9839
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Ciftci, Vildan
+AU - Ciftci V
+AUID- ORCID: 0000-0002-4441-6062
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Bayraktar, Elif
+AU - Bayraktar E
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Tunca, Ceren
+AU - Tunca C
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Smolina, Natalia
+AU - Smolina N
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Akcimen, Fulya
+AU - Akcimen F
+AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
+ Health, Bethesda, MD 20892, USA.
+FAU - Basak, Ayse Nazli
+AU - Basak AN
+AUID- ORCID: 0000-0001-6977-2517
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+LA - eng
+GR - Suna and Inan Kirac Foundation/Suna and Inan Kirac Foundation/
+GR - Koc university/Koc University/
+PT - Journal Article
+DEP - 20260513
+PL - Switzerland
+TA - Int J Mol Sci
+JT - International journal of molecular sciences
+JID - 101092791
+SB - IM
+MH - Humans
+MH - *Microsatellite Repeats/genetics
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Turkey/epidemiology
+MH - High-Throughput Nucleotide Sequencing
+MH - Genotype
+MH - Female
+MH - *Genotyping Techniques/methods
+MH - Male
+MH - Cohort Studies
+MH - *DNA Repeat Expansion
+MH - Computational Biology/methods
+PMC - PMC13207311
+OTO - NOTNLM
+OT - ExpansionHunter
+OT - NGS
+OT - STR
+OT - computational genotyping
+OT - neurodegenerative diseases
+OT - short tandem repeats
+COIS- The authors declare no conflicts of interest. The contributions of the NIH
+ author(s) are considered Works of the United States Government. The findings and
+ conclusions presented in this paper are those of the author(s) and do not
+ necessarily reflect the views of the NIH or the U.S. Department of Health and
+ Human Services.
+EDAT- 2026/05/27 06:33
+MHDA- 2026/05/27 06:34
+PMCR- 2026/05/13
+CRDT- 2026/05/27 01:16
+PHST- 2026/03/05 00:00 [received]
+PHST- 2026/04/04 00:00 [revised]
+PHST- 2026/04/09 00:00 [accepted]
+PHST- 2026/05/27 06:34 [medline]
+PHST- 2026/05/27 06:33 [pubmed]
+PHST- 2026/05/27 01:16 [entrez]
+PHST- 2026/05/13 00:00 [pmc-release]
+AID - ijms27104345 [pii]
+AID - ijms-27-04345 [pii]
+AID - 10.3390/ijms27104345 [doi]
+PST - epublish
+SO - Int J Mol Sci. 2026 May 13;27(10):4345. doi: 10.3390/ijms27104345.
+
+PMID- 42185880
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260526
+LR - 20260528
+IS - 1868-7083 (Electronic)
+IS - 1868-7075 (Print)
+IS - 1868-7075 (Linking)
+VI - 18
+IP - 1
+DP - 2026 May 26
+TI - DNA methylation profiling in Huntington's disease reveals disease associated
+ changes in the striatum.
+LID - 10.1186/s13148-026-02082-4 [doi]
+LID - 92
+AB - BACKGROUND: Huntington's disease is caused by a trinucleotide CAG repeat
+ expansion in the HTT gene. Despite displaying autosomal dominance, phenotypic
+ variation exists amongst mutation carriers, in particular relating to the age
+ that symptoms first occur. This variation is primarily driven by an inverse
+ relationship between CAG expansion size and age of symptom onset. However, the
+ majority of variation in age of onset that is independent of CAG repeat length is
+ thought to be driven by environmental influences. Since DNA methylation can be
+ altered by environmental factors, and as methylomic variation is reported in
+ other neurodegenerative diseases, it may offer a potential mechanism underlying
+ disease manifestation. RESULTS: We utilized the Illumina EPIC v1 methylation
+ array to profile DNA methylation in 120 samples, including three distinct brain
+ regions (striatum, entorhinal cortex and cerebellum) in 20 Huntington's disease
+ and 22 control donors. We identified seven Bonferroni-significant differentially
+ methylated CpGs within the striatum along with 27 differentially methylated
+ regions, annotated to genes involved in physiological processes known to be
+ disrupted in HD such as the urea cycle and metabolism. Weighted gene correlation
+ network analysis identified modules of co-methylated CpGs that were associated
+ with Huntington's disease, with ontological analyses showing enrichment in
+ disease relevant processes. Furthermore, integration of single-nuclei RNA
+ sequencing data highlighted that genes annotated to these modules are enriched in
+ striatal spiny projection neurons, the primary cell types affected in the
+ disease. CONCLUSIONS: Here, we present the first epigenome-wide association study
+ of Huntington's disease conducted in the striatum, the primary region of
+ neuropathology, along with matched entorhinal cortex and cerebellum on the
+ Illumina EPIC v1 array. Our results suggest that DNA methylation is altered at
+ loci associated with Huntington's disease in disease relevant regions and cell
+ types and strengthens evidence for areas of potential therapeutic intervention.
+CI - (c) 2026. The Author(s).
+FAU - Wheildon, Gregory
+AU - Wheildon G
+AD - Department of Clinical and Biomedical Sciences, Faculty of Health and Life
+ Sciences, University of Exeter, Exeter, UK.
+FAU - Smith, Adam R
+AU - Smith AR
+AD - Department of Clinical and Biomedical Sciences, Faculty of Health and Life
+ Sciences, University of Exeter, Exeter, UK.
+FAU - Weymouth, Luke
+AU - Weymouth L
+AD - Department of Clinical and Biomedical Sciences, Faculty of Health and Life
+ Sciences, University of Exeter, Exeter, UK.
+FAU - Harvey, Joshua
+AU - Harvey J
+AD - Department of Clinical and Biomedical Sciences, Faculty of Health and Life
+ Sciences, University of Exeter, Exeter, UK.
+FAU - Kouhsar, Morteza
+AU - Kouhsar M
+AD - Department of Clinical and Biomedical Sciences, Faculty of Health and Life
+ Sciences, University of Exeter, Exeter, UK.
+FAU - MacBean, Lachlan F
+AU - MacBean LF
+AD - Department of Clinical and Biomedical Sciences, Faculty of Health and Life
+ Sciences, University of Exeter, Exeter, UK.
+FAU - Troakes, Claire
+AU - Troakes C
+AD - Institute of Psychiatry, Psychology & Neuroscience (IoPPN), King's College
+ London, De Crespigny Park, London, UK.
+FAU - Pishva, Ehsan
+AU - Pishva E
+AD - Department of Clinical and Biomedical Sciences, Faculty of Health and Life
+ Sciences, University of Exeter, Exeter, UK.
+AD - Department of Psychiatry and Neuropsychology, Mental Health and Neuroscience
+ Research Institute (MHeNS), Maastricht University, Maastricht, The Netherlands.
+FAU - Smith, Rebecca G
+AU - Smith RG
+AD - Department of Clinical and Biomedical Sciences, Faculty of Health and Life
+ Sciences, University of Exeter, Exeter, UK.
+FAU - Lunnon, Katie
+AU - Lunnon K
+AD - Department of Clinical and Biomedical Sciences, Faculty of Health and Life
+ Sciences, University of Exeter, Exeter, UK. k.lunnon@exeter.ac.uk.
+LA - eng
+GR - MR/Y014685/1/MRC_/Medical Research Council/United Kingdom
+PT - Journal Article
+DEP - 20260526
+PL - Germany
+TA - Clin Epigenetics
+JT - Clinical epigenetics
+JID - 101516977
+RN - 0 (Huntingtin Protein)
+SB - IM
+MH - Humans
+MH - *Huntington Disease/genetics
+MH - *DNA Methylation/genetics
+MH - Male
+MH - Middle Aged
+MH - Female
+MH - Adult
+MH - CpG Islands
+MH - *Corpus Striatum/metabolism
+MH - Aged
+MH - Huntingtin Protein/genetics
+MH - Entorhinal Cortex/metabolism
+MH - Case-Control Studies
+MH - Trinucleotide Repeat Expansion
+MH - Epigenesis, Genetic
+MH - Cerebellum/metabolism
+PMC - PMC13202909
+OTO - NOTNLM
+OT - Brain
+OT - Cerebellum
+OT - DNA methylation
+OT - Entorhinal cortex
+OT - Epigenetics
+OT - Epigenome-wide association study (EWAS)
+OT - Huntington's disease (HD)
+OT - Illumina infinium methylation EPIC v1.0 array
+OT - Striatum
+OT - Weighted gene correlation network analysis (WGCNA)
+COIS- Declarations. Ethics approval and consent to participate: Ethical approval for
+ the study was granted from the University of Exeter Medical School Research
+ Ethics Committee (13/02/009). Consent for publication: Not applicable. Competing
+ interests: The authors declare no competing interests.
+EDAT- 2026/05/26 00:32
+MHDA- 2026/05/26 06:31
+PMCR- 2026/05/26
+CRDT- 2026/05/25 23:58
+PHST- 2025/05/16 00:00 [received]
+PHST- 2026/02/03 00:00 [accepted]
+PHST- 2026/05/26 06:31 [medline]
+PHST- 2026/05/26 00:32 [pubmed]
+PHST- 2026/05/25 23:58 [entrez]
+PHST- 2026/05/26 00:00 [pmc-release]
+AID - 10.1186/s13148-026-02082-4 [pii]
+AID - 2082 [pii]
+AID - 10.1186/s13148-026-02082-4 [doi]
+PST - epublish
+SO - Clin Epigenetics. 2026 May 26;18(1):92. doi: 10.1186/s13148-026-02082-4.
+
+PMID- 42183198
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260525
+LR - 20260525
+IS - 1664-3224 (Electronic)
+IS - 1664-3224 (Linking)
+VI - 17
+DP - 2026
+TI - The pathological Huntingtin CAG triplet expansion differentially affects the
+ diagnosis of systemic and organ-specific autoimmune diseases.
+PG - 1689962
+LID - 10.3389/fimmu.2026.1689962 [doi]
+LID - 1689962
+AB - BACKGROUND: In Huntington's disease (HD), signs of inflammatory activation are
+ found in the brain, cerebrospinal fluid, and blood. HD monocytes are reported to
+ be hyperreactive in vitro. Thus, HD mutation might affect the immune system. AIM:
+ To explore the frequency of autoimmune diseases (AIDs) in HD mutation carriers
+ (people with the HD mutation, PwHD) compared to control participants (CPs) as
+ markers of immune dysfunction related to CAG triplet expansion in the Huntingtin
+ (HTT) gene. METHODS: Analysis of the Enroll-HD periodic dataset #5 (European
+ sites) was conducted. Definite AIDs, coded using the abbreviated ICD-10 in the
+ dataset for comorbidities, were identified. AIDs were grouped by organ
+ specificity into arthropathy-dominant AIDs of musculoskeletal and connective
+ tissues (arthropathic), as well as endocrine, dermatological, and
+ gastrointestinal AIDs. RESULTS: Although AID frequency was not different in PwHD
+ (709/10,594; 6.7%) compared to CPs (176/2,477; 7.1%, p = 0.451), the AID subgroup
+ distribution differed (p = 0.033) with endocrine AIDs being less frequent in PwHD
+ [odds ratio (OR): 0.80; 95% confidence interval (95% CI) 0.68-0.95], while
+ dermatological AIDs tended to be more common [OR (95% CI): 1.13 (0.94-1.38)].
+ These observations were explained by a reduced frequency of Hashimoto thyroiditis
+ in PwHD [OR (95% CI): 0.69 (0.56-0.86)], while carriership of the HD mutation was
+ associated with an increased risk of psoriasis [OR (95% CI): 1.27 (1.03-1.60)].
+ Among PwHD, those with an AID had lower CAG repeats [median (interquartile
+ range): 42 (41-44)] than those without [43 (41-45), p < 0.0001]. When adjusted
+ for sex and age, each extra pathological CAG repeat reduced the AID risk [OR (95%
+ CI): 0.69 (0.61-0.78), p < 0.001]. The CAG dependency of the AID frequency among
+ PwHD was mostly explained by arthropathic AID. In a well-defined early-manifest
+ PwHD core group, each additional CAG repeat reduced the likelihood of an
+ AID(arthro) when adjusted for functional impairment, sex, and age at enrollment
+ with an odds ratio of 0.57 (95% CI: 0.44-0.74, p < 0.0001). CONCLUSION: Both the
+ presence and the exact size of the pathological CAG triplet expansion in the HTT
+ gene differentially affect the frequency of certain AIDs. Our results support the
+ idea that HD mutations affect immune function, but in a complex, disease-specific
+ pattern.
+CI - Copyright (c) 2026 Heyd, Landwehrmeyer and Lewerenz.
+FAU - Heyd, Moritz
+AU - Heyd M
+AD - Department of Neurology, Ulm University Hospital, Ulm, Germany.
+FAU - Landwehrmeyer, G Bernhard
+AU - Landwehrmeyer GB
+AD - Department of Neurology, Ulm University Hospital, Ulm, Germany.
+FAU - Lewerenz, Jan
+AU - Lewerenz J
+AD - Department of Neurology, Ulm University Hospital, Ulm, Germany.
+LA - eng
+PT - Journal Article
+DEP - 20260508
+PL - Switzerland
+TA - Front Immunol
+JT - Frontiers in immunology
+JID - 101560960
+RN - 0 (Huntingtin Protein)
+RN - 0 (HTT protein, human)
+SB - IM
+MH - Humans
+MH - *Huntingtin Protein/genetics
+MH - Male
+MH - Female
+MH - Middle Aged
+MH - *Autoimmune Diseases/genetics/diagnosis/immunology
+MH - Adult
+MH - *Huntington Disease/genetics/immunology
+MH - *Trinucleotide Repeat Expansion
+MH - Aged
+MH - Genetic Predisposition to Disease
+MH - Mutation
+PMC - PMC13194399
+OTO - NOTNLM
+OT - Hashimoto thyroiditis
+OT - Huntington's disease
+OT - autoimmune disease
+OT - psoriasis
+OT - rheumatoid arthritis
+COIS- JL is the local PI for HDClarity, a cerebrospinal fluid collection in PwHD and
+ control participants also funded by the CHDI foundation. His institution has
+ received financial compensation for his clinical trial services from the
+ following companies: SOM Biotech and the CHDI Foundation. GL is the global PI for
+ Enroll-HD. His institution has received financial compensation for his clinical
+ trial services from the following companies: Hoffmann-La Roche, Novartis,
+ Prilenia, Wave, and the CHDI Foundation as well as non-financial support travel
+ and accommodation reimbursement from European Huntington's Disease Network. The
+ remaining author(s) declared that this work was conducted in the absence of any
+ commercial or financial relationships that could be construed as a potential
+ conflict of interest.
+EDAT- 2026/05/25 12:35
+MHDA- 2026/05/25 12:36
+PMCR- 2026/05/08
+CRDT- 2026/05/25 08:16
+PHST- 2025/08/21 00:00 [received]
+PHST- 2026/04/20 00:00 [revised]
+PHST- 2026/04/20 00:00 [accepted]
+PHST- 2026/05/25 12:36 [medline]
+PHST- 2026/05/25 12:35 [pubmed]
+PHST- 2026/05/25 08:16 [entrez]
+PHST- 2026/05/08 00:00 [pmc-release]
+AID - 10.3389/fimmu.2026.1689962 [doi]
+PST - epublish
+SO - Front Immunol. 2026 May 8;17:1689962. doi: 10.3389/fimmu.2026.1689962.
+ eCollection 2026.
+
+PMID- 42182232
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260525
+LR - 20260525
+IS - 2692-8205 (Electronic)
+IS - 2692-8205 (Linking)
+DP - 2026 May 12
+TI - C57BL/6 BAC-CAG Huntington's disease mice show somatic CAG expansion and
+ responses to small interfering RNAs comparable to the FVB strain.
+LID - 2026.05.08.723329 [pii]
+LID - 10.64898/2026.05.08.723329 [doi]
+AB - Huntington's disease (HD) is a neurodegenerative disorder caused by CAG repeat
+ expansion in the huntingtin (HTT) gene, with longer repeats linked to earlier
+ onset. Somatic CAG expansion, particularly in the striatum, contributes to
+ disease progression and is influenced by HTT biology and genetic modifiers.
+ Modulating somatic expansion is emerging as a promising approach to slow or
+ prevent HD, and mouse models have been crucial for preclinical testing of
+ different therapeutic strategies. The BAC-CAG model, developed on the FVB strain,
+ has been used to study somatic expansion of human expanded HTT. However,
+ comparisons with other key HD mouse models have been limited by differences in
+ genetic background, as many other models are on the C57BL/6 strain. The BAC-CAG
+ model has now been developed on a C57BL/6 background. To determine whether the
+ C57BL/6 BAC-CAG model can be used to study and modulate somatic expansion, we
+ compared CAG expansion in mice on C57BL/6 or FVB backgrounds, with and without
+ intraventricular divalent small interfering RNAs (siRNA) targeting HD modifiers
+ MutS homolog 3 (MSH3) and HTT. Both strains exhibited robust, comparable somatic
+ expansion over two months, which was blocked by MSH3-, but not HTT-, targeted
+ siRNA. RNA sequencing identified gene expression differences primarily in
+ pseudogenes, with no differences in endogenous Htt , human HTT , or mismatch
+ repair genes. These results demonstrate that BAC-CAG mice on a C57BL/6 background
+ exhibit somatic CAG expansion comparable to the validated FVB strain, providing a
+ model to study and preclinically test therapies targeting somatic expansion in
+ HD.
+FAU - Belgrad, Jillian
+AU - Belgrad J
+AUID- ORCID: 0000-0002-2577-2336
+FAU - Summers, Ashley
+AU - Summers A
+FAU - Hildebrand, Samuel
+AU - Hildebrand S
+FAU - Sapp, Ellen
+AU - Sapp E
+FAU - Luu, Eric
+AU - Luu E
+FAU - Yamada, Nozomi
+AU - Yamada N
+FAU - O'Reilly, Dan
+AU - O'Reilly D
+FAU - Vogt, Thomas F
+AU - Vogt TF
+FAU - Howland, David
+AU - Howland D
+FAU - Yang, X William
+AU - Yang XW
+FAU - DiFiglia, Marian
+AU - DiFiglia M
+FAU - Aronin, Neil
+AU - Aronin N
+FAU - Khvorova, Anastasia
+AU - Khvorova A
+AUID- ORCID: 0000-0001-6928-8071
+LA - eng
+PT - Journal Article
+PT - Preprint
+DEP - 20260512
+PL - United States
+TA - bioRxiv
+JT - bioRxiv : the preprint server for biology
+JID - 101680187
+PMC - PMC13192684
+EDAT- 2026/05/25 12:35
+MHDA- 2026/05/25 12:36
+PMCR- 2026/05/21
+CRDT- 2026/05/25 08:08
+PHST- 2026/05/25 12:36 [medline]
+PHST- 2026/05/25 12:35 [pubmed]
+PHST- 2026/05/25 08:08 [entrez]
+PHST- 2026/05/21 00:00 [pmc-release]
+AID - 2026.05.08.723329 [pii]
+AID - 10.64898/2026.05.08.723329 [doi]
+PST - epublish
+SO - bioRxiv [Preprint]. 2026 May 12:2026.05.08.723329. doi:
+ 10.64898/2026.05.08.723329.
+
+PMID- 42181265
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260525
+LR - 20260525
+IS - 2589-0042 (Electronic)
+IS - 2589-0042 (Linking)
+VI - 29
+IP - 6
+DP - 2026 Jun 19
+TI - Huntingtin polyglutamine expansions misdirect axonal transport by perturbing
+ motor and adaptor recruitment.
+PG - 115748
+LID - 10.1016/j.isci.2026.115748 [doi]
+LID - 115748
+AB - Huntington's disease is caused by polyglutamine (polyQ) expansions in huntingtin
+ (HTT). PolyQ lengths >35Q lead to neurodegeneration, and longer repeats
+ correspond to earlier onset of symptoms. HTT scaffolds kinesin-1 and dynein to
+ organelles directly and through adaptors. We tracked BDNF vesicles, mitochondria,
+ and lysosomes in stem-cell-derived neurons engineered to express HTT with polyQ
+ lengths of 30, 45, 65, and 81. BDNF endosomes were more motile in HTT-45Q and
+ HTT-65Q neurons and misdirected toward the distal tip in HTT-81Q neurons. Under
+ neuroinflammatory stress, polyQ expansions resulted in fewer BDNF cargoes and
+ more lysosomes. We next isolated BDNF endosomes from neurons and counted the
+ associated motors and adaptors. We found BDNF endosomes associated with greater
+ numbers of kinesin-1 and HAP1 molecules in HTT-81Q neurons. Together, these
+ results show that polyQ expansions in HTT alter the motors and adaptors recruited
+ to cargoes, resulting in dysregulated transport and responses to
+ neuroinflammatory stress.
+CI - (c) 2026 The Author(s).
+FAU - Prowse, Emily N P
+AU - Prowse ENP
+AD - Department of Bioengineering, McGill University, Montreal, QC, Canada.
+FAU - Turkalj, Brooke A
+AU - Turkalj BA
+AD - Department of Bioengineering, McGill University, Montreal, QC, Canada.
+FAU - Sebastien, Muriel
+AU - Sebastien M
+AD - Department of Bioengineering, McGill University, Montreal, QC, Canada.
+AD - Department of Biology, McGill University, Montreal, QC, Canada.
+FAU - Gursu, Lale
+AU - Gursu L
+AD - Department of Bioengineering, McGill University, Montreal, QC, Canada.
+FAU - Beaudet, Daniel
+AU - Beaudet D
+AD - Department of Bioengineering, McGill University, Montreal, QC, Canada.
+FAU - Feng, Jia
+AU - Feng J
+AD - Department of Medical Genetics, University of British Columbia, Vancouver, BC,
+ Canada.
+FAU - Zhou, Chengqian
+AU - Zhou C
+AD - Department of Bioengineering, McGill University, Montreal, QC, Canada.
+FAU - McBride, Heidi M
+AU - McBride HM
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill
+ University, Montreal, QC, Canada.
+FAU - Brouhard, Gary J
+AU - Brouhard GJ
+AD - Department of Biology, McGill University, Montreal, QC, Canada.
+AD - Centre de Recherche en Biologie Structurale, McGill University, Montreal, QC,
+ Canada.
+FAU - Pouladi, Mahmoud A
+AU - Pouladi MA
+AD - Department of Medical Genetics, University of British Columbia, Vancouver, BC,
+ Canada.
+FAU - Hendricks, Adam G
+AU - Hendricks AG
+AD - Department of Bioengineering, McGill University, Montreal, QC, Canada.
+AD - Centre de Recherche en Biologie Structurale, McGill University, Montreal, QC,
+ Canada.
+LA - eng
+PT - Journal Article
+DEP - 20260417
+PL - United States
+TA - iScience
+JT - iScience
+JID - 101724038
+PMC - PMC13194641
+OTO - NOTNLM
+OT - Cellular neuroscience
+OT - Molecular network
+OT - Molecular neuroscience
+COIS- The authors declare no competing interests.
+EDAT- 2026/05/25 12:35
+MHDA- 2026/05/25 12:36
+PMCR- 2026/04/17
+CRDT- 2026/05/25 07:59
+PHST- 2024/04/10 00:00 [received]
+PHST- 2025/05/09 00:00 [revised]
+PHST- 2026/04/13 00:00 [accepted]
+PHST- 2026/05/25 12:36 [medline]
+PHST- 2026/05/25 12:35 [pubmed]
+PHST- 2026/05/25 07:59 [entrez]
+PHST- 2026/04/17 00:00 [pmc-release]
+AID - S2589-0042(26)01123-5 [pii]
+AID - 115748 [pii]
+AID - 10.1016/j.isci.2026.115748 [doi]
+PST - epublish
+SO - iScience. 2026 Apr 17;29(6):115748. doi: 10.1016/j.isci.2026.115748. eCollection
+ 2026 Jun 19.
+
+PMID- 42152675
+OWN - NLM
+STAT- Publisher
+LR - 20260519
+IS - 1996-3181 (Electronic)
+IS - 1871-5273 (Linking)
+DP - 2026 May 11
+TI - Understanding Huntington's Disease: Epidemiology, Mechanisms, and Modeling
+ Approaches.
+LID - 10.2174/0118715273413803251211091628 [doi]
+AB - Huntington's disease (HD) is a monogenic, autosomal dominant neurodegenerative
+ disorder. Huntington's disease is caused by a CAG trinucleotide repeat expansion
+ in exon 1 of the huntingtin gene, which is located on the short arm of chromosome
+ 4. Although HD has a well-defined genetic cause, the underlying molecular and
+ cellular mechanisms remain complex and incompletely understood. This review
+ examines the established functions of normal huntingtin protein and discusses the
+ harmful consequences of CAG repeat expansions, which result in abnormally
+ extended polyglutamine tracts. In this review, we offer a modern perspective on
+ the molecular biology of HD, using it as a key example of polyglutamine
+ disorders. We explore how mutations in the huntingtin protein disrupt its
+ structure, leading to problems in how cells function and respond to stress,
+ particularly in neurons that are already vulnerable. We highlight the main
+ pathways that contribute to the disease, including issues with autophagy,
+ mitochondrial production, lysosomal function, transport of proteins and
+ organelles, inflammation, oxidative stress, and gene regulation by transcription
+ factors. While much has been learned, some aspects of how the disease develops
+ are still unclear. This concise overview summarizes what is currently known about
+ the normal role of the huntingtin protein and the latest discoveries related to
+ how Huntington's disease progresses at the molecular level.
+CI - Copyright(c) Bentham Science Publishers; For any queries, please email at
+ epub@benthamscience.net.
+FAU - Prakash, Satya
+AU - Prakash S
+AD - University Institute of Pharma Sciences (UIPS), Chandigarh University, NH-95
+ Chandigarh Ludhiana Highway, Mohali, Punjab, India.
+FAU - Kumari, Neha
+AU - Kumari N
+AD - University Institute of Pharma Sciences (UIPS), Chandigarh University, NH-95
+ Chandigarh Ludhiana Highway, Mohali, Punjab, India.
+FAU - Singh, Lovedeep
+AU - Singh L
+AD - University Institute of Pharma Sciences (UIPS), Chandigarh University, NH-95
+ Chandigarh Ludhiana Highway, Mohali, Punjab, India.
+FAU - Shah, Kamal
+AU - Shah K
+AD - Institute of Pharmaceutical Research (IPR), GLA University Mathura, NH-2 Delhi
+ Mathura Road, Po-Chaumuhan, Uttar Pradesh, India.
+FAU - Dewangan, Hitesh Kumar
+AU - Dewangan HK
+AUID- ORCID: 0000-0003-3440-1884
+AD - University Institute of Pharma Sciences (UIPS), Chandigarh University, NH-95
+ Chandigarh Ludhiana Highway, Mohali, Punjab, India.
+FAU - Bhatia, Deepika
+AU - Bhatia D
+AD - University Institute of Pharma Sciences (UIPS), Chandigarh University, NH-95
+ Chandigarh Ludhiana Highway, Mohali, Punjab, India.
+LA - eng
+PT - Journal Article
+DEP - 20260511
+PL - United Arab Emirates
+TA - CNS Neurol Disord Drug Targets
+JT - CNS & neurological disorders drug targets
+JID - 101269155
+SB - IM
+OTO - NOTNLM
+OT - Huntington disease
+OT - animal model.
+OT - clinical trials
+OT - pathophysiology
+EDAT- 2026/05/19 06:30
+MHDA- 2026/05/19 06:30
+CRDT- 2026/05/19 02:44
+PHST- 2025/06/01 00:00 [received]
+PHST- 2025/09/18 00:00 [revised]
+PHST- 2025/10/06 00:00 [accepted]
+PHST- 2026/05/19 06:30 [medline]
+PHST- 2026/05/19 06:30 [pubmed]
+PHST- 2026/05/19 02:44 [entrez]
+AID - CNSNDDT-EPUB-155511 [pii]
+AID - 10.2174/0118715273413803251211091628 [doi]
+PST - aheadofprint
+SO - CNS Neurol Disord Drug Targets. 2026 May 11. doi:
+ 10.2174/0118715273413803251211091628.
+
+PMID- 42109206
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260511
+LR - 20260515
+IS - 1754-8411 (Electronic)
+IS - 1754-8403 (Linking)
+VI - 19
+IP - 6
+DP - 2026 Jun 1
+TI - Induced pluripotent stem cells from a transgenic minipig model of Huntington's
+ disease reveal early metabolic changes.
+LID - dmm052585 [pii]
+LID - 10.1242/dmm.052585 [doi]
+AB - Huntington's disease (HD) is a neurodegenerative autosomal dominant hereditary
+ disease caused by a CAG triplet repeat expansion mutation in the gene encoding
+ the huntingtin (HTT) protein. The main feature of HD is the loss of striatal
+ neurons, accompanied by metabolic and transcriptional alterations in both neural
+ and peripheral tissues. Induced pluripotent stem cells (iPSCs) derived from a
+ transgenic HD (TgHD) minipig model expressing a mutant HTT construct were
+ generated to investigate early metabolic, antioxidant and DNA integrity changes
+ associated with HD development. Gene expression analysis showed increased
+ expression of vascular endothelial growth factor (VEGF), pyruvate dehydrogenase
+ kinase 1 (PDK1) and glutamine-oxaloacetic transaminase 1 (GOT1), implying early
+ metabolic alteration in TgHD iPSCs. Moreover, upregulated FANCD2/FANCI-associated
+ nuclease 1 (FAN1) expression indicated genotoxic stress linked to early HD
+ development. These findings suggest metabolic shifts and putative genotoxic
+ events in the pluripotent stem cell state of the TgHD model and point to early
+ effect of the HD mutation. The model may be suitable for evaluating potential
+ cell therapy and in vitro differentiation of iPSCs to neurons and other cells
+ affected in HD.
+CI - (c) 2026. Published by The Company of Biologists.
+FAU - Rysankova, Irena
+AU - Rysankova I
+AD - Department of Neurology and Centre of Clinical Neuroscience, First Faculty of
+ Medicine, Charles University in Prague and General University Hospital in Prague,
+ 120 00 Prague, Czech Republic.
+FAU - Sekac, David
+AU - Sekac D
+AD - Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology
+ and Genetics of the Czech Academy of Science, 277 21 Libechov, Czech Republic.
+AD - Department of Cell Biology, Faculty of Science, Charles University in Prague, 128
+ 00 Prague, Czech Republic.
+FAU - Hansikova, Hana
+AU - Hansikova H
+AD - Laboratory for Study of Mitochondrial Disorders, Department of Paediatrics and
+ Adolescent Medicine, First Faculty of Medicine, Charles University and General
+ University Hospital in Prague, 12108 Prague 2, Czech Republic.
+FAU - Kepkova, Katerina Vodickova
+AU - Kepkova KV
+AD - Laboratory of Applied Proteome Analyses, Institute of Animal Physiology and
+ Genetic of the Czech Academy of Sciences, 277 21 Libechov, Czech Republic.
+FAU - Vodicka, Petr
+AU - Vodicka P
+AD - Laboratory of Applied Proteome Analyses, Institute of Animal Physiology and
+ Genetic of the Czech Academy of Sciences, 277 21 Libechov, Czech Republic.
+FAU - Vaskovicova, Michaela
+AU - Vaskovicova M
+AD - Laboratory of DNA integrity, Institute of Animal Physiology and Genetics of the
+ Czech Academy of Science, 277 21 Libechov, Czech Republic.
+FAU - Altmanova, Marie
+AU - Altmanova M
+AD - Laboratory of Fish Genetics, Institute of Animal Physiology and Genetics of the
+ Czech Academy of Science, 277 21 Libechov, Czech Republic.
+FAU - Juhas, Stefan
+AU - Juhas S
+AD - Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology
+ and Genetics of the Czech Academy of Science, 277 21 Libechov, Czech Republic.
+FAU - Juhasova, Jana
+AU - Juhasova J
+AD - Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology
+ and Genetics of the Czech Academy of Science, 277 21 Libechov, Czech Republic.
+FAU - Taborska, Eliska
+AU - Taborska E
+AD - Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology
+ and Genetics of the Czech Academy of Science, 277 21 Libechov, Czech Republic.
+AD - Laboratory of Biotransformation, Institute of Microbiology of the Czech Academy
+ of Sciences, 142 00 Prague, Czech Republic.
+FAU - Klempir, Jiri
+AU - Klempir J
+AD - Department of Neurology and Centre of Clinical Neuroscience, First Faculty of
+ Medicine, Charles University in Prague and General University Hospital in Prague,
+ 120 00 Prague, Czech Republic.
+FAU - Motlik, Jan
+AU - Motlik J
+AD - Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology
+ and Genetics of the Czech Academy of Science, 277 21 Libechov, Czech Republic.
+FAU - Klima, Jiri
+AU - Klima J
+AD - Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology
+ and Genetics of the Czech Academy of Science, 277 21 Libechov, Czech Republic.
+FAU - Eide, Lars
+AU - Eide L
+AD - Department of Medical Biochemistry, Institute of Clinical Medicine, University of
+ Oslo and Oslo University Hospital, 0372 Oslo, Norway.
+FAU - Ellederova, Zdenka
+AU - Ellederova Z
+AUID- ORCID: 0000-0001-6695-6345
+AD - Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology
+ and Genetics of the Czech Academy of Science, 277 21 Libechov, Czech Republic.
+LA - eng
+GR - CHDI Foundation/
+GR - AV21 (VP29)/Akademie Ved Ceske Republiky/
+GR - CZ.02.01.01/00/22_008/0004562/Ministerstvo Skolstvi, Mladeze a Telovychovy/
+GR - Univerzita Karlova v Praze/
+GR - VFN00064165/Ministerstvo Zdravotnictvi Ceske Republiky/
+GR - 9F2400/Ministerstvo Zdravotnictvi Ceske Republiky/
+GR - Ustav zivocisne fyziologie a genetiky AV CR/
+GR - JPND2023-1822-096/EU Joint Programme - Neurodegenerative Disease Research/
+GR - 739510/European Reference Network for Rare Neurological Diseases/
+PT - Journal Article
+DEP - 20260511
+PL - England
+TA - Dis Model Mech
+JT - Disease models & mechanisms
+JID - 101483332
+RN - 0 (Huntingtin Protein)
+RN - 0 (Antioxidants)
+SB - IM
+MH - Animals
+MH - *Huntington Disease/metabolism/pathology/genetics
+MH - *Induced Pluripotent Stem Cells/metabolism/pathology
+MH - Disease Models, Animal
+MH - Swine, Miniature
+MH - Swine
+MH - Animals, Genetically Modified
+MH - Humans
+MH - Huntingtin Protein
+MH - DNA Damage
+MH - Gene Expression Regulation
+MH - Antioxidants/metabolism
+OTO - NOTNLM
+OT - DNA damage
+OT - Gene expression
+OT - Huntington's disease
+OT - Induced pluripotent stem cells
+OT - Mitochondria
+OT - Transgenic minipig model
+COIS- Competing interests The authors declare no competing or financial interests.
+EDAT- 2026/05/11 06:31
+MHDA- 2026/05/11 12:59
+CRDT- 2026/05/11 05:52
+PHST- 2025/07/28 00:00 [received]
+PHST- 2026/02/02 00:00 [accepted]
+PHST- 2026/05/11 12:59 [medline]
+PHST- 2026/05/11 06:31 [pubmed]
+PHST- 2026/05/11 05:52 [entrez]
+AID - 371653 [pii]
+AID - 10.1242/dmm.052585 [doi]
+PST - ppublish
+SO - Dis Model Mech. 2026 Jun 1;19(6):dmm052585. doi: 10.1242/dmm.052585. Epub 2026
+ May 11.
+
+PMID- 42091595
+OWN - NLM
+STAT- Publisher
+LR - 20260512
+IS - 2041-1723 (Electronic)
+IS - 2041-1723 (Linking)
+DP - 2026 May 6
+TI - Double strand breaks drive toxicity in a Huntington's disease mouse model with or
+ without somatic expansion.
+LID - 10.1038/s41467-026-72382-z [doi]
+AB - Genome-wide association studies (GWAS) have provided strong evidence that
+ modifiers of CAG tract length have a crucial influence on Huntington disease
+ onset, but somatic expansion alone may not be sufficient to drive neuronal death.
+ Here, we report that DSBs drive neuropathology in male HdhQ(150/150) mice,
+ regardless of somatic expansion of the inherited disease allele. DSBs and somatic
+ expansion occur simultaneously in the HD brain, but the two types of DNA damage
+ drive disease by distinct mechanisms. The site-specific increases in CAG tract
+ length are driven by active mismatch repair (MMR), while DSBs occur genome-wide
+ and are driven by mutant huntingtin-mediated suppression of nonhomologous joining
+ of DNA broken ends. DSBs and transcriptional dysfunction occur in animals that
+ cannot somatically expand their inherited allele. Conversely, suppression of DSBs
+ is sufficient to reverse neuropathology even when somatic expansion is active. We
+ propose that CAG expansion and DSBs promote downstream neuronal pathology as
+ separable drivers. The disease-length CAG tract leads to early inhibition of DSBR
+ and accumulating DSBs over time ultimately kill neurons.
+CI - (c) 2026. This is a U.S. Government work and not under copyright protection in the
+ US; foreign copyright protection may apply.
+FAU - Polyzos, Aris A
+AU - Polyzos AA
+AD - Division of Molecular Biophysics and Integrated Bioimaging, Lawrence Berkeley
+ National Laboratory, Berkeley, CA, USA. aapolyzos@lbl.gov.
+FAU - Cheong, Ana
+AU - Cheong A
+AUID- ORCID: 0000-0001-7510-1429
+AD - Department of Environmental Health, John B Little Centre of Radiation Sciences,
+ Harvard T.H. Chan School of Public Health, Boston, MA, USA.
+FAU - Yoo, Jung Hyun
+AU - Yoo JH
+AD - Division of Molecular Biophysics and Integrated Bioimaging, Lawrence Berkeley
+ National Laboratory, Berkeley, CA, USA.
+FAU - Blagec, Lana
+AU - Blagec L
+AUID- ORCID: 0009-0001-4683-7821
+AD - Division of Molecular Biophysics and Integrated Bioimaging, Lawrence Berkeley
+ National Laboratory, Berkeley, CA, USA.
+FAU - Nagel, Zachary D
+AU - Nagel ZD
+AUID- ORCID: 0000-0003-2104-2093
+AD - Department of Environmental Health, John B Little Centre of Radiation Sciences,
+ Harvard T.H. Chan School of Public Health, Boston, MA, USA.
+FAU - McMurray, Cynthia T
+AU - McMurray CT
+AUID- ORCID: 0000-0002-4824-6371
+AD - Division of Molecular Biophysics and Integrated Bioimaging, Lawrence Berkeley
+ National Laboratory, Berkeley, CA, USA. ctmcmurray@lbl.gov.
+LA - eng
+GR - 060115/U.S. Department of Health & Human Services | NIH | National Institute of
+ Neurological Disorders and Stroke (NINDS)/
+GR - 066359/U.S. Department of Health & Human Services | NIH | National Institute of
+ General Medical Sciences (NIGMS)/
+PT - Journal Article
+DEP - 20260506
+PL - England
+TA - Nat Commun
+JT - Nature communications
+JID - 101528555
+SB - IM
+UOF - bioRxiv. 2025 May 28:2025.05.27.654663. doi: 10.1101/2025.05.27.654663. PMID:
+ 40501854
+COIS- Competing interests: The authors declare no competing interests.
+EDAT- 2026/05/07 00:32
+MHDA- 2026/05/07 00:32
+CRDT- 2026/05/06 23:14
+PHST- 2025/04/03 00:00 [received]
+PHST- 2026/04/07 00:00 [accepted]
+PHST- 2026/05/07 00:32 [medline]
+PHST- 2026/05/07 00:32 [pubmed]
+PHST- 2026/05/06 23:14 [entrez]
+AID - 10.1038/s41467-026-72382-z [pii]
+AID - 10.1038/s41467-026-72382-z [doi]
+PST - aheadofprint
+SO - Nat Commun. 2026 May 6. doi: 10.1038/s41467-026-72382-z.
+
PMID- 42007924
OWN - NLM
STAT- Publisher
@@ -351,12 +1461,17 @@ SO - NPJ Genom Med. 2026 Apr 9. doi: 10.1038/s41525-026-00567-y.
PMID- 41951733
OWN - NLM
-STAT- Publisher
-LR - 20260421
+STAT- MEDLINE
+DCOM- 20260521
+LR - 20260523
IS - 1476-4687 (Electronic)
+IS - 0028-0836 (Print)
IS - 0028-0836 (Linking)
-DP - 2026 Apr 8
+VI - 653
+IP - 8115
+DP - 2026 May
TI - Population-scale repeat expansions elucidate disease risk and brain atrophy.
+PG - 796-808
LID - 10.1038/s41586-026-10345-6 [doi]
AB - Pathogenic expansions of short tandem repeats (STRs) cause over 70 neurological
diseases(1-3). Here we performed a population-scale survey of pathogenic repeat
@@ -492,7 +1607,32 @@ PL - England
TA - Nature
JT - Nature
JID - 0410462
+RN - 0 (C9orf72 Protein)
+RN - 0 (C9orf72 protein, human)
+RN - 0 (DMPK protein, human)
+RN - 0 (HTT protein, human)
+RN - 0 (Huntingtin Protein)
+RN - 0 (neurofilament protein L)
+RN - 0 (Neurofilament Proteins)
+RN - EC 2.7.11.1 (Myotonin-Protein Kinase)
SB - IM
+MH - Female
+MH - Humans
+MH - Male
+MH - Middle Aged
+MH - Atrophy/genetics
+MH - *Brain/pathology
+MH - C9orf72 Protein/genetics
+MH - Cerebellum/pathology
+MH - *DNA Repeat Expansion
+MH - *Genetic Predisposition to Disease/genetics
+MH - Huntingtin Protein/genetics
+MH - Huntington Disease/genetics/pathology
+MH - *Microsatellite Repeats
+MH - Neurofilament Proteins/metabolism
+MH - Organ Size
+MH - Myotonin-Protein Kinase
+PMC - PMC13190288
COIS- Competing interests: V.K.P., J.H.S., J.H., S.O., V.R., X.B., M.D.K., K.L., X.Z.,
S.Y., L.Z., M.G.L., J.R.-V, F.G., S.W., S.S., F.S., E.A.S., Y.H., M.A., S.C.,
W.S., J.O., J.M., J.R., G.R.A., L.L., A.B., G.C. and S.G. are current employees
@@ -1016,23 +2156,27 @@ IR - Pagan M
FIR - Siceron, Sunilbe
IR - Siceron S
EDAT- 2026/04/09 00:34
-MHDA- 2026/04/09 00:34
+MHDA- 2026/05/21 06:32
+PMCR- 2026/04/08
CRDT- 2026/04/08 23:21
PHST- 2025/05/16 00:00 [received]
PHST- 2026/03/02 00:00 [accepted]
+PHST- 2026/05/21 06:32 [medline]
PHST- 2026/04/09 00:34 [pubmed]
-PHST- 2026/04/09 00:34 [medline]
PHST- 2026/04/08 23:21 [entrez]
+PHST- 2026/04/08 00:00 [pmc-release]
AID - 10.1038/s41586-026-10345-6 [pii]
+AID - 10345 [pii]
AID - 10.1038/s41586-026-10345-6 [doi]
-PST - aheadofprint
-SO - Nature. 2026 Apr 8. doi: 10.1038/s41586-026-10345-6.
+PST - ppublish
+SO - Nature. 2026 May;653(8115):796-808. doi: 10.1038/s41586-026-10345-6. Epub 2026
+ Apr 8.
PMID- 41926793
OWN - NLM
STAT- MEDLINE
DCOM- 20260420
-LR - 20260420
+LR - 20260531
IS - 1090-2104 (Electronic)
IS - 0006-291X (Linking)
VI - 816
@@ -1114,7 +2258,9 @@ AU - Wegrzyn G
AD - Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, Gdansk,
80-308, Poland. Electronic address: grzegorz.wegrzyn@ug.edu.pl.
LA - eng
+SI - BioProject/PRJNA1345724
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20260401
PL - United States
TA - Biochem Biophys Res Commun
@@ -1157,11 +2303,14 @@ SO - Biochem Biophys Res Commun. 2026 Jun 4;816:153711. doi:
PMID- 41916314
OWN - NLM
-STAT- Publisher
-LR - 20260331
+STAT- MEDLINE
+DCOM- 20260509
+LR - 20260509
IS - 2666-6340 (Electronic)
IS - 2666-6340 (Linking)
-DP - 2026 Mar 30
+VI - 7
+IP - 5
+DP - 2026 May 8
TI - Pyramidal signs in Huntington's disease: An early clinical indicator associated
with proximity to disease onset.
PG - 101071
@@ -1228,7 +2377,25 @@ PL - United States
TA - Med
JT - Med (New York, N.Y.)
JID - 101769215
+RN - 0 (Neurofilament Proteins)
+RN - 0 (neurofilament protein L)
+RN - 0 (Biomarkers)
SB - IM
+MH - Humans
+MH - *Huntington Disease/physiopathology/diagnosis/blood
+MH - Male
+MH - Female
+MH - Middle Aged
+MH - Cross-Sectional Studies
+MH - Adult
+MH - Disease Progression
+MH - *Neurofilament Proteins/blood
+MH - Prospective Studies
+MH - Magnetic Resonance Imaging
+MH - Longitudinal Studies
+MH - Biomarkers/blood
+MH - *Pyramidal Tracts/pathology/physiopathology
+MH - Neurologic Examination
OTO - NOTNLM
OT - Huntington's disease
OT - Translation to patients
@@ -1237,18 +2404,18 @@ OT - premanifest
OT - pyramidal signs
COIS- Declaration of interests The authors declare no competing interests.
EDAT- 2026/04/01 00:28
-MHDA- 2026/04/01 00:28
+MHDA- 2026/05/10 05:18
CRDT- 2026/03/31 18:43
PHST- 2025/10/24 00:00 [received]
PHST- 2026/01/13 00:00 [revised]
PHST- 2026/02/27 00:00 [accepted]
-PHST- 2026/04/01 00:28 [medline]
+PHST- 2026/05/10 05:18 [medline]
PHST- 2026/04/01 00:28 [pubmed]
PHST- 2026/03/31 18:43 [entrez]
AID - S2666-6340(26)00074-7 [pii]
AID - 10.1016/j.medj.2026.101071 [doi]
-PST - aheadofprint
-SO - Med. 2026 Mar 30:101071. doi: 10.1016/j.medj.2026.101071.
+PST - ppublish
+SO - Med. 2026 May 8;7(5):101071. doi: 10.1016/j.medj.2026.101071. Epub 2026 Mar 30.
PMID- 41906693
OWN - NLM
@@ -1634,7 +2801,7 @@ PMID- 41850723
OWN - NLM
STAT- MEDLINE
DCOM- 20260318
-LR - 20260414
+LR - 20260601
IS - 2575-1077 (Electronic)
IS - 2575-1077 (Linking)
VI - 9
@@ -1707,7 +2874,11 @@ AD - Division of Neurobiology, Department of Psychiatry and Behavioral Sciences
AD - Departments of Neurology, Neuroscience and Pharmacology, Johns Hopkins University
School of Medicine, Baltimore, MD, USA.
LA - eng
+GR - R21 NS109412/NS/NINDS NIH HHS/United States
+GR - R01 NS08645208/NS/NINDS NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Intramural
+PT - Research Support, Non-U.S. Gov't
DEP - 20260318
PL - United States
TA - Life Sci Alliance
@@ -2695,7 +3866,7 @@ PMID- 41770933
OWN - NLM
STAT- MEDLINE
DCOM- 20260305
-LR - 20260312
+LR - 20260507
IS - 1091-6490 (Electronic)
IS - 0027-8424 (Print)
IS - 0027-8424 (Linking)
@@ -2863,6 +4034,7 @@ GR - NS114065/HHS | NIH | National Institute of Neurological Disorders and Stro
(NINDS)/
GR - R01 NS126420/NS/NINDS NIH HHS/United States
GR - CHDI JSC/CHDI Foundation (CHDI)/
+GR - R01 NS127866/NS/NINDS NIH HHS/United States
GR - NS127866/HHS | NIH | National Institute of Neurological Disorders and Stroke
(NINDS)/
GR - NS049206/HHS | NIH | National Institute of Neurological Disorders and Stroke
@@ -5684,7 +6856,7 @@ PMID- 41361856
OWN - NLM
STAT- MEDLINE
DCOM- 20260212
-LR - 20260214
+LR - 20260512
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
VI - 14
@@ -8990,7 +10162,7 @@ PMID- 40796049
OWN - NLM
STAT- MEDLINE
DCOM- 20250831
-LR - 20260405
+LR - 20260528
IS - 1096-1186 (Electronic)
IS - 1043-6618 (Linking)
VI - 219
@@ -9158,7 +10330,8 @@ JID - 8907422
SB - IM
EIN - Pharmacol Res. 2025 Oct;220:107934. doi: 10.1016/j.phrs.2025.107934. PMID:
40877085
-EIN - Pharmacol Res. 2026 Apr 3:108182. doi: 10.1016/j.phrs.2026.108182. PMID: 41935907
+EIN - Pharmacol Res. 2026 May;227:108182. doi: 10.1016/j.phrs.2026.108182. PMID:
+ 41935907
MH - *Huntington Disease/therapy/physiopathology/genetics
MH - Animals
MH - Humans
@@ -11943,7 +13116,8 @@ SO - bioRxiv [Preprint]. 2025 May 26:2025.05.21.653721. doi:
PMID- 40501854
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20250623
+DCOM- 20260512
+LR - 20260512
IS - 2692-8205 (Electronic)
IS - 2692-8205 (Linking)
DP - 2025 May 28
@@ -11999,6 +13173,7 @@ PL - United States
TA - bioRxiv
JT - bioRxiv : the preprint server for biology
JID - 101680187
+UIN - Nat Commun. 2026 May 6. doi: 10.1038/s41467-026-72382-z. PMID: 42091595
PMC - PMC12154654
COIS- Competing Interest statement The authors declare no competing interests.
EDAT- 2025/06/12 11:15
@@ -12985,7 +14160,7 @@ PMID- 40417743
OWN - NLM
STAT- MEDLINE
DCOM- 20250803
-LR - 20260416
+LR - 20260523
IS - 1530-0366 (Electronic)
IS - 1098-3600 (Print)
IS - 1098-3600 (Linking)
@@ -13110,10 +14285,12 @@ AD - Dr John T. Macdonald Foundation Department of Human Genetics and John P. H
Institute for Human Genetics, University of Miami Miller School of Medicine,
Miami, FL. Electronic address: szuchner@med.miami.edu.
LA - eng
-GR - K99 HG012796/HG/NHGRI NIH HHS/United States
GR - R00 HG012796/HG/NHGRI NIH HHS/United States
-GR - RC2 TR004391/TR/NCATS NIH HHS/United States
GR - U01 NS134353/NS/NINDS NIH HHS/United States
+GR - U01 HG007672/HG/NHGRI NIH HHS/United States
+GR - RC2 TR004391/TR/NCATS NIH HHS/United States
+GR - K99 HG012796/HG/NHGRI NIH HHS/United States
+GR - U01 NS134350/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20250522
PL - United States
@@ -13783,10 +14960,10 @@ CRDT- 2025/05/26 06:18
PHST- 2024/08/07 00:00 [received]
PHST- 2025/05/15 00:00 [revised]
PHST- 2025/05/16 00:00 [accepted]
-PHST- 2026/05/22 00:00 [pmc-release]
PHST- 2025/08/03 12:31 [medline]
PHST- 2025/05/26 12:37 [pubmed]
PHST- 2025/05/26 06:18 [entrez]
+PHST- 2026/05/22 00:00 [pmc-release]
AID - S1098-3600(25)00109-1 [pii]
AID - 10.1016/j.gim.2025.101462 [doi]
PST - ppublish
@@ -14682,7 +15859,7 @@ PMID- 40221975
OWN - NLM
STAT- MEDLINE
DCOM- 20250628
-LR - 20260306
+LR - 20260512
IS - 1879-6400 (Electronic)
IS - 1879-6397 (Print)
IS - 1879-6397 (Linking)
@@ -14791,10 +15968,10 @@ EDAT- 2025/04/13 16:00
MHDA- 2025/07/01 04:46
PMCR- 2026/05/01
CRDT- 2025/04/13 11:42
-PHST- 2026/05/01 00:00 [pmc-release]
PHST- 2025/07/01 04:46 [medline]
PHST- 2025/04/13 16:00 [pubmed]
PHST- 2025/04/13 11:42 [entrez]
+PHST- 2026/05/01 00:00 [pmc-release]
AID - 10.1177/18796397251333334 [doi]
PST - ppublish
SO - J Huntingtons Dis. 2025 May;14(2):132-139. doi: 10.1177/18796397251333334. Epub
@@ -15229,6 +16406,7 @@ STAT- MEDLINE
DCOM- 20250624
LR - 20250817
IS - 1557-7740 (Electronic)
+IS - 1096-6218 (Print)
IS - 1557-7740 (Linking)
VI - 28
IP - 6
@@ -15325,12 +16503,15 @@ OT - Huntington's disease
OT - neuropalliative
OT - phenoconversion
OT - purpose in life
+COIS- Author Disclosure Statement No competing financial interests exist.
EDAT- 2025/03/05 06:22
MHDA- 2025/06/24 11:09
+PMCR- 2025/08/14
CRDT- 2025/03/05 03:23
PHST- 2025/06/24 11:09 [medline]
PHST- 2025/03/05 06:22 [pubmed]
PHST- 2025/03/05 03:23 [entrez]
+PHST- 2025/08/14 00:00 [pmc-release]
AID - 10.1089/jpm.2024.0227 [doi]
PST - ppublish
SO - J Palliat Med. 2025 Jun;28(6):803-807. doi: 10.1089/jpm.2024.0227. Epub 2025 Mar
@@ -17878,7 +19059,7 @@ PMID- 39763784
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20260414
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DP - 2024 Dec 27
@@ -19179,7 +20360,7 @@ PMID- 39614274
OWN - NLM
STAT- MEDLINE
DCOM- 20241130
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IS - 1750-1172 (Electronic)
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VI - 19
@@ -19263,6 +20444,7 @@ CN - HEALTHE-RND consortium
LA - eng
GR - 01ED1903/EU Joint Programme - Neurodegenerative Disease Research/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20241129
PL - England
TA - Orphanet J Rare Dis
@@ -21401,7 +22583,7 @@ PMID- 39115048
OWN - NLM
STAT- MEDLINE
DCOM- 20241022
-LR - 20251102
+LR - 20260528
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IS - 0364-5134 (Print)
IS - 0364-5134 (Linking)
@@ -21483,6 +22665,7 @@ GR - R01 NS055903/NS/NINDS NIH HHS/United States
GR - P50 HD103556/HD/NICHD NIH HHS/United States
GR - U01 NS055903/NS/NINDS NIH HHS/United States
PT - Journal Article
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DEP - 20240808
PL - United States
TA - Ann Neurol
@@ -21524,7 +22707,7 @@ PMID- 39112488
OWN - NLM
STAT- MEDLINE
DCOM- 20240807
-LR - 20240813
+LR - 20260528
IS - 2041-1723 (Electronic)
IS - 2041-1723 (Linking)
VI - 15
@@ -21652,11 +22835,14 @@ AD - Department of Pathology and Cell Biology, Columbia University Irving Medic
AD - Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York,
NY, USA. oa2298@cumc.columbia.edu.
LA - eng
+SI - GEO/GSE242198
GR - P30 AG066462/AG/NIA NIH HHS/United States
GR - R21 AG075754/AG/NIA NIH HHS/United States
-GR - AG075754/U.S. Department of Health & Human Services | NIH | National Institute on
- Aging (U.S. National Institute on Aging)/
+GR - AG075754/U.S. Department of Health & Human Services | NIH | National
+ Institute on Aging (U.S. National Institute on Aging)/
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
+PT - Research Support, Non-U.S. Gov't
DEP - 20240808
PL - England
TA - Nat Commun
@@ -22345,7 +23531,7 @@ SO - Mol Ther Nucleic Acids. 2024 Jun 3;35(3):102234. doi: 10.1016/j.omtn.2024.
PMID- 38948755
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20250617
+LR - 20260507
IS - 2692-8205 (Electronic)
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DP - 2024 Jun 18
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GR - R01 NS049206/NS/NINDS NIH HHS/United States
GR - R01 NS119471/NS/NINDS NIH HHS/United States
GR - R01 NS105709/NS/NINDS NIH HHS/United States
-GR - R01 NS127866/NS/NINDS NIH HHS/United States
GR - R01 NS126420/NS/NINDS NIH HHS/United States
GR - P50 NS016367/NS/NINDS NIH HHS/United States
PT - Journal Article
@@ -25896,7 +27081,7 @@ PMID- 38280392
OWN - NLM
STAT- MEDLINE
DCOM- 20240219
-LR - 20260320
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IS - 1474-4465 (Electronic)
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VI - 23
@@ -27452,6 +28637,7 @@ PST - ppublish
SO - Parkinsonism Relat Disord. 2024 Jan;118:105930. doi:
10.1016/j.parkreldis.2023.105930. Epub 2023 Nov 21.
+
PMID- 37961595
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -28614,7 +29800,7 @@ SO - Psychiatry Res Neuroimaging. 2023 Oct;335:111717. doi:
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OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20240925
+LR - 20260528
IS - 2692-8205 (Electronic)
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DP - 2023 Sep 12
@@ -28759,7 +29945,6 @@ PST - epublish
SO - bioRxiv [Preprint]. 2023 Sep 12:2023.09.08.556867. doi:
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-
PMID- 37744022
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -34883,7 +36068,7 @@ PMID- 36130218
OWN - NLM
STAT- MEDLINE
DCOM- 20230309
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IS - 0964-6906 (Linking)
@@ -38969,7 +40154,7 @@ PMID- 35182509
OWN - NLM
STAT- MEDLINE
DCOM- 20220321
-LR - 20260127
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IS - 1474-4465 (Electronic)
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IS - 1474-4422 (Linking)
@@ -44142,7 +45327,7 @@ PMID- 34372915
OWN - NLM
STAT- MEDLINE
DCOM- 20220216
-LR - 20220216
+LR - 20260518
IS - 1756-994X (Electronic)
IS - 1756-994X (Linking)
VI - 13
@@ -46841,7 +48026,7 @@ PMID- 33766994
OWN - NLM
STAT- MEDLINE
DCOM- 20210615
-LR - 20250909
+LR - 20260518
IS - 1526-632X (Electronic)
IS - 0028-3878 (Print)
IS - 0028-3878 (Linking)
@@ -51138,7 +52323,7 @@ PMID- 33242422
OWN - NLM
STAT- MEDLINE
DCOM- 20210225
-LR - 20260430
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IS - 1097-4199 (Electronic)
IS - 0896-6273 (Print)
IS - 0896-6273 (Linking)
@@ -51470,7 +52655,7 @@ MH - Huntingtin Protein/*genetics
MH - Mutation
MH - Whole Genome Sequencing
PMC - PMC7864894
-MID - NIHMS1651773
+MID - EMS112233
OTO - NOTNLM
OT - amyotrophic lateral sclerosis
OT - frontotemporal dementia
@@ -54747,6 +55932,7 @@ PST - ppublish
SO - Genet Med. 2020 Dec;22(12):2108-2113. doi: 10.1038/s41436-020-0917-z. Epub 2020
Aug 3.
+
PMID- 32702387
OWN - NLM
STAT- MEDLINE
@@ -56151,7 +57337,6 @@ AID - 10.1038/s41598-020-66643-0 [doi]
PST - epublish
SO - Sci Rep. 2020 Jun 17;10(1):9853. doi: 10.1038/s41598-020-66643-0.
-
PMID- 32548276
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -61837,7 +63022,7 @@ PMID- 31398342
OWN - NLM
STAT- MEDLINE
DCOM- 20200508
-LR - 20250530
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IS - 1097-4172 (Electronic)
IS - 0092-8674 (Print)
IS - 0092-8674 (Linking)
@@ -63084,7 +64269,7 @@ PMID- 31059641
OWN - NLM
STAT- MEDLINE
DCOM- 20190701
-LR - 20250530
+LR - 20260518
IS - 1533-4406 (Electronic)
IS - 0028-4793 (Linking)
VI - 380
@@ -64597,7 +65782,7 @@ PMID- 30850442
OWN - NLM
STAT- MEDLINE
DCOM- 20191210
-LR - 20211216
+LR - 20260518
IS - 1526-632X (Electronic)
IS - 0028-3878 (Print)
IS - 0028-3878 (Linking)
@@ -66948,6 +68133,7 @@ STAT- MEDLINE
DCOM- 20200406
LR - 20200613
IS - 1097-0193 (Electronic)
+IS - 1065-9471 (Print)
IS - 1065-9471 (Linking)
VI - 40
IP - 5
@@ -67080,6 +68266,7 @@ OT - subcortical structures
OT - subregion
EDAT- 2018/10/31 06:00
MHDA- 2020/04/09 06:00
+PMCR- 2018/10/30
CRDT- 2018/10/31 06:00
PHST- 2018/03/07 00:00 [received]
PHST- 2018/10/18 00:00 [revised]
@@ -67087,6 +68274,8 @@ PHST- 2018/10/23 00:00 [accepted]
PHST- 2018/10/31 06:00 [pubmed]
PHST- 2020/04/09 06:00 [medline]
PHST- 2018/10/31 06:00 [entrez]
+PHST- 2018/10/30 00:00 [pmc-release]
+AID - HBM24456 [pii]
AID - 10.1002/hbm.24456 [doi]
PST - ppublish
SO - Hum Brain Mapp. 2019 Apr 1;40(5):1419-1433. doi: 10.1002/hbm.24456. Epub 2018 Oct
@@ -69131,7 +70320,7 @@ PMID- 30103338
OWN - NLM
STAT- MEDLINE
DCOM- 20191008
-LR - 20250530
+LR - 20260518
IS - 1879-6400 (Electronic)
IS - 1879-6397 (Linking)
VI - 7
@@ -79091,6 +80280,7 @@ STAT- MEDLINE
DCOM- 20180507
LR - 20250529
IS - 1097-0193 (Electronic)
+IS - 1065-9471 (Print)
IS - 1065-9471 (Linking)
VI - 38
IP - 10
@@ -79220,6 +80410,7 @@ OT - premanifest HD
OT - spatiotemporal order
EDAT- 2017/06/29 06:00
MHDA- 2018/05/08 06:00
+PMCR- 2017/06/28
CRDT- 2017/06/29 06:00
PHST- 2017/04/03 00:00 [received]
PHST- 2017/06/12 00:00 [revised]
@@ -79227,6 +80418,8 @@ PHST- 2017/06/19 00:00 [accepted]
PHST- 2017/06/29 06:00 [pubmed]
PHST- 2018/05/08 06:00 [medline]
PHST- 2017/06/29 06:00 [entrez]
+PHST- 2017/06/28 00:00 [pmc-release]
+AID - HBM23713 [pii]
AID - 10.1002/hbm.23713 [doi]
PST - ppublish
SO - Hum Brain Mapp. 2017 Oct;38(10):5035-5050. doi: 10.1002/hbm.23713. Epub 2017 Jun
@@ -79508,7 +80701,7 @@ PMID- 28642124
OWN - NLM
STAT- MEDLINE
DCOM- 20170904
-LR - 20250530
+LR - 20260518
IS - 1474-4465 (Electronic)
IS - 1474-4422 (Linking)
VI - 16
@@ -84232,6 +85425,7 @@ PST - ppublish
SO - Genetics. 2017 Feb;205(2):503-516. doi: 10.1534/genetics.116.195578. Epub 2016
Dec 2.
+
PMID- 27870408
OWN - NLM
STAT- MEDLINE
@@ -85428,7 +86622,6 @@ AID - 10.3233/JHD-160208 [doi]
PST - ppublish
SO - J Huntingtons Dis. 2016 Oct 1;5(3):271-283. doi: 10.3233/JHD-160208.
-
PMID- 27658206
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -88676,6 +89869,7 @@ STAT- MEDLINE
DCOM- 20170206
LR - 20250307
IS - 1573-6830 (Electronic)
+IS - 0272-4340 (Print)
IS - 0272-4340 (Linking)
VI - 36
IP - 3
@@ -88782,13 +89976,16 @@ OT - Neurodegeneration
OT - Trinucleotide repeat
EDAT- 2016/03/10 06:00
MHDA- 2017/02/07 06:00
+PMCR- 2016/03/07
CRDT- 2016/03/09 06:00
PHST- 2015/11/04 00:00 [received]
PHST- 2016/02/13 00:00 [accepted]
PHST- 2016/03/09 06:00 [entrez]
PHST- 2016/03/10 06:00 [pubmed]
PHST- 2017/02/07 06:00 [medline]
+PHST- 2016/03/07 00:00 [pmc-release]
AID - 10.1007/s10571-016-0350-7 [pii]
+AID - 350 [pii]
AID - 10.1007/s10571-016-0350-7 [doi]
PST - ppublish
SO - Cell Mol Neurobiol. 2016 Apr;36(3):459-70. doi: 10.1007/s10571-016-0350-7. Epub
@@ -90725,7 +91922,7 @@ PMID- 26410751
OWN - NLM
STAT- MEDLINE
DCOM- 20160915
-LR - 20250529
+LR - 20260518
IS - 1432-1459 (Electronic)
IS - 0340-5354 (Print)
IS - 0340-5354 (Linking)
@@ -92079,7 +93276,7 @@ PMID- 26232222
OWN - NLM
STAT- MEDLINE
DCOM- 20151028
-LR - 20250529
+LR - 20260518
IS - 1097-4172 (Electronic)
IS - 0092-8674 (Print)
IS - 0092-8674 (Linking)
@@ -96396,7 +97593,7 @@ PMID- 25453459
OWN - NLM
STAT- MEDLINE
DCOM- 20150206
-LR - 20220321
+LR - 20260518
IS - 1474-4465 (Electronic)
IS - 1474-4422 (Print)
IS - 1474-4422 (Linking)
@@ -98969,7 +100166,7 @@ PMID- 24972706
OWN - NLM
STAT- MEDLINE
DCOM- 20141106
-LR - 20250529
+LR - 20260518
IS - 1460-2156 (Electronic)
IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
@@ -103300,7 +104497,7 @@ PMID- 24000094
OWN - NLM
STAT- MEDLINE
DCOM- 20131230
-LR - 20211021
+LR - 20260518
IS - 2168-6157 (Electronic)
IS - 2168-6149 (Print)
IS - 2168-6149 (Linking)
@@ -104507,7 +105704,7 @@ PMID- 23894380
OWN - NLM
STAT- MEDLINE
DCOM- 20140224
-LR - 20260128
+LR - 20260518
IS - 1932-6203 (Electronic)
IS - 1932-6203 (Linking)
VI - 8
@@ -106179,7 +107376,7 @@ PMID- 23664844
OWN - NLM
STAT- MEDLINE
DCOM- 20130823
-LR - 20220321
+LR - 20260518
IS - 1474-4465 (Electronic)
IS - 1474-4422 (Linking)
VI - 12
@@ -109355,6 +110552,7 @@ PST - ppublish
SO - Hum Mol Genet. 2012 Nov 15;21(22):4939-47. doi: 10.1093/hmg/dds337. Epub 2012 Aug
21.
+
PMID- 22833283
OWN - NLM
STAT- MEDLINE
@@ -109448,6 +110646,7 @@ STAT- MEDLINE
DCOM- 20130218
LR - 20211021
IS - 1420-9071 (Electronic)
+IS - 1420-682X (Print)
IS - 1420-682X (Linking)
VI - 69
IP - 24
@@ -109523,6 +110722,7 @@ PMC - PMC3874886
MID - NIHMS522110
EDAT- 2012/07/21 06:00
MHDA- 2013/02/19 06:00
+PMCR- 2012/07/20
CRDT- 2012/07/21 06:00
PHST- 2011/11/09 00:00 [received]
PHST- 2012/07/03 00:00 [accepted]
@@ -109530,6 +110730,8 @@ PHST- 2012/06/07 00:00 [revised]
PHST- 2012/07/21 06:00 [entrez]
PHST- 2012/07/21 06:00 [pubmed]
PHST- 2013/02/19 06:00 [medline]
+PHST- 2012/07/20 00:00 [pmc-release]
+AID - 1083 [pii]
AID - 10.1007/s00018-012-1083-5 [doi]
PST - ppublish
SO - Cell Mol Life Sci. 2012 Dec;69(24):4191-204. doi: 10.1007/s00018-012-1083-5. Epub
@@ -109725,7 +110927,7 @@ PMID- 22748968
OWN - NLM
STAT- MEDLINE
DCOM- 20130226
-LR - 20220408
+LR - 20260518
IS - 1875-9777 (Electronic)
IS - 1934-5909 (Print)
IS - 1875-9777 (Linking)
@@ -110442,7 +111644,6 @@ AID - 10.1002/pmic.201100380 [doi]
PST - ppublish
SO - Proteomics. 2012 Jun;12(12):2060-4. doi: 10.1002/pmic.201100380.
-
PMID- 22613578
OWN - NLM
STAT- MEDLINE
@@ -112126,7 +113327,7 @@ PMID- 22359536
OWN - NLM
STAT- MEDLINE
DCOM- 20120803
-LR - 20260128
+LR - 20260518
IS - 1932-6203 (Electronic)
IS - 1932-6203 (Linking)
VI - 7
@@ -112478,7 +113679,7 @@ PMID- 22323755
OWN - NLM
STAT- MEDLINE
DCOM- 20120706
-LR - 20250529
+LR - 20260518
IS - 1526-632X (Electronic)
IS - 0028-3878 (Print)
IS - 0028-3878 (Linking)
@@ -114443,6 +115644,7 @@ STAT- MEDLINE
DCOM- 20120222
LR - 20250529
IS - 1529-2401 (Electronic)
+IS - 0270-6474 (Print)
IS - 0270-6474 (Linking)
VI - 32
IP - 1
@@ -114545,11 +115747,14 @@ PMC - PMC3306223
MID - NIHMS347877
EDAT- 2012/01/06 06:00
MHDA- 2012/02/23 06:00
+PMCR- 2012/07/04
CRDT- 2012/01/06 06:00
PHST- 2012/01/06 06:00 [entrez]
PHST- 2012/01/06 06:00 [pubmed]
PHST- 2012/02/23 06:00 [medline]
+PHST- 2012/07/04 00:00 [pmc-release]
AID - 32/1/183 [pii]
+AID - 3732969 [pii]
AID - 10.1523/JNEUROSCI.1305-11.2012 [doi]
PST - ppublish
SO - J Neurosci. 2012 Jan 4;32(1):183-93. doi: 10.1523/JNEUROSCI.1305-11.2012.
@@ -115575,7 +116780,7 @@ PMID- 21989477
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20111019
-LR - 20250529
+LR - 20260518
IS - 2157-3999 (Electronic)
IS - 2157-3999 (Linking)
VI - 3
@@ -116730,7 +117935,7 @@ PMID- 21907324
OWN - NLM
STAT- MEDLINE
DCOM- 20120813
-LR - 20250529
+LR - 20260518
IS - 1873-2402 (Electronic)
IS - 0006-3223 (Print)
IS - 0006-3223 (Linking)
@@ -120519,7 +121724,7 @@ PMID- 20688164
OWN - NLM
STAT- MEDLINE
DCOM- 20110125
-LR - 20250529
+LR - 20260518
IS - 1095-953X (Electronic)
IS - 0969-9961 (Print)
IS - 0969-9961 (Linking)
@@ -123034,7 +124239,7 @@ PMID- 19776381
OWN - NLM
STAT- MEDLINE
DCOM- 20091110
-LR - 20110131
+LR - 20260518
IS - 1526-632X (Electronic)
IS - 0028-3878 (Linking)
VI - 73
@@ -123838,7 +125043,7 @@ PMID- 19652143
OWN - NLM
STAT- MEDLINE
DCOM- 20090902
-LR - 20220321
+LR - 20260518
IS - 1526-632X (Electronic)
IS - 0028-3878 (Print)
IS - 0028-3878 (Linking)
@@ -126455,7 +127660,7 @@ PMID- 19064745
OWN - NLM
STAT- MEDLINE
DCOM- 20090408
-LR - 20250522
+LR - 20260518
IS - 1538-3687 (Electronic)
IS - 0003-9942 (Linking)
VI - 65
@@ -127087,7 +128292,7 @@ PMID- 18981372
OWN - NLM
STAT- MEDLINE
DCOM- 20081118
-LR - 20220321
+LR - 20260518
IS - 1526-632X (Electronic)
IS - 0028-3878 (Linking)
VI - 71
@@ -132836,6 +134041,7 @@ AID - 10.1385/jmn/31:02:139 [doi]
PST - ppublish
SO - J Mol Neurosci. 2007;31(2):139-48. doi: 10.1385/jmn/31:02:139.
+
PMID- 17427191
OWN - NLM
STAT- MEDLINE
@@ -133710,7 +134916,6 @@ AID - 10.1016/j.ahj.2006.12.011 [doi]
PST - ppublish
SO - Am Heart J. 2007 Mar;153(3):426-32. doi: 10.1016/j.ahj.2006.12.011.
-
PMID- 17299512
OWN - NLM
STAT- MEDLINE
@@ -151498,6 +152703,7 @@ PST - ppublish
SO - Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29;354(1386):1035-45. doi:
10.1098/rstb.1999.0456.
+
PMID- 10434297
OWN - NLM
STAT- MEDLINE
@@ -152418,7 +153624,6 @@ AID - 10.1093/hmg/8.5.763 [doi]
PST - ppublish
SO - Hum Mol Genet. 1999 May;8(5):763-74. doi: 10.1093/hmg/8.5.763.
-
PMID- 10098889
OWN - NLM
STAT- MEDLINE
diff --git a/data/literature/LRP12_batch_01.txt b/data/literature/LRP12_batch_01.txt
index 4d8b8a5c..1f4265f5 100644
--- a/data/literature/LRP12_batch_01.txt
+++ b/data/literature/LRP12_batch_01.txt
@@ -142,7 +142,7 @@ PMID- 41792844
OWN - NLM
STAT- MEDLINE
DCOM- 20260415
-LR - 20260423
+LR - 20260511
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
VI - 14
@@ -205,6 +205,10 @@ AD - Department of Neurology, Washington University School of Medicine, Saint L
MO, USA. weihlc@wustl.edu.
LA - eng
GR - R01 NS086810/NS/NINDS NIH HHS/United States
+GR - R01 AG031867/AG/NIA NIH HHS/United States
+GR - K24 AR073317/AR/NIAMS NIH HHS/United States
+GR - P50 HD104463/HD/NICHD NIH HHS/United States
+GR - R21 NS129096/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20260306
PL - England
@@ -487,15 +491,20 @@ SO - Intern Med. 2025 Oct 23. doi: 10.2169/internalmedicine.6194-25.
PMID- 40645757
OWN - NLM
-STAT- Publisher
-LR - 20250711
+STAT- MEDLINE
+DCOM- 20260514
+LR - 20260530
IS - 1468-330X (Electronic)
+IS - 0022-3050 (Print)
IS - 0022-3050 (Linking)
-DP - 2025 Jul 11
+VI - 97
+IP - 6
+DP - 2026 May 14
TI - CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000
Genomes Project.
-LID - jnnp-2025-336590 [pii]
+PG - 479-482
LID - 10.1136/jnnp-2025-336590 [doi]
+LID - e336590
AB - BACKGROUND: CGG expansions in NOTCH2NLC and LRP12 were recently identified as a
cause of Charcot-Marie-Tooth disease (CMT) in 1.2%-10.6% of genetically
undiagnosed patients in China, Taiwan and Japan. However, their relevance in CMT
@@ -517,7 +526,7 @@ AB - BACKGROUND: CGG expansions in NOTCH2NLC and LRP12 were recently identified
non-pathogenic intermediate alleles of NOTCH2NLC and LRP12 in East Asians could
explain their ancestry-specific propensity to further expand into the full
pathogenic range.
-CI - (c) Author(s) (or their employer(s)) 2025. Re-use permitted under CC BY. Published
+CI - (c) Author(s) (or their employer(s)) 2026. Re-use permitted under CC BY. Published
by BMJ Group.
FAU - Bertini, Alessandro
AU - Bertini A
@@ -580,29 +589,47 @@ AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurol
London, UK andrea.cortese@ucl.ac.uk.
LA - eng
PT - Journal Article
-DEP - 20250711
+DEP - 20260514
PL - England
TA - J Neurol Neurosurg Psychiatry
JT - Journal of neurology, neurosurgery, and psychiatry
JID - 2985191R
+RN - 0 (NOTCH2NLC protein, human)
+RN - 0 (LDL-Receptor Related Proteins)
+RN - 0 (Nerve Tissue Proteins)
+RN - 0 (Intercellular Signaling Peptides and Proteins)
SB - IM
+MH - Humans
+MH - *Charcot-Marie-Tooth Disease/genetics
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Male
+MH - Female
+MH - Whole Genome Sequencing
+MH - LDL-Receptor Related Proteins/genetics
+MH - Adult
+MH - Asian People/genetics
+MH - Nerve Tissue Proteins
+MH - Intercellular Signaling Peptides and Proteins
+PMC - PMC13217079
OTO - NOTNLM
OT - NEUROGENETICS
OT - NEUROMUSCULAR
OT - NEUROPATHY
COIS- Competing interests: None declared.
EDAT- 2025/07/12 16:44
-MHDA- 2025/07/12 16:44
+MHDA- 2026/05/15 00:31
+PMCR- 2026/05/28
CRDT- 2025/07/11 21:13
PHST- 2025/04/24 00:00 [received]
PHST- 2025/06/11 00:00 [accepted]
-PHST- 2025/07/12 16:44 [medline]
+PHST- 2026/05/15 00:31 [medline]
PHST- 2025/07/12 16:44 [pubmed]
PHST- 2025/07/11 21:13 [entrez]
+PHST- 2026/05/28 00:00 [pmc-release]
AID - jnnp-2025-336590 [pii]
AID - 10.1136/jnnp-2025-336590 [doi]
-PST - aheadofprint
-SO - J Neurol Neurosurg Psychiatry. 2025 Jul 11:jnnp-2025-336590. doi:
+PST - epublish
+SO - J Neurol Neurosurg Psychiatry. 2026 May 14;97(6):479-482. doi:
10.1136/jnnp-2025-336590.
PMID- 40417202
@@ -1019,7 +1046,7 @@ PMID- 38726482
OWN - NLM
STAT- MEDLINE
DCOM- 20240724
-LR - 20241231
+LR - 20260512
IS - 2167-9223 (Electronic)
IS - 2167-8421 (Linking)
VI - 25
@@ -1097,7 +1124,14 @@ AUID- ORCID: 0000-0001-6319-9473
AD - Macquarie University Motor Neuron Disease Research Centre, Faculty of Medicine,
Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, Australia.
LA - eng
+SI - dbGaP/phs001368.v3.p2
+SI - dbGaP/phs001402.v3.p1
+SI - dbGaP/phs001725.v2.p1
+SI - dbGaP/phs001024.v5.p1
+SI - dbGaP/phs001544.v2.p1
+SI - dbGaP/phs001598.v2.p1
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20240510
PL - England
TA - Amyotroph Lateral Scler Frontotemporal Degener
diff --git a/data/literature/MARCHF6_batch_01.txt b/data/literature/MARCHF6_batch_01.txt
index e1fa4743..d0798a7b 100644
--- a/data/literature/MARCHF6_batch_01.txt
+++ b/data/literature/MARCHF6_batch_01.txt
@@ -334,7 +334,7 @@ PMID- 40788430
OWN - NLM
STAT- MEDLINE
DCOM- 20250811
-LR - 20260326
+LR - 20260529
IS - 1364-6753 (Electronic)
IS - 1364-6745 (Print)
IS - 1364-6745 (Linking)
@@ -434,9 +434,6 @@ AD - Department of Pediatrics, Division of Medical Genetics and Genomic Medicin
LA - eng
GR - R01 GM140287/GM/NIGMS NIH HHS/United States
GR - R01 HG011138/HG/NHGRI NIH HHS/United States
-GR - U01 HG007674/HG/NHGRI NIH HHS/United States
-GR - U01 NS134349/NS/NINDS NIH HHS/United States
-GR - P50 HD103537/HD/NICHD NIH HHS/United States
GR - R01 MH126459/MH/NIMH NIH HHS/United States
GR - R56 AG089926/AG/NIA NIH HHS/United States
PT - Case Reports
@@ -492,7 +489,7 @@ PMID- 40417743
OWN - NLM
STAT- MEDLINE
DCOM- 20250803
-LR - 20260416
+LR - 20260523
IS - 1530-0366 (Electronic)
IS - 1098-3600 (Print)
IS - 1098-3600 (Linking)
@@ -617,10 +614,12 @@ AD - Dr John T. Macdonald Foundation Department of Human Genetics and John P. H
Institute for Human Genetics, University of Miami Miller School of Medicine,
Miami, FL. Electronic address: szuchner@med.miami.edu.
LA - eng
-GR - K99 HG012796/HG/NHGRI NIH HHS/United States
GR - R00 HG012796/HG/NHGRI NIH HHS/United States
-GR - RC2 TR004391/TR/NCATS NIH HHS/United States
GR - U01 NS134353/NS/NINDS NIH HHS/United States
+GR - U01 HG007672/HG/NHGRI NIH HHS/United States
+GR - RC2 TR004391/TR/NCATS NIH HHS/United States
+GR - K99 HG012796/HG/NHGRI NIH HHS/United States
+GR - U01 NS134350/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20250522
PL - United States
@@ -1290,10 +1289,10 @@ CRDT- 2025/05/26 06:18
PHST- 2024/08/07 00:00 [received]
PHST- 2025/05/15 00:00 [revised]
PHST- 2025/05/16 00:00 [accepted]
-PHST- 2026/05/22 00:00 [pmc-release]
PHST- 2025/08/03 12:31 [medline]
PHST- 2025/05/26 12:37 [pubmed]
PHST- 2025/05/26 06:18 [entrez]
+PHST- 2026/05/22 00:00 [pmc-release]
AID - S1098-3600(25)00109-1 [pii]
AID - 10.1016/j.gim.2025.101462 [doi]
PST - ppublish
@@ -1596,7 +1595,7 @@ PMID- 31664039
OWN - NLM
STAT- MEDLINE
DCOM- 20200225
-LR - 20231014
+LR - 20260518
IS - 2041-1723 (Electronic)
IS - 2041-1723 (Linking)
VI - 10
diff --git a/data/literature/MUC1_batch_01.txt b/data/literature/MUC1_batch_01.txt
index 8171e56c..14f9afcd 100644
--- a/data/literature/MUC1_batch_01.txt
+++ b/data/literature/MUC1_batch_01.txt
@@ -1,4 +1,128 @@
+PMID- 42175825
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260523
+LR - 20260526
+IS - 1095-8355 (Electronic)
+IS - 1065-6995 (Linking)
+VI - 50
+IP - 6
+DP - 2026 Jun
+TI - Establishment and Molecular Characterization of a Short-Term Primary Culture
+ Derived From Invasive Micropapillary Carcinoma of the Breast.
+PG - e70167
+LID - 10.1002/cbin.70167 [doi]
+AB - Invasive micropapillary carcinoma (IMPC) of the breast, a rare and aggressive
+ subtype, represents a unique morphology of reversed polarity with higher
+ metastatic propensity. Due to the limited availability of experimental models,
+ understanding distinct molecular pathways and potential therapeutic targets
+ remains challenging. This study aimed to establish patient-derived cell cultures
+ (PDCs) from IMPC to generate viable models for in-vitro studies. Tissue samples
+ from five IMPC cases were enzymatically disaggregated using five different cell
+ disaggregation protocols. These cells were characterized using
+ immunofluorescence, short tandem repeats profiling, and real-time assays for
+ tumor marker expression profiles. RNA sequencing was performed and compared with
+ invasive ductal carcinoma, no special type (IDC-NST), to study differential gene
+ expression and cell polarity markers. Two short-term PDCs were successfully
+ established from IMPC samples with an optimized collagenase-based protocol. These
+ cultures showed an immunohistochemical profile consistent with the original tumor
+ tissues and maintained hormone receptor and MUC1 expression status. RNA
+ sequencing of PDCs revealed similar gene expression patterns with matched tumor
+ tissue and revealed upregulated RAP1, MAPK, and PI3K-AKT pathways, when compared
+ with ER/PR-matched IDC. These PDCs also showed different gene expression patterns
+ in cell-polarity associated genes, such as cadherins CDH2, tight junction gene
+ MARVELD2, PAR complex gene PARD6B, and downregulation of the cell polarity CRB2
+ gene. This study indicated the need for an optimization of cell culture
+ conditions and the feasibility of establishing patient-derived cell cultures from
+ IMPC. These models provide a great tool to study molecular insights, cell
+ polarity, and therapeutic research in a rare breast cancer subtype.
+CI - (c) 2026 International Federation of Cell Biology.
+FAU - Gurav, Mamta
+AU - Gurav M
+AUID- ORCID: 0000-0002-8618-6314
+AD - Molecular Pathology Laboratory, Department of Pathology, Tata Memorial Hospital,
+ Mumbai, Maharashtra, India.
+AD - Homi Bhabha National Institute, Training School Complex, Mumbai, Maharashtra,
+ India.
+FAU - Shetty, Omshree
+AU - Shetty O
+AUID- ORCID: 0000-0003-1996-4347
+AD - Molecular Pathology Laboratory, Department of Pathology, Tata Memorial Hospital,
+ Mumbai, Maharashtra, India.
+AD - Homi Bhabha National Institute, Training School Complex, Mumbai, Maharashtra,
+ India.
+FAU - Joshi, Shalaka
+AU - Joshi S
+AUID- ORCID: 0000-0003-3813-4680
+AD - Homi Bhabha National Institute, Training School Complex, Mumbai, Maharashtra,
+ India.
+AD - Department of Surgical Oncology, Tata Memorial Hospital, Mumbai, Maharashtra,
+ India.
+FAU - Gulia, Seema
+AU - Gulia S
+AUID- ORCID: 0000-0001-5871-7395
+AD - Homi Bhabha National Institute, Training School Complex, Mumbai, Maharashtra,
+ India.
+AD - Department of Medical Oncology, Homi Bhabha Cancer Hospital and Research Center,
+ Mullanpur, Punjab, India.
+FAU - Chaubal, Rohan
+AU - Chaubal R
+AUID- ORCID: 0000-0002-7226-8757
+AD - Homi Bhabha National Institute, Training School Complex, Mumbai, Maharashtra,
+ India.
+AD - Department of Medical Oncology, Tata Memorial Centre, Mumbai, Maharashtra, India.
+FAU - Gupta, Sudeep
+AU - Gupta S
+AUID- ORCID: 0000-0002-6742-6378
+AD - Homi Bhabha National Institute, Training School Complex, Mumbai, Maharashtra,
+ India.
+AD - Department of Medical Oncology, Tata Memorial Centre, Mumbai, Maharashtra, India.
+FAU - Shet, Tanuja
+AU - Shet T
+AUID- ORCID: 0000-0001-9294-9704
+AD - Molecular Pathology Laboratory, Department of Pathology, Tata Memorial Hospital,
+ Mumbai, Maharashtra, India.
+AD - Homi Bhabha National Institute, Training School Complex, Mumbai, Maharashtra,
+ India.
+LA - eng
+GR - Institutional Ethics Committee of Tata Memorial Centre, Mumbai, India/
+PT - Journal Article
+PL - England
+TA - Cell Biol Int
+JT - Cell biology international
+JID - 9307129
+RN - 0 (Biomarkers, Tumor)
+SB - IM
+MH - Humans
+MH - *Breast Neoplasms/pathology/genetics/metabolism
+MH - Female
+MH - *Carcinoma, Papillary/pathology/genetics/metabolism
+MH - Gene Expression Regulation, Neoplastic
+MH - Biomarkers, Tumor/metabolism/genetics
+MH - Middle Aged
+MH - *Primary Cell Culture/methods
+MH - Carcinoma, Ductal, Breast/pathology/genetics/metabolism
+MH - Tumor Cells, Cultured
+MH - Aged
+OTO - NOTNLM
+OT - RNA sequencing
+OT - breast
+OT - micropapillary
+OT - patient-derived culture
+EDAT- 2026/05/24 04:35
+MHDA- 2026/05/24 04:36
+CRDT- 2026/05/23 07:52
+PHST- 2026/05/11 00:00 [revised]
+PHST- 2026/01/02 00:00 [received]
+PHST- 2026/05/16 00:00 [accepted]
+PHST- 2026/05/24 04:36 [medline]
+PHST- 2026/05/24 04:35 [pubmed]
+PHST- 2026/05/23 07:52 [entrez]
+AID - 10.1002/cbin.70167 [doi]
+PST - ppublish
+SO - Cell Biol Int. 2026 Jun;50(6):e70167. doi: 10.1002/cbin.70167.
+
PMID- 41961547
OWN - NLM
STAT- Publisher
@@ -273,7 +397,7 @@ PMID- 41832605
OWN - NLM
STAT- MEDLINE
DCOM- 20260422
-LR - 20260422
+LR - 20260531
IS - 1542-0086 (Electronic)
IS - 0006-3495 (Linking)
VI - 125
@@ -344,6 +468,8 @@ AD - Department of Biomedical Engineering, The University of Texas at Austin, A
Texas; McKetta Department of Chemical Engineering, The University of Texas at
Austin, Austin, Texas. Electronic address: jcstach@austin.utexas.edu.
LA - eng
+GR - R24 GM137782/GM/NIGMS NIH HHS/United States
+GR - R35 GM139531/GM/NIGMS NIH HHS/United States
PT - Journal Article
DEP - 20260313
PL - United States
@@ -5820,6 +5946,7 @@ STAT- MEDLINE
DCOM- 20140415
LR - 20250529
IS - 1432-0851 (Electronic)
+IS - 0340-7004 (Print)
IS - 0340-7004 (Linking)
VI - 63
IP - 2
@@ -5894,14 +6021,18 @@ MH - Neoplasms/immunology
MH - Peptide Fragments/*immunology
PMC - PMC6383519
MID - NIHMS1003634
+COIS- The authors declare that they have no conflicts of interest.
EDAT- 2013/11/16 06:00
MHDA- 2014/04/16 06:00
+PMCR- 2013/11/15
CRDT- 2013/11/16 06:00
PHST- 2013/07/19 00:00 [received]
PHST- 2013/10/19 00:00 [accepted]
PHST- 2013/11/16 06:00 [entrez]
PHST- 2013/11/16 06:00 [pubmed]
PHST- 2014/04/16 06:00 [medline]
+PHST- 2013/11/15 00:00 [pmc-release]
+AID - 1494 [pii]
AID - 10.1007/s00262-013-1494-7 [doi]
PST - ppublish
SO - Cancer Immunol Immunother. 2014 Feb;63(2):161-74. doi: 10.1007/s00262-013-1494-7.
diff --git a/data/literature/NIPA1_batch_01.txt b/data/literature/NIPA1_batch_01.txt
index 4a7fc63c..dbd81521 100644
--- a/data/literature/NIPA1_batch_01.txt
+++ b/data/literature/NIPA1_batch_01.txt
@@ -945,7 +945,7 @@ SO - Eur J Hum Genet. 2021 Apr;29(4):604-614. doi: 10.1038/s41431-020-00767-9.
PMID- 32954321
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20250530
+LR - 20260518
IS - 2632-1297 (Electronic)
IS - 2632-1297 (Linking)
VI - 2
diff --git a/data/literature/NOP56_batch_01.txt b/data/literature/NOP56_batch_01.txt
index 1c9c7be8..112ac3fd 100644
--- a/data/literature/NOP56_batch_01.txt
+++ b/data/literature/NOP56_batch_01.txt
@@ -1901,7 +1901,7 @@ SO - Mol Biol Rep. 2024 Jan 16;51(1):113. doi: 10.1007/s11033-023-09023-x.
PMID- 37810464
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20250530
+LR - 20260518
IS - 2632-1297 (Electronic)
IS - 2632-1297 (Linking)
VI - 5
diff --git a/data/literature/NOTCH2NLC_batch_01.txt b/data/literature/NOTCH2NLC_batch_01.txt
index 8b528583..9a1966a0 100644
--- a/data/literature/NOTCH2NLC_batch_01.txt
+++ b/data/literature/NOTCH2NLC_batch_01.txt
@@ -1,4 +1,114 @@
+PMID- 42177789
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260524
+LR - 20260524
+IS - 1943-7722 (Electronic)
+IS - 0002-9173 (Linking)
+VI - 165
+IP - 5
+DP - 2026 May 5
+TI - Re-evaluating archival specimens as a pathologic diagnostic resource for neuronal
+ intranuclear inclusion disease.
+LID - aqag041 [pii]
+LID - 10.1093/ajcp/aqag041 [doi]
+AB - OBJECTIVES: Neuronal intranuclear inclusion disease (NIID) is a multisystem
+ neurodegenerative disorder caused by GGC repeat expansions in the NOTCH2NLC gene.
+ Although genetic testing has improved diagnostic efficiency, histopathologic
+ confirmation remains essential. We investigated whether routine archival surgical
+ specimens could serve as an alternative pathologic resource for NIID diagnosis.
+ METHODS: We retrospectively analyzed archival formalin-fixed, paraffin-embedded
+ specimens from patients with genetically confirmed NIID, including gastric
+ antrum, colon, gallbladder, prostate, and kidney tissues. Hematoxylin-eosin
+ staining and immunofluorescence for p62 and uN2CpolyG were performed to identify
+ characteristic intranuclear inclusions. Histopathologic evaluation was conducted
+ in a blinded manner and compared with non-neurologic control tissues. RESULTS:
+ Characteristic eosinophilic intranuclear inclusions positive for p62 and
+ uN2CpolyG were detected in all NIID archival specimens but not in control
+ tissues. These inclusions were consistently identified across gastrointestinal
+ and urogenital tissues, including small endoscopic biopsy samples.
+ Ultrastructural examination further demonstrated dense filamentous intranuclear
+ material in gastric tissue. Notably, inclusions were preferentially localized to
+ fibroblasts and smooth muscle cells within the lamina propria and muscularis
+ mucosae, whereas epithelial cells were consistently spared. Detection was not
+ apparently affected by tissue type or storage duration. CONCLUSIONS: Routine
+ archival surgical specimens may provide a readily available pathologic resource
+ that avoids additional invasive biopsy for confirming NIID. Their consistent
+ cellular distribution pattern may also facilitate recognition of diagnostic
+ inclusions in routine pathology practice.
+CI - (c) The Author(s) 2026. Published by Oxford University Press on behalf of American
+ Society for Clinical Pathology. All rights reserved. For commercial re-use,
+ please contact reprints@oup.com for reprints and translation rights for reprints.
+ All other permissions can be obtained through our RightsLink service via the
+ Permissions link on the article page on our site-for further information please
+ contact journals.permissions@oup.com.
+FAU - Lian, Yangye
+AU - Lian Y
+AD - Department of Neurology, Zhongshan Hospital, Fudan University, Shanghai, China.
+FAU - Zhong, Shaoping
+AU - Zhong S
+AUID- ORCID: 0000-0003-4133-1159
+AD - Department of Neurology, Zhongshan Hospital, Fudan University, Shanghai, China.
+FAU - Liang, Jingzhen
+AU - Liang J
+AD - Department of Neurology, Zhongshan Hospital, Fudan University, Shanghai, China.
+FAU - Xu, Ke
+AU - Xu K
+AD - Department of Neurology, Zhongshan Hospital, Fudan University, Shanghai, China.
+AD - Department of Neurology, Shanghai Geriatric Medical Center, Shanghai, China.
+FAU - Wang, Xin
+AU - Wang X
+AD - Department of Neurology, Zhongshan Hospital, Fudan University, Shanghai, China.
+AD - The State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for
+ Brain Science, Institutes of Brain Science, Fudan University, Shanghai, China.
+FAU - Ji, Yuan
+AU - Ji Y
+AD - Precision Medical Center, Zhongshan Hospital, Fudan University, Shanghai, China.
+FAU - Ding, Jing
+AU - Ding J
+AUID- ORCID: 0000-0001-5135-4210
+AD - Department of Neurology, Zhongshan Hospital, Fudan University, Shanghai, China.
+AD - CAS Center for Excellence in Brain Science and Intelligence Technology, Shanghai,
+ China.
+LA - eng
+GR - 82301603/National Natural Science Foundation of China/
+GR - 2023TQ0078/China Postdoctoral Science Foundation/
+GR - 2023M730676/China Postdoctoral Science Foundation/
+PT - Journal Article
+PL - England
+TA - Am J Clin Pathol
+JT - American journal of clinical pathology
+JID - 0370470
+RN - Neuronal intranuclear inclusion disease
+SB - IM
+MH - Humans
+MH - *Intranuclear Inclusion Bodies/pathology
+MH - Retrospective Studies
+MH - Male
+MH - *Neurodegenerative Diseases/diagnosis/pathology/genetics
+MH - Female
+MH - Middle Aged
+MH - Aged
+MH - Adult
+OTO - NOTNLM
+OT - archival specimens
+OT - neuronal intranuclear inclusion disease
+OT - pathology diagnosis
+OT - polyglycine
+EDAT- 2026/05/24 18:32
+MHDA- 2026/05/24 18:33
+CRDT- 2026/05/24 14:23
+PHST- 2026/03/10 00:00 [received]
+PHST- 2026/03/25 00:00 [accepted]
+PHST- 2026/05/24 18:33 [medline]
+PHST- 2026/05/24 18:32 [pubmed]
+PHST- 2026/05/24 14:23 [entrez]
+AID - 8691697 [pii]
+AID - 10.1093/ajcp/aqag041 [doi]
+PST - ppublish
+SO - Am J Clin Pathol. 2026 May 5;165(5):aqag041. doi: 10.1093/ajcp/aqag041.
+
PMID- 42058219
OWN - NLM
STAT- MEDLINE
@@ -509,6 +619,157 @@ PST - epublish
SO - Cureus. 2026 Mar 19;18(3):e105488. doi: 10.7759/cureus.105488. eCollection 2026
Mar.
+PMID- 42001002
+OWN - NLM
+STAT- In-Process
+LR - 20260531
+IS - 1471-2377 (Electronic)
+IS - 1471-2377 (Linking)
+VI - 26
+IP - 1
+DP - 2026 Apr 18
+TI - Subclinical peripheral nerve demyelination without overt symptoms in a family
+ with neuronal intranuclear inclusion disease harboring biallelic repeat
+ expansions.
+LID - 10.1186/s12883-026-04898-2 [doi]
+LID - 354
+AB - Neuronal intranuclear inclusion disease (NIID) is a rare, progressive
+ neurodegenerative disorder caused by abnormal GGC repeat expansions in the
+ NOTCH2NLC gene, leading to multisystem involvement. Electrophysiological
+ abnormalities in NIID have gained increasing attention in recent years. However,
+ subclinical peripheral neuropathy preceding the onset of typical NIID
+ manifestations has not been reported. In this study, we systematically evaluated
+ the clinical characteristics of a family carrying pathogenic NOTCH2NLC
+ expansions. Electrophysiological assessments revealed demyelinating changes in
+ some family members, with or without the classic clinical features of NIID.
+ Notably, one individual with biallelic NOTCH2NLC GGC repeat expansions exhibited
+ subclinical peripheral neuropathy in the absence of overt NIID symptoms. As NIID
+ is typically inherited in an autosomal dominant manner, cases with biallelic GGC
+ repeat expansions are exceedingly rare. To explore the genotype-phenotype
+ relationship, we employed long-read whole-genome sequencing using Oxford Nanopore
+ and Pacific Biosciences (PacBio) technologies. Our results suggest that biallelic
+ repeat expansions do not necessarily exacerbate the severity or progression of
+ NIID. Although larger studies are warranted to confirm these findings, this
+ investigation broadens the clinical and genetic spectrum of NIID and provides new
+ insights into its underlying pathogenesis. SUPPLEMENTARY INFORMATION: The online
+ version contains supplementary material available at 10.1186/s12883-026-04898-2.
+FAU - Zhang, Hang
+AU - Zhang H
+AD - Department of Neurology, The First Affiliated Hospital of Zhengzhou University,
+ Zhengzhou University, Jian-She East Road, Zhengzhou, Henan, 450052, China.
+AD - Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital
+ of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
+FAU - Zhao, Taiqi
+AU - Zhao T
+AD - Department of Neurology, The First Affiliated Hospital of Zhengzhou University,
+ Zhengzhou University, Jian-She East Road, Zhengzhou, Henan, 450052, China.
+AD - Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital
+ of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
+FAU - Zheng, Honglin
+AU - Zheng H
+AD - Department of Neurology, The First Affiliated Hospital of Zhengzhou University,
+ Zhengzhou University, Jian-She East Road, Zhengzhou, Henan, 450052, China.
+AD - The Academy of Medical Sciences of Zhengzhou University, Zhengzhou University,
+ Zhengzhou, Henan, China.
+FAU - Duan, Suying
+AU - Duan S
+AD - Department of Neurology, The First Affiliated Hospital of Zhengzhou University,
+ Zhengzhou University, Jian-She East Road, Zhengzhou, Henan, 450052, China.
+AD - Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital
+ of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
+FAU - Liu, Chenyang
+AU - Liu C
+AD - Department of Neurology, The First Affiliated Hospital of Zhengzhou University,
+ Zhengzhou University, Jian-She East Road, Zhengzhou, Henan, 450052, China.
+AD - Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital
+ of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
+FAU - Zhang, Yaochong
+AU - Zhang Y
+AD - Department of Neurology, The First Affiliated Hospital of Zhengzhou University,
+ Zhengzhou University, Jian-She East Road, Zhengzhou, Henan, 450052, China.
+AD - Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital
+ of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
+FAU - Li, Qiang
+AU - Li Q
+AD - Department of Neurology, The First Affiliated Hospital of Zhengzhou University,
+ Zhengzhou University, Jian-She East Road, Zhengzhou, Henan, 450052, China.
+AD - Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital
+ of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
+FAU - Liu, Han
+AU - Liu H
+AD - Department of Neurology, The First Affiliated Hospital of Zhengzhou University,
+ Zhengzhou University, Jian-She East Road, Zhengzhou, Henan, 450052, China.
+ fccliuh2@zzu.edu.cn.
+AD - Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital
+ of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
+ fccliuh2@zzu.edu.cn.
+AD - Institute of Neuroscience, Zhengzhou University, Zhengzhou, Henan, China.
+ fccliuh2@zzu.edu.cn.
+FAU - Luo, Haiyang
+AU - Luo H
+AD - Department of Neurology, The First Affiliated Hospital of Zhengzhou University,
+ Zhengzhou University, Jian-She East Road, Zhengzhou, Henan, 450052, China.
+ fccluohy@zzu.edu.cn.
+AD - Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital
+ of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
+ fccluohy@zzu.edu.cn.
+AD - Institute of Neuroscience, Zhengzhou University, Zhengzhou, Henan, China.
+ fccluohy@zzu.edu.cn.
+FAU - Xu, Yuming
+AU - Xu Y
+AD - Department of Neurology, The First Affiliated Hospital of Zhengzhou University,
+ Zhengzhou University, Jian-She East Road, Zhengzhou, Henan, 450052, China.
+ xuyuming@zzu.edu.cn.
+AD - Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital
+ of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
+ xuyuming@zzu.edu.cn.
+AD - Institute of Neuroscience, Zhengzhou University, Zhengzhou, Henan, China.
+ xuyuming@zzu.edu.cn.
+LA - eng
+GR - U1904207/the National Natural Science Foundation of China/
+GR - 2020-PT310-01/the Non-profit Central Research Institute Fund of Chinese Academy
+ of Medical Sciences/
+PT - Journal Article
+DEP - 20260418
+PL - England
+TA - BMC Neurol
+JT - BMC neurology
+JID - 100968555
+SB - IM
+PMC - PMC13220522
+OTO - NOTNLM
+OT - NIID
+OT - Oxford Nanopore
+OT - PacBio
+OT - biallelic GGC repeat expansions
+OT - demyelinating lesions
+OT - peripheral neuropathy
+COIS- Declarations. Ethics approval and consent to participate: Ethical approval for
+ patient data collection was obtained from the Ethics Committee of the First
+ Affiliated Hospital of Zhengzhou University (approval number: 2022-KY-0386-002).
+ All participants or their legal guardians provided written informed consent, in
+ accordance with the ethical standards of the Declaration of Helsinki and its
+ subsequent amendments. Consent for publication: The authors affirm that all human
+ participants provided informed consent for the publication of any identifying
+ images or clinical data. For participants with cognitive impairment, written
+ informed consent for such publication was additionally obtained from their legal
+ guardians. Competing interests: The authors declare no competing interests.
+EDAT- 2026/04/19 13:11
+MHDA- 2026/04/19 13:11
+PMCR- 2026/04/18
+CRDT- 2026/04/18 23:23
+PHST- 2025/10/16 00:00 [received]
+PHST- 2026/04/09 00:00 [accepted]
+PHST- 2026/04/19 13:11 [pubmed]
+PHST- 2026/04/19 13:11 [medline]
+PHST- 2026/04/18 23:23 [entrez]
+PHST- 2026/04/18 00:00 [pmc-release]
+AID - 10.1186/s12883-026-04898-2 [pii]
+AID - 4898 [pii]
+AID - 10.1186/s12883-026-04898-2 [doi]
+PST - epublish
+SO - BMC Neurol. 2026 Apr 18;26(1):354. doi: 10.1186/s12883-026-04898-2.
+
PMID- 41964975
OWN - NLM
STAT- MEDLINE
@@ -1283,7 +1544,7 @@ PMID- 41792844
OWN - NLM
STAT- MEDLINE
DCOM- 20260415
-LR - 20260423
+LR - 20260511
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
VI - 14
@@ -1346,6 +1607,10 @@ AD - Department of Neurology, Washington University School of Medicine, Saint L
MO, USA. weihlc@wustl.edu.
LA - eng
GR - R01 NS086810/NS/NINDS NIH HHS/United States
+GR - R01 AG031867/AG/NIA NIH HHS/United States
+GR - K24 AR073317/AR/NIAMS NIH HHS/United States
+GR - P50 HD104463/HD/NICHD NIH HHS/United States
+GR - R21 NS129096/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20260306
PL - England
@@ -2167,9 +2432,8 @@ SO - J Neurochem. 2026 Jan;170(1):e70352. doi: 10.1111/jnc.70352.
PMID- 41539185
OWN - NLM
-STAT- MEDLINE
-DCOM- 20260213
-LR - 20260213
+STAT- In-Process
+LR - 20260601
IS - 2352-3964 (Electronic)
IS - 2352-3964 (Linking)
VI - 124
@@ -2461,9 +2725,8 @@ SO - EBioMedicine. 2026 Feb;124:106127. doi: 10.1016/j.ebiom.2026.106127. Epub
PMID- 41526374
OWN - NLM
-STAT- MEDLINE
-DCOM- 20260216
-LR - 20260219
+STAT- In-Process
+LR - 20260601
IS - 2041-1723 (Electronic)
IS - 2041-1723 (Linking)
VI - 17
@@ -3548,15 +3811,20 @@ SO - Ann Clin Transl Neurol. 2025 Nov;12(11):2181-2192. doi: 10.1002/acn3.70147
PMID- 40645757
OWN - NLM
-STAT- Publisher
-LR - 20250711
+STAT- MEDLINE
+DCOM- 20260514
+LR - 20260530
IS - 1468-330X (Electronic)
+IS - 0022-3050 (Print)
IS - 0022-3050 (Linking)
-DP - 2025 Jul 11
+VI - 97
+IP - 6
+DP - 2026 May 14
TI - CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000
Genomes Project.
-LID - jnnp-2025-336590 [pii]
+PG - 479-482
LID - 10.1136/jnnp-2025-336590 [doi]
+LID - e336590
AB - BACKGROUND: CGG expansions in NOTCH2NLC and LRP12 were recently identified as a
cause of Charcot-Marie-Tooth disease (CMT) in 1.2%-10.6% of genetically
undiagnosed patients in China, Taiwan and Japan. However, their relevance in CMT
@@ -3578,7 +3846,7 @@ AB - BACKGROUND: CGG expansions in NOTCH2NLC and LRP12 were recently identified
non-pathogenic intermediate alleles of NOTCH2NLC and LRP12 in East Asians could
explain their ancestry-specific propensity to further expand into the full
pathogenic range.
-CI - (c) Author(s) (or their employer(s)) 2025. Re-use permitted under CC BY. Published
+CI - (c) Author(s) (or their employer(s)) 2026. Re-use permitted under CC BY. Published
by BMJ Group.
FAU - Bertini, Alessandro
AU - Bertini A
@@ -3641,29 +3909,47 @@ AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurol
London, UK andrea.cortese@ucl.ac.uk.
LA - eng
PT - Journal Article
-DEP - 20250711
+DEP - 20260514
PL - England
TA - J Neurol Neurosurg Psychiatry
JT - Journal of neurology, neurosurgery, and psychiatry
JID - 2985191R
+RN - 0 (NOTCH2NLC protein, human)
+RN - 0 (LDL-Receptor Related Proteins)
+RN - 0 (Nerve Tissue Proteins)
+RN - 0 (Intercellular Signaling Peptides and Proteins)
SB - IM
+MH - Humans
+MH - *Charcot-Marie-Tooth Disease/genetics
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Male
+MH - Female
+MH - Whole Genome Sequencing
+MH - LDL-Receptor Related Proteins/genetics
+MH - Adult
+MH - Asian People/genetics
+MH - Nerve Tissue Proteins
+MH - Intercellular Signaling Peptides and Proteins
+PMC - PMC13217079
OTO - NOTNLM
OT - NEUROGENETICS
OT - NEUROMUSCULAR
OT - NEUROPATHY
COIS- Competing interests: None declared.
EDAT- 2025/07/12 16:44
-MHDA- 2025/07/12 16:44
+MHDA- 2026/05/15 00:31
+PMCR- 2026/05/28
CRDT- 2025/07/11 21:13
PHST- 2025/04/24 00:00 [received]
PHST- 2025/06/11 00:00 [accepted]
-PHST- 2025/07/12 16:44 [medline]
+PHST- 2026/05/15 00:31 [medline]
PHST- 2025/07/12 16:44 [pubmed]
PHST- 2025/07/11 21:13 [entrez]
+PHST- 2026/05/28 00:00 [pmc-release]
AID - jnnp-2025-336590 [pii]
AID - 10.1136/jnnp-2025-336590 [doi]
-PST - aheadofprint
-SO - J Neurol Neurosurg Psychiatry. 2025 Jul 11:jnnp-2025-336590. doi:
+PST - epublish
+SO - J Neurol Neurosurg Psychiatry. 2026 May 14;97(6):479-482. doi:
10.1136/jnnp-2025-336590.
PMID- 40635536
@@ -6989,7 +7275,7 @@ PMID- 37975799
OWN - NLM
STAT- MEDLINE
DCOM- 20240115
-LR - 20260127
+LR - 20260601
IS - 1468-1331 (Electronic)
IS - 1351-5101 (Print)
IS - 1351-5101 (Linking)
@@ -7172,6 +7458,7 @@ AD - National Clinical Research Center for Geriatric Disorders, Xiangya Hospita
Central South University, Changsha, China.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20231117
PL - England
TA - Eur J Neurol
@@ -11240,7 +11527,7 @@ PMID- 36417528
OWN - NLM
STAT- MEDLINE
DCOM- 20221130
-LR - 20260127
+LR - 20260526
IS - 2375-2548 (Electronic)
IS - 2375-2548 (Linking)
VI - 8
@@ -11420,6 +11707,8 @@ AD - Key Laboratory of Hunan Province in Neurodegenerative Disorders, Xiangya
Hospital, Central South University, Changsha, Hunan 410008, China.
LA - eng
GR - P50 HD104458/HD/NICHD NIH HHS/United States
+GR - P50 HD104463/HD/NICHD NIH HHS/United States
+GR - R01 NS051630/NS/NINDS NIH HHS/United States
GR - R35 NS111602/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20221123
diff --git a/data/literature/NUTM2B-AS1_batch_01.txt b/data/literature/NUTM2B-AS1_batch_01.txt
index 5f3be4b1..63076113 100644
--- a/data/literature/NUTM2B-AS1_batch_01.txt
+++ b/data/literature/NUTM2B-AS1_batch_01.txt
@@ -1,15 +1,20 @@
PMID- 40645757
OWN - NLM
-STAT- Publisher
-LR - 20250711
+STAT- MEDLINE
+DCOM- 20260514
+LR - 20260530
IS - 1468-330X (Electronic)
+IS - 0022-3050 (Print)
IS - 0022-3050 (Linking)
-DP - 2025 Jul 11
+VI - 97
+IP - 6
+DP - 2026 May 14
TI - CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000
Genomes Project.
-LID - jnnp-2025-336590 [pii]
+PG - 479-482
LID - 10.1136/jnnp-2025-336590 [doi]
+LID - e336590
AB - BACKGROUND: CGG expansions in NOTCH2NLC and LRP12 were recently identified as a
cause of Charcot-Marie-Tooth disease (CMT) in 1.2%-10.6% of genetically
undiagnosed patients in China, Taiwan and Japan. However, their relevance in CMT
@@ -31,7 +36,7 @@ AB - BACKGROUND: CGG expansions in NOTCH2NLC and LRP12 were recently identified
non-pathogenic intermediate alleles of NOTCH2NLC and LRP12 in East Asians could
explain their ancestry-specific propensity to further expand into the full
pathogenic range.
-CI - (c) Author(s) (or their employer(s)) 2025. Re-use permitted under CC BY. Published
+CI - (c) Author(s) (or their employer(s)) 2026. Re-use permitted under CC BY. Published
by BMJ Group.
FAU - Bertini, Alessandro
AU - Bertini A
@@ -94,29 +99,47 @@ AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurol
London, UK andrea.cortese@ucl.ac.uk.
LA - eng
PT - Journal Article
-DEP - 20250711
+DEP - 20260514
PL - England
TA - J Neurol Neurosurg Psychiatry
JT - Journal of neurology, neurosurgery, and psychiatry
JID - 2985191R
+RN - 0 (NOTCH2NLC protein, human)
+RN - 0 (LDL-Receptor Related Proteins)
+RN - 0 (Nerve Tissue Proteins)
+RN - 0 (Intercellular Signaling Peptides and Proteins)
SB - IM
+MH - Humans
+MH - *Charcot-Marie-Tooth Disease/genetics
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Male
+MH - Female
+MH - Whole Genome Sequencing
+MH - LDL-Receptor Related Proteins/genetics
+MH - Adult
+MH - Asian People/genetics
+MH - Nerve Tissue Proteins
+MH - Intercellular Signaling Peptides and Proteins
+PMC - PMC13217079
OTO - NOTNLM
OT - NEUROGENETICS
OT - NEUROMUSCULAR
OT - NEUROPATHY
COIS- Competing interests: None declared.
EDAT- 2025/07/12 16:44
-MHDA- 2025/07/12 16:44
+MHDA- 2026/05/15 00:31
+PMCR- 2026/05/28
CRDT- 2025/07/11 21:13
PHST- 2025/04/24 00:00 [received]
PHST- 2025/06/11 00:00 [accepted]
-PHST- 2025/07/12 16:44 [medline]
+PHST- 2026/05/15 00:31 [medline]
PHST- 2025/07/12 16:44 [pubmed]
PHST- 2025/07/11 21:13 [entrez]
+PHST- 2026/05/28 00:00 [pmc-release]
AID - jnnp-2025-336590 [pii]
AID - 10.1136/jnnp-2025-336590 [doi]
-PST - aheadofprint
-SO - J Neurol Neurosurg Psychiatry. 2025 Jul 11:jnnp-2025-336590. doi:
+PST - epublish
+SO - J Neurol Neurosurg Psychiatry. 2026 May 14;97(6):479-482. doi:
10.1136/jnnp-2025-336590.
PMID- 39308795
diff --git a/data/literature/PABPN1_batch_01.txt b/data/literature/PABPN1_batch_01.txt
index 3efccf8a..3b8983cb 100644
--- a/data/literature/PABPN1_batch_01.txt
+++ b/data/literature/PABPN1_batch_01.txt
@@ -1,4 +1,314 @@
+PMID- 42196324
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260527
+LR - 20260529
+IS - 1422-0067 (Electronic)
+IS - 1422-0067 (Linking)
+VI - 27
+IP - 10
+DP - 2026 May 13
+TI - Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant
+ Expansions in a Large Turkish Neurodegeneration Disease Cohort.
+LID - 10.3390/ijms27104345 [doi]
+LID - 4345
+AB - Short tandem repeat (STR) expansions are a major cause of neurodegenerative
+ disorders; however, their genetic and clinical heterogeneity complicates
+ diagnosis. STR detection remains limited in routine short-read next-generation
+ sequencing (NGS) workflows. We evaluated the diagnostic yield and clinical
+ utility of computational STR genotyping in a large Turkish neurodegenerative
+ disease cohort. ExpansionHunter was applied to NGS data from 3150 patients and
+ 146 controls, targeting 15 disease-associated STR loci. To improve genotyping of
+ poorly captured exonic regions in exome data, the default locus coverage
+ threshold was reduced from 10x to 3x. Candidate expansions were visually
+ inspected using REViewer and validated by conventional molecular methods.
+ Computational analysis detected 28 pathogenic and 160 intermediate expansions. Of
+ these, 23 were confirmed as pathogenic, and eight initially classified as
+ intermediate were reclassified as pathogenic after conventional validation,
+ resulting in 31 pathogenic cases across 28 families: HTT (n = 8), ATXN2 (n = 5),
+ ATXN1 (n = 4), DMPK (n = 3), PABPN1 (n = 3), TBP (n = 2), and single cases in AR,
+ ATN1, and CACNA1A. Lowering the coverage threshold markedly increased genotyping
+ rates at low-coverage loci in exome data, particularly in ATXN2. Genetic findings
+ were largely consistent with clinical pre-diagnosis and the additional diagnostic
+ yield was 0.95%. These findings support integrating STR analysis into routine
+ neurogenetic diagnostics.
+FAU - Khojakulov, Zakhiriddin
+AU - Khojakulov Z
+AUID- ORCID: 0000-0002-7771-8956
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Palvadeau, Robin J
+AU - Palvadeau RJ
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Kovancilar-Koc, Muge
+AU - Kovancilar-Koc M
+AUID- ORCID: 0009-0006-7125-1159
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Atay, Irmak
+AU - Atay I
+AUID- ORCID: 0009-0007-3284-7790
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Sahbaz, Irmak
+AU - Sahbaz I
+AUID- ORCID: 0000-0001-8816-9158
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Tekgul, Seyma
+AU - Tekgul S
+AUID- ORCID: 0000-0001-5223-5627
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Sahin, Ayca
+AU - Sahin A
+AUID- ORCID: 0000-0002-0948-6495
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Badakal, Esmer Zeynep Duru
+AU - Badakal EZD
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Gul-Demirkale, Tugce
+AU - Gul-Demirkale T
+AUID- ORCID: 0000-0002-1818-9839
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Ciftci, Vildan
+AU - Ciftci V
+AUID- ORCID: 0000-0002-4441-6062
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Bayraktar, Elif
+AU - Bayraktar E
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Tunca, Ceren
+AU - Tunca C
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Smolina, Natalia
+AU - Smolina N
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Akcimen, Fulya
+AU - Akcimen F
+AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
+ Health, Bethesda, MD 20892, USA.
+FAU - Basak, Ayse Nazli
+AU - Basak AN
+AUID- ORCID: 0000-0001-6977-2517
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+LA - eng
+GR - Suna and Inan Kirac Foundation/Suna and Inan Kirac Foundation/
+GR - Koc university/Koc University/
+PT - Journal Article
+DEP - 20260513
+PL - Switzerland
+TA - Int J Mol Sci
+JT - International journal of molecular sciences
+JID - 101092791
+SB - IM
+MH - Humans
+MH - *Microsatellite Repeats/genetics
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Turkey/epidemiology
+MH - High-Throughput Nucleotide Sequencing
+MH - Genotype
+MH - Female
+MH - *Genotyping Techniques/methods
+MH - Male
+MH - Cohort Studies
+MH - *DNA Repeat Expansion
+MH - Computational Biology/methods
+PMC - PMC13207311
+OTO - NOTNLM
+OT - ExpansionHunter
+OT - NGS
+OT - STR
+OT - computational genotyping
+OT - neurodegenerative diseases
+OT - short tandem repeats
+COIS- The authors declare no conflicts of interest. The contributions of the NIH
+ author(s) are considered Works of the United States Government. The findings and
+ conclusions presented in this paper are those of the author(s) and do not
+ necessarily reflect the views of the NIH or the U.S. Department of Health and
+ Human Services.
+EDAT- 2026/05/27 06:33
+MHDA- 2026/05/27 06:34
+PMCR- 2026/05/13
+CRDT- 2026/05/27 01:16
+PHST- 2026/03/05 00:00 [received]
+PHST- 2026/04/04 00:00 [revised]
+PHST- 2026/04/09 00:00 [accepted]
+PHST- 2026/05/27 06:34 [medline]
+PHST- 2026/05/27 06:33 [pubmed]
+PHST- 2026/05/27 01:16 [entrez]
+PHST- 2026/05/13 00:00 [pmc-release]
+AID - ijms27104345 [pii]
+AID - ijms-27-04345 [pii]
+AID - 10.3390/ijms27104345 [doi]
+PST - epublish
+SO - Int J Mol Sci. 2026 May 13;27(10):4345. doi: 10.3390/ijms27104345.
+
+PMID- 42157275
+OWN - NLM
+STAT- In-Process
+LR - 20260522
+IS - 1750-1172 (Electronic)
+IS - 1750-1172 (Linking)
+VI - 21
+IP - 1
+DP - 2026 May 19
+TI - The genetic and clinical characteristics of oculopharyngeal muscular dystrophy
+ patients in Israel.
+LID - 10.1186/s13023-026-04313-6 [doi]
+LID - 203
+AB - BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal
+ dominant myopathy, caused by a (GCN)n/polyalanine repeat expansion in the PABPN1
+ gene. In Israel, OPMD is particularly prevalent among individuals of Jewish
+ Bukharian descent due to a (GCN)13 repeat expansion. In this retrospective study,
+ we collected genetic and clinical data of OPMD patients who visited the Israeli
+ reference clinic from its opening in 2022 through September 2025 and were
+ enrolled in the Israeli OPMD registry (IsrO-PMD). RESULTS: A total of 102 Jewish
+ individuals with OPMD symptoms and a confirmed molecular diagnosis were
+ identified (52 males, 51.0%). The heterozygous (GCN)13 repeat allele (10/13
+ genotype) was found in 95 patients (93.1%), of whom 89 (93.7%) were of Bukharian
+ descent, five (5.6%) were of Bulgarian origin, and a single patient was from
+ Georgia. In this 10/13 genotype group (n = 95), initial symptoms were dysphagia
+ and ptosis, which occurred at a similar mean age of 53.0 +/- 8.3 and 53.9 +/- 7.2
+ years, respectively. Symptoms of limb muscle weakness occurred significantly
+ later, at a mean age of 57.9 +/- 10.2 years. Overall, the onset of symptoms
+ occurred approximately 4 years earlier in females (48.9 +/- 7.9, n = 48) than in
+ males (52.6 +/- 7.1, n = 47), and this difference was statistically significant
+ (p = 0.02). However, the difference did not reach significance when calculated
+ for each of the three symptoms separately. On evaluation, at a mean age of
+ 61.6 +/- 10.7 years, dysphagia was present in 92/95 (96.8%) of patients, ptosis in
+ 85/95 (89.5%), and limb muscle weakness in 56/95 (58.9%) of cases, most notably
+ of hip flexion and abduction. Different genotypes were detected in seven
+ patients: Three of Bukharian descent were homozygous for (GCN)13 repeats, three
+ of Karaite descent were homozygous for (GCN)11 repeats, and one of Tunisian
+ origion was heterozygous for (GCN)15 repeats (10/15 genotype). DISCUSSION: While
+ most OPMD patients in Israel are of Jewish Bukharian descent, patients from other
+ origins were also identified. Dysphagia and ptosis are the common initial
+ symptoms, and overall, the onset of symptoms was reportedly earlier in females.
+ Proximal muscle weakness becomes common with disease progression. Further studies
+ are required to delineate genotype-phenotype correlations.
+FAU - Ben-David, Merav
+AU - Ben-David M
+AD - Department of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
+AD - Multidisciplinary Service for OPMD Patients, Sheba Medical Center, Tel Hashomer,
+ Ramat-Gan, Israel.
+FAU - Greenbaum, Lior
+AU - Greenbaum L
+AD - The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel
+ Hashomer, Ramat-Gan, Israel.
+AD - Gray Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.
+AD - Multidisciplinary Service for OPMD Patients, Sheba Medical Center, Tel Hashomer,
+ Ramat-Gan, Israel.
+FAU - Nikitn, Vera
+AU - Nikitn V
+AD - Department of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
+AD - Multidisciplinary Service for OPMD Patients, Sheba Medical Center, Tel Hashomer,
+ Ramat-Gan, Israel.
+FAU - Zvulunov, Alex
+AU - Zvulunov A
+AD - Department of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
+AD - Multidisciplinary Service for OPMD Patients, Sheba Medical Center, Tel Hashomer,
+ Ramat-Gan, Israel.
+AD - Recanati School of Medicine, Reichman University, Herzliya, Israel.
+AD - The Non-Profit Organization for Promotion of Health and Cure of OPMD, Bnei Dror,
+ Israel.
+FAU - Charas, Hagit
+AU - Charas H
+AD - Department of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
+AD - Multidisciplinary Service for OPMD Patients, Sheba Medical Center, Tel Hashomer,
+ Ramat-Gan, Israel.
+FAU - Divon, Naama
+AU - Divon N
+AD - Department of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
+AD - Multidisciplinary Service for OPMD Patients, Sheba Medical Center, Tel Hashomer,
+ Ramat-Gan, Israel.
+FAU - Barkan, Tali
+AU - Barkan T
+AD - The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel
+ Aviv, Israel.
+FAU - Chorin, Odelia
+AU - Chorin O
+AD - The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel
+ Hashomer, Ramat-Gan, Israel.
+AD - Gray Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.
+FAU - Reznik-Wolf, Haike
+AU - Reznik-Wolf H
+AD - The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel
+ Hashomer, Ramat-Gan, Israel.
+FAU - Zloto, Ofira
+AU - Zloto O
+AD - Multidisciplinary Service for OPMD Patients, Sheba Medical Center, Tel Hashomer,
+ Ramat-Gan, Israel.
+AD - Department of Ophthalmology, Sheba Medical Center, Tel Hashomer, Ramat Gan,
+ Israel.
+FAU - Benyamini, Limor
+AU - Benyamini L
+AD - Multidisciplinary Service for OPMD Patients, Sheba Medical Center, Tel Hashomer,
+ Ramat-Gan, Israel.
+AD - Department of Otolaryngology, Head and Neck Surgery, Sheba Medical Center, Tel
+ Hashomer, Ramat Gan, Israel.
+FAU - Shelly, Shahar
+AU - Shelly S
+AD - Department of Neurology, Rambam Medical Center, Haifa, Israel.
+AD - Rappaport Faculty of Medicine, Technion, Haifa, Israel.
+AD - Department of Neurology, Mayo Clinic, Rochester, MN, USA.
+FAU - Dori, Amir
+AU - Dori A
+AUID- ORCID: 0000-0003-4633-1481
+AD - Department of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
+ amirdori@tauex.tau.ac.il.
+AD - Gray Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.
+ amirdori@tauex.tau.ac.il.
+AD - Multidisciplinary Service for OPMD Patients, Sheba Medical Center, Tel Hashomer,
+ Ramat-Gan, Israel. amirdori@tauex.tau.ac.il.
+LA - eng
+PT - Journal Article
+DEP - 20260519
+PL - England
+TA - Orphanet J Rare Dis
+JT - Orphanet journal of rare diseases
+JID - 101266602
+SB - IM
+PMC - PMC13188457
+OTO - NOTNLM
+OT - PABPN1
+OT - Myopathy
+OT - Oculopharyngeal muscular dystrophy
+OT - Trinucleotide repeat expansion
+COIS- Declarations. Ethics approval and consent to participate: The SMC Institutional
+ Review Board approved the study in accordance with the Declaration of Helsinki
+ (8801-21-SMC). All participants provided written informed consent. The study was
+ registered at ClinicalTrials.gov: ID NCT07146256; Study Start 2022-02-01. Consent
+ for publication: The manuscript contains no individual data. Therefore, in
+ addition to informed consent for participation in the study, no further consent
+ was required. Competing interests: The authors declare that they have no
+ competing interests.
+EDAT- 2026/05/20 06:32
+MHDA- 2026/05/20 06:32
+PMCR- 2026/05/19
+CRDT- 2026/05/20 00:16
+PHST- 2025/12/18 00:00 [received]
+PHST- 2026/03/06 00:00 [accepted]
+PHST- 2026/05/20 06:32 [medline]
+PHST- 2026/05/20 06:32 [pubmed]
+PHST- 2026/05/20 00:16 [entrez]
+PHST- 2026/05/19 00:00 [pmc-release]
+AID - 10.1186/s13023-026-04313-6 [pii]
+AID - 4313 [pii]
+AID - 10.1186/s13023-026-04313-6 [doi]
+PST - epublish
+SO - Orphanet J Rare Dis. 2026 May 19;21(1):203. doi: 10.1186/s13023-026-04313-6.
+
PMID- 41764774
OWN - NLM
STAT- MEDLINE
diff --git a/data/literature/PPP2R2B_batch_01.txt b/data/literature/PPP2R2B_batch_01.txt
index 67ebbfb3..f6f22c37 100644
--- a/data/literature/PPP2R2B_batch_01.txt
+++ b/data/literature/PPP2R2B_batch_01.txt
@@ -1,4 +1,142 @@
+PMID- 42105155
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260509
+LR - 20260509
+IS - 1473-4230 (Electronic)
+IS - 1473-4222 (Linking)
+VI - 25
+IP - 3
+DP - 2026 May 9
+TI - Abnormal Amyloidogenesis Identified in Plasma of Patients with Spinocerebellar
+ Ataxia Type 12.
+LID - 75 [pii]
+LID - 10.1007/s12311-026-02015-0 [doi]
+AB - Spinocerebellar ataxia type 12 (SCA12), a progressive neurological disorder, is
+ the second-most common autosomal dominant ataxia in India. The disease is
+ clinically heterogeneous with a variable age-of-onset. A CAG repeat expansion
+ mutation upstream of PPP2R2B gene is causal to SCA12 motor and non-motor symptoms
+ but its pathophysiological significance remains unknown. PPP2R2B encodes for the
+ regulatory subunit B of the protein phosphatase 2 A (PP2A), a major regulator of
+ amyloid beta (Abeta) and tau proteins. We aimed to determine whether PPP2R2B
+ mutation leads to Abeta and tau dysregulation in SCA12. Plasma Abeta42/Abeta40 ratio, a
+ core biomarker for Abeta toxicity and cognitive impairment was further investigated.
+ This cross-sectional study included 27 genetically confirmed SCA12 patients and
+ 24 healthy controls. The patients were subjected to ICARS and MoCA clinical
+ scales for disease severity and cognition respectively. Plasma levels for Abeta42,
+ Abeta40, total tau (t-tau) and phosphorylated tau (p-tau) levels were estimated
+ spectrophotometrically using validated ELISA kits. A significant decrease in the
+ plasma Abeta40 level (p = 0.014) and an increase in the Abeta42/Abeta40 ratio (p = 0.007)
+ was observed in SCA12. Total tau and p-tau levels were unchanged. No significant
+ correlation of the plasma Abeta and tau proteins with clinical parameters was
+ obtained. In SCA12, we identified an altered plasma Abeta profile indicative of
+ abnormal peripheral amyloidogenesis. Plasma Abeta and tau concentrations were not
+ correlated with the patients' cognitive status. The dynamic ratiometric Abeta42/Abeta40
+ shift in plasma is a forerunner of Abeta neurotoxicity and opens novel avenues for
+ Abeta-targeted therapy in SCA12.
+CI - (c) 2026. The Author(s), under exclusive licence to Springer Science+Business
+ Media, LLC, part of Springer Nature.
+FAU - Banerjee, Rebecca
+AU - Banerjee R
+AD - Department of Neurology, Institute of Neurosciences Kolkata (I-NK), 185/1 AJC
+ Bose Road, Kolkata, 700017, West Bengal, India.
+FAU - Sengupta, Swarnava
+AU - Sengupta S
+AD - Department of Neurology, Institute of Neurosciences Kolkata (I-NK), 185/1 AJC
+ Bose Road, Kolkata, 700017, West Bengal, India.
+FAU - Rungta, Jyoti
+AU - Rungta J
+AD - Department of Neurology, Institute of Neurosciences Kolkata (I-NK), 185/1 AJC
+ Bose Road, Kolkata, 700017, West Bengal, India.
+FAU - Ansari, Sabbir
+AU - Ansari S
+AD - Department of Neurology, Institute of Neurosciences Kolkata (I-NK), 185/1 AJC
+ Bose Road, Kolkata, 700017, West Bengal, India.
+FAU - Banerjee, Sattwika
+AU - Banerjee S
+AD - Department of Neurology, Institute of Neurosciences Kolkata (I-NK), 185/1 AJC
+ Bose Road, Kolkata, 700017, West Bengal, India.
+FAU - Biswas, Bishmita
+AU - Biswas B
+AD - Department of Neurology, Institute of Neurosciences Kolkata (I-NK), 185/1 AJC
+ Bose Road, Kolkata, 700017, West Bengal, India.
+FAU - Pal, Rakhi
+AU - Pal R
+AD - Center for High Impact Neuroscience and Translational Applications (CHINTA),
+ TCG-CREST, Kolkata, 700091, West Bengal, India.
+AD - Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India.
+FAU - Chattarji, Sumantra
+AU - Chattarji S
+AD - Center for High Impact Neuroscience and Translational Applications (CHINTA),
+ TCG-CREST, Kolkata, 700091, West Bengal, India.
+FAU - Choudhury, Supriyo
+AU - Choudhury S
+AD - Department of Neurology, Institute of Neurosciences Kolkata (I-NK), 185/1 AJC
+ Bose Road, Kolkata, 700017, West Bengal, India.
+FAU - Kumar, Hrishikesh
+AU - Kumar H
+AD - Department of Neurology, Institute of Neurosciences Kolkata (I-NK), 185/1 AJC
+ Bose Road, Kolkata, 700017, West Bengal, India. rishi_medicine@yahoo.com.
+LA - eng
+GR - IF190863/DST/INSPIRE Fellowship/
+GR - 984(Sanc)/STBT-11012(19)/14/2024-ST SEC/West Bengal Department of Science &
+ Technology and Biotechnology/
+PT - Journal Article
+DEP - 20260509
+PL - United States
+TA - Cerebellum
+JT - Cerebellum (London, England)
+JID - 101089443
+RN - 0 (Amyloid beta-Peptides)
+RN - 0 (tau Proteins)
+RN - 0 (Peptide Fragments)
+RN - EC 3.1.3.16 (Protein Phosphatase 2)
+RN - EC 3.1.3.16 (PPP2R2B protein, human)
+RN - 0 (amyloid beta-protein (1-42))
+RN - 0 (Biomarkers)
+RN - 0 (Nerve Tissue Proteins)
+SB - IM
+MH - Humans
+MH - Male
+MH - Female
+MH - *Amyloid beta-Peptides/blood
+MH - Cross-Sectional Studies
+MH - Middle Aged
+MH - Adult
+MH - *Spinocerebellar Ataxias/blood/genetics
+MH - *tau Proteins/blood
+MH - *Peptide Fragments/blood
+MH - *Protein Phosphatase 2/genetics
+MH - Mutation
+MH - Biomarkers/blood
+MH - Nerve Tissue Proteins
+OTO - NOTNLM
+OT - PPP2R2B
+OT - Amyloidogenesis
+OT - Ass 40
+OT - Ass 42
+OT - SCA12
+OT - Tau
+COIS- Declarations. Human Ethics and Consent to Participate Declaration: This study was
+ approved by the Institutional Ethics Committee (IEC) at I-NK (Protocol no:
+ I-NK/SCA-12/MOL/CELL/Ver.01). Written informed consent was obtained from each
+ participant in accordance to the Declaration of Helsinki. Participants signed
+ informed consent regarding publishing their data. Competing Interests: The
+ authors declare no competing interests.
+EDAT- 2026/05/10 05:16
+MHDA- 2026/05/10 05:17
+CRDT- 2026/05/09 11:15
+PHST- 2025/12/18 00:00 [received]
+PHST- 2026/04/28 00:00 [accepted]
+PHST- 2026/05/10 05:17 [medline]
+PHST- 2026/05/10 05:16 [pubmed]
+PHST- 2026/05/09 11:15 [entrez]
+AID - 10.1007/s12311-026-02015-0 [pii]
+AID - 10.1007/s12311-026-02015-0 [doi]
+PST - epublish
+SO - Cerebellum. 2026 May 9;25(3):75. doi: 10.1007/s12311-026-02015-0.
+
PMID- 42038259
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -3858,7 +3996,7 @@ PMID- 18940801
OWN - NLM
STAT- MEDLINE
DCOM- 20090313
-LR - 20210206
+LR - 20260512
IS - 0021-9258 (Print)
IS - 1083-351X (Electronic)
IS - 0021-9258 (Linking)
@@ -3903,9 +4041,7 @@ AU - Usachev YM
FAU - Strack, Stefan
AU - Strack S
LA - eng
-GR - R01 NS046450/NS/NINDS NIH HHS/United States
GR - NS054614/NS/NINDS NIH HHS/United States
-GR - R01 NS035563/NS/NINDS NIH HHS/United States
GR - NS056244/NS/NINDS NIH HHS/United States
GR - NS046450/NS/NINDS NIH HHS/United States
GR - F31 NS049659/NS/NINDS NIH HHS/United States
diff --git a/data/literature/RFC1_batch_01.txt b/data/literature/RFC1_batch_01.txt
index fbb629fb..77377dd6 100644
--- a/data/literature/RFC1_batch_01.txt
+++ b/data/literature/RFC1_batch_01.txt
@@ -1,4 +1,496 @@
+PMID- 42178418
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260524
+LR - 20260527
+IS - 1432-1459 (Electronic)
+IS - 0340-5354 (Print)
+IS - 0340-5354 (Linking)
+VI - 273
+IP - 6
+DP - 2026 May 25
+TI - Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy
+ syndromes: insights from repeat expansion carriers, including a case of
+ co-occurrence with RFC1-related CANVAS.
+LID - 10.1007/s00415-026-13867-1 [doi]
+LID - 339
+AB - OBJECTIVES: Intronic FGF14 GAA repeat expansions cause spinocerebellar ataxia 27B
+ (SCA27B) / GAA-FGF14 disease. Bilateral vestibulopathy (BVP) has been reported as
+ a recurrent feature of this disease. Here, we aimed to determine whether
+ GAA-FGF14 expansions represent a common cause of primary BVP syndromes. METHODS:
+ FGF14 genotyping, and in-depth neurological, vestibular and disease evolution
+ phenotyping of 116 consecutive patients meeting the diagnostic criteria for BVP,
+ including 92 with idiopathic BVP, 10 with biallelic RFC1 expansions, and 14 with
+ a secondary cause. RESULTS: Two patients in the idiopathic BVP group (2/92, 2.2%;
+ 430 and 349 GAA repeats) and one in the RFC1-positive BVP group (1/10, 10%; 255
+ GAA repeats) carried an FGF14 (GAA)(>/=250) expansion. No expansions were detected
+ in the secondary BVP group. In the idiopathic BVP group, the GAA-FGF14-positive
+ patients had mild-to-moderate BVP and a phenotype that aligned with SCA27B. The
+ patient carrying both FGF14 and biallelic RFC1 expansions developed cerebellar
+ dysfunction, downbeat nystagmus, sensory neuropathy, and BVP at age 70. Downbeat
+ nystagmus was observed in all GAA-FGF14 expansion carriers (3/3, 100%) compared
+ to only a minority of patients with idiopathic BVP (7/90, 8%; Fisher's exact
+ test, p = 0.0009). DISCUSSION: The phenotypic spectrum of GAA-FGF14 disease can
+ include a relevant bilateral vestibular deficit (BVP); however, FGF14 GAA
+ expansions are overall a rare cause of primary BVP syndromes. Given the possible
+ co-occurrence of GAA-FGF14 and RFC1 expansions, dual diagnosis should be
+ considered in patients presenting with unusual or broader phenotypes.
+CI - (c) 2026. The Author(s).
+FAU - Pellerin, David
+AU - Pellerin D
+AUID- ORCID: 0000-0002-5807-995X
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Hospital and
+ Institute, McGill University, Montreal, QC, Canada. dxp2561@miami.edu.
+AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and
+ The National Hospital for Neurology and Neurosurgery, University College London,
+ London, UK. dxp2561@miami.edu.
+AD - Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman
+ Institute for Human Genomics, University of Miami Miller School of Medicine,
+ Miami, FL, USA. dxp2561@miami.edu.
+FAU - Heindl, Felix
+AU - Heindl F
+AD - Department of Neurology and German Center for Vertigo and Balance Disorders, LMU
+ University Hospital, LMU Munich, Germany.
+FAU - Traschutz, Andreas
+AU - Traschutz A
+AD - Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute
+ for Clinical Brain Research and Center of Neurology, University of Tubingen,
+ Tubingen, Germany.
+AD - German Center for Neurodegenerative Diseases (DZNE), Tubingen, Germany.
+AD - Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain
+ Research and Center of Neurology, University of Tubingen, Tubingen, Germany.
+FAU - Iruzubieta, Pablo
+AU - Iruzubieta P
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Hospital and
+ Institute, McGill University, Montreal, QC, Canada.
+AD - Department of Neurosciences, Biogipuzkoa Health Research Institute, Donostia-San
+ Sebastian, Spain.
+AD - CIBERNED Centro de Investigacion Biomedica en Red en Enfermedades
+ Neurodegenerativas, Instituto de Salud Carlos III (CIBER-CIBERNED-ISCIII), 28029,
+ Madrid, Spain.
+FAU - Dicaire, Marie-Josee
+AU - Dicaire MJ
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Hospital and
+ Institute, McGill University, Montreal, QC, Canada.
+FAU - Zuchner, Stephan
+AU - Zuchner S
+AD - Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman
+ Institute for Human Genomics, University of Miami Miller School of Medicine,
+ Miami, FL, USA.
+FAU - Hartmann, Annette M
+AU - Hartmann AM
+AD - Department of Psychiatry and Psychotherapy, Comprehensive Center for Clinical
+ Neurosciences and Mental Health (C3NMH), Medical University of Vienna, Vienna,
+ Austria.
+FAU - Rujescu, Dan
+AU - Rujescu D
+AD - Department of Psychiatry and Psychotherapy, Comprehensive Center for Clinical
+ Neurosciences and Mental Health (C3NMH), Medical University of Vienna, Vienna,
+ Austria.
+FAU - Houlden, Henry
+AU - Houlden H
+AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and
+ The National Hospital for Neurology and Neurosurgery, University College London,
+ London, UK.
+FAU - Brais, Bernard
+AU - Brais B
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Hospital and
+ Institute, McGill University, Montreal, QC, Canada.
+AD - Department of Human Genetics, McGill University, Montreal, QC, Canada.
+FAU - Strupp, Michael
+AU - Strupp M
+AD - Department of Neurology and German Center for Vertigo and Balance Disorders, LMU
+ University Hospital, LMU Munich, Germany.
+FAU - Synofzik, Matthis
+AU - Synofzik M
+AD - Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute
+ for Clinical Brain Research and Center of Neurology, University of Tubingen,
+ Tubingen, Germany. matthis.synofzik@uni-tuebingen.de.
+AD - German Center for Neurodegenerative Diseases (DZNE), Tubingen, Germany.
+ matthis.synofzik@uni-tuebingen.de.
+LA - eng
+GR - 101156595/HORIZON EUROPE Framework Programme/
+GR - 01EO 1401/Bundesministerium fur Forschung und Technologie/
+GR - 189963/CAPMC/CIHR/Canada
+PT - Journal Article
+DEP - 20260525
+PL - Germany
+TA - J Neurol
+JT - Journal of neurology
+JID - 0423161
+RN - 62031-54-3 (Fibroblast Growth Factors)
+RN - 0 (fibroblast growth factor 14)
+RN - EC 3.6.4.- (Replication Protein C)
+RN - 0 (RFC1 protein, human)
+SB - IM
+MH - Humans
+MH - *Bilateral Vestibulopathy/genetics/physiopathology/epidemiology
+MH - Male
+MH - Female
+MH - Middle Aged
+MH - Phenotype
+MH - *Fibroblast Growth Factors/genetics
+MH - *Replication Protein C/genetics
+MH - Adult
+MH - Aged
+MH - *DNA Repeat Expansion/genetics
+PMC - PMC13199202
+OTO - NOTNLM
+OT - FGF14
+OT - Bilateral vestibulopathy
+OT - CANVAS
+OT - Cerebellar ataxia
+OT - GAA-FGF14 ataxia
+OT - SCA27B
+COIS- Declarations. Conflicts of interest: DP reports no disclosures. FH reports no
+ disclosures. AT reports no disclosures. PI reports no disclosures. MJD reports no
+ disclosures. SZ reports no disclosures. AMH reports no disclosures. DR served as
+ consultant for Boehringer-Ingelheim and Janssen, received honoraria from
+ Boehringer-Ingelheim, Gerot Lannacher, Indorsia, Janssen and Pharmagenetix,
+ received research/travel support from Angelini, Boehringer-Ingelheim, Janssen and
+ Schwabe, and served on advisory boards of AC Immune, Boehringer-Ingelheim,
+ Indorsia, Roche and Rovi, all unrelated to the present manuscript. HH reports no
+ disclosures. BB reports no disclosures. MSt is Joint Chief Editor of the Journal
+ of Neurology, Editor in Chief of Frontiers of Neuro-otology and Section Editor of
+ F1000. He has received speakers' honoraria from Abbott, Auris Medical, Biogen,
+ Eisai, Grunenthal, GSK, Henning Pharma, Interacoustics, J&J, MSD, NeuroUpdate,
+ Otometrics, Pierre-Fabre, TEVA, UCB, and Viatris. He receives support for
+ clinical studies from Decibel, U.S.A., Cure within Reach, U.S.A. and Heel,
+ Germany. He distributes M-glasses and Positional vertigo App. He acts as a
+ consultant for Abbott, AurisMedical, Bulbitec, Heel, IntraBio, Sensorion and
+ Vertify. He is an investor and share-holder of IntraBio. All are unrelated to the
+ present manuscript. MSy has received consultancy honoraria from Janssen, Ionis,
+ Orphazyme, Insmed, Servier, Reata, Biohaven, Zevra, Lilly, GenOrph, and
+ AviadoBio, all unrelated to the present manuscript. Ethical approval: This study
+ was approved by the ethics committee of the LMU University Hospital, LMU Munich,
+ Germany (IRB# 379-11) and was performed in accordance with the ethical standards
+ laid down in the 1964 Declaration of Helsinki and its later amendments. Written
+ informed consent from all participants was obtained.
+EDAT- 2026/05/25 00:30
+MHDA- 2026/05/25 00:31
+PMCR- 2026/05/25
+CRDT- 2026/05/24 23:21
+PHST- 2026/01/21 00:00 [received]
+PHST- 2026/05/13 00:00 [accepted]
+PHST- 2026/04/20 00:00 [revised]
+PHST- 2026/05/25 00:31 [medline]
+PHST- 2026/05/25 00:30 [pubmed]
+PHST- 2026/05/24 23:21 [entrez]
+PHST- 2026/05/25 00:00 [pmc-release]
+AID - 10.1007/s00415-026-13867-1 [pii]
+AID - 13867 [pii]
+AID - 10.1007/s00415-026-13867-1 [doi]
+PST - epublish
+SO - J Neurol. 2026 May 25;273(6):339. doi: 10.1007/s00415-026-13867-1.
+
+PMID- 42096001
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260507
+LR - 20260510
+IS - 1473-4230 (Electronic)
+IS - 1473-4222 (Print)
+IS - 1473-4222 (Linking)
+VI - 25
+IP - 3
+DP - 2026 May 7
+TI - Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed
+ Cerebellar Ataxia - A Preliminary Study.
+LID - 10.1007/s12311-026-02003-4 [doi]
+LID - 73
+AB - Spinocerebellar ataxia type 27B (SCA27B), caused by an intronic GAA repeat
+ expansion in the FGF14 gene, has recently emerged as a major cause of late-onset
+ cerebellar ataxia (LOCA). Its prevalence and clinical profile in Central and
+ Eastern Europe remain largely unknown. To determine the frequency and phenotypic
+ characteristics of FGF14 GAA.TTC repeat expansions, a large cohort of Polish
+ patients with undiagnosed adult-onset cerebellar ataxia was investigated. We
+ retrospectively analyzed 701 patients (age of onset >/= 25 years) with adult-onset
+ cerebellar ataxia of unknown etiology, previously tested negative for SCA1, SCA2,
+ SCA3, SCA8, and RFC1 expansions. GAA.TTC repeat lengths were assessed using
+ long-range and repeat-primed PCR. Expansions >/= 250 repeats were classified as
+ pathogenic. Clinical and MRI data were evaluated where available. A control group
+ of 66 neurologically healthy individuals was also screened. Pathogenic FGF14
+ expansions (>/= 250 repeats) were identified in 4.4% (31/701) of patients,
+ including 23 with fully penetrant (>/= 300) and 8 with incompletely penetrant
+ (250-299) alleles. No pathogenic expansions were found in controls. The mean age
+ of onset was 49.8 years. Common symptoms included balance and gait disturbances,
+ cerebellar syndrome, and episodic features such as diplopia. Cerebellar atrophy
+ was present in 45% of patients with available MRI. No significant correlation
+ between repeat length and age of onset was observed. Our findings confirm that
+ FGF14 repeat expansions are an underrecognized cause of LOCA in Poland and
+ support their inclusion in standard genetic testing for adult-onset ataxias.
+ Further studies are warranted to better define penetrance and genotype-phenotype
+ correlations.
+CI - (c) 2026. The Author(s).
+FAU - Matlawska, Marta
+AU - Matlawska M
+AUID- ORCID: 0000-0003-4310-5091
+AD - Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 ,
+ 02-957, Warsaw, Poland. mmatlawska@ipin.edu.pl.
+FAU - Ziora-Jakutowicz, Karolina
+AU - Ziora-Jakutowicz K
+AD - Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 ,
+ 02-957, Warsaw, Poland.
+FAU - Dicaire, Marie-Josee
+AU - Dicaire MJ
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+FAU - Pera, Joanna
+AU - Pera J
+AD - Department of Neurology, Jagiellonian University Medical College, Krakow, Poland.
+FAU - Pellerin, David
+AU - Pellerin D
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
+ London and The National Hospital for Neurology and Neurosurgery, University
+ College London, London, United Kingdom.
+FAU - Brais, Bernard
+AU - Brais B
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+FAU - Iruzubieta, Pablo
+AU - Iruzubieta P
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+FAU - Elert-Dobkowska, Ewelina
+AU - Elert-Dobkowska E
+AD - Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 ,
+ 02-957, Warsaw, Poland.
+FAU - Sulek, Anna
+AU - Sulek A
+AD - Faculty of Medicine, Lazarski University, Warsaw, Poland.
+LA - eng
+PT - Journal Article
+DEP - 20260507
+PL - United States
+TA - Cerebellum
+JT - Cerebellum (London, England)
+JID - 101089443
+RN - 62031-54-3 (Fibroblast Growth Factors)
+RN - 0 (fibroblast growth factor 14)
+SB - IM
+MH - Humans
+MH - Male
+MH - Female
+MH - Middle Aged
+MH - *Fibroblast Growth Factors/genetics
+MH - Poland/epidemiology
+MH - Adult
+MH - *Cerebellar Ataxia/genetics/diagnosis/epidemiology
+MH - Aged
+MH - Retrospective Studies
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Age of Onset
+MH - Magnetic Resonance Imaging
+PMC - PMC13152904
+OTO - NOTNLM
+OT - FGF14 expansion
+OT - Neurodegenerative disorders
+OT - SCA27B
+OT - Spinocerebellar ataxia
+COIS- Declarations. Human Ethics and Consent to Participate: The study was conducted in
+ accordance with the Declaration of Helsinki and its subsequent amendments. The
+ protocol was approved by the Local Bioethics Committee at the Institute of
+ Psychiatry and Neurology in Warsaw (resolution no. 30/2021 November 17, 2021).
+ Consents to Participate: Informed consent was obtained from all individual
+ participants included in the study. Competing Interests: The authors declare no
+ competing interests.
+EDAT- 2026/05/07 12:36
+MHDA- 2026/05/07 12:37
+PMCR- 2026/05/07
+CRDT- 2026/05/07 11:08
+PHST- 2025/09/07 00:00 [received]
+PHST- 2026/04/09 00:00 [accepted]
+PHST- 2026/05/07 12:37 [medline]
+PHST- 2026/05/07 12:36 [pubmed]
+PHST- 2026/05/07 11:08 [entrez]
+PHST- 2026/05/07 00:00 [pmc-release]
+AID - 10.1007/s12311-026-02003-4 [pii]
+AID - 2003 [pii]
+AID - 10.1007/s12311-026-02003-4 [doi]
+PST - epublish
+SO - Cerebellum. 2026 May 7;25(3):73. doi: 10.1007/s12311-026-02003-4.
+
+PMID- 42094143
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260525
+LR - 20260525
+DP - 2026 May 1
+TI - Genome-wide detection and clinical prioritization of tandem repeat outliers using
+ long-read sequencing.
+LID - 2026.04.30.26352103 [pii]
+LID - 10.64898/2026.04.30.26352103 [doi]
+AB - BACKGROUND: Tandem repeat expansions (TREs) cause over 60 known neurological,
+ neuromuscular, and developmental disorders. Detecting these expansions
+ genome-wide is challenging due to their size, sequence complexity (including
+ interruptions), and population variation. While long-read sequencing is an
+ emerging technology that can fully resolve many TREs, no methods have been
+ described for genome-wide identification and prioritization of candidate
+ pathogenic TREs with this technology. METHODS: Using a newly developed pipeline
+ called TRoLR (Tandem Repeat outliers identified with Long Reads), we analyzed
+ haplotype-resolved long-read genome assemblies from 471 ancestrally diverse
+ individuals to define population distributions for over three million tandem
+ repeat loci, capturing clinically relevant interruptions. Outlier expansions were
+ identified relative to these distributions and prioritized by genomic location
+ and comparison to known pathogenic loci. The framework was applied to 47 cases
+ from the Undiagnosed Diseases Network. RESULTS: Population stratification of
+ repeat metrics was observed at 7% of loci, with highest variability among
+ individuals of African ancestry. Outlier analysis confirmed known pathogenic CNBP
+ and ATXN8OS expansions, detected carrier-range alleles at RFC1, CSTB, and FXN,
+ and revealed a novel CGG expansion in the 5' UTR of PCMTD2 exhibiting
+ hypermethylation and intergenerational instability. Genome-wide screening also
+ identified intronic pentanucleotide expansions at IQCB1 and MAP3K15 in controls
+ composed of motifs that have been associated with pathogenicity at other disease
+ loci. CONCLUSIONS: Quantifying the longest uninterrupted repeat segment in
+ long-read assemblies enables detection of clinically relevant repeat expansions
+ and loss of stabilizing interruptions. This approach enhances both diagnostic
+ confirmation and discovery of candidate pathogenic expansions, with implications
+ for clinical interpretation and research into complex repeat-mediated disorders.
+FAU - Gibson, Sophia B
+AU - Gibson SB
+AUID- ORCID: 0000-0001-9839-9045
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+FAU - Damaraju, Nikhita
+AU - Damaraju N
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+AD - Institute for Public Health Genetics, University of Washington School of Public
+ Health, Seattle, WA.
+FAU - Gustafson, J Gus
+AU - Gustafson JG
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+AD - Molecular and Cellular Biology Program, University of Washington, Seattle, WA.
+FAU - Balton, Elsa V
+AU - Balton EV
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Chanprasert, Sirisak
+AU - Chanprasert S
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Glass, Ian A
+AU - Glass IA
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+FAU - Horike-Pyne, Martha
+AU - Horike-Pyne M
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Kumar, Runjun D
+AU - Kumar RD
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+FAU - Leppig, Kathleen A
+AU - Leppig KA
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Lundberg, Chris
+AU - Lundberg C
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Ranchalis, Jane
+AU - Ranchalis J
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Rosenthal, Elisabeth A
+AU - Rosenthal EA
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Solomon, Andrew K
+AU - Solomon AK
+AD - Division of Rheumatology, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Stergachis, Andrew B
+AU - Stergachis AB
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Wener, Mark
+AU - Wener M
+AD - Division of Rheumatology, Department of Medicine, University of Washington,
+ Seattle, WA.
+CN - Undiagnosed Diseases Network
+FAU - Jarvik, Gail P
+AU - Jarvik GP
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Blue, Elizabeth E
+AU - Blue EE
+AD - Institute for Public Health Genetics, University of Washington School of Public
+ Health, Seattle, WA.
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+AD - Brotman Baty Institute for Precision Medicine, University of Washington, Seattle,
+ WA.
+FAU - Dipple, Katrina M
+AU - Dipple KM
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Center for Clinical and Translational Research, Seattle Children's Research
+ Institute, Seattle, WA.
+FAU - Dashnow, Harriet
+AU - Dashnow H
+AD - Department of Biomedical Informatics, University of Colorado Anschutz, Aurora,
+ CO.
+FAU - Starita, Lea M
+AU - Starita LM
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Brotman Baty Institute for Precision Medicine, University of Washington, Seattle,
+ WA.
+FAU - Miller, Danny E
+AU - Miller DE
+AUID- ORCID: 0000-0001-6096-8601
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+AD - Brotman Baty Institute for Precision Medicine, University of Washington, Seattle,
+ WA.
+LA - eng
+PT - Journal Article
+PT - Preprint
+DEP - 20260501
+PL - United States
+TA - medRxiv
+JT - medRxiv : the preprint server for health sciences
+JID - 101767986
+PMC - PMC13142565
+OTO - NOTNLM
+OT - clinical genomics
+OT - long-read sequencing
+OT - longest pure segment
+OT - outlier detection
+OT - population reference
+OT - repeat expansion disorders
+OT - tandem repeat expansion
+EDAT- 2026/05/07 06:36
+MHDA- 2026/05/07 06:37
+PMCR- 2026/05/05
+CRDT- 2026/05/07 05:10
+PHST- 2026/05/07 06:36 [pubmed]
+PHST- 2026/05/07 06:37 [medline]
+PHST- 2026/05/07 05:10 [entrez]
+PHST- 2026/05/05 00:00 [pmc-release]
+AID - 2026.04.30.26352103 [pii]
+AID - 10.64898/2026.04.30.26352103 [doi]
+PST - epublish
+SO - medRxiv [Preprint]. 2026 May 1:2026.04.30.26352103. doi:
+ 10.64898/2026.04.30.26352103.
+
PMID- 42038259
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -125,7 +617,7 @@ SO - Brain Commun. 2026 Mar 16;8(2):fcag092. doi: 10.1093/braincomms/fcag092.
PMID- 41964406
OWN - NLM
STAT- Publisher
-LR - 20260414
+LR - 20260504
IS - 1531-8249 (Electronic)
IS - 0364-5134 (Linking)
DP - 2026 Apr 11
@@ -239,6 +731,7 @@ AD - Department of Genetics, Washington University School of Medicine, St. Loui
AD - Department of Pediatrics, Washington University School of Medicine, St. Louis,
MO.
LA - eng
+GR - U19 NS130607/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20260411
PL - United States
@@ -402,13 +895,14 @@ SO - J Neurol. 2026 Mar 16;273(4):211. doi: 10.1007/s00415-026-13751-y.
PMID- 41780084
OWN - NLM
-STAT- Publisher
-LR - 20260304
+STAT- MEDLINE
+DCOM- 20260528
+LR - 20260528
IS - 1879-1476 (Electronic)
IS - 0385-8146 (Linking)
VI - 53
IP - 3
-DP - 2026 Mar 3
+DP - 2026 Jun
TI - Vestibular assessment in definite cerebellar Ataxia, Neuropathy, Vestibular
Areflexia Syndrome (CANVAS): A case of siblings study.
PG - 309-323
@@ -495,6 +989,18 @@ TA - Auris Nasus Larynx
JT - Auris, nasus, larynx
JID - 7708170
SB - IM
+MH - Humans
+MH - Aged
+MH - Male
+MH - Female
+MH - Siblings
+MH - *Cerebellar Ataxia/physiopathology/genetics/diagnosis
+MH - Magnetic Resonance Imaging
+MH - *Bilateral Vestibulopathy/physiopathology/genetics/diagnosis
+MH - Reflex, Vestibulo-Ocular
+MH - Vestibular Evoked Myogenic Potentials
+MH - Vestibular Function Tests
+MH - Head Impulse Test
OTO - NOTNLM
OT - CANVAS
OT - Electronystagmography
@@ -506,18 +1012,19 @@ COIS- Declaration of competing interest The authors declare that they have no kn
competing financial or personal relationships that could be viewed as influencing
the work reported in this paper.
EDAT- 2026/03/04 18:43
-MHDA- 2026/03/04 18:43
+MHDA- 2026/05/29 15:44
CRDT- 2026/03/04 17:59
PHST- 2025/03/25 00:00 [received]
PHST- 2025/11/09 00:00 [revised]
PHST- 2026/02/06 00:00 [accepted]
-PHST- 2026/03/04 18:43 [medline]
+PHST- 2026/05/29 15:44 [medline]
PHST- 2026/03/04 18:43 [pubmed]
PHST- 2026/03/04 17:59 [entrez]
AID - S0385-8146(26)00022-2 [pii]
AID - 10.1016/j.anl.2026.02.002 [doi]
-PST - aheadofprint
-SO - Auris Nasus Larynx. 2026 Mar 3;53(3):309-323. doi: 10.1016/j.anl.2026.02.002.
+PST - ppublish
+SO - Auris Nasus Larynx. 2026 Jun;53(3):309-323. doi: 10.1016/j.anl.2026.02.002. Epub
+ 2026 Mar 3.
PMID- 41689662
OWN - NLM
@@ -1203,30 +1710,37 @@ SO - Brain Commun. 2025 Dec 9;7(6):fcaf482. doi: 10.1093/braincomms/fcaf482.
PMID- 41327893
OWN - NLM
-STAT- Publisher
-LR - 20251209
+STAT- MEDLINE
+DCOM- 20260505
+LR - 20260507
IS - 1460-2156 (Electronic)
+IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
-DP - 2025 Dec 2
+VI - 149
+IP - 5
+DP - 2026 May 5
TI - Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease.
-LID - awaf456 [pii]
+PG - 1514-1521
LID - 10.1093/brain/awaf456 [doi]
AB - Pathogenic GAA repeat expansions in FGF14 are an established cause of late-onset
- cerebellar ataxia, but have not been linked to Parkinson's disease (PD). Given
- emerging evidence that repeat expansions in ataxia-associated genes like RFC1,
- can contribute to atypical or familial forms of PD, we investigated whether FGF14
- expansions might play a similar role. Using long-read whole-genome sequencing, we
- analyzed 411 individuals with PD and 197 neurologically healthy controls from the
- PPMI cohort, together with 1,429 additional controls from the NIH CARD
- initiative, the 1000 Genomes Project, and the All of Us program, representing
- globally diverse populations. We identified pathogenic FGF14 GAA repeat
- expansions in five individuals with PD and one control. All five individuals fit
- the clinical criteria of PD and showed typical patterns of neurodegeneration on
- DaTSCAN imaging; alpha-synuclein aggregation was confirmed by a positive seeding
- assay among four individuals with available data. These findings broaden the
- phenotypic spectrum of FGF14 repeat-associated disease and suggest a rare,
- previously unrecognized genetic contributor to PD. To our knowledge, this is the
- first report implicating FGF14 in PD and underscores the utility of long-read
+ cerebellar ataxia, but have not been linked to Parkinson's disease. Given
+ emerging evidence that repeat expansions in ataxia-associated genes like RFC1 can
+ contribute to atypical or familial forms of Parkinson's disease, we investigated
+ whether FGF14 expansions might play a similar role. Using long-read whole-genome
+ sequencing, we analysed 411 individuals with Parkinson's disease and 197
+ neurologically healthy controls from the Parkinson's Progression Markers
+ Initiative (PPMI) cohort, together with 1429 additional controls from the
+ National Institutes of Health (NIH) Center for Alzheimer's Disease and Related
+ Dementias (CARD) initiative, the 1000 Genomes Project, and the All of Us program,
+ representing globally diverse populations. We identified pathogenic FGF14 GAA
+ repeat expansions in five individuals with Parkinson's disease and one control
+ subject. All five individuals fit the clinical criteria of Parkinson's disease
+ and showed typical patterns of neurodegeneration on DaTSCAN imaging; alpha-synuclein
+ aggregation was confirmed by a positive seeding assay among four individuals with
+ available data. These findings broaden the phenotypic spectrum of FGF14
+ repeat-associated disease and suggest a rare, previously unrecognized genetic
+ contributor to Parkinson's disease. To our knowledge, this is the first report
+ implicating FGF14 in Parkinson's disease and underscores the utility of long-read
sequencing for detecting hidden forms of pathogenic variation in unresolved
cases.
CI - (c) The Author(s) 2025. Published by Oxford University Press on behalf of the
@@ -1284,7 +1798,7 @@ AD - Center for Alzheimer's and Related Dementias, National Institute on Aging
Health, Bethesda, MD 20892, USA.
FAU - Meredith, Melissa
AU - Meredith M
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Kouam, Cedric
AU - Kouam C
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
@@ -1317,7 +1831,7 @@ AD - Laboratory of Neurogenetics, National Institute on Aging, National Institu
Health, Bethesda, MD 20892, USA.
FAU - Casey, Bradford
AU - Casey B
-AD - The Michael J. Fox Foundation for Parkinson's Research, Department of Clinical
+AD - Department of Clinical Research, The Michael J. Fox Foundation for Parkinson's
Research, New York, NY 10163, USA.
FAU - Iwaki, Hirotaka
AU - Iwaki H
@@ -1325,7 +1839,7 @@ AUID- ORCID: 0000-0002-8982-7885
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Bandres-Ciga, Sara
AU - Bandres-Ciga S
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
@@ -1334,17 +1848,17 @@ AD - Center for Alzheimer's and Related Dementias, National Institute on Aging
FAU - Saffie-Awad, Paula
AU - Saffie-Awad P
AD - Clinica Santa Maria, Santiago 7520349, Chile.
-AD - Department of Specialties, Faculty of Medicine, University of Concepcion, 4070409
- Concepcion, Chile.
-FAU - Nalls, Mike
-AU - Nalls M
+AD - Department of Specialties, Faculty of Medicine, University of Concepcion,
+ Concepcion 4070409, Chile.
+FAU - Nalls, Mike A
+AU - Nalls MA
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Fang, Zih-Hua
AU - Fang ZH
-AD - German Center for Neurodegenerative Diseases (DZNE), 72076 Tubingen, Germany.
+AD - German Center for Neurodegenerative Diseases (DZNE), Tubingen 72076, Germany.
FAU - Singleton, Andrew B
AU - Singleton AB
AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
@@ -1361,39 +1875,68 @@ AD - Center for Alzheimer's and Related Dementias, National Institute on Aging
Health, Bethesda, MD 20892, USA.
FAU - Billingsley, Kimberley J
AU - Billingsley KJ
-AUID- ORCID: 0000-0002-2623-5997
+AUID- ORCID: 0000-0002-8003-4029
AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
Health, Bethesda, MD 20892, USA.
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
LA - eng
+GR - AG/NIA NIH HHS/United States
+GR - NS/NINDS NIH HHS/United States
+GR - Z01-AG000949/National Institutes of Health, Department of Health and Human
+ Services/
+GR - 1ZIANS003154/National Institutes of Health, Department of Health and Human
+ Services/
+GR - NIH HPC Biowulf cluster/
PT - Journal Article
-DEP - 20251202
PL - England
TA - Brain
JT - Brain : a journal of neurology
JID - 0372537
+RN - 62031-54-3 (Fibroblast Growth Factors)
+RN - 0 (fibroblast growth factor 14)
+RN - 0 (alpha-Synuclein)
SB - IM
UOF - medRxiv. 2025 Aug 19:2025.08.14.25333596. doi: 10.1101/2025.08.14.25333596. PMID:
40894141
+MH - Humans
+MH - *Parkinson Disease/genetics/diagnostic imaging
+MH - Male
+MH - Female
+MH - Aged
+MH - *Fibroblast Growth Factors/genetics
+MH - Middle Aged
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Whole Genome Sequencing
+MH - alpha-Synuclein/metabolism
+MH - Cohort Studies
+MH - Aged, 80 and over
+PMC - PMC13140659
OTO - NOTNLM
OT - FGF14
OT - Parkinson's disease
OT - long-read sequencing
OT - short tandem repeats
+COIS- M.A.N.'s participation in this project was part of a competitive contract awarded
+ to DataTecnica LLC by the National Institutes of Health to support open science
+ research; he also currently owns stock in Character Bio and Neuron23 Inc.
EDAT- 2025/12/02 07:36
-MHDA- 2025/12/02 07:36
+MHDA- 2026/05/05 12:38
+PMCR- 2025/12/02
CRDT- 2025/12/02 02:24
PHST- 2025/08/12 00:00 [received]
PHST- 2025/11/05 00:00 [revised]
-PHST- 2025/12/02 07:36 [medline]
+PHST- 2025/11/15 00:00 [accepted]
+PHST- 2026/05/05 12:38 [medline]
PHST- 2025/12/02 07:36 [pubmed]
PHST- 2025/12/02 02:24 [entrez]
+PHST- 2025/12/02 00:00 [pmc-release]
AID - 8362499 [pii]
+AID - awaf456 [pii]
AID - 10.1093/brain/awaf456 [doi]
-PST - aheadofprint
-SO - Brain. 2025 Dec 2:awaf456. doi: 10.1093/brain/awaf456.
+PST - ppublish
+SO - Brain. 2026 May 5;149(5):1514-1521. doi: 10.1093/brain/awaf456.
PMID- 41322202
OWN - NLM
@@ -2777,7 +3320,7 @@ PMID- 40894141
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20251209
-LR - 20251209
+LR - 20260505
DP - 2025 Aug 19
TI - Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease.
LID - 2025.08.14.25333596 [pii]
@@ -2978,7 +3521,7 @@ PL - United States
TA - medRxiv
JT - medRxiv : the preprint server for health sciences
JID - 101767986
-UIN - Brain. 2025 Dec 02:awaf456. doi: 10.1093/brain/awaf456. PMID: 41327893
+UIN - Brain. 2026 May 5;149(5):1514-1521. doi: 10.1093/brain/awaf456. PMID: 41327893
PMC - PMC12393589
COIS- Conflicts of interest M.A.N. 's participation in this project was part of a
competitive contract awarded to DataTecnica LLC by the National Institutes of
@@ -4156,7 +4699,7 @@ PMID- 40417743
OWN - NLM
STAT- MEDLINE
DCOM- 20250803
-LR - 20260416
+LR - 20260523
IS - 1530-0366 (Electronic)
IS - 1098-3600 (Print)
IS - 1098-3600 (Linking)
@@ -4281,10 +4824,12 @@ AD - Dr John T. Macdonald Foundation Department of Human Genetics and John P. H
Institute for Human Genetics, University of Miami Miller School of Medicine,
Miami, FL. Electronic address: szuchner@med.miami.edu.
LA - eng
-GR - K99 HG012796/HG/NHGRI NIH HHS/United States
GR - R00 HG012796/HG/NHGRI NIH HHS/United States
-GR - RC2 TR004391/TR/NCATS NIH HHS/United States
GR - U01 NS134353/NS/NINDS NIH HHS/United States
+GR - U01 HG007672/HG/NHGRI NIH HHS/United States
+GR - RC2 TR004391/TR/NCATS NIH HHS/United States
+GR - K99 HG012796/HG/NHGRI NIH HHS/United States
+GR - U01 NS134350/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20250522
PL - United States
@@ -4954,10 +5499,10 @@ CRDT- 2025/05/26 06:18
PHST- 2024/08/07 00:00 [received]
PHST- 2025/05/15 00:00 [revised]
PHST- 2025/05/16 00:00 [accepted]
-PHST- 2026/05/22 00:00 [pmc-release]
PHST- 2025/08/03 12:31 [medline]
PHST- 2025/05/26 12:37 [pubmed]
PHST- 2025/05/26 06:18 [entrez]
+PHST- 2026/05/22 00:00 [pmc-release]
AID - S1098-3600(25)00109-1 [pii]
AID - 10.1016/j.gim.2025.101462 [doi]
PST - ppublish
@@ -5713,7 +6258,7 @@ PMID- 40113266
OWN - NLM
STAT- MEDLINE
DCOM- 20250414
-LR - 20250504
+LR - 20260507
IS - 1549-5469 (Electronic)
IS - 1088-9051 (Print)
IS - 1088-9051 (Linking)
@@ -5850,7 +6395,10 @@ AD - Department of Internal Medicine, Radboud Expertise Center for Immunodefici
and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud
University Medical Center, 6525GA Nijmegen, the Netherlands.
LA - eng
+GR - 779257/ERC_/European Research Council/International
+GR - 101156595/ERC_/European Research Council/International
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20250414
PL - United States
TA - Genome Res
@@ -6707,7 +7255,7 @@ PMID- 39571249
OWN - NLM
STAT- MEDLINE
DCOM- 20241212
-LR - 20241212
+LR - 20260506
IS - 1878-5883 (Electronic)
IS - 0022-510X (Linking)
VI - 467
@@ -7278,7 +7826,7 @@ PMID- 39406499
OWN - NLM
STAT- MEDLINE
DCOM- 20241120
-LR - 20241204
+LR - 20260506
IS - 1549-5469 (Electronic)
IS - 1088-9051 (Print)
IS - 1088-9051 (Linking)
@@ -7400,6 +7948,7 @@ AD - Delft Bioinformatics Lab, Delft University of Technology, 2628CD Delft, Th
Netherlands.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20241120
PL - United States
TA - Genome Res
@@ -9136,7 +9685,7 @@ PMID- 38381906
OWN - NLM
STAT- MEDLINE
DCOM- 20240508
-LR - 20241026
+LR - 20260526
IS - 1362-4962 (Electronic)
IS - 0305-1048 (Print)
IS - 0305-1048 (Linking)
@@ -9206,6 +9755,9 @@ AUID- ORCID: 0000-0003-4576-7582
AD - Department of Biology, Tufts University, Medford, MA 02155, USA.
LA - eng
GR - R35GM127131/GM/NIGMS NIH HHS/United States
+GR - HHSN261201500003C/CA/NCI NIH HHS/United States
+GR - HHSN261201000031C/CA/NCI NIH HHS/United States
+GR - HHSN261201500001C/CA/NCI NIH HHS/United States
GR - HHSN2612015000031/BC/NCI NIH HHS/United States
GR - R35 GM127131/GM/NIGMS NIH HHS/United States
GR - R35GM130322/GM/NIGMS NIH HHS/United States
@@ -9758,7 +10310,7 @@ PMID- 38266156
OWN - NLM
STAT- MEDLINE
DCOM- 20240322
-LR - 20241106
+LR - 20260530
IS - 1362-4962 (Electronic)
IS - 0305-1048 (Print)
IS - 0305-1048 (Linking)
@@ -9837,11 +10389,13 @@ AD - Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Ac
AD - Institute of Molecular Medicine (IMM) Renji Hospital, School of Medicine,
Shanghai Jiao Tong University, Shanghai 200127, China.
LA - eng
+SI - PDB/8X1V
GR - 2021YFA0909400/National Key Research and Development Program of China/
GR - 32341017/National Natural Science Foundation of China/
GR - 2023SDYXS0002/Zhejiang Provincial Jianbing Lingyan Research and Development
Project/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
PL - England
TA - Nucleic Acids Res
JT - Nucleic acids research
@@ -10709,7 +11263,7 @@ PMID- 38062616
OWN - NLM
STAT- MEDLINE
DCOM- 20240301
-LR - 20260127
+LR - 20260528
IS - 1531-8249 (Electronic)
IS - 0364-5134 (Linking)
VI - 95
@@ -10855,6 +11409,7 @@ GR - Naito Foundation/
GR - Takeda Foundation/
GR - #SK2804/Yokohama City University/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20231227
PL - United States
TA - Ann Neurol
@@ -12409,7 +12964,7 @@ PMID- 37450567
OWN - NLM
STAT- MEDLINE
DCOM- 20231215
-LR - 20260127
+LR - 20260518
IS - 1460-2156 (Electronic)
IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
@@ -18498,7 +19053,7 @@ PMID- 33495376
OWN - NLM
STAT- MEDLINE
DCOM- 20210315
-LR - 20210421
+LR - 20260518
IS - 1526-632X (Electronic)
IS - 0028-3878 (Print)
IS - 0028-3878 (Linking)
diff --git a/data/literature/RILPL1_batch_01.txt b/data/literature/RILPL1_batch_01.txt
index 4c3b24ad..ade8439a 100644
--- a/data/literature/RILPL1_batch_01.txt
+++ b/data/literature/RILPL1_batch_01.txt
@@ -3,7 +3,7 @@ PMID- 41792844
OWN - NLM
STAT- MEDLINE
DCOM- 20260415
-LR - 20260423
+LR - 20260511
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
VI - 14
@@ -66,6 +66,10 @@ AD - Department of Neurology, Washington University School of Medicine, Saint L
MO, USA. weihlc@wustl.edu.
LA - eng
GR - R01 NS086810/NS/NINDS NIH HHS/United States
+GR - R01 AG031867/AG/NIA NIH HHS/United States
+GR - K24 AR073317/AR/NIAMS NIH HHS/United States
+GR - P50 HD104463/HD/NICHD NIH HHS/United States
+GR - R21 NS129096/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20260306
PL - England
@@ -113,15 +117,20 @@ SO - Acta Neuropathol Commun. 2026 Mar 6;14(1):90. doi: 10.1186/s40478-026-0227
PMID- 40645757
OWN - NLM
-STAT- Publisher
-LR - 20250711
+STAT- MEDLINE
+DCOM- 20260514
+LR - 20260530
IS - 1468-330X (Electronic)
+IS - 0022-3050 (Print)
IS - 0022-3050 (Linking)
-DP - 2025 Jul 11
+VI - 97
+IP - 6
+DP - 2026 May 14
TI - CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000
Genomes Project.
-LID - jnnp-2025-336590 [pii]
+PG - 479-482
LID - 10.1136/jnnp-2025-336590 [doi]
+LID - e336590
AB - BACKGROUND: CGG expansions in NOTCH2NLC and LRP12 were recently identified as a
cause of Charcot-Marie-Tooth disease (CMT) in 1.2%-10.6% of genetically
undiagnosed patients in China, Taiwan and Japan. However, their relevance in CMT
@@ -143,7 +152,7 @@ AB - BACKGROUND: CGG expansions in NOTCH2NLC and LRP12 were recently identified
non-pathogenic intermediate alleles of NOTCH2NLC and LRP12 in East Asians could
explain their ancestry-specific propensity to further expand into the full
pathogenic range.
-CI - (c) Author(s) (or their employer(s)) 2025. Re-use permitted under CC BY. Published
+CI - (c) Author(s) (or their employer(s)) 2026. Re-use permitted under CC BY. Published
by BMJ Group.
FAU - Bertini, Alessandro
AU - Bertini A
@@ -206,29 +215,47 @@ AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurol
London, UK andrea.cortese@ucl.ac.uk.
LA - eng
PT - Journal Article
-DEP - 20250711
+DEP - 20260514
PL - England
TA - J Neurol Neurosurg Psychiatry
JT - Journal of neurology, neurosurgery, and psychiatry
JID - 2985191R
+RN - 0 (NOTCH2NLC protein, human)
+RN - 0 (LDL-Receptor Related Proteins)
+RN - 0 (Nerve Tissue Proteins)
+RN - 0 (Intercellular Signaling Peptides and Proteins)
SB - IM
+MH - Humans
+MH - *Charcot-Marie-Tooth Disease/genetics
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Male
+MH - Female
+MH - Whole Genome Sequencing
+MH - LDL-Receptor Related Proteins/genetics
+MH - Adult
+MH - Asian People/genetics
+MH - Nerve Tissue Proteins
+MH - Intercellular Signaling Peptides and Proteins
+PMC - PMC13217079
OTO - NOTNLM
OT - NEUROGENETICS
OT - NEUROMUSCULAR
OT - NEUROPATHY
COIS- Competing interests: None declared.
EDAT- 2025/07/12 16:44
-MHDA- 2025/07/12 16:44
+MHDA- 2026/05/15 00:31
+PMCR- 2026/05/28
CRDT- 2025/07/11 21:13
PHST- 2025/04/24 00:00 [received]
PHST- 2025/06/11 00:00 [accepted]
-PHST- 2025/07/12 16:44 [medline]
+PHST- 2026/05/15 00:31 [medline]
PHST- 2025/07/12 16:44 [pubmed]
PHST- 2025/07/11 21:13 [entrez]
+PHST- 2026/05/28 00:00 [pmc-release]
AID - jnnp-2025-336590 [pii]
AID - 10.1136/jnnp-2025-336590 [doi]
-PST - aheadofprint
-SO - J Neurol Neurosurg Psychiatry. 2025 Jul 11:jnnp-2025-336590. doi:
+PST - epublish
+SO - J Neurol Neurosurg Psychiatry. 2026 May 14;97(6):479-482. doi:
10.1136/jnnp-2025-336590.
PMID- 40084170
diff --git a/data/literature/RUNX2_batch_01.txt b/data/literature/RUNX2_batch_01.txt
index 98cef9f9..cd757bb1 100644
--- a/data/literature/RUNX2_batch_01.txt
+++ b/data/literature/RUNX2_batch_01.txt
@@ -1007,6 +1007,7 @@ STAT- MEDLINE
DCOM- 20120313
LR - 20250529
IS - 1523-4681 (Electronic)
+IS - 0884-0431 (Print)
IS - 0884-0431 (Linking)
VI - 26
IP - 12
diff --git a/data/literature/SAMD12_batch_01.txt b/data/literature/SAMD12_batch_01.txt
index ac243f3f..c731c942 100644
--- a/data/literature/SAMD12_batch_01.txt
+++ b/data/literature/SAMD12_batch_01.txt
@@ -3069,7 +3069,7 @@ PMID- 31664039
OWN - NLM
STAT- MEDLINE
DCOM- 20200225
-LR - 20231014
+LR - 20260518
IS - 2041-1723 (Electronic)
IS - 2041-1723 (Linking)
VI - 10
diff --git a/data/literature/TAF1_batch_01.txt b/data/literature/TAF1_batch_01.txt
index 724ff4e6..a17e2dcf 100644
--- a/data/literature/TAF1_batch_01.txt
+++ b/data/literature/TAF1_batch_01.txt
@@ -3,7 +3,7 @@ PMID- 41443196
OWN - NLM
STAT- MEDLINE
DCOM- 20260109
-LR - 20260307
+LR - 20260512
IS - 1537-6605 (Electronic)
IS - 0002-9297 (Print)
IS - 0002-9297 (Linking)
@@ -844,8 +844,9 @@ PMID- 35971992
OWN - NLM
STAT- MEDLINE
DCOM- 20221115
-LR - 20260418
+LR - 20260523
IS - 1531-8257 (Electronic)
+IS - 0885-3185 (Print)
IS - 0885-3185 (Linking)
VI - 37
IP - 11
@@ -921,6 +922,8 @@ MH - *Dystonic Disorders/metabolism
MH - *Genetic Diseases, X-Linked/genetics
MH - Introns
MH - C9orf72 Protein/genetics
+PMC - PMC13197201
+MID - NIHMS2172834
OTO - NOTNLM
OT - Dipeptide repeat proteins
OT - RAN translation
@@ -928,8 +931,15 @@ OT - SVA retrotransposon
OT - TAF1
OT - X-linked dystonia-parkinsonism
OT - repeat expansion
+COIS- C.K. serves as a medical advisor on genetic testing reports to Centogene and is a
+ member of the Scientific Advisory Board of Retromer Therapeutics. C.J.R. was
+ supported by a PhD scholarship from the Katholischer Akademischer
+ Auslaender-Dienst (KAAD) and is currently funded by a postdoctoral fellowship
+ from the Collaborative Center for X-linked Dystonia-Parkinsonism (CCXDP) at
+ Massachusetts General Hospital.
EDAT- 2022/08/17 06:00
MHDA- 2022/11/16 06:00
+PMCR- 2026/05/22
CRDT- 2022/08/16 07:04
PHST- 2022/07/05 00:00 [revised]
PHST- 2022/05/01 00:00 [received]
@@ -937,6 +947,7 @@ PHST- 2022/07/21 00:00 [accepted]
PHST- 2022/08/17 06:00 [pubmed]
PHST- 2022/11/16 06:00 [medline]
PHST- 2022/08/16 07:04 [entrez]
+PHST- 2026/05/22 00:00 [pmc-release]
AID - 10.1002/mds.29183 [doi]
PST - ppublish
SO - Mov Disord. 2022 Nov;37(11):2284-2289. doi: 10.1002/mds.29183. Epub 2022 Aug 16.
@@ -1015,19 +1026,20 @@ SO - Med Genet. 2022 Aug 12;34(2):97-102. doi: 10.1515/medgen-2022-2135. eColle
PMID- 35868859
OWN - NLM
-STAT- Publisher
-LR - 20240216
+STAT- MEDLINE
+DCOM- 20260512
+LR - 20260512
IS - 2373-2822 (Electronic)
IS - 2373-2822 (Linking)
VI - 9
IP - 4
-DP - 2022 Jul 21
-TI - Variation in TAF1 expression in female carrier induced pluripotent stem cells and
- human brain ontogeny has implications for adult neostriatum vulnerability in
- X-linked Dystonia Parkinsonism.
+DP - 2022 Jul-Aug
+TI - Variation in TAF1 Expression in Female Carrier-Induced Pluripotent Stem Cells and
+ Human Brain Ontogeny Has Implications for Adult Neostriatum Vulnerability in
+ X-Linked Dystonia Parkinsonism.
LID - ENEURO.0129-22.2022 [pii]
LID - 10.1523/ENEURO.0129-22.2022 [doi]
-AB - X-linked Dystonia-Parkinsonism (XDP) is an inherited, X-linked, adult-onset
+AB - X-linked dystonia-parkinsonism (XDP) is an inherited, X-linked, adult-onset
movement disorder characterized by degeneration in the neostriatum. No
therapeutics alter disease progression. The mechanisms underlying regional
differences in degeneration and adult onset are unknown. Developing therapeutics
@@ -1038,155 +1050,162 @@ AB - X-linked Dystonia-Parkinsonism (XDP) is an inherited, X-linked, adult-onse
all XDP males are usually clinically affected, females are heterozygous carriers
generally not manifesting the full syndrome. As a resource for disease modeling,
we characterized eight iPSC lines from three XDP female carrier individuals for X
- chromosome inactivation status and identified clonal lines that express either
- the wild-type X or XDP haplotype. Furthermore, we characterized XDP-relevant
- transcript expression in neurotypical humans, and found that SVA-F expression
- decreases after 30 years of age in the brain and that TAF1 is decreased in most
- female samples. Uniquely in the caudate nucleus, TAF1 expression is not sexually
- dimorphic and decreased after adolescence. These findings indicate that
- regional-, age- and sex-specific mechanisms regulate TAF1, highlighting the
- importance of disease-relevant models and postmortem tissue. We propose that the
- decreased TAF1 expression in the adult caudate may synergize with the
- XDP-specific partial loss of TAF1 function in patients, thereby passing a minimum
- threshold of TAF1 function, and triggering degeneration in the
- neostriatum.Significance StatementXDP is an inherited, X-linked, adult-onset
- movement disorder characterized by degeneration in the neostriatum. No
- therapeutics alter disease progression. Developing therapeutics requires a deeper
- understanding of how XDP-relevant features vary in health and disease. XDP is
- possibly due to a partial loss of TAF1 function. While all XDP males are usually
- affected, females are heterozygous carriers generally not manifesting the full
- syndrome. As a resource for disease modeling, we characterized eight stem cell
- lines from XDP female carrier individuals. Furthermore, we found that, uniquely
- in the caudate nucleus, TAF1 expression decreases after adolescence in healthy
- humans. We hypothesize that the decrease of TAF1 after adolescence in human
- caudate, in general, may underlie the vulnerability of the adult neostriatum in
- XDP.
+ chromosome inactivation (XCI) status and identified clonal lines that express
+ either the wild-type X or XDP haplotype. Furthermore, we characterized
+ XDP-relevant transcript expression in neurotypical humans, and found that SVA-F
+ expression decreases after 30 years of age in the brain and that TAF1 is
+ decreased in most female samples. Uniquely in the caudate nucleus, TAF1
+ expression is not sexually dimorphic and decreased after adolescence. These
+ findings indicate that regional-specific, age-specific, and sex-specific
+ mechanisms regulate TAF1, highlighting the importance of disease-relevant models
+ and postmortem tissue. We propose that the decreased TAF1 expression in the adult
+ caudate may synergize with the XDP-specific partial loss of TAF1 function in
+ patients, thereby passing a minimum threshold of TAF1 function, and triggering
+ degeneration in the neostriatum.
CI - Copyright (c) 2022 D'Ignazio et al.
FAU - D'Ignazio, Laura
AU - D'Ignazio L
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
FAU - Jacomini, Ricardo S
AU - Jacomini RS
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
FAU - Qamar, Bareera
AU - Qamar B
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
FAU - Benjamin, Kynon J M
AU - Benjamin KJM
AUID- ORCID: 0000-0003-2016-4646
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
AD - Department of Psychiatry & Behavioral Sciences, School of Medicine, Johns Hopkins
- University, Baltimore, MD 21205, USA.
+ University, Baltimore, MD 21205.
FAU - Arora, Ria
AU - Arora R
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Biology, Krieger School of Arts & Sciences, Johns Hopkins
- University, Baltimore, MD 21218, USA.
+ University, Baltimore, MD 21218.
FAU - Sawada, Tomoyo
AU - Sawada T
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
FAU - Evans, Taylor A
AU - Evans TA
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
FAU - Diffenderfer, Kenneth E
AU - Diffenderfer KE
-AD - Stem Cell Core, Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
+AD - Stem Cell Core, Salk Institute for Biological Studies, La Jolla, CA 92037.
FAU - Pankonin, Aimee R
AU - Pankonin AR
-AD - Stem Cell Core, Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
+AD - Stem Cell Core, Salk Institute for Biological Studies, La Jolla, CA 92037.
FAU - Hendriks, William T
AU - Hendriks WT
-AD - Department of Neurology, Massachusetts General Hospital and Harvard Medical
- School, Boston, MA 02114, USA.
+AD - Department of Neurology, Massachusetts General Hospital, Harvard Medical School,
+ Boston, MA 02114.
AD - The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts
- General Hospital, Charlestown, MA 02129, USA.
+ General Hospital, Charlestown, MA 02129.
FAU - Hyde, Thomas M
AU - Hyde TM
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Psychiatry & Behavioral Sciences, School of Medicine, Johns Hopkins
- University, Baltimore, MD 21205, USA.
+ University, Baltimore, MD 21205.
FAU - Kleinman, Joel E
AU - Kleinman JE
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Psychiatry & Behavioral Sciences, School of Medicine, Johns Hopkins
- University, Baltimore, MD 21205, USA.
+ University, Baltimore, MD 21205.
FAU - Weinberger, Daniel R
AU - Weinberger DR
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
AD - Department of Psychiatry & Behavioral Sciences, School of Medicine, Johns Hopkins
- University, Baltimore, MD 21205, USA.
+ University, Baltimore, MD 21205.
AD - Department of Neuroscience, School of Medicine, Johns Hopkins University,
- Baltimore, MD 21205, USA.
+ Baltimore, MD 21205.
AD - McKusick-Nathans Department of Genetic Medicine, School of Medicine, Johns
- Hopkins University Baltimore, MD 21205, USA.
+ Hopkins University, Baltimore, MD 21205.
FAU - Bragg, D Cristopher
AU - Bragg DC
-AD - Department of Neurology, Massachusetts General Hospital and Harvard Medical
- School, Boston, MA 02114, USA.
+AD - Department of Neurology, Massachusetts General Hospital, Harvard Medical School,
+ Boston, MA 02114.
AD - The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts
- General Hospital, Charlestown, MA 02129, USA.
+ General Hospital, Charlestown, MA 02129.
FAU - Paquola, Apua C M
AU - Paquola ACM
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
FAU - Erwin, Jennifer A
AU - Erwin JA
AUID- ORCID: 0000-0002-6784-9290
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205
jennifer.erwin@libd.org.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
AD - Department of Psychiatry & Behavioral Sciences, School of Medicine, Johns Hopkins
- University, Baltimore, MD 21205, USA.
+ University, Baltimore, MD 21205.
AD - Department of Neuroscience, School of Medicine, Johns Hopkins University,
- Baltimore, MD 21205, USA.
+ Baltimore, MD 21205.
LA - eng
GR - T32 MH015330/MH/NIMH NIH HHS/United States
PT - Journal Article
-DEP - 20220721
+DEP - 20220830
PL - United States
TA - eNeuro
JT - eNeuro
JID - 101647362
+RN - 0 (Transcription Factor TFIID)
+RN - 0 (TATA-Binding Protein Associated Factors)
+RN - EC 2.7.11.1 (TATA-binding protein associated factor 250 kDa)
+RN - EC 2.3.1.48 (Histone Acetyltransferases)
+RN - Dystonia 3, Torsion, X-Linked
SB - IM
+MH - Humans
+MH - *Transcription Factor TFIID/metabolism/genetics
+MH - *TATA-Binding Protein Associated Factors/metabolism/genetics
+MH - Female
+MH - *Genetic Diseases, X-Linked/metabolism/genetics/pathology
+MH - *Dystonic Disorders/genetics/metabolism/pathology
+MH - *Induced Pluripotent Stem Cells/metabolism
+MH - *Histone Acetyltransferases/metabolism/genetics
+MH - Adult
+MH - Male
+MH - Heterozygote
+MH - *Brain/metabolism/growth & development
+MH - X Chromosome Inactivation
PMC - PMC9428949
OTO - NOTNLM
OT - SVA retrotransposon
-OT - X-linked Dystonia Parkinsonism
+OT - X-linked dystonia parkinsonism
OT - induced pluripotent stem cells
OT - movement disorder
OT - neurodegeneration
OT - repeat expansion
-COIS- Authors report no conflict of interest
EDAT- 2022/07/23 06:00
-MHDA- 2022/07/23 06:00
+MHDA- 2026/05/12 06:36
PMCR- 2022/08/17
CRDT- 2022/07/22 21:41
PHST- 2022/03/24 00:00 [received]
PHST- 2022/06/14 00:00 [revised]
PHST- 2022/07/03 00:00 [accepted]
-PHST- 2022/07/22 21:41 [entrez]
+PHST- 2026/05/12 06:36 [medline]
PHST- 2022/07/23 06:00 [pubmed]
-PHST- 2022/07/23 06:00 [medline]
+PHST- 2022/07/22 21:41 [entrez]
PHST- 2022/08/17 00:00 [pmc-release]
AID - ENEURO.0129-22.2022 [pii]
AID - eN-NWR-0129-22 [pii]
AID - 10.1523/ENEURO.0129-22.2022 [doi]
-PST - aheadofprint
-SO - eNeuro. 2022 Jul 21;9(4):ENEURO.0129-22.2022. doi: 10.1523/ENEURO.0129-22.2022.
+PST - epublish
+SO - eNeuro. 2022 Aug 30;9(4):ENEURO.0129-22.2022. doi: 10.1523/ENEURO.0129-22.2022.
+ Print 2022 Jul-Aug.
PMID- 35481544
OWN - NLM
diff --git a/data/literature/TBC1D7_batch_01.txt b/data/literature/TBC1D7_batch_01.txt
new file mode 100644
index 00000000..40404d89
--- /dev/null
+++ b/data/literature/TBC1D7_batch_01.txt
@@ -0,0 +1,126 @@
+
+PMID- 41959811
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260410
+LR - 20260410
+DP - 2026 Apr 1
+TI - A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy.
+LID - 2026.03.27.26349107 [pii]
+LID - 10.64898/2026.03.27.26349107 [doi]
+AB - Oculopharyngodistal myopathy (OPDM) is a group of rare, hereditary myopathies
+ characterized by ptosis, external ophthalmoplegia, facial, pharyngeal and distal
+ limb weakness and classically with rimmed vacuoles and intranuclear inclusions on
+ muscle biopsy. Heterozygous CCG-CGG repeat expansions in the 5' UTR of six genes
+ are known to cause OPDM, only one of which ( ABCD3 ) has been reported in
+ individuals of European ancestry. Here, we identify heterozygous CCG expansions
+ in TBC1D7 , ranging from 87-134 repeats, in three unrelated families of European
+ and mixed African European descent, establishing TBC1D7 as a new OPDM gene. Using
+ integrated long-read and short-read sequencing technologies and large population
+ datasets, we define the structure of the TBC1D7 tandem repeat and show that this
+ locus is strikingly variable in the control population - a recently recognized
+ hallmark of pathogenic repeat loci. We furthermore investigate epigenetic
+ regulation and repeat length variability at the repeat locus, demonstrating CCG
+ repeat methylation as plausible mechanism for the observed non-penetrance in one
+ unapected individual carrying a large repeat expansion, while in apected patients
+ the repeat is unmethylated. Patient-derived fibroblasts show increased TBC1D7
+ expression, and p62-positive intranuclear inclusions are observed on muscle
+ biopsy, supporting a dominant toxic gain-of-function mechanism analogous to other
+ CCG-expansion disorders. This study expands the known genetic architecture of
+ OPDM and distal myopathies in general and reinforces the emerging paradigm in
+ which the sequence motif and genomic context of repeat expansions, rather than
+ gene function alone, are key drivers of disease. The identification of TBC1D7 as
+ a repeat-expansion myopathy gene further highlights the need for systematic
+ interrogation of noncoding repeat loci in unresolved neuromuscular disease
+ cohorts.
+FAU - Van de Vondel, Liedewei
+AU - Van de Vondel L
+AUID- ORCID: 0000-0003-2214-5908
+FAU - Curro, Riccardo
+AU - Curro R
+FAU - Facchini, Stefano
+AU - Facchini S
+FAU - Xu, Isaac R L
+AU - Xu IRL
+FAU - De Winter, Jonathan
+AU - De Winter J
+AUID- ORCID: 0000-0002-0166-6758
+FAU - Quartesan, Ilaria
+AU - Quartesan I
+FAU - Monticelli, Alice
+AU - Monticelli A
+FAU - Alonso-Jimenez, Alicia
+AU - Alonso-Jimenez A
+FAU - De Ridder, Willem
+AU - De Ridder W
+FAU - Bertini, Alessandro
+AU - Bertini A
+FAU - Alves, Gustavo
+AU - Alves G
+FAU - Pizzuto, Francesca
+AU - Pizzuto F
+FAU - Ugolini, Hermione
+AU - Ugolini H
+FAU - Pellerin, David
+AU - Pellerin D
+FAU - De Pooter, Tim
+AU - De Pooter T
+FAU - Merve, Ashirwad
+AU - Merve A
+FAU - Machado, Pedro
+AU - Machado P
+CN - OPDM study group
+FAU - Sagath, Lydia
+AU - Sagath L
+AUID- ORCID: 0000-0002-6754-3830
+FAU - Neveling, Kornelia
+AU - Neveling K
+FAU - Hoischen, Alexander
+AU - Hoischen A
+FAU - Hanna, Michael G
+AU - Hanna MG
+FAU - Pitceathly, Robert D S
+AU - Pitceathly RDS
+AUID- ORCID: 0000-0002-6123-4551
+FAU - Houlden, Henry
+AU - Houlden H
+AUID- ORCID: 0000-0002-2866-7777
+FAU - Tucci, Arianna
+AU - Tucci A
+FAU - Bugiardini, Enrico
+AU - Bugiardini E
+FAU - Brady, Stefen
+AU - Brady S
+FAU - Roberts, Mark
+AU - Roberts M
+FAU - Danzi, Matt C
+AU - Danzi MC
+FAU - Zuchner, Stephan
+AU - Zuchner S
+FAU - Baets, Jonathan
+AU - Baets J
+FAU - Cortese, Andrea
+AU - Cortese A
+LA - eng
+PT - Journal Article
+PT - Preprint
+DEP - 20260401
+PL - United States
+TA - medRxiv
+JT - medRxiv : the preprint server for health sciences
+JID - 101767986
+PMC - PMC13060415
+EDAT- 2026/04/10 06:33
+MHDA- 2026/04/10 06:34
+PMCR- 2026/04/08
+CRDT- 2026/04/10 05:37
+PHST- 2026/04/10 06:34 [medline]
+PHST- 2026/04/10 06:33 [pubmed]
+PHST- 2026/04/10 05:37 [entrez]
+PHST- 2026/04/08 00:00 [pmc-release]
+AID - 2026.03.27.26349107 [pii]
+AID - 10.64898/2026.03.27.26349107 [doi]
+PST - epublish
+SO - medRxiv [Preprint]. 2026 Apr 1:2026.03.27.26349107. doi:
+ 10.64898/2026.03.27.26349107.
+
diff --git a/data/literature/TBP_batch_01.txt b/data/literature/TBP_batch_01.txt
index b2b36eb2..fc1c6ad5 100644
--- a/data/literature/TBP_batch_01.txt
+++ b/data/literature/TBP_batch_01.txt
@@ -1,4 +1,159 @@
+PMID- 42196324
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260527
+LR - 20260529
+IS - 1422-0067 (Electronic)
+IS - 1422-0067 (Linking)
+VI - 27
+IP - 10
+DP - 2026 May 13
+TI - Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant
+ Expansions in a Large Turkish Neurodegeneration Disease Cohort.
+LID - 10.3390/ijms27104345 [doi]
+LID - 4345
+AB - Short tandem repeat (STR) expansions are a major cause of neurodegenerative
+ disorders; however, their genetic and clinical heterogeneity complicates
+ diagnosis. STR detection remains limited in routine short-read next-generation
+ sequencing (NGS) workflows. We evaluated the diagnostic yield and clinical
+ utility of computational STR genotyping in a large Turkish neurodegenerative
+ disease cohort. ExpansionHunter was applied to NGS data from 3150 patients and
+ 146 controls, targeting 15 disease-associated STR loci. To improve genotyping of
+ poorly captured exonic regions in exome data, the default locus coverage
+ threshold was reduced from 10x to 3x. Candidate expansions were visually
+ inspected using REViewer and validated by conventional molecular methods.
+ Computational analysis detected 28 pathogenic and 160 intermediate expansions. Of
+ these, 23 were confirmed as pathogenic, and eight initially classified as
+ intermediate were reclassified as pathogenic after conventional validation,
+ resulting in 31 pathogenic cases across 28 families: HTT (n = 8), ATXN2 (n = 5),
+ ATXN1 (n = 4), DMPK (n = 3), PABPN1 (n = 3), TBP (n = 2), and single cases in AR,
+ ATN1, and CACNA1A. Lowering the coverage threshold markedly increased genotyping
+ rates at low-coverage loci in exome data, particularly in ATXN2. Genetic findings
+ were largely consistent with clinical pre-diagnosis and the additional diagnostic
+ yield was 0.95%. These findings support integrating STR analysis into routine
+ neurogenetic diagnostics.
+FAU - Khojakulov, Zakhiriddin
+AU - Khojakulov Z
+AUID- ORCID: 0000-0002-7771-8956
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Palvadeau, Robin J
+AU - Palvadeau RJ
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Kovancilar-Koc, Muge
+AU - Kovancilar-Koc M
+AUID- ORCID: 0009-0006-7125-1159
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Atay, Irmak
+AU - Atay I
+AUID- ORCID: 0009-0007-3284-7790
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Sahbaz, Irmak
+AU - Sahbaz I
+AUID- ORCID: 0000-0001-8816-9158
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Tekgul, Seyma
+AU - Tekgul S
+AUID- ORCID: 0000-0001-5223-5627
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Sahin, Ayca
+AU - Sahin A
+AUID- ORCID: 0000-0002-0948-6495
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Badakal, Esmer Zeynep Duru
+AU - Badakal EZD
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Gul-Demirkale, Tugce
+AU - Gul-Demirkale T
+AUID- ORCID: 0000-0002-1818-9839
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Ciftci, Vildan
+AU - Ciftci V
+AUID- ORCID: 0000-0002-4441-6062
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Bayraktar, Elif
+AU - Bayraktar E
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Tunca, Ceren
+AU - Tunca C
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Smolina, Natalia
+AU - Smolina N
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+FAU - Akcimen, Fulya
+AU - Akcimen F
+AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
+ Health, Bethesda, MD 20892, USA.
+FAU - Basak, Ayse Nazli
+AU - Basak AN
+AUID- ORCID: 0000-0001-6977-2517
+AD - Neurodegeneration Research Laboratory (NDAL), Research Center for Translational
+ Medicine (KUTTAM), School of Medicine, Koc University, 34010 Istanbul, Turkey.
+LA - eng
+GR - Suna and Inan Kirac Foundation/Suna and Inan Kirac Foundation/
+GR - Koc university/Koc University/
+PT - Journal Article
+DEP - 20260513
+PL - Switzerland
+TA - Int J Mol Sci
+JT - International journal of molecular sciences
+JID - 101092791
+SB - IM
+MH - Humans
+MH - *Microsatellite Repeats/genetics
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Turkey/epidemiology
+MH - High-Throughput Nucleotide Sequencing
+MH - Genotype
+MH - Female
+MH - *Genotyping Techniques/methods
+MH - Male
+MH - Cohort Studies
+MH - *DNA Repeat Expansion
+MH - Computational Biology/methods
+PMC - PMC13207311
+OTO - NOTNLM
+OT - ExpansionHunter
+OT - NGS
+OT - STR
+OT - computational genotyping
+OT - neurodegenerative diseases
+OT - short tandem repeats
+COIS- The authors declare no conflicts of interest. The contributions of the NIH
+ author(s) are considered Works of the United States Government. The findings and
+ conclusions presented in this paper are those of the author(s) and do not
+ necessarily reflect the views of the NIH or the U.S. Department of Health and
+ Human Services.
+EDAT- 2026/05/27 06:33
+MHDA- 2026/05/27 06:34
+PMCR- 2026/05/13
+CRDT- 2026/05/27 01:16
+PHST- 2026/03/05 00:00 [received]
+PHST- 2026/04/04 00:00 [revised]
+PHST- 2026/04/09 00:00 [accepted]
+PHST- 2026/05/27 06:34 [medline]
+PHST- 2026/05/27 06:33 [pubmed]
+PHST- 2026/05/27 01:16 [entrez]
+PHST- 2026/05/13 00:00 [pmc-release]
+AID - ijms27104345 [pii]
+AID - ijms-27-04345 [pii]
+AID - 10.3390/ijms27104345 [doi]
+PST - epublish
+SO - Int J Mol Sci. 2026 May 13;27(10):4345. doi: 10.3390/ijms27104345.
+
PMID- 42038259
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -2876,19 +3031,20 @@ SO - Neurodegener Dis. 2022;22(1):34-42. doi: 10.1159/000526260. Epub 2022 Aug
PMID- 35868859
OWN - NLM
-STAT- Publisher
-LR - 20240216
+STAT- MEDLINE
+DCOM- 20260512
+LR - 20260512
IS - 2373-2822 (Electronic)
IS - 2373-2822 (Linking)
VI - 9
IP - 4
-DP - 2022 Jul 21
-TI - Variation in TAF1 expression in female carrier induced pluripotent stem cells and
- human brain ontogeny has implications for adult neostriatum vulnerability in
- X-linked Dystonia Parkinsonism.
+DP - 2022 Jul-Aug
+TI - Variation in TAF1 Expression in Female Carrier-Induced Pluripotent Stem Cells and
+ Human Brain Ontogeny Has Implications for Adult Neostriatum Vulnerability in
+ X-Linked Dystonia Parkinsonism.
LID - ENEURO.0129-22.2022 [pii]
LID - 10.1523/ENEURO.0129-22.2022 [doi]
-AB - X-linked Dystonia-Parkinsonism (XDP) is an inherited, X-linked, adult-onset
+AB - X-linked dystonia-parkinsonism (XDP) is an inherited, X-linked, adult-onset
movement disorder characterized by degeneration in the neostriatum. No
therapeutics alter disease progression. The mechanisms underlying regional
differences in degeneration and adult onset are unknown. Developing therapeutics
@@ -2899,155 +3055,162 @@ AB - X-linked Dystonia-Parkinsonism (XDP) is an inherited, X-linked, adult-onse
all XDP males are usually clinically affected, females are heterozygous carriers
generally not manifesting the full syndrome. As a resource for disease modeling,
we characterized eight iPSC lines from three XDP female carrier individuals for X
- chromosome inactivation status and identified clonal lines that express either
- the wild-type X or XDP haplotype. Furthermore, we characterized XDP-relevant
- transcript expression in neurotypical humans, and found that SVA-F expression
- decreases after 30 years of age in the brain and that TAF1 is decreased in most
- female samples. Uniquely in the caudate nucleus, TAF1 expression is not sexually
- dimorphic and decreased after adolescence. These findings indicate that
- regional-, age- and sex-specific mechanisms regulate TAF1, highlighting the
- importance of disease-relevant models and postmortem tissue. We propose that the
- decreased TAF1 expression in the adult caudate may synergize with the
- XDP-specific partial loss of TAF1 function in patients, thereby passing a minimum
- threshold of TAF1 function, and triggering degeneration in the
- neostriatum.Significance StatementXDP is an inherited, X-linked, adult-onset
- movement disorder characterized by degeneration in the neostriatum. No
- therapeutics alter disease progression. Developing therapeutics requires a deeper
- understanding of how XDP-relevant features vary in health and disease. XDP is
- possibly due to a partial loss of TAF1 function. While all XDP males are usually
- affected, females are heterozygous carriers generally not manifesting the full
- syndrome. As a resource for disease modeling, we characterized eight stem cell
- lines from XDP female carrier individuals. Furthermore, we found that, uniquely
- in the caudate nucleus, TAF1 expression decreases after adolescence in healthy
- humans. We hypothesize that the decrease of TAF1 after adolescence in human
- caudate, in general, may underlie the vulnerability of the adult neostriatum in
- XDP.
+ chromosome inactivation (XCI) status and identified clonal lines that express
+ either the wild-type X or XDP haplotype. Furthermore, we characterized
+ XDP-relevant transcript expression in neurotypical humans, and found that SVA-F
+ expression decreases after 30 years of age in the brain and that TAF1 is
+ decreased in most female samples. Uniquely in the caudate nucleus, TAF1
+ expression is not sexually dimorphic and decreased after adolescence. These
+ findings indicate that regional-specific, age-specific, and sex-specific
+ mechanisms regulate TAF1, highlighting the importance of disease-relevant models
+ and postmortem tissue. We propose that the decreased TAF1 expression in the adult
+ caudate may synergize with the XDP-specific partial loss of TAF1 function in
+ patients, thereby passing a minimum threshold of TAF1 function, and triggering
+ degeneration in the neostriatum.
CI - Copyright (c) 2022 D'Ignazio et al.
FAU - D'Ignazio, Laura
AU - D'Ignazio L
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
FAU - Jacomini, Ricardo S
AU - Jacomini RS
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
FAU - Qamar, Bareera
AU - Qamar B
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
FAU - Benjamin, Kynon J M
AU - Benjamin KJM
AUID- ORCID: 0000-0003-2016-4646
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
AD - Department of Psychiatry & Behavioral Sciences, School of Medicine, Johns Hopkins
- University, Baltimore, MD 21205, USA.
+ University, Baltimore, MD 21205.
FAU - Arora, Ria
AU - Arora R
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Biology, Krieger School of Arts & Sciences, Johns Hopkins
- University, Baltimore, MD 21218, USA.
+ University, Baltimore, MD 21218.
FAU - Sawada, Tomoyo
AU - Sawada T
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
FAU - Evans, Taylor A
AU - Evans TA
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
FAU - Diffenderfer, Kenneth E
AU - Diffenderfer KE
-AD - Stem Cell Core, Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
+AD - Stem Cell Core, Salk Institute for Biological Studies, La Jolla, CA 92037.
FAU - Pankonin, Aimee R
AU - Pankonin AR
-AD - Stem Cell Core, Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
+AD - Stem Cell Core, Salk Institute for Biological Studies, La Jolla, CA 92037.
FAU - Hendriks, William T
AU - Hendriks WT
-AD - Department of Neurology, Massachusetts General Hospital and Harvard Medical
- School, Boston, MA 02114, USA.
+AD - Department of Neurology, Massachusetts General Hospital, Harvard Medical School,
+ Boston, MA 02114.
AD - The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts
- General Hospital, Charlestown, MA 02129, USA.
+ General Hospital, Charlestown, MA 02129.
FAU - Hyde, Thomas M
AU - Hyde TM
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Psychiatry & Behavioral Sciences, School of Medicine, Johns Hopkins
- University, Baltimore, MD 21205, USA.
+ University, Baltimore, MD 21205.
FAU - Kleinman, Joel E
AU - Kleinman JE
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Psychiatry & Behavioral Sciences, School of Medicine, Johns Hopkins
- University, Baltimore, MD 21205, USA.
+ University, Baltimore, MD 21205.
FAU - Weinberger, Daniel R
AU - Weinberger DR
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
AD - Department of Psychiatry & Behavioral Sciences, School of Medicine, Johns Hopkins
- University, Baltimore, MD 21205, USA.
+ University, Baltimore, MD 21205.
AD - Department of Neuroscience, School of Medicine, Johns Hopkins University,
- Baltimore, MD 21205, USA.
+ Baltimore, MD 21205.
AD - McKusick-Nathans Department of Genetic Medicine, School of Medicine, Johns
- Hopkins University Baltimore, MD 21205, USA.
+ Hopkins University, Baltimore, MD 21205.
FAU - Bragg, D Cristopher
AU - Bragg DC
-AD - Department of Neurology, Massachusetts General Hospital and Harvard Medical
- School, Boston, MA 02114, USA.
+AD - Department of Neurology, Massachusetts General Hospital, Harvard Medical School,
+ Boston, MA 02114.
AD - The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts
- General Hospital, Charlestown, MA 02129, USA.
+ General Hospital, Charlestown, MA 02129.
FAU - Paquola, Apua C M
AU - Paquola ACM
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
FAU - Erwin, Jennifer A
AU - Erwin JA
AUID- ORCID: 0000-0002-6784-9290
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205
jennifer.erwin@libd.org.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
AD - Department of Psychiatry & Behavioral Sciences, School of Medicine, Johns Hopkins
- University, Baltimore, MD 21205, USA.
+ University, Baltimore, MD 21205.
AD - Department of Neuroscience, School of Medicine, Johns Hopkins University,
- Baltimore, MD 21205, USA.
+ Baltimore, MD 21205.
LA - eng
GR - T32 MH015330/MH/NIMH NIH HHS/United States
PT - Journal Article
-DEP - 20220721
+DEP - 20220830
PL - United States
TA - eNeuro
JT - eNeuro
JID - 101647362
+RN - 0 (Transcription Factor TFIID)
+RN - 0 (TATA-Binding Protein Associated Factors)
+RN - EC 2.7.11.1 (TATA-binding protein associated factor 250 kDa)
+RN - EC 2.3.1.48 (Histone Acetyltransferases)
+RN - Dystonia 3, Torsion, X-Linked
SB - IM
+MH - Humans
+MH - *Transcription Factor TFIID/metabolism/genetics
+MH - *TATA-Binding Protein Associated Factors/metabolism/genetics
+MH - Female
+MH - *Genetic Diseases, X-Linked/metabolism/genetics/pathology
+MH - *Dystonic Disorders/genetics/metabolism/pathology
+MH - *Induced Pluripotent Stem Cells/metabolism
+MH - *Histone Acetyltransferases/metabolism/genetics
+MH - Adult
+MH - Male
+MH - Heterozygote
+MH - *Brain/metabolism/growth & development
+MH - X Chromosome Inactivation
PMC - PMC9428949
OTO - NOTNLM
OT - SVA retrotransposon
-OT - X-linked Dystonia Parkinsonism
+OT - X-linked dystonia parkinsonism
OT - induced pluripotent stem cells
OT - movement disorder
OT - neurodegeneration
OT - repeat expansion
-COIS- Authors report no conflict of interest
EDAT- 2022/07/23 06:00
-MHDA- 2022/07/23 06:00
+MHDA- 2026/05/12 06:36
PMCR- 2022/08/17
CRDT- 2022/07/22 21:41
PHST- 2022/03/24 00:00 [received]
PHST- 2022/06/14 00:00 [revised]
PHST- 2022/07/03 00:00 [accepted]
-PHST- 2022/07/22 21:41 [entrez]
+PHST- 2026/05/12 06:36 [medline]
PHST- 2022/07/23 06:00 [pubmed]
-PHST- 2022/07/23 06:00 [medline]
+PHST- 2022/07/22 21:41 [entrez]
PHST- 2022/08/17 00:00 [pmc-release]
AID - ENEURO.0129-22.2022 [pii]
AID - eN-NWR-0129-22 [pii]
AID - 10.1523/ENEURO.0129-22.2022 [doi]
-PST - aheadofprint
-SO - eNeuro. 2022 Jul 21;9(4):ENEURO.0129-22.2022. doi: 10.1523/ENEURO.0129-22.2022.
+PST - epublish
+SO - eNeuro. 2022 Aug 30;9(4):ENEURO.0129-22.2022. doi: 10.1523/ENEURO.0129-22.2022.
+ Print 2022 Jul-Aug.
PMID- 35493319
OWN - NLM
@@ -3385,7 +3548,7 @@ PMID- 35182509
OWN - NLM
STAT- MEDLINE
DCOM- 20220321
-LR - 20260127
+LR - 20260518
IS - 1474-4465 (Electronic)
IS - 1474-4422 (Print)
IS - 1474-4422 (Linking)
@@ -8773,7 +8936,7 @@ PMID- 24972706
OWN - NLM
STAT- MEDLINE
DCOM- 20141106
-LR - 20250529
+LR - 20260518
IS - 1460-2156 (Electronic)
IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
diff --git a/data/literature/TBX1_batch_01.txt b/data/literature/TBX1_batch_01.txt
index 16f310f1..79558193 100644
--- a/data/literature/TBX1_batch_01.txt
+++ b/data/literature/TBX1_batch_01.txt
@@ -2,7 +2,7 @@
PMID- 41607489
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20260131
+LR - 20260516
IS - 3065-8993 (Electronic)
IS - 3065-8993 (Linking)
VI - 1
@@ -107,6 +107,7 @@ AD - Department of Pediatrics, The University of Texas Southwestern Medical Cen
AD - Department of Microbiology at The University of Texas Southwestern Medical
Center, Dallas, TX, USA. ROR: https://ror.org/05byvp690
LA - eng
+GR - R01 AI114523/AI/NIAID NIH HHS/United States
PT - Journal Article
DEP - 20250812
PL - United States
diff --git a/data/literature/TCF4_batch_01.txt b/data/literature/TCF4_batch_01.txt
index 63d4c067..772cbf76 100644
--- a/data/literature/TCF4_batch_01.txt
+++ b/data/literature/TCF4_batch_01.txt
@@ -1,4 +1,154 @@
+PMID- 42180433
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260525
+LR - 20260525
+IS - 1090-0535 (Electronic)
+IS - 1090-0535 (Linking)
+VI - 31
+DP - 2025
+TI - Targeted sequencing with single-molecule molecular inversion probes highlights a
+ gap in understanding the cause of Fuchs endothelial corneal dystrophy.
+PG - 486-500
+AB - PURPOSE: A trinucleotide repeat expansion in TCF4 is thought to cause Fuchs
+ endothelial corneal dystrophy (FECD) in ~70% of European patients. In addition,
+ strong evidence exists for the involvement of rare variants in COL8A2 and SLC4A11
+ in a small number of FECD cases, and more controversially, it has been suggested
+ that variants in ZEB1, AGBL1, and LOXHD1 may also be involved. We screened
+ patients without a TCF4 repeat expansion for causative variants in the other
+ candidate FECD genes. METHODS: Genomic DNA from blood was genotyped for expansion
+ of the CTG18.1 repeat in intron 2 of TCF4 using short-tandem repeat PCR, followed
+ by triplet-repeat primed PCR (STR/TP-PCR). Single-molecule molecular inversion
+ probes (smMIPs) were designed to amplify the coding exons and splice recognition
+ sites of FECD candidate genes COL8A2, SLC4A11, ZEB1, AGBL1, and LOXHD1 using
+ MIPGEN, and the libraries generated were sequenced on a NextSeq 2000.
+ FASTQ-formatted sequence reads were aligned to the human reference genome with
+ MIPVAR, and identified variants were annotated using Annovar. Rare potentially
+ pathogenic variants (minor allele frequency /=15) were confirmed by
+ Sanger sequencing and interpreted according to American College of Medical
+ Genetics and Genomics criteria using the Franklin by Genoox interface. RESULTS:
+ Analysis of 114 FECD cases by STR/TP-PCR stratified the patients into FECD
+ expansion-negative cases that had <50 trinucleotide repeats on both alleles at
+ the CTG18.1 locus (n = 33 probands and three additional family members) and FECD
+ expansion-positive (n = 78) cases with at least one allele harboring >/=50 repeats
+ in size. All 36 expansion negative cases were then analyzed by smMIP targeted
+ capture and short-read sequencing of the five other genes implicated in FECD
+ causation. For comparison, two control groups were similarly analyzed: a subset
+ of 29 of the expansion-positive cases whose FECD was assumed to be caused by the
+ repeat expansion and 29 expansion-negative unaffected individuals. Across all
+ groups, 13 variants passed filtration criteria: 1 in COL8A2, 2 in SLC4A11, 4 in
+ AGBL1, and 6 in LOXHD1. No variants were identified in ZEB1. Eight of the
+ variants identified were found in seven FECD expansion-negative cases, five in
+ four FECD expansion-positive cases, and three in two non-FECD controls, with
+ three variants appearing in both expansion-positive and expansion-negative
+ patient groups. Statistical analysis indicated no significant enrichment of
+ variants in expansion-negative cases compared to the other two groups (p = 0.7612
+ and 0.3275). Only one variant (LOXHD1 NM_144612.7, c.5545G>A, p.(Gly1849Arg)),
+ found in an expansion-negative case, was classified as likely pathogenic, while
+ others were classed as variant of unknown significance (n = 4), likely benign (n
+ = 4), or benign (n = 4). CONCLUSIONS: smMIPs were used for targeted screening of
+ candidate genes implicated in FECD and proved a versatile, economic approach for
+ prescreening before whole-exome or genome sequencing. This study confirmed the
+ well-documented enrichment of the TCF4 repeat expansion in cases over controls
+ but found a paucity of evidence for the involvement of variants in COL8A2,
+ SLC4A11, ZEB1, AGBL1, or LOXHD1 in this set of expansion-negative cases, implying
+ knowledge of the causes of FECD remains incomplete.
+CI - Copyright (c) 2025 Molecular Vision.
+FAU - Alayed, Bushra
+AU - Alayed B
+AD - Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's
+ University Hospital, University of Leeds, Leeds, UK.
+AD - Department of Medical Laboratories, College of Applied Medical Sciences, Qassim
+ University, Buraydah, Saudi Arabia.
+FAU - Albuainain, Danah
+AU - Albuainain D
+AD - Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's
+ University Hospital, University of Leeds, Leeds, UK.
+AD - Department of Anatomy, College of Medicine, Imam Abdulrahman Bin Faisal
+ University, Dammam, Saudi Arabia.
+FAU - Siddiqui, Salina
+AU - Siddiqui S
+AD - Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's
+ University Hospital, University of Leeds, Leeds, UK.
+AD - The Eye Department, St. James's University Hospital, Leeds, UK.
+FAU - Li, Weijia
+AU - Li W
+AD - Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's
+ University Hospital, University of Leeds, Leeds, UK.
+FAU - Hany, Ummey
+AU - Hany U
+AD - Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's
+ University Hospital, University of Leeds, Leeds, UK.
+FAU - Anand, Seema
+AU - Anand S
+AD - The Eye Department, St. James's University Hospital, Leeds, UK.
+FAU - Inglehearn, Chris F
+AU - Inglehearn CF
+AD - Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's
+ University Hospital, University of Leeds, Leeds, UK.
+FAU - Watson, Christopher M
+AU - Watson CM
+AD - Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's
+ University Hospital, University of Leeds, Leeds, UK.
+AD - North East and Yorkshire Genomic Laboratory Hub, Central Lab, St James's
+ University Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
+FAU - Ali, Manir
+AU - Ali M
+AD - Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's
+ University Hospital, University of Leeds, Leeds, UK.
+LA - eng
+PT - Journal Article
+DEP - 20251201
+PL - United States
+TA - Mol Vis
+JT - Molecular vision
+JID - 9605351
+RN - 0 (Collagen Type VIII)
+RN - 0 (Transcription Factor 4)
+RN - 0 (SLC4A11 protein, human)
+RN - 0 (TCF4 protein, human)
+RN - 0 (COL8A2 protein, human)
+RN - 0 (Zinc Finger E-box-Binding Homeobox 1)
+RN - 0 (ZEB1 protein, human)
+RN - 0 (Anion Transport Proteins)
+RN - 0 (Antiporters)
+RN - 0 (LOXHD1 protein, human)
+RN - 0 (Receptors, Cell Surface)
+RN - 0 (Carrier Proteins)
+SB - IM
+MH - Humans
+MH - *Fuchs' Endothelial Dystrophy/genetics
+MH - Collagen Type VIII/genetics
+MH - Transcription Factor 4/genetics
+MH - Zinc Finger E-box-Binding Homeobox 1/genetics
+MH - Anion Transport Proteins/genetics
+MH - Male
+MH - Antiporters/genetics
+MH - Female
+MH - Trinucleotide Repeat Expansion/genetics
+MH - Receptors, Cell Surface/genetics
+MH - Middle Aged
+MH - Aged
+MH - Introns
+MH - Genotype
+MH - Carrier Proteins
+PMC - PMC13193275
+EDAT- 2026/05/25 12:35
+MHDA- 2026/05/25 12:36
+PMCR- 2025/12/01
+CRDT- 2026/05/25 07:53
+PHST- 2025/05/24 00:00 [received]
+PHST- 2025/11/28 00:00 [accepted]
+PHST- 2026/05/25 12:36 [medline]
+PHST- 2026/05/25 12:35 [pubmed]
+PHST- 2026/05/25 07:53 [entrez]
+PHST- 2025/12/01 00:00 [pmc-release]
+AID - 39 [pii]
+PST - epublish
+SO - Mol Vis. 2025 Dec 1;31:486-500. eCollection 2025.
+
PMID- 42010886
OWN - NLM
STAT- Publisher
@@ -217,7 +367,7 @@ SO - J Pathol. 2026 Apr 7. doi: 10.1002/path.70057.
PMID- 41944537
OWN - NLM
STAT- Publisher
-LR - 20260407
+LR - 20260512
IS - 1096-9896 (Electronic)
IS - 0022-3417 (Linking)
DP - 2026 Apr 7
@@ -246,9 +396,11 @@ AD - Department of Ophthalmology, Ross Eye Institute, Jacobs School of Medicine
AD - Research and Ophthalmology Services, Veterans Administration, Western New York
Healthcare System, Buffalo, NY, USA.
LA - eng
-GR - R01EY034906/EY/NEI NIH HHS/United States
+GR - R01 EY034906/EY/NEI NIH HHS/United States
GR - I01BX006272/U.S. Department of Veterans Affairs/
GR - NH/NIH HHS/United States
+GR - I01 BX006272/BX/BLRD VA/United States
+GR - R01EY034906/EY/NEI NIH HHS/United States
PT - Journal Article
DEP - 20260407
PL - England
@@ -276,14 +428,18 @@ SO - J Pathol. 2026 Apr 7. doi: 10.1002/path.70062.
PMID- 41865104
OWN - NLM
-STAT- Publisher
-LR - 20260322
+STAT- MEDLINE
+DCOM- 20260506
+LR - 20260509
IS - 2045-2322 (Electronic)
IS - 2045-2322 (Linking)
+VI - 16
+IP - 1
DP - 2026 Mar 21
TI - TCF4 trinucleotide repeat expansion drives distinct proteomic signatures in Fuchs
endothelial corneal dystrophy.
LID - 10.1038/s41598-026-43789-x [doi]
+LID - 14446
AB - The aims of this study were to use an isogenic cell model system to investigate
the proteomic consequences of TCF4 trinucleotide repeat expansion in Fuchs
endothelial corneal dystrophy (FECD) and to identify potential molecular pathways
@@ -387,32 +543,52 @@ PL - England
TA - Sci Rep
JT - Scientific reports
JID - 101563288
+RN - 0 (Transcription Factor 4)
+RN - 0 (TCF4 protein, human)
+RN - 0 (Proteome)
SB - IM
+MH - Humans
+MH - *Fuchs' Endothelial Dystrophy/genetics/metabolism/pathology
+MH - *Transcription Factor 4/genetics/metabolism
+MH - *Trinucleotide Repeat Expansion
+MH - Proteomics/methods
+MH - *Proteome/genetics
+MH - Protein Interaction Maps
+MH - CRISPR-Cas Systems
+PMC - PMC13149823
COIS- Competing interests: Naoki Okumura and Noriko Koizumi are co-founders of
ActualEyes Inc., which is developing novel treatments for Fuchs endothelial
corneal dystrophy. All other authors declare no competing financial interests.
EDAT- 2026/03/22 07:35
-MHDA- 2026/03/22 07:35
+MHDA- 2026/05/07 00:33
+PMCR- 2026/03/21
CRDT- 2026/03/22 00:20
PHST- 2025/03/26 00:00 [received]
PHST- 2026/03/06 00:00 [accepted]
-PHST- 2026/03/22 07:35 [medline]
+PHST- 2026/05/07 00:33 [medline]
PHST- 2026/03/22 07:35 [pubmed]
PHST- 2026/03/22 00:20 [entrez]
+PHST- 2026/03/21 00:00 [pmc-release]
AID - 10.1038/s41598-026-43789-x [pii]
+AID - 43789 [pii]
AID - 10.1038/s41598-026-43789-x [doi]
-PST - aheadofprint
-SO - Sci Rep. 2026 Mar 21. doi: 10.1038/s41598-026-43789-x.
+PST - epublish
+SO - Sci Rep. 2026 Mar 21;16(1):14446. doi: 10.1038/s41598-026-43789-x.
PMID- 41736702
OWN - NLM
-STAT- Publisher
-LR - 20260225
+STAT- MEDLINE
+DCOM- 20260505
+LR - 20260507
IS - 1096-9896 (Electronic)
+IS - 0022-3417 (Print)
IS - 0022-3417 (Linking)
-DP - 2026 Feb 25
+VI - 269
+IP - 2
+DP - 2026 Jun
TI - Pathological classification of Fuchs endothelial corneal dystrophy into several
types and their relationships with CTG18.1 expansion repeats.
+PG - 182-196
LID - 10.1002/path.70044 [doi]
AB - Late-onset Fuchs endothelial corneal dystrophy (FECD) is the most common primary
disease of the corneal endothelium and the leading indication for corneal
@@ -522,12 +698,31 @@ AD - Ophthalmology Department, University Hospital, Saint-Etienne, France.
CN - French Fuchs Study Group (FFSG)
LA - eng
PT - Journal Article
+PT - Multicenter Study
DEP - 20260225
PL - England
TA - J Pathol
JT - The Journal of pathology
JID - 0204634
+RN - 0 (Transcription Factor 4)
+RN - 0 (TCF4 protein, human)
+RN - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors)
SB - IM
+MH - Humans
+MH - *Fuchs' Endothelial Dystrophy/genetics/pathology/classification/surgery
+MH - Transcription Factor 4/genetics
+MH - *Trinucleotide Repeat Expansion
+MH - Male
+MH - Aged
+MH - Female
+MH - Middle Aged
+MH - Aged, 80 and over
+MH - Descemet Membrane/pathology
+MH - *Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics
+MH - Genetic Predisposition to Disease
+MH - Phenotype
+MH - Endothelium, Corneal/pathology
+PMC - PMC13140138
OTO - NOTNLM
OT - CTG18.1 trinucleotide repeat expansion
OT - Descemet's membrane
@@ -599,17 +794,20 @@ IR - Touboul D
FIR - Vabres, Bertrand
IR - Vabres B
EDAT- 2026/02/25 10:22
-MHDA- 2026/02/25 10:22
+MHDA- 2026/05/05 12:37
+PMCR- 2026/05/05
CRDT- 2026/02/25 04:42
PHST- 2025/11/24 00:00 [revised]
PHST- 2025/07/02 00:00 [received]
PHST- 2026/01/22 00:00 [accepted]
-PHST- 2026/02/25 10:22 [medline]
+PHST- 2026/05/05 12:37 [medline]
PHST- 2026/02/25 10:22 [pubmed]
PHST- 2026/02/25 04:42 [entrez]
+PHST- 2026/05/05 00:00 [pmc-release]
+AID - PATH70044 [pii]
AID - 10.1002/path.70044 [doi]
-PST - aheadofprint
-SO - J Pathol. 2026 Feb 25. doi: 10.1002/path.70044.
+PST - ppublish
+SO - J Pathol. 2026 Jun;269(2):182-196. doi: 10.1002/path.70044. Epub 2026 Feb 25.
PMID- 41713739
OWN - NLM
@@ -924,9 +1122,8 @@ SO - Med Sci (Basel). 2026 Jan 7;14(1):31. doi: 10.3390/medsci14010031.
PMID- 41533935
OWN - NLM
-STAT- MEDLINE
-DCOM- 20260114
-LR - 20260118
+STAT- In-Process
+LR - 20260601
IS - 1552-5783 (Electronic)
IS - 0146-0404 (Print)
IS - 0146-0404 (Linking)
@@ -5091,7 +5288,7 @@ PMID- 36250467
OWN - NLM
STAT- MEDLINE
DCOM- 20221018
-LR - 20230324
+LR - 20260505
IS - 1558-8238 (Electronic)
IS - 0021-9738 (Print)
IS - 0021-9738 (Linking)
@@ -5140,9 +5337,7 @@ FAU - Hafler, David A
AU - Hafler DA
LA - eng
GR - R25 NS079193/NS/NINDS NIH HHS/United States
-GR - UL1 TR001863/TR/NCATS NIH HHS/United States
GR - UM1 HG009390/HG/NHGRI NIH HHS/United States
-GR - K23 NS107624/NS/NINDS NIH HHS/United States
GR - KL2 TR001862/TR/NCATS NIH HHS/United States
GR - P01 AI039671/AI/NIAID NIH HHS/United States
GR - U19 AI089992/AI/NIAID NIH HHS/United States
diff --git a/data/literature/TYMS_batch_01.txt b/data/literature/TYMS_batch_01.txt
index e9eb820e..57e5c813 100644
--- a/data/literature/TYMS_batch_01.txt
+++ b/data/literature/TYMS_batch_01.txt
@@ -1,4 +1,356 @@
+PMID- 42083296
+OWN - NLM
+STAT- Publisher
+LR - 20260505
+IS - 2666-2477 (Electronic)
+IS - 2666-2477 (Linking)
+DP - 2026 May 4
+TI - Genome Sequencing for the Diagnosis of Rare Disorders: The Brazilian Rare Genomes
+ Project.
+PG - 100624
+LID - S2666-2477(26)00064-3 [pii]
+LID - 10.1016/j.xhgg.2026.100624 [doi]
+AB - Genome Sequencing (GS) has emerged as a transformative tool in the diagnosis of
+ rare diseases with complex phenotypes. This technology uncovers structural,
+ intronic, non-coding, and mitochondrial variants that traditional methods might
+ miss, thus facilitating the understanding of the underlying genomic basis of
+ human disorders. We enrolled 10305 patients with suspected rare diseases or
+ hereditary cancer risk syndromes from 21 centers throughout Brazil. Their genomes
+ were sequenced with short, paired-end reads, and diagnostic reports were provided
+ for 9448 of these patients. The overall diagnostic yield was 35.6%, and 4.6% of
+ all positive reports had GS-exclusive findings (e.g. short copy number variants
+ overlapping fewer than three exons, deep intronic variants, short tandem repeats
+ expansions, mitochondrial structural variants - usually not detected by other
+ diagnostic tests such as exome sequencing). Preliminary analysis of transcriptome
+ sequencing (TS) or long-read GS combined with the GS interpretation provided a
+ small but welcome improvement in diagnostic yield (0.1% and 1.0% of positive
+ reports, respectively). Almost 3200 variant/phenotype interpretations were
+ submitted to ClinVar. GS is proving to be an invaluable resource for shortening
+ the diagnostic odyssey of patients with rare diseases, providing crucial genomic
+ diagnostics, and enriching genetic databases with variant interpretations from
+ underrepresented populations. Therefore, GS has the potential to significantly
+ enhance the precision of healthcare in genetically diverse populations.
+CI - Copyright (c) 2026 The Author(s). Published by Elsevier Inc. All rights reserved.
+CN - Brazilian Rare Genomes Project Consortium
+FAU - Campos Coelho, Antonio Victor
+AU - Campos Coelho AV
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil. Electronic address: antonio.campos@einstein.br.
+FAU - Sales de Albuquerque, Rafael
+AU - Sales de Albuquerque R
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Gomes, Catarina Dos Santos
+AU - Gomes CDS
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Bandeira do Nascimento Junior, Jose
+AU - Bandeira do Nascimento Junior J
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Santos de Oliveira, Gustavo
+AU - Santos de Oliveira G
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Silva Moura, Livia Maria
+AU - Silva Moura LM
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Mofatto, Luciana Souto
+AU - Mofatto LS
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Muniz Guedes, Rafael Lucas
+AU - Muniz Guedes RL
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Sequeira Barreiro, Rodrigo Araujo
+AU - Sequeira Barreiro RA
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Caraciolo, Marcel Pinheiro
+AU - Caraciolo MP
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Paula de Andrade Oliveira, Ana
+AU - Paula de Andrade Oliveira A
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Barbosa Teixeira, Anne Caroline
+AU - Barbosa Teixeira AC
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Cordeiro de Azevedo, Bruna Mascaro
+AU - Cordeiro de Azevedo BM
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Carlos, Carolina Dias
+AU - Carlos CD
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Santos de Santana, Lucas
+AU - Santos de Santana L
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Cadena da Matta, Marina
+AU - Cadena da Matta M
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Lima, Matheus Martinelli
+AU - Lima MM
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Zurro, Nuria Bengala
+AU - Zurro NB
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Yamada, Renata Yoshiko
+AU - Yamada RY
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Cintra, Vivian Pedigone
+AU - Cintra VP
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Campilongo, Gabriela Pereira
+AU - Campilongo GP
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Cherulli Colichio, Gabriela Borges
+AU - Cherulli Colichio GB
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Ribeiro da Silva, Renata Martins
+AU - Ribeiro da Silva RM
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - D'Angioli Costa Quaio, Caio Robledo
+AU - D'Angioli Costa Quaio CR
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Moreno, Carolina Araujo
+AU - Moreno CA
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Perrone, Eduardo
+AU - Perrone E
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil; Universidade Federal de Sao Paulo, Departamento de Morfologia
+ e Genetica, Rua Botucatu 740, Sao Paulo 04023-000, Brazil.
+FAU - Araujo Espolaor, Jessica Grasiela
+AU - Araujo Espolaor JG
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Marques Prota, Joana Rosa
+AU - Marques Prota JR
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Magliocco Ceroni, Jose Ricardo
+AU - Magliocco Ceroni JR
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Chen, Kelin
+AU - Chen K
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Virmond, Luiza do Amaral
+AU - Virmond LDA
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - de Franca Basto Silva, Marina
+AU - de Franca Basto Silva M
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Migliavacca, Michele Patricia
+AU - Migliavacca MP
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Minillo, Renata Moldenhauer
+AU - Minillo RM
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Tonholo Silva, Thiago Yoshinaga
+AU - Tonholo Silva TY
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - de Oliveira Pelegrino, Karla
+AU - de Oliveira Pelegrino K
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Garcia Cunha, Ana Luiza
+AU - Garcia Cunha AL
+AD - Hospital Infantil Joao Paulo II - FHEMIG, Alameda Ezequiel Dias 345, Belo
+ Horizonte 30130-110, Brazil.
+FAU - de Souza Lima, Joziele
+AU - de Souza Lima J
+AD - Hospital Infantil Joao Paulo II - FHEMIG, Alameda Ezequiel Dias 345, Belo
+ Horizonte 30130-110, Brazil.
+FAU - Grumach, Anete Sevciovic
+AU - Grumach AS
+AD - Centro Universitario Faculdade de Medicina do ABC, Avenida Lauro Gomes 2000,
+ Santo Andre 09060-870, Brazil.
+FAU - Barbosa, Caio Parente
+AU - Barbosa CP
+AD - Centro Universitario Faculdade de Medicina do ABC, Avenida Lauro Gomes 2000,
+ Santo Andre 09060-870, Brazil.
+FAU - Acosta, Angelina Xavier
+AU - Acosta AX
+AD - Hospital Prof. Edgar Santos (Hupes-UFBA), Avenida Augusto Viana Setor Genetica
+ Medica s/n, Salvador 40110-060, Brazil.
+FAU - Correa, Paula Brito
+AU - Correa PB
+AD - Hospital Prof. Edgar Santos (Hupes-UFBA), Avenida Augusto Viana Setor Genetica
+ Medica s/n, Salvador 40110-060, Brazil.
+FAU - Cavalcanti, Denise Pontes
+AU - Cavalcanti DP
+AD - Departamento de Genetica Medica, FCM, Universidade Estadual de Campinas
+ (UNICAMP), Rua Tessalia Vieira de Camargo 126, Campinas 13083-887, Brazil.
+FAU - Steiner, Carlos Eduardo
+AU - Steiner CE
+AD - Departamento de Genetica Medica, FCM, Universidade Estadual de Campinas
+ (UNICAMP), Rua Tessalia Vieira de Camargo 126, Campinas 13083-887, Brazil.
+FAU - Ribeiro, Erlane Marques
+AU - Ribeiro EM
+AD - Hospital Infantil Albert Sabin (HIAS), Rua Tertuliano Sales 544, Fortaleza
+ 60410-794, Brazil.
+FAU - William da Silva Meireles, Wallace
+AU - William da Silva Meireles W
+AD - Hospital Infantil Albert Sabin (HIAS), Rua Tertuliano Sales 544, Fortaleza
+ 60410-794, Brazil.
+FAU - Araujo Felix Adjuto, Giselle Maria
+AU - Araujo Felix Adjuto GM
+AD - Hospital de Apoio de Brasilia (HAB DF), Setor Noroeste AENW Lote A 3, Brasilia
+ 70684-831, Brazil.
+FAU - Doederlein Schwartz, Ida Vanessa
+AU - Doederlein Schwartz IV
+AD - Hospital de Clinicas de Porto Alegre (HCPA), Rua Ramiro Barcelos 2350, Porto
+ Alegre 90035-903, Brazil.
+FAU - Felix, Temis Maria
+AU - Felix TM
+AD - Hospital de Clinicas de Porto Alegre (HCPA), Rua Ramiro Barcelos 2350, Porto
+ Alegre 90035-903, Brazil.
+FAU - Douglas Paes Barreto, Irma Cecilia
+AU - Douglas Paes Barreto IC
+AD - Centro Universitario do Estado do Para (CESUPA), Avenida Governador Jose Malcher
+ 1242, Belem 66060-230, Brazil.
+FAU - Souto El Husny, Antonette
+AU - Souto El Husny A
+AD - Centro Universitario do Estado do Para (CESUPA), Avenida Governador Jose Malcher
+ 1242, Belem 66060-230, Brazil.
+FAU - Melo de Cerqueira Maia, Jussara
+AU - Melo de Cerqueira Maia J
+AD - Hospital Universitario Onofre Lopes, Universidade Federal do Rio Grande do Norte,
+ Departamento de Pediatria (HUOL/UFRN), Avenida Nilo Pecanha 620, Natal 59012-300,
+ Brazil.
+FAU - Dantas, Vera Maria
+AU - Dantas VM
+AD - Hospital Universitario Onofre Lopes, Universidade Federal do Rio Grande do Norte,
+ Departamento de Pediatria (HUOL/UFRN), Avenida Nilo Pecanha 620, Natal 59012-300,
+ Brazil.
+FAU - Helena de Oliveira Cordeiro, Lucia
+AU - Helena de Oliveira Cordeiro L
+AD - Departamento de Medicina Clinica, Universidade Federal de Pernambuco (UFPE),
+ Avenida Professor Moraes Rego 1235, Recife 50670-901, Brazil.
+FAU - Braz, Luiza Zagne
+AU - Braz LZ
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Sales Carneiro Sampaio, Magda Maria
+AU - Sales Carneiro Sampaio MM
+AD - Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo
+ (HCFMUSP), Rua Doutor Ovidio Pires de Campos 225, Sao Paulo 05403-010, Brazil.
+FAU - Schmitz Ferreira Santos, Mara Lucia
+AU - Schmitz Ferreira Santos ML
+AD - Hospital de Criancas Cesar Pernetta e Hospital Pequeno Principe, Rua
+ Desembargador Motta 1070, Curitiba 80250-060, Brazil.
+FAU - Curiati, Marco Antonio
+AU - Curiati MA
+AD - Universidade Federal de Sao Paulo, Centro de Referencia em Erro Inato do
+ metabolismo (CREIM), Rua coronel Lisboa 957, Sao Paulo 04020-040, Brazil.
+FAU - Teresinha de Oliveira Cardoso, Maria
+AU - Teresinha de Oliveira Cardoso M
+AD - Centro de Referencia em Doencas Raras (UGEN HAB/SES-DF), Avenida L2 Sul SGAS
+ Quadra 608 - Modulo A, Brasilia 70203-900, Brazil; Universidade Catolica De
+ Brasilia (UCB), QS 07 Lote 01, Brasilia 71966-700, Brazil.
+FAU - Alves da Silva Rosa, Maria Teresa
+AU - Alves da Silva Rosa MT
+AD - Centro de Referencia em Doencas Raras (UGEN HAB/SES-DF), Avenida L2 Sul SGAS
+ Quadra 608 - Modulo A, Brasilia 70203-900, Brazil; Universidade Catolica De
+ Brasilia (UCB), QS 07 Lote 01, Brasilia 71966-700, Brazil.
+FAU - Leme Ferriani, Mariana Paes
+AU - Leme Ferriani MP
+AD - Hospital das Clinicas da Faculdade de Medicina de Ribeirao Preto (HCFMRP), Rua
+ Tenente Catao Roxo 3900, Ribeirao Preto 14015-010, Brazil.
+FAU - Ramos, Ester Silveira
+AU - Ramos ES
+AD - Hospital das Clinicas da Faculdade de Medicina de Ribeirao Preto (HCFMRP), Rua
+ Tenente Catao Roxo 3900, Ribeirao Preto 14015-010, Brazil.
+FAU - Lyra, Paula Teixeira
+AU - Lyra PT
+AD - Instituto de Medicina Integral Professor Fernando Figueira (IMIP), Rua dos
+ Coelhos 300, Recife 50070-902, Brazil.
+FAU - Boy da Silva, Raquel Tavares
+AU - Boy da Silva RT
+AD - Hospital Universitario Pedro Ernesto - Universidade do Estado do Rio de Janeiro
+ (HUPE/UERJ), Boulevard Vinte e Oito de Setembro 77, Rio de Janeiro 20551-030,
+ Brazil.
+FAU - Ximenes de Mendonca Sobreira, Anna Candida
+AU - Ximenes de Mendonca Sobreira AC
+AD - Hospital Universitario Pedro Ernesto - Universidade do Estado do Rio de Janeiro
+ (HUPE/UERJ), Boulevard Vinte e Oito de Setembro 77, Rio de Janeiro 20551-030,
+ Brazil.
+FAU - Suzana Amorim Boa Sorte, Tatiana Regia
+AU - Suzana Amorim Boa Sorte TR
+AD - Associacao de Pais e Amigos dos Excepcionais - Salvador (APAE Salvador), Rua
+ Espirito Santo 575, Salvador 41830-120, Brazil.
+FAU - Calvao Dumas, Melissa Rossi
+AU - Calvao Dumas MR
+AD - Associacao de Pais e Amigos dos Excepcionais - Salvador (APAE Salvador), Rua
+ Espirito Santo 575, Salvador 41830-120, Brazil.
+FAU - Teixeira, Thais Bomfim
+AU - Teixeira TB
+AD - Associacao de Pais e Amigos dos Excepcionais - Anapolis (APAE Anapolis), Rua
+ Galileu Batista Arantes 350, Anapolis 75075-570, Brazil.
+FAU - Gomes Carneiro, Vandre Cabral
+AU - Gomes Carneiro VC
+AD - Hospital de Cancer de Pernambuco (HCPE), Avenida Cruz Cabuga 1597, Recife
+ 50040-000, Brazil; Instituto de Medicina Integral Professor Fernando Figueira
+ (IMIP), Rua dos Coelhos 300, Recife 50070-902, Brazil.
+FAU - Mota, Patricia Silva
+AU - Mota PS
+AD - Hospital de Cancer de Pernambuco (HCPE), Avenida Cruz Cabuga 1597, Recife
+ 50040-000, Brazil; Instituto de Medicina Integral Professor Fernando Figueira
+ (IMIP), Rua dos Coelhos 300, Recife 50070-902, Brazil.
+FAU - Ferreira de Almeida, Tatiana
+AU - Ferreira de Almeida T
+AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
+ 05652-900, Brazil.
+FAU - Oliveira, Joao Bosco
+AU - Oliveira JB
+AD - Neogenomica, Rua Frei Matias Teves 285, Recife 50070-465, Brazil.
+LA - eng
+PT - Journal Article
+DEP - 20260504
+PL - United States
+TA - HGG Adv
+JT - HGG advances
+JID - 101772885
+SB - IM
+EDAT- 2026/05/05 06:33
+MHDA- 2026/05/05 06:33
+CRDT- 2026/05/05 01:36
+PHST- 2026/01/09 00:00 [received]
+PHST- 2026/04/28 00:00 [revised]
+PHST- 2026/04/28 00:00 [accepted]
+PHST- 2026/05/05 06:33 [medline]
+PHST- 2026/05/05 06:33 [pubmed]
+PHST- 2026/05/05 01:36 [entrez]
+AID - S2666-2477(26)00064-3 [pii]
+AID - 10.1016/j.xhgg.2026.100624 [doi]
+PST - aheadofprint
+SO - HGG Adv. 2026 May 4:100624. doi: 10.1016/j.xhgg.2026.100624.
+
PMID- 41507280
OWN - NLM
STAT- MEDLINE
@@ -1423,7 +1775,7 @@ PMID- 38280392
OWN - NLM
STAT- MEDLINE
DCOM- 20240219
-LR - 20260320
+LR - 20260518
IS - 1474-4465 (Electronic)
IS - 1474-4422 (Linking)
VI - 23
@@ -2795,7 +3147,7 @@ PMID- 34526668
OWN - NLM
STAT- MEDLINE
DCOM- 20220314
-LR - 20241214
+LR - 20260518
IS - 1476-5578 (Electronic)
IS - 1359-4184 (Print)
IS - 1359-4184 (Linking)
diff --git a/data/literature/VWA1_batch_01.txt b/data/literature/VWA1_batch_01.txt
index 7f3d5838..a639515c 100644
--- a/data/literature/VWA1_batch_01.txt
+++ b/data/literature/VWA1_batch_01.txt
@@ -1,13 +1,17 @@
PMID- 42003611
OWN - NLM
-STAT- Publisher
-LR - 20260428
+STAT- MEDLINE
+DCOM- 20260513
+LR - 20260515
IS - 2150-7511 (Electronic)
-DP - 2026 Apr 20
+VI - 17
+IP - 5
+DP - 2026 May 13
TI - Wolbachia uses ankyrin repeats to target specific fly proteins.
PG - e0017226
LID - 10.1128/mbio.00172-26 [doi]
+LID - e00172-26
AB - Arthropods, the most diverse phylum on Earth, are hosts to a plethora of
bacterial parasites that secrete various effectors of unknown function during
infection. The most prevalent of these is the intracellular bacterium Wolbachia
@@ -68,35 +72,52 @@ AU - Newton I
AUID- ORCID: 0000-0002-7118-0374
AD - Department of Biology, Indiana University, Bloomington, Indiana, USA.
LA - eng
+GR - R01AI178815/NH/NIH HHS/United States
PT - Journal Article
DEP - 20260420
PL - United States
TA - mBio
JT - mBio
JID - 101519231
+RN - 0 (Bacterial Proteins)
+RN - 0 (Drosophila Proteins)
+RN - Wolbachia pipientis
SB - IM
UOF - bioRxiv. 2025 May 16:2025.05.15.654400. doi: 10.1101/2025.05.15.654400. PMID:
40463106
+MH - Animals
+MH - *Wolbachia/genetics/metabolism/physiology
+MH - *Ankyrin Repeat
+MH - *Drosophila melanogaster/microbiology/genetics/metabolism
+MH - *Bacterial Proteins/metabolism/genetics
+MH - *Drosophila Proteins/metabolism/genetics
+MH - Host-Pathogen Interactions
+PMC - PMC13170367
OTO - NOTNLM
OT - Drosophila
OT - Wolbachia
OT - ankyrin
OT - effector
+COIS- The authors declare no conflict of interest.
EDAT- 2026/04/20 13:10
-MHDA- 2026/04/20 13:10
+MHDA- 2026/05/13 12:32
+PMCR- 2026/04/20
CRDT- 2026/04/20 06:04
-PHST- 2026/04/20 13:10 [medline]
+PHST- 2026/05/13 12:32 [medline]
PHST- 2026/04/20 13:10 [pubmed]
PHST- 2026/04/20 06:04 [entrez]
+PHST- 2026/04/20 00:00 [pmc-release]
+AID - mbio00172-26 [pii]
+AID - mbio.00172-26 [pii]
AID - 10.1128/mbio.00172-26 [doi]
-PST - aheadofprint
-SO - mBio. 2026 Apr 20:e0017226. doi: 10.1128/mbio.00172-26.
+PST - ppublish
+SO - mBio. 2026 May 13;17(5):e0017226. doi: 10.1128/mbio.00172-26. Epub 2026 Apr 20.
PMID- 33559681
OWN - NLM
STAT- MEDLINE
DCOM- 20210419
-LR - 20250530
+LR - 20260518
IS - 1460-2156 (Electronic)
IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
diff --git a/data/literature/YEATS2_batch_01.txt b/data/literature/YEATS2_batch_01.txt
index df86ecf5..78ba9234 100644
--- a/data/literature/YEATS2_batch_01.txt
+++ b/data/literature/YEATS2_batch_01.txt
@@ -270,7 +270,7 @@ PMID- 38128822
OWN - NLM
STAT- MEDLINE
DCOM- 20240209
-LR - 20240209
+LR - 20260525
IS - 1873-5118 (Electronic)
IS - 0301-0082 (Linking)
VI - 233
diff --git a/data/literature/new_loci_batch_01.txt b/data/literature/new_loci_batch_01.txt
index 114d629a..d0620561 100644
--- a/data/literature/new_loci_batch_01.txt
+++ b/data/literature/new_loci_batch_01.txt
@@ -1,4 +1,2190 @@
+PMID- 42222887
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260601
+LR - 20260601
+IS - 1558-8238 (Electronic)
+IS - 0021-9738 (Linking)
+VI - 136
+IP - 11
+DP - 2026 Jun 1
+TI - Multimodal analysis of cell-free DNA identifies epigenetic biomarkers for
+ amyotrophic lateral sclerosis diagnosis and progression.
+LID - e191508 [pii]
+LID - 10.1172/JCI191508 [doi]
+AB - The role of the epigenome in age-related neurodegenerative disorders remains
+ understudied. Here, we analyzed circulating cell-free DNA (cfDNA) from blood to
+ detect methylation changes as a liquid biopsy for Amyotrophic Lateral Sclerosis
+ (ALS). Our study included 20 patients with sporadic ALS, 10 patients with
+ C9orf72-associated ALS, 10 asymptomatic carriers of the C9orf72 repeat expansion
+ mutation, and 21 nondisease control individuals. Following targeted enzymatic
+ methyl-sequencing (EM-seq) of approximately 4 million CpG sites, we detected
+ numerous differentially methylated genes, including several implicated in ALS
+ disease risk and pathogenesis. By integrating multiple epigenetic features, we
+ delineated a distinct epigenetic signature, which achieved an average area under
+ the curve (AUC) of 0.91 +/- 0.10 upon receiver operator characteristic (ROC)
+ analysis, which enabled detection of approximately 70% of patients with ALS with
+ close to 100% specificity. Furthermore, we also identified a set of genes whose
+ methylation status significantly correlated with clinical disease progression and
+ cerebrospinal fluid (CSF) neurofilament levels. Our results reveal the potential
+ of cfDNA-based biomarkers to accurately diagnose ALS and potentially predict
+ disease progression.
+FAU - Michels, Sebastian
+AU - Michels S
+AD - Department of Neurology, University of Ulm, Ulm, Germany.
+FAU - Chen, Chaorong
+AU - Chen C
+AD - Department of Biological Chemistry.
+FAU - Ruf, Wolfgang P
+AU - Ruf WP
+AD - Department of Neurology, University of Ulm, Ulm, Germany.
+FAU - Garcia Garcia, M Madhy
+AU - Garcia Garcia MM
+AD - Department of Pathology & Laboratory Medicine.
+FAU - Arnold, Frederick J
+AU - Arnold FJ
+AD - Department of Pathology & Laboratory Medicine.
+FAU - Wu, Zhuoxing
+AU - Wu Z
+AD - Department of Biological Chemistry.
+FAU - Bennett, Craig L
+AU - Bennett CL
+AD - Department of Pathology & Laboratory Medicine.
+FAU - Shams, Daniel
+AU - Shams D
+AD - Department of Biological Chemistry.
+FAU - Thompson, Leslie M
+AU - Thompson LM
+AD - Department of Biological Chemistry.
+AD - Department of Psychiatry & Human Behavior, and.
+AD - Department of Neurobiology & Behavior, University of California, Irvine, Irvine,
+ California, USA.
+AD - UCI Institute for Memory Impairment & Neurological Disorders, Irvine, California,
+ USA.
+AD - UCI Stem Cell Research Center, Irvine, California, USA.
+AD - UCI Center for Neurotherapeutics, University of California, Irvine, Irvine,
+ California, USA.
+FAU - Walker, Alyssa C
+AU - Walker AC
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
+FAU - Dickson, Dennis W
+AU - Dickson DW
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
+AD - Neuroscience Graduate Program, Mayo Graduate School, Mayo Clinic College of
+ Medicine, Jacksonville, Florida, USA.
+FAU - Petrucelli, Leonard
+AU - Petrucelli L
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
+AD - Neuroscience Graduate Program, Mayo Graduate School, Mayo Clinic College of
+ Medicine, Jacksonville, Florida, USA.
+FAU - Dorst, Johannes
+AU - Dorst J
+AD - Department of Neurology, University of Ulm, Ulm, Germany.
+FAU - Prudencio, Mercedes
+AU - Prudencio M
+AD - Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
+AD - Neuroscience Graduate Program, Mayo Graduate School, Mayo Clinic College of
+ Medicine, Jacksonville, Florida, USA.
+FAU - Li, Wei
+AU - Li W
+AD - Department of Biological Chemistry.
+FAU - La Spada, Albert R
+AU - La Spada AR
+AD - Department of Biological Chemistry.
+AD - Department of Pathology & Laboratory Medicine.
+AD - Department of Neurobiology & Behavior, University of California, Irvine, Irvine,
+ California, USA.
+AD - UCI Institute for Memory Impairment & Neurological Disorders, Irvine, California,
+ USA.
+AD - UCI Stem Cell Research Center, Irvine, California, USA.
+AD - UCI Center for Neurotherapeutics, University of California, Irvine, Irvine,
+ California, USA.
+LA - eng
+PT - Journal Article
+DEP - 20260601
+PL - United States
+TA - J Clin Invest
+JT - The Journal of clinical investigation
+JID - 7802877
+RN - 0 (Cell-Free Nucleic Acids)
+RN - 0 (Biomarkers)
+RN - 0 (C9orf72 Protein)
+RN - 0 (C9orf72 protein, human)
+RN - 0 (Neurofilament Proteins)
+SB - IM
+MH - Humans
+MH - *Amyotrophic Lateral Sclerosis/genetics/diagnosis/blood
+MH - *Cell-Free Nucleic Acids/genetics/blood/cerebrospinal fluid
+MH - Female
+MH - *Epigenesis, Genetic
+MH - *DNA Methylation
+MH - Male
+MH - Biomarkers/blood/cerebrospinal fluid
+MH - C9orf72 Protein/genetics
+MH - Disease Progression
+MH - Middle Aged
+MH - Aged
+MH - Neurofilament Proteins/cerebrospinal fluid
+MH - Adult
+OTO - NOTNLM
+OT - Biomarkers
+OT - Epigenetics
+OT - Genetics
+OT - Neurodegeneration
+OT - Neuroscience
+EDAT- 2026/06/01 12:38
+MHDA- 2026/06/01 12:39
+CRDT- 2026/06/01 06:19
+PHST- 2025/01/22 00:00 [received]
+PHST- 2026/03/24 00:00 [accepted]
+PHST- 2026/06/01 12:39 [medline]
+PHST- 2026/06/01 12:38 [pubmed]
+PHST- 2026/06/01 06:19 [entrez]
+AID - 191508 [pii]
+AID - 10.1172/JCI191508 [doi]
+PST - epublish
+SO - J Clin Invest. 2026 Jun 1;136(11):e191508. doi: 10.1172/JCI191508. eCollection
+ 2026 Jun 1.
+
+PMID- 42210302
+OWN - NLM
+STAT- Publisher
+LR - 20260529
+IS - 1750-1326 (Electronic)
+IS - 1750-1326 (Linking)
+DP - 2026 May 28
+TI - Temporal single-cell atlas of full-length Huntington's disease mouse model
+ defines stage-specific signatures of corticostriatal dysfunction.
+LID - 10.1186/s13024-026-00960-2 [doi]
+AB - BACKGROUND: Huntington's disease (HD) involves progressive corticostriatal
+ dysfunction, yet the temporal dynamics and cell type-specific vulnerability
+ patterns remain incompletely understood. While recent single-cell studies in
+ rapidly progressing models have revealed early developmental and regional
+ changes, temporal profiling distinguishing pathogenic mechanisms from normal
+ aging in full-length HTT models remains lacking. Resolving stage-specific
+ temporal dynamics across interconnected striatal and cortical neuronal
+ populations over protracted time is essential for identifying drivers of cellular
+ dysfunction. METHODS: A temporal single-nucleus transcriptomic atlas was
+ generated from striatum and motor cortex from heterozygous zQ175 knock-in mice at
+ early symptomatic (6 months) and late symptomatic (18 months) stages. This
+ full-length huntingtin model enables staging of progressive circuit dysfunction
+ alongside physiological aging. The high inherited CAG repeat length of the zQ175
+ model places cells beyond the somatic expansion threshold associated with
+ transcriptional dysregulation and identity erosion in vulnerable human neuronal
+ populations, yet prior to the de-repression crisis and cell loss observed at the
+ most extreme expansions in HD, providing a tractable window into the progressive
+ molecular pathogenic cascade. Genotype-dependent effects were modeled to
+ distinguish cell type-specific signatures of disease mechanisms from age-related
+ and compensatory changes. Integration of weighted gene co-expression and
+ transcription factor regulatory networks with protein-protein interaction
+ databases predicted candidate regulators of stage-specific programs. Findings
+ were validated across human HD datasets and the rapidly progressive R6/2 mouse
+ model. RESULTS: Temporal gene and network analysis revealed diverging, converging
+ and biphasic patterns of transcriptional changes, distinguishing progressive
+ disease and neuronal identity loss from aging. 21 cell type-specific gene
+ co-expression modules were validated in human HD and R6/2 mice datasets,
+ revealing stage-specific shifts in cellular stress, proteostasis, and synaptic
+ programs. Disease modules enriched for CAG repeat length-dependent genes resolved
+ their temporal progression. Shared vulnerability across cortical and striatal
+ projection neurons implicated epigenetic regulator Zswim6 and splicing factors
+ Rbfox1 and Celf2 in corticostriatal dysfunction. Integrative network analysis
+ identified Foxo1, Neurod2, and Npas2 as stage-specific transcriptional
+ regulators. Cross-species validation established conserved gene regulatory
+ modules in human HD, establishing generalizable cell type-specific gene modules
+ of translational relevance. CONCLUSIONS: This temporally resolved atlas reveals
+ stage-specific transcriptional dynamics of disease-relevant gene expression
+ programs and physiological trajectories in vulnerable neuronal populations.
+ distinguished from aging alone. This work establishes an important framework for
+ understanding the temporal and regional coordination of pathogenic mechanisms,
+ providing molecular insights into stage-specific therapeutic intervention.
+CI - (c) 2026. The Author(s).
+FAU - Robbins, Ashley B
+AU - Robbins AB
+AD - Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's
+ Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
+AD - Neuroscience Graduate Group, Biomedical Graduate Studies Program, University of
+ Pennsylvania, Philadelphia, PA, 19104, USA.
+FAU - Ranum, Paul T
+AU - Ranum PT
+AD - Latus Bio, N 30th Street, Philadelphia, PA, 19104, USA.
+FAU - Huerta-Ocampo, Icnelia
+AU - Huerta-Ocampo I
+AD - Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's
+ Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
+FAU - Kuckyr, Michael
+AU - Kuckyr M
+AD - Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's
+ Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
+AD - Cell and Molecular Biology Graduate Group, Biomedical Graduate Studies Program,
+ University of Pennsylvania, Philadelphia, PA, 19104, USA.
+FAU - Davidson, Beverly L
+AU - Davidson BL
+AD - Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's
+ Hospital of Philadelphia, Philadelphia, PA, 19104, USA. davidsonbl@chop.edu.
+AD - Department of Pathology & Laboratory Medicine, University of Pennsylvania,
+ Philadelphia, PA, 19104, USA. davidsonbl@chop.edu.
+LA - eng
+GR - T32 HG000046/HG/NHGRI NIH HHS/United States
+GR - T32 HG000046/HG/NHGRI NIH HHS/United States
+GR - F31 NS122297/NS/NINDS NIH HHS/United States
+PT - Journal Article
+DEP - 20260528
+PL - England
+TA - Mol Neurodegener
+JT - Molecular neurodegeneration
+JID - 101266600
+SB - IM
+OTO - NOTNLM
+OT - CAG repeat expansion
+OT - Huntington's disease
+OT - Motor cortex
+OT - Neurodegeneration
+OT - Neuronal vulnerability
+OT - Omics
+OT - Single-nucleus RNA sequencing
+OT - Striatum
+COIS- Declarations. Ethical approval: All animal work adhered to NIH guidelines under
+ IACUC approved by protocols at the Children's Hospital of Philadelphia. Competing
+ interests: B.L.D is a founder of Latus Bio; and has sponsored research or
+ consults for Carbon Therapeutics, Latus Bio, and Seamless Ther; P.R.R. is a
+ founder and employee of Latus Bio. The remaining authors declare no competing
+ interests.
+EDAT- 2026/05/29 15:44
+MHDA- 2026/05/29 15:44
+CRDT- 2026/05/29 00:03
+PHST- 2026/01/15 00:00 [received]
+PHST- 2026/05/23 00:00 [accepted]
+PHST- 2026/05/29 15:44 [medline]
+PHST- 2026/05/29 15:44 [pubmed]
+PHST- 2026/05/29 00:03 [entrez]
+AID - 10.1186/s13024-026-00960-2 [pii]
+AID - 10.1186/s13024-026-00960-2 [doi]
+PST - aheadofprint
+SO - Mol Neurodegener. 2026 May 28. doi: 10.1186/s13024-026-00960-2.
+
+PMID- 42185880
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260526
+LR - 20260528
+IS - 1868-7083 (Electronic)
+IS - 1868-7075 (Print)
+IS - 1868-7075 (Linking)
+VI - 18
+IP - 1
+DP - 2026 May 26
+TI - DNA methylation profiling in Huntington's disease reveals disease associated
+ changes in the striatum.
+LID - 10.1186/s13148-026-02082-4 [doi]
+LID - 92
+AB - BACKGROUND: Huntington's disease is caused by a trinucleotide CAG repeat
+ expansion in the HTT gene. Despite displaying autosomal dominance, phenotypic
+ variation exists amongst mutation carriers, in particular relating to the age
+ that symptoms first occur. This variation is primarily driven by an inverse
+ relationship between CAG expansion size and age of symptom onset. However, the
+ majority of variation in age of onset that is independent of CAG repeat length is
+ thought to be driven by environmental influences. Since DNA methylation can be
+ altered by environmental factors, and as methylomic variation is reported in
+ other neurodegenerative diseases, it may offer a potential mechanism underlying
+ disease manifestation. RESULTS: We utilized the Illumina EPIC v1 methylation
+ array to profile DNA methylation in 120 samples, including three distinct brain
+ regions (striatum, entorhinal cortex and cerebellum) in 20 Huntington's disease
+ and 22 control donors. We identified seven Bonferroni-significant differentially
+ methylated CpGs within the striatum along with 27 differentially methylated
+ regions, annotated to genes involved in physiological processes known to be
+ disrupted in HD such as the urea cycle and metabolism. Weighted gene correlation
+ network analysis identified modules of co-methylated CpGs that were associated
+ with Huntington's disease, with ontological analyses showing enrichment in
+ disease relevant processes. Furthermore, integration of single-nuclei RNA
+ sequencing data highlighted that genes annotated to these modules are enriched in
+ striatal spiny projection neurons, the primary cell types affected in the
+ disease. CONCLUSIONS: Here, we present the first epigenome-wide association study
+ of Huntington's disease conducted in the striatum, the primary region of
+ neuropathology, along with matched entorhinal cortex and cerebellum on the
+ Illumina EPIC v1 array. Our results suggest that DNA methylation is altered at
+ loci associated with Huntington's disease in disease relevant regions and cell
+ types and strengthens evidence for areas of potential therapeutic intervention.
+CI - (c) 2026. The Author(s).
+FAU - Wheildon, Gregory
+AU - Wheildon G
+AD - Department of Clinical and Biomedical Sciences, Faculty of Health and Life
+ Sciences, University of Exeter, Exeter, UK.
+FAU - Smith, Adam R
+AU - Smith AR
+AD - Department of Clinical and Biomedical Sciences, Faculty of Health and Life
+ Sciences, University of Exeter, Exeter, UK.
+FAU - Weymouth, Luke
+AU - Weymouth L
+AD - Department of Clinical and Biomedical Sciences, Faculty of Health and Life
+ Sciences, University of Exeter, Exeter, UK.
+FAU - Harvey, Joshua
+AU - Harvey J
+AD - Department of Clinical and Biomedical Sciences, Faculty of Health and Life
+ Sciences, University of Exeter, Exeter, UK.
+FAU - Kouhsar, Morteza
+AU - Kouhsar M
+AD - Department of Clinical and Biomedical Sciences, Faculty of Health and Life
+ Sciences, University of Exeter, Exeter, UK.
+FAU - MacBean, Lachlan F
+AU - MacBean LF
+AD - Department of Clinical and Biomedical Sciences, Faculty of Health and Life
+ Sciences, University of Exeter, Exeter, UK.
+FAU - Troakes, Claire
+AU - Troakes C
+AD - Institute of Psychiatry, Psychology & Neuroscience (IoPPN), King's College
+ London, De Crespigny Park, London, UK.
+FAU - Pishva, Ehsan
+AU - Pishva E
+AD - Department of Clinical and Biomedical Sciences, Faculty of Health and Life
+ Sciences, University of Exeter, Exeter, UK.
+AD - Department of Psychiatry and Neuropsychology, Mental Health and Neuroscience
+ Research Institute (MHeNS), Maastricht University, Maastricht, The Netherlands.
+FAU - Smith, Rebecca G
+AU - Smith RG
+AD - Department of Clinical and Biomedical Sciences, Faculty of Health and Life
+ Sciences, University of Exeter, Exeter, UK.
+FAU - Lunnon, Katie
+AU - Lunnon K
+AD - Department of Clinical and Biomedical Sciences, Faculty of Health and Life
+ Sciences, University of Exeter, Exeter, UK. k.lunnon@exeter.ac.uk.
+LA - eng
+GR - MR/Y014685/1/MRC_/Medical Research Council/United Kingdom
+PT - Journal Article
+DEP - 20260526
+PL - Germany
+TA - Clin Epigenetics
+JT - Clinical epigenetics
+JID - 101516977
+RN - 0 (Huntingtin Protein)
+SB - IM
+MH - Humans
+MH - *Huntington Disease/genetics
+MH - *DNA Methylation/genetics
+MH - Male
+MH - Middle Aged
+MH - Female
+MH - Adult
+MH - CpG Islands
+MH - *Corpus Striatum/metabolism
+MH - Aged
+MH - Huntingtin Protein/genetics
+MH - Entorhinal Cortex/metabolism
+MH - Case-Control Studies
+MH - Trinucleotide Repeat Expansion
+MH - Epigenesis, Genetic
+MH - Cerebellum/metabolism
+PMC - PMC13202909
+OTO - NOTNLM
+OT - Brain
+OT - Cerebellum
+OT - DNA methylation
+OT - Entorhinal cortex
+OT - Epigenetics
+OT - Epigenome-wide association study (EWAS)
+OT - Huntington's disease (HD)
+OT - Illumina infinium methylation EPIC v1.0 array
+OT - Striatum
+OT - Weighted gene correlation network analysis (WGCNA)
+COIS- Declarations. Ethics approval and consent to participate: Ethical approval for
+ the study was granted from the University of Exeter Medical School Research
+ Ethics Committee (13/02/009). Consent for publication: Not applicable. Competing
+ interests: The authors declare no competing interests.
+EDAT- 2026/05/26 00:32
+MHDA- 2026/05/26 06:31
+PMCR- 2026/05/26
+CRDT- 2026/05/25 23:58
+PHST- 2025/05/16 00:00 [received]
+PHST- 2026/02/03 00:00 [accepted]
+PHST- 2026/05/26 06:31 [medline]
+PHST- 2026/05/26 00:32 [pubmed]
+PHST- 2026/05/25 23:58 [entrez]
+PHST- 2026/05/26 00:00 [pmc-release]
+AID - 10.1186/s13148-026-02082-4 [pii]
+AID - 2082 [pii]
+AID - 10.1186/s13148-026-02082-4 [doi]
+PST - epublish
+SO - Clin Epigenetics. 2026 May 26;18(1):92. doi: 10.1186/s13148-026-02082-4.
+
+PMID- 42182465
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260525
+LR - 20260525
+IS - 2692-8205 (Electronic)
+IS - 2692-8205 (Linking)
+DP - 2026 May 11
+TI - A chemoinformatics-guided platform for efficient discovery of RNA-binding small
+ molecules: Proof-of-concept for myotonic dystrophy type 1.
+LID - 2026.05.08.723748 [pii]
+LID - 10.64898/2026.05.08.723748 [doi]
+AB - Structured RNAs cause human diseases but remain challenging to target selectively
+ with small molecules. Here, we report a chemoinformatics-guided discovery
+ framework that integrates fingerprint-based molecular design, experimental
+ validation, and mechanistic profiling to identify small molecules that bind
+ highly structured, disease-associated RNAs. Using an RNA-binder fingerprint
+ derived from known ligands, a Tversky similarity screen of >8 million compounds
+ yielded a 150-member library enriched in chemical space for RNA-active scaffolds.
+ Target engagement and cell-based assays identified multiple selective ligands for
+ the pathogenic expanded triplet repeat, r(CUG)exp, that causes myotonic dystrophy
+ type 1 (DM1) by binding and sequestering the RNA-binding protein muscleblind-like
+ 1 (MBNL1). Biophysical and single-molecule analyses revealed that the small
+ molecules bind the 1x1 nucleotide U/U internal loops formed when r(CUG)exp folds,
+ partially block MBNL1 binding, and modulate RNA folding equilibria. Two optimized
+ scaffolds rescued MBNL1-dependent splicing in patient-derived myotubes with
+ micromolar potency and minimal cytotoxicity. This study establishes a
+ generalizable, data-driven platform for discovering drug-like RNA-binding lead
+ small molecules and demonstrates its application to the toxic repeat expansion
+ RNA underlying DM1.
+FAU - Taghavi, Amirhossein
+AU - Taghavi A
+FAU - Shan, Jingsong
+AU - Shan J
+FAU - Yao, Xiyuan
+AU - Yao X
+FAU - Zanon, Patrick R A
+AU - Zanon PRA
+FAU - Sung, Kisu
+AU - Sung K
+FAU - Simba-Lahuas, Alvaro
+AU - Simba-Lahuas A
+FAU - Gorlach, Sylwia
+AU - Gorlach S
+FAU - Labuhn, Henning
+AU - Labuhn H
+FAU - Salthouse, David
+AU - Salthouse D
+FAU - Wang, Zhen
+AU - Wang Z
+FAU - Feri, Adeline
+AU - Feri A
+FAU - Disney, Matthew David
+AU - Disney MD
+AUID- ORCID: 0000-0001-8486-1796
+LA - eng
+PT - Journal Article
+PT - Preprint
+DEP - 20260511
+PL - United States
+TA - bioRxiv
+JT - bioRxiv : the preprint server for biology
+JID - 101680187
+PMC - PMC13192654
+EDAT- 2026/05/25 12:34
+MHDA- 2026/05/25 12:35
+PMCR- 2026/05/21
+CRDT- 2026/05/25 08:10
+PHST- 2026/05/25 12:35 [medline]
+PHST- 2026/05/25 12:34 [pubmed]
+PHST- 2026/05/25 08:10 [entrez]
+PHST- 2026/05/21 00:00 [pmc-release]
+AID - 2026.05.08.723748 [pii]
+AID - 10.64898/2026.05.08.723748 [doi]
+PST - epublish
+SO - bioRxiv [Preprint]. 2026 May 11:2026.05.08.723748. doi:
+ 10.64898/2026.05.08.723748.
+
+PMID- 42182232
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260525
+LR - 20260525
+IS - 2692-8205 (Electronic)
+IS - 2692-8205 (Linking)
+DP - 2026 May 12
+TI - C57BL/6 BAC-CAG Huntington's disease mice show somatic CAG expansion and
+ responses to small interfering RNAs comparable to the FVB strain.
+LID - 2026.05.08.723329 [pii]
+LID - 10.64898/2026.05.08.723329 [doi]
+AB - Huntington's disease (HD) is a neurodegenerative disorder caused by CAG repeat
+ expansion in the huntingtin (HTT) gene, with longer repeats linked to earlier
+ onset. Somatic CAG expansion, particularly in the striatum, contributes to
+ disease progression and is influenced by HTT biology and genetic modifiers.
+ Modulating somatic expansion is emerging as a promising approach to slow or
+ prevent HD, and mouse models have been crucial for preclinical testing of
+ different therapeutic strategies. The BAC-CAG model, developed on the FVB strain,
+ has been used to study somatic expansion of human expanded HTT. However,
+ comparisons with other key HD mouse models have been limited by differences in
+ genetic background, as many other models are on the C57BL/6 strain. The BAC-CAG
+ model has now been developed on a C57BL/6 background. To determine whether the
+ C57BL/6 BAC-CAG model can be used to study and modulate somatic expansion, we
+ compared CAG expansion in mice on C57BL/6 or FVB backgrounds, with and without
+ intraventricular divalent small interfering RNAs (siRNA) targeting HD modifiers
+ MutS homolog 3 (MSH3) and HTT. Both strains exhibited robust, comparable somatic
+ expansion over two months, which was blocked by MSH3-, but not HTT-, targeted
+ siRNA. RNA sequencing identified gene expression differences primarily in
+ pseudogenes, with no differences in endogenous Htt , human HTT , or mismatch
+ repair genes. These results demonstrate that BAC-CAG mice on a C57BL/6 background
+ exhibit somatic CAG expansion comparable to the validated FVB strain, providing a
+ model to study and preclinically test therapies targeting somatic expansion in
+ HD.
+FAU - Belgrad, Jillian
+AU - Belgrad J
+AUID- ORCID: 0000-0002-2577-2336
+FAU - Summers, Ashley
+AU - Summers A
+FAU - Hildebrand, Samuel
+AU - Hildebrand S
+FAU - Sapp, Ellen
+AU - Sapp E
+FAU - Luu, Eric
+AU - Luu E
+FAU - Yamada, Nozomi
+AU - Yamada N
+FAU - O'Reilly, Dan
+AU - O'Reilly D
+FAU - Vogt, Thomas F
+AU - Vogt TF
+FAU - Howland, David
+AU - Howland D
+FAU - Yang, X William
+AU - Yang XW
+FAU - DiFiglia, Marian
+AU - DiFiglia M
+FAU - Aronin, Neil
+AU - Aronin N
+FAU - Khvorova, Anastasia
+AU - Khvorova A
+AUID- ORCID: 0000-0001-6928-8071
+LA - eng
+PT - Journal Article
+PT - Preprint
+DEP - 20260512
+PL - United States
+TA - bioRxiv
+JT - bioRxiv : the preprint server for biology
+JID - 101680187
+PMC - PMC13192684
+EDAT- 2026/05/25 12:35
+MHDA- 2026/05/25 12:36
+PMCR- 2026/05/21
+CRDT- 2026/05/25 08:08
+PHST- 2026/05/25 12:36 [medline]
+PHST- 2026/05/25 12:35 [pubmed]
+PHST- 2026/05/25 08:08 [entrez]
+PHST- 2026/05/21 00:00 [pmc-release]
+AID - 2026.05.08.723329 [pii]
+AID - 10.64898/2026.05.08.723329 [doi]
+PST - epublish
+SO - bioRxiv [Preprint]. 2026 May 12:2026.05.08.723329. doi:
+ 10.64898/2026.05.08.723329.
+
+PMID- 42168446
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260521
+LR - 20260524
+IS - 1432-1459 (Electronic)
+IS - 0340-5354 (Print)
+IS - 0340-5354 (Linking)
+VI - 273
+IP - 6
+DP - 2026 May 21
+TI - SCA27B in Brazil: frequency, phenotype and genotype-phenotype correlations.
+LID - 10.1007/s00415-026-13880-4 [doi]
+LID - 326
+AB - BACKGROUND: Spinocerebellar Ataxia 27B (SCA27B) is a recently described autosomal
+ dominant ataxia caused by uniallelic GAA intronic expansions at FGF14. It is a
+ frequent SCA subtype in North American/European populations, accounting for > 20%
+ of all SCAs in some series. Despite that, its frequency as well as phenotype in
+ Latin America remains to be established. OBJECTIVES: To determine the frequency
+ and the clinical phenotype of SCA27B in a large Brazilian SCA cohort. METHODS: We
+ recruited 498 SCA patients from 322 unrelated families followed in a reference
+ center. All patients had demographic and clinical data collected. The estimated
+ disease progression rate was computed as the ratio between the Scale for the
+ Assessment and Rating of Ataxia (SARA) score and disease duration (in years).
+ Genetic testing included long-range and triplet-primed PCR-based approaches to
+ diagnose SCA1, 2, 3, 6, 7 and SCA27B. RESULTS: SCA27B was identified in 9 out of
+ the 322 index-patients, totaling 2.8% of all cases. It stands as the fifth most
+ common SCA, surpassed by SCAs 3, 1, 2, and 7, respectively. The typical phenotype
+ in our cases was similar to previous descriptions: late onset (mean age
+ 55.5 years), slow progression (1.0 points/year) and relatively pure ataxic
+ phenotype (11/12). In this cohort, the estimated disease progression rate did
+ correlate with age at onset, but not with (GAA)n. DISCUSSION: SCA27B is a
+ prevalent SCA in Brazil, but the relative frequency seems to be smaller than in
+ Europe/Canada. It should be included in SCA routine diagnostic protocols. Age at
+ onset might be a potential prognostic marker in this condition.
+CI - (c) 2026. The Author(s).
+FAU - de Jesus Araujo Dias, Amanda
+AU - de Jesus Araujo Dias A
+AD - Department of Neurology, School of Medical Sciences, University of Campinas
+ (UNICAMP), Rua Tessalia Vieira de Camargo, 126, Cidade Universitaria "Zeferino
+ Vaz", Campinas, Sao Paulo, 13083-887, Brazil.
+FAU - Silveira, Cynthia
+AU - Silveira C
+AD - Department of Neurology, School of Medical Sciences, University of Campinas
+ (UNICAMP), Rua Tessalia Vieira de Camargo, 126, Cidade Universitaria "Zeferino
+ Vaz", Campinas, Sao Paulo, 13083-887, Brazil.
+FAU - Vinagre, Adriana Mendes
+AU - Vinagre AM
+AD - Department of Neurology, School of Medical Sciences, University of Campinas
+ (UNICAMP), Rua Tessalia Vieira de Camargo, 126, Cidade Universitaria "Zeferino
+ Vaz", Campinas, Sao Paulo, 13083-887, Brazil.
+FAU - Bonadia, Luciana Cardoso
+AU - Bonadia LC
+AD - Laboratory of Molecular Genetics, School of Medical Sciences, University of
+ Campinas (UNICAMP), Campinas, Sao Paulo, Brazil.
+FAU - Santos, Nadson Bruno Serra
+AU - Santos NBS
+AD - Department of Neurology, School of Medical Sciences, University of Campinas
+ (UNICAMP), Rua Tessalia Vieira de Camargo, 126, Cidade Universitaria "Zeferino
+ Vaz", Campinas, Sao Paulo, 13083-887, Brazil.
+FAU - Rezende, Thiago Junqueira R
+AU - Rezende TJR
+AD - Department of Neurology, School of Medical Sciences, University of Campinas
+ (UNICAMP), Rua Tessalia Vieira de Camargo, 126, Cidade Universitaria "Zeferino
+ Vaz", Campinas, Sao Paulo, 13083-887, Brazil.
+FAU - Corazza, Luiza Alves
+AU - Corazza LA
+AD - Department of Neurology, Ataxia Unit, Federal University of Sao Paulo (UNIFESP),
+ Sao Paulo, SP, Brazil.
+FAU - Pedroso, Jose Luiz
+AU - Pedroso JL
+AD - Department of Neurology, Ataxia Unit, Federal University of Sao Paulo (UNIFESP),
+ Sao Paulo, SP, Brazil.
+FAU - Barsottini, Orlando Graziani P
+AU - Barsottini OGP
+AD - Department of Neurology, Ataxia Unit, Federal University of Sao Paulo (UNIFESP),
+ Sao Paulo, SP, Brazil.
+FAU - de Lima, Fabricio Diniz
+AU - de Lima FD
+AD - Department of Neurology, School of Medical Sciences, University of Campinas
+ (UNICAMP), Rua Tessalia Vieira de Camargo, 126, Cidade Universitaria "Zeferino
+ Vaz", Campinas, Sao Paulo, 13083-887, Brazil.
+FAU - Franca Junior, Marcondes C
+AU - Franca Junior MC
+AUID- ORCID: 0000-0003-0898-2419
+AD - Department of Neurology, School of Medical Sciences, University of Campinas
+ (UNICAMP), Rua Tessalia Vieira de Camargo, 126, Cidade Universitaria "Zeferino
+ Vaz", Campinas, Sao Paulo, 13083-887, Brazil. mcfjr@unicamp.br.
+LA - eng
+GR - 2013/07559-3/Fundacao de Amparo a Pesquisa do Estado de Sao Paulo/
+PT - Journal Article
+DEP - 20260521
+PL - Germany
+TA - J Neurol
+JT - Journal of neurology
+JID - 0423161
+SB - IM
+MH - Humans
+MH - Brazil/epidemiology
+MH - Male
+MH - Female
+MH - Middle Aged
+MH - *Spinocerebellar Ataxias/genetics/epidemiology/physiopathology
+MH - Adult
+MH - Aged
+MH - Phenotype
+MH - Genetic Association Studies
+MH - Disease Progression
+MH - Cohort Studies
+MH - Age of Onset
+MH - Adolescent
+MH - Young Adult
+MH - Genotype
+PMC - PMC13194261
+OTO - NOTNLM
+OT - Ataxia
+OT - SCA27B
+OT - epidemiology
+OT - repeat expansion disease
+COIS- Declarations. Conflicts of interest: There is no conflict of interest.
+EDAT- 2026/05/22 00:33
+MHDA- 2026/05/22 00:34
+PMCR- 2026/05/21
+CRDT- 2026/05/21 23:33
+PHST- 2026/02/22 00:00 [received]
+PHST- 2026/05/13 00:00 [accepted]
+PHST- 2026/05/03 00:00 [revised]
+PHST- 2026/05/22 00:34 [medline]
+PHST- 2026/05/22 00:33 [pubmed]
+PHST- 2026/05/21 23:33 [entrez]
+PHST- 2026/05/21 00:00 [pmc-release]
+AID - 10.1007/s00415-026-13880-4 [pii]
+AID - 13880 [pii]
+AID - 10.1007/s00415-026-13880-4 [doi]
+PST - epublish
+SO - J Neurol. 2026 May 21;273(6):326. doi: 10.1007/s00415-026-13880-4.
+
+PMID- 42158267
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260520
+LR - 20260520
+IS - 2376-7839 (Print)
+IS - 2376-7839 (Electronic)
+IS - 2376-7839 (Linking)
+VI - 12
+IP - 3
+DP - 2026 Jun
+TI - Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With
+ Late-Onset Behavioral Change.
+PG - e200382
+LID - 10.1212/NXG.0000000000200382 [doi]
+LID - e200382
+AB - BACKGROUND AND OBJECTIVES: The diagnosis of behavioral variant frontotemporal
+ dementia is often difficult because behavioral change has a broad differential
+ diagnosis. Genetic testing may aid in the diagnostic process. We investigated the
+ prevalence of pathogenic genetic variants (PGVs) in individuals referred to our
+ memory clinic with late-onset behavioral change and identified clinical "red
+ flags" for PGV carriership, specifically in diagnostically ambiguous cases.
+ METHODS: Individuals presenting with late-onset behavioral change were included
+ from the Late Onset Frontal Lobe Syndrome study (n = 88), Social Brain Project (n
+ = 265), and Amsterdam Dementia Cohort (n = 349). PGV prevalence was calculated.
+ Among diagnostically ambiguous individuals at baseline, univariate logistic
+ regression models were fitted to identify clinical cues for PGV carriership.
+ Based on these results, we fitted multivariate logistic regression models. We
+ also assessed the association of cortical thickness and subcortical volumes with
+ PGV carriership. RESULTS: Among 702 individuals, 228 received a diagnosis in the
+ frontotemporal lobar degeneration (FTLD) spectrum at baseline and 474 were
+ diagnostically ambiguous. A total of 106 individuals (15%) carried a PGV (20% in
+ FTLD; 13% in ambiguous cases). The most common PGV in both groups was the C9orf72
+ repeat expansion (56% and 57%), followed by microtubule-associated protein tau
+ (13% and 11%) and GRN (11% and 10%). A Huntingtin repeat expansion was found in 5
+ ambiguous cases. In multivariate analyses, PGV carriership was associated with a
+ family history of dementia (OR(FH) [95% CI] 3.1 [1.7-5.5], p < 0.001), younger
+ age (OR(age,10yr) [95% CI] 2.0 [1.4-2.9], p < 0.001), female sex (OR(female) [95%
+ CI] 2.0 [1.1-3.6], p = 0.02), a Frontal Assessment Battery score <13 (OR(FAB)
+ [95% CI] 2.1 [1.1-4.1], p < 0.05), and medial temporal and posterior atrophy
+ (OR(MTA) [95% CI] 3.2 [1.0-10], p < 0.05; OR(PCA) [95% CI] 13 [2.0-81], p <
+ 0.01). In additional MRI analyses, atrophy in the thalamus (standardized beta +/-
+ standard error = -1.26 +/- 0.28), putamen (-1.15 +/- 0.24), and superior parietal
+ cortex (-1.07 +/- 0.22) was most strongly associated with PGV carriership.
+ DISCUSSION: Genetic testing for dementia-associated genes should be considered in
+ all late-onset behavioral change cases. While we propose several clinical cues as
+ "red flags" for PGV carriership, their absence should not preclude genetic
+ counseling. The higher PGV prevalence among diagnostically ambiguous women
+ suggests that FTLD may be underrecognized in women compared with men.
+CI - Copyright (c) 2026 The Author(s). Published by Wolters Kluwer Health, Inc. on
+ behalf of the American Academy of Neurology.
+FAU - Groeneveld, Joan
+AU - Groeneveld J
+AUID- ORCID: 0009-0008-3852-4631
+AD - Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije
+ Universiteit Amsterdam, Amsterdam UMC Location VUmc, the Netherlands.
+AD - Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam
+ UMC, the Netherlands.
+AD - Amsterdam Neuroscience, Neurodegeneration, the Netherlands.
+FAU - de Boer, Sterre C M
+AU - de Boer SCM
+AUID- ORCID: 0000-0002-9595-7221
+AD - Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam
+ UMC, the Netherlands.
+AD - Amsterdam Neuroscience, Neurodegeneration, the Netherlands.
+FAU - Krudop, Welmoed
+AU - Krudop W
+AUID- ORCID: 0009-0000-0221-7471
+AD - Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam
+ UMC, the Netherlands.
+AD - Department of Old Age Psychiatry and Neuropsychiatry, GGZ InGeest Specialised
+ Mental Health Care, Location De Nieuwe Valerius, Amsterdam, the Netherlands.
+AD - Department of Psychiatry, Vrije Universiteit Amsterdam, Amsterdam UMC, the
+ Netherlands.
+FAU - Ozhegov, Georgii
+AU - Ozhegov G
+AUID- ORCID: 0000-0002-0777-6632
+AD - Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije
+ Universiteit Amsterdam, Amsterdam UMC Location VUmc, the Netherlands.
+AD - Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam
+ UMC, the Netherlands.
+AD - Amsterdam Neuroscience, Neurodegeneration, the Netherlands.
+FAU - Hulsman, Marc
+AU - Hulsman M
+AUID- ORCID: 0000-0002-9889-3606
+AD - Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije
+ Universiteit Amsterdam, Amsterdam UMC Location VUmc, the Netherlands.
+AD - Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam
+ UMC, the Netherlands.
+AD - Amsterdam Neuroscience, Neurodegeneration, the Netherlands.
+FAU - Dols, Annemieke
+AU - Dols A
+AUID- ORCID: 0000-0003-1964-0318
+AD - Amsterdam Neuroscience, Mood, Anxiety, Psychosis, Stress and Sleep, the
+ Netherlands.
+AD - Department of Psychiatry, Division Brain, UMC Utrecht, the Netherlands.
+FAU - Kerssens, Cora J
+AU - Kerssens CJ
+AUID- ORCID: 0009-0007-2590-104X
+AD - Department of Old Age Psychiatry and Neuropsychiatry, GGZ InGeest Specialised
+ Mental Health Care, Location De Nieuwe Valerius, Amsterdam, the Netherlands.
+FAU - Schouws, Sigfried
+AU - Schouws S
+AUID- ORCID: 0000-0003-0591-5405
+AD - Department of Old Age Psychiatry and Neuropsychiatry, GGZ InGeest Specialised
+ Mental Health Care, Location De Nieuwe Valerius, Amsterdam, the Netherlands.
+FAU - Barkhof, Frederik
+AU - Barkhof F
+AUID- ORCID: 0000-0003-3543-3706
+AD - Department of Radiology and Nuclear Medicine, Amsterdam UMC, Vrije Universiteit,
+ the Netherlands.
+AD - Queen Square Institute of Neurology and Centre for Medical Image Computing,
+ University College London, United Kingdom.
+FAU - Holstege, Henne
+AU - Holstege H
+AUID- ORCID: 0000-0002-7688-3087
+AD - Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije
+ Universiteit Amsterdam, Amsterdam UMC Location VUmc, the Netherlands.
+AD - VIB Center for Brain and Disease Research, Leuven, Belgium.
+AD - Department of Neurosciences, Leuven Brain Institute, KU Leuven, Belgium; and.
+AD - Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam
+ UMC, the Netherlands.
+AD - Amsterdam Neuroscience, Neurodegeneration, the Netherlands.
+FAU - Pijnenburg, Yolande A L
+AU - Pijnenburg YAL
+AUID- ORCID: 0000-0003-2464-1905
+AD - Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam
+ UMC, the Netherlands.
+AD - Amsterdam Neuroscience, Neurodegeneration, the Netherlands.
+FAU - Van Der Lee, Sven J
+AU - Van Der Lee SJ
+AUID- ORCID: 0000-0003-1606-8643
+AD - Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije
+ Universiteit Amsterdam, Amsterdam UMC Location VUmc, the Netherlands.
+AD - Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam
+ UMC, the Netherlands.
+AD - Amsterdam Neuroscience, Neurodegeneration, the Netherlands.
+FAU - Duits, Flora H
+AU - Duits FH
+AUID- ORCID: 0000-0002-3436-1125
+AD - Neurochemistry Laboratory, Department of Laboratory Medicine, Vrije Universiteit
+ Amsterdam, Amsterdam UMC, the Netherlands.
+AD - Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam
+ UMC, the Netherlands.
+AD - Amsterdam Neuroscience, Neurodegeneration, the Netherlands.
+LA - eng
+PT - Journal Article
+DEP - 20260514
+PL - United States
+TA - Neurol Genet
+JT - Neurology. Genetics
+JID - 101671068
+PMC - PMC13182741
+COIS- J. Groeneveld, S.C.M. de Boer, W. Krudop, G. Ozhegov, M. Hulsman, A. Dols, C.J.
+ Kerssens, and S. Schouws report no disclosures relevant to the manuscript. F.
+ Barkhof serves as a Steering Committee or Data Safety Monitoring Board member for
+ Biogen, Merck, Eisai, and Prothena; an advisory board member for Combinostics,
+ Scottish Brain Sciences, and Alzheimer Europe; and a consultant for Roche,
+ Celltrion, Rewind Therapeutics, Merck, and Bracco. He has research agreements
+ with ADDI, Merck, Biogen, GE Healthcare, and Roche and is a co-founder and
+ shareholder of Queen Square Analytics Ltd. H. Holstege received consultancy fees
+ from Retromer Therapeutics and Muna Therapeutics, and all funding is paid to her
+ institution. Y.A.L. Pijnenburg, S.J. van der Lee, and F.H. Duits report no
+ disclosures relevant to the manuscript. Go to Neurology.org/OA for full
+ disclosures.
+EDAT- 2026/05/20 06:31
+MHDA- 2026/05/20 06:32
+PMCR- 2026/05/14
+CRDT- 2026/05/20 04:38
+PHST- 2025/08/27 00:00 [received]
+PHST- 2026/02/11 00:00 [accepted]
+PHST- 2026/05/20 06:32 [medline]
+PHST- 2026/05/20 06:31 [pubmed]
+PHST- 2026/05/20 04:38 [entrez]
+PHST- 2026/05/14 00:00 [pmc-release]
+AID - NXG-2025-200278 [pii]
+AID - 10.1212/NXG.0000000000200382 [doi]
+PST - epublish
+SO - Neurol Genet. 2026 May 14;12(3):e200382. doi: 10.1212/NXG.0000000000200382.
+ eCollection 2026 Jun.
+
+PMID- 42157275
+OWN - NLM
+STAT- In-Process
+LR - 20260522
+IS - 1750-1172 (Electronic)
+IS - 1750-1172 (Linking)
+VI - 21
+IP - 1
+DP - 2026 May 19
+TI - The genetic and clinical characteristics of oculopharyngeal muscular dystrophy
+ patients in Israel.
+LID - 10.1186/s13023-026-04313-6 [doi]
+LID - 203
+AB - BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal
+ dominant myopathy, caused by a (GCN)n/polyalanine repeat expansion in the PABPN1
+ gene. In Israel, OPMD is particularly prevalent among individuals of Jewish
+ Bukharian descent due to a (GCN)13 repeat expansion. In this retrospective study,
+ we collected genetic and clinical data of OPMD patients who visited the Israeli
+ reference clinic from its opening in 2022 through September 2025 and were
+ enrolled in the Israeli OPMD registry (IsrO-PMD). RESULTS: A total of 102 Jewish
+ individuals with OPMD symptoms and a confirmed molecular diagnosis were
+ identified (52 males, 51.0%). The heterozygous (GCN)13 repeat allele (10/13
+ genotype) was found in 95 patients (93.1%), of whom 89 (93.7%) were of Bukharian
+ descent, five (5.6%) were of Bulgarian origin, and a single patient was from
+ Georgia. In this 10/13 genotype group (n = 95), initial symptoms were dysphagia
+ and ptosis, which occurred at a similar mean age of 53.0 +/- 8.3 and 53.9 +/- 7.2
+ years, respectively. Symptoms of limb muscle weakness occurred significantly
+ later, at a mean age of 57.9 +/- 10.2 years. Overall, the onset of symptoms
+ occurred approximately 4 years earlier in females (48.9 +/- 7.9, n = 48) than in
+ males (52.6 +/- 7.1, n = 47), and this difference was statistically significant
+ (p = 0.02). However, the difference did not reach significance when calculated
+ for each of the three symptoms separately. On evaluation, at a mean age of
+ 61.6 +/- 10.7 years, dysphagia was present in 92/95 (96.8%) of patients, ptosis in
+ 85/95 (89.5%), and limb muscle weakness in 56/95 (58.9%) of cases, most notably
+ of hip flexion and abduction. Different genotypes were detected in seven
+ patients: Three of Bukharian descent were homozygous for (GCN)13 repeats, three
+ of Karaite descent were homozygous for (GCN)11 repeats, and one of Tunisian
+ origion was heterozygous for (GCN)15 repeats (10/15 genotype). DISCUSSION: While
+ most OPMD patients in Israel are of Jewish Bukharian descent, patients from other
+ origins were also identified. Dysphagia and ptosis are the common initial
+ symptoms, and overall, the onset of symptoms was reportedly earlier in females.
+ Proximal muscle weakness becomes common with disease progression. Further studies
+ are required to delineate genotype-phenotype correlations.
+FAU - Ben-David, Merav
+AU - Ben-David M
+AD - Department of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
+AD - Multidisciplinary Service for OPMD Patients, Sheba Medical Center, Tel Hashomer,
+ Ramat-Gan, Israel.
+FAU - Greenbaum, Lior
+AU - Greenbaum L
+AD - The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel
+ Hashomer, Ramat-Gan, Israel.
+AD - Gray Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.
+AD - Multidisciplinary Service for OPMD Patients, Sheba Medical Center, Tel Hashomer,
+ Ramat-Gan, Israel.
+FAU - Nikitn, Vera
+AU - Nikitn V
+AD - Department of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
+AD - Multidisciplinary Service for OPMD Patients, Sheba Medical Center, Tel Hashomer,
+ Ramat-Gan, Israel.
+FAU - Zvulunov, Alex
+AU - Zvulunov A
+AD - Department of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
+AD - Multidisciplinary Service for OPMD Patients, Sheba Medical Center, Tel Hashomer,
+ Ramat-Gan, Israel.
+AD - Recanati School of Medicine, Reichman University, Herzliya, Israel.
+AD - The Non-Profit Organization for Promotion of Health and Cure of OPMD, Bnei Dror,
+ Israel.
+FAU - Charas, Hagit
+AU - Charas H
+AD - Department of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
+AD - Multidisciplinary Service for OPMD Patients, Sheba Medical Center, Tel Hashomer,
+ Ramat-Gan, Israel.
+FAU - Divon, Naama
+AU - Divon N
+AD - Department of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
+AD - Multidisciplinary Service for OPMD Patients, Sheba Medical Center, Tel Hashomer,
+ Ramat-Gan, Israel.
+FAU - Barkan, Tali
+AU - Barkan T
+AD - The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel
+ Aviv, Israel.
+FAU - Chorin, Odelia
+AU - Chorin O
+AD - The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel
+ Hashomer, Ramat-Gan, Israel.
+AD - Gray Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.
+FAU - Reznik-Wolf, Haike
+AU - Reznik-Wolf H
+AD - The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel
+ Hashomer, Ramat-Gan, Israel.
+FAU - Zloto, Ofira
+AU - Zloto O
+AD - Multidisciplinary Service for OPMD Patients, Sheba Medical Center, Tel Hashomer,
+ Ramat-Gan, Israel.
+AD - Department of Ophthalmology, Sheba Medical Center, Tel Hashomer, Ramat Gan,
+ Israel.
+FAU - Benyamini, Limor
+AU - Benyamini L
+AD - Multidisciplinary Service for OPMD Patients, Sheba Medical Center, Tel Hashomer,
+ Ramat-Gan, Israel.
+AD - Department of Otolaryngology, Head and Neck Surgery, Sheba Medical Center, Tel
+ Hashomer, Ramat Gan, Israel.
+FAU - Shelly, Shahar
+AU - Shelly S
+AD - Department of Neurology, Rambam Medical Center, Haifa, Israel.
+AD - Rappaport Faculty of Medicine, Technion, Haifa, Israel.
+AD - Department of Neurology, Mayo Clinic, Rochester, MN, USA.
+FAU - Dori, Amir
+AU - Dori A
+AUID- ORCID: 0000-0003-4633-1481
+AD - Department of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
+ amirdori@tauex.tau.ac.il.
+AD - Gray Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.
+ amirdori@tauex.tau.ac.il.
+AD - Multidisciplinary Service for OPMD Patients, Sheba Medical Center, Tel Hashomer,
+ Ramat-Gan, Israel. amirdori@tauex.tau.ac.il.
+LA - eng
+PT - Journal Article
+DEP - 20260519
+PL - England
+TA - Orphanet J Rare Dis
+JT - Orphanet journal of rare diseases
+JID - 101266602
+SB - IM
+PMC - PMC13188457
+OTO - NOTNLM
+OT - PABPN1
+OT - Myopathy
+OT - Oculopharyngeal muscular dystrophy
+OT - Trinucleotide repeat expansion
+COIS- Declarations. Ethics approval and consent to participate: The SMC Institutional
+ Review Board approved the study in accordance with the Declaration of Helsinki
+ (8801-21-SMC). All participants provided written informed consent. The study was
+ registered at ClinicalTrials.gov: ID NCT07146256; Study Start 2022-02-01. Consent
+ for publication: The manuscript contains no individual data. Therefore, in
+ addition to informed consent for participation in the study, no further consent
+ was required. Competing interests: The authors declare that they have no
+ competing interests.
+EDAT- 2026/05/20 06:32
+MHDA- 2026/05/20 06:32
+PMCR- 2026/05/19
+CRDT- 2026/05/20 00:16
+PHST- 2025/12/18 00:00 [received]
+PHST- 2026/03/06 00:00 [accepted]
+PHST- 2026/05/20 06:32 [medline]
+PHST- 2026/05/20 06:32 [pubmed]
+PHST- 2026/05/20 00:16 [entrez]
+PHST- 2026/05/19 00:00 [pmc-release]
+AID - 10.1186/s13023-026-04313-6 [pii]
+AID - 4313 [pii]
+AID - 10.1186/s13023-026-04313-6 [doi]
+PST - epublish
+SO - Orphanet J Rare Dis. 2026 May 19;21(1):203. doi: 10.1186/s13023-026-04313-6.
+
+PMID- 42143119
+OWN - NLM
+STAT- Publisher
+LR - 20260516
+IS - 2045-2322 (Electronic)
+IS - 2045-2322 (Linking)
+DP - 2026 May 16
+TI - Prevalence and carrier frequency of Canavan disease in a South Indian community
+ with implications for research and public health.
+LID - 10.1038/s41598-026-52947-0 [doi]
+AB - Canavan disease (CD) is a progressive leukodystrophy characterized by the spongy
+ degeneration of white matter in the brain. Only three reports from India have
+ been elucidated the ASPA gene mutation in patients diagnosed with CD. At our
+ center, two genetically confirmed cases of juvenile Canavan disease have been
+ identified. Both patients possess a novel genetic variant in the ASPA gene,
+ c.526G > A (p. Gly176Ser), which has been classified as pathogenic. A preliminary
+ study conducted at our centre suggested the presence of a founder effect within
+ this population. Hence, the current study aimed to analyse the cross-sectional
+ prevalence and carrier frequency of the disease and confirm the founder effect.
+ Five hundred seventy-five blood samples were collected from individuals in this
+ community after obtaining informed, written consent. The ASPA gene, specifically
+ exon 3, was analysed utilizing an in-house developed, cost-effective
+ allele-specific PCR approach in all samples. Three short tandem repeat (STR)
+ markers-D17S1828, D17S919, and D17S1298-were employed to examine the founder
+ effect of the mutation by fragment analysis. The carrier frequency in our study
+ population was found to be 1 in 23, higher than that reported in the Jewish
+ population. The allele-specific PCR technique proved to be sensitive and
+ cost-effective for mass screening. All identified carriers displayed specific
+ variations in the 23 heterozygous allelic repeats. At the same time, the affected
+ individuals manifested homozygous alleles for the D17S1828 marker, confirming
+ that this variant is indigenous to the population under study. The D17S919 marker
+ (18/19 repeats) was absent in the control cohort but present in the community
+ under investigation, further substantiating the founder effect. Furthermore, the
+ study identified other potential genetic disorders in this community that warrant
+ further investigation. This study underscores the critical importance of carrier
+ screening in communities characterized by high consanguinity to mitigate the
+ prevalence of recessive disorders in future generations. The elevated carrier
+ frequency observed in this community relative to that in Ashkenazi Jews points to
+ a potential underestimation of prevalence, this might be due to the limited
+ number of community-based studies conducted on rare diseases.
+CI - (c) 2026. The Author(s).
+FAU - Aaron, Rekha
+AU - Aaron R
+AUID- ORCID: 0000-0002-6376-8071
+AD - Department of Clinical Genetics, Christian Medical College, Vellore, Tamilnadu,
+ India. rekha.a@cmcvellore.ac.in.
+FAU - Chapla, Aaron
+AU - Chapla A
+AD - Department of Endocrinology, Christian Medical College, Vellore, Tamilnadu,
+ India.
+FAU - Jayaprabha, M
+AU - Jayaprabha M
+AD - Department of Clinical Genetics, Christian Medical College, Vellore, Tamilnadu,
+ India.
+FAU - Elangovan, Janane
+AU - Elangovan J
+AD - Department of Clinical Genetics, Christian Medical College, Vellore, Tamilnadu,
+ India.
+AD - Department of Obstetrics & Gynecology, Coimbatore Medical College, Coimbatore,
+ India.
+FAU - Chellappa, Roopa Kunthavai
+AU - Chellappa RK
+AD - Department of Clinical Genetics, Christian Medical College, Vellore, Tamilnadu,
+ India.
+AD - Department of Orthodontics , Government Dental College & Hospital, Chidambaram,
+ India.
+FAU - Krishnamurthy, Asha
+AU - Krishnamurthy A
+AD - Department of Clinical Genetics, Christian Medical College, Vellore, Tamilnadu,
+ India.
+AD - Department of Anatomy, ESIC Medical college & Hospital, Indore, India.
+FAU - Raghavan, Ramya
+AU - Raghavan R
+AD - Department of Clinical Genetics, Christian Medical College, Vellore, Tamilnadu,
+ India.
+FAU - Peters, Mrinalini
+AU - Peters M
+AD - Department of Clinical Genetics, Christian Medical College, Vellore, Tamilnadu,
+ India.
+FAU - Thomas, Maya
+AU - Thomas M
+AD - Department of Neurological Sciences, Christian Medical College, Vellore,
+ Tamilnadu, India.
+FAU - Danda, Sumita
+AU - Danda S
+AD - Department of Clinical Genetics, Christian Medical College, Vellore, Tamilnadu,
+ India.
+LA - eng
+PT - Journal Article
+DEP - 20260516
+PL - England
+TA - Sci Rep
+JT - Scientific reports
+JID - 101563288
+SB - IM
+OTO - NOTNLM
+OT - Canavan disease
+OT - Carrier
+OT - Founder effect
+OT - Haplotype
+OT - Population
+OT - Prevalence
+COIS- Declarations. Competing interests: The authors declare no competing interests.
+EDAT- 2026/05/17 06:29
+MHDA- 2026/05/17 06:29
+CRDT- 2026/05/16 23:16
+PHST- 2024/11/27 00:00 [received]
+PHST- 2026/05/08 00:00 [accepted]
+PHST- 2026/05/17 06:29 [medline]
+PHST- 2026/05/17 06:29 [pubmed]
+PHST- 2026/05/16 23:16 [entrez]
+AID - 10.1038/s41598-026-52947-0 [pii]
+AID - 10.1038/s41598-026-52947-0 [doi]
+PST - aheadofprint
+SO - Sci Rep. 2026 May 16. doi: 10.1038/s41598-026-52947-0.
+
+PMID- 42137210
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260515
+LR - 20260515
+IS - 1664-462X (Print)
+IS - 1664-462X (Electronic)
+IS - 1664-462X (Linking)
+VI - 17
+DP - 2026
+TI - Catalytic mechanism and transcriptional regulation of AtsTPS2 involved in
+ germacrene A biosynthesis in Acorus tatarinowii.
+PG - 1761957
+LID - 10.3389/fpls.2026.1761957 [doi]
+LID - 1761957
+AB - Acorus tatarinowii Schott is a traditional medicinal plant valued for its
+ mosquito-repellent properties, which are attributed to its terpenoid
+ constituents. HS-SPME-GC-MS analysis of different tissues and developmental
+ stages revealed a complex volatile profile, with multiple terpenoids detected in
+ the samples. Genome-wide characterization of the terpene synthase (TPS) family
+ revealed that the TPS-a subfamily forms a gene cluster on chromosome 6, likely
+ resulting from tandem duplication events followed by relaxed selection pressure
+ in tandem repeat regions. Functional assays showed that only AtsTPS2 and AtsTPS8
+ exhibit sesquiterpene synthase activity. Under HS-SPME-GC-MS conditions, AtsTPS8
+ produced germacrene B (which is detected as gamma-elemene), whereas AtsTPS2 produced
+ germacrene A (which is detected as beta-elemene), these detected signals were
+ interpreted as products of heat-induced rearrangement during analysis. AtsTPS2
+ was selected for further study. Site-directed mutagenesis identified Lys461 as a
+ critical residue regulating catalytic efficiency; compared with the wild type,
+ the K461A mutant increased the yield of the detected product by 145%. Transient
+ overexpression of AtsTPS2 in A. tatarinowii led to a 2.02-fold increase in the
+ abundance of the detected product peak, and increased mosquito repellency to 83%.
+ Furthermore, the MYC family transcription factor AtsMYC5 was found to repress
+ AtsTPS2 expression by directly binding to its promoter. This study identifies
+ AtsTPS2 as a sesquiterpene synthase in A. tatarinowii, clarifies its catalytic
+ properties and AtsMYC5-mediated transcriptional regulation, and suggests that the
+ corresponding sesquiterpene pathway contributes to mosquito repellency in this
+ species.
+CI - Copyright (c) 2026 Peng, Chu, Bai, Wang, Li, Sun, Liu and Fan.
+FAU - Peng, Fayuan
+AU - Peng F
+AD - School of Life Sciences, Anhui Agricultural University, Hefei, China.
+FAU - Chu, Jin
+AU - Chu J
+AD - School of Life Sciences, Anhui Agricultural University, Hefei, China.
+FAU - Bai, Xiaofen
+AU - Bai X
+AD - School of Life Sciences, Anhui Agricultural University, Hefei, China.
+FAU - Wang, Bo
+AU - Wang B
+AD - School of Life Sciences, Anhui Agricultural University, Hefei, China.
+FAU - Li, Jie
+AU - Li J
+AD - Jinzhai County Traditional Chinese Medicine Industry Development Center,
+ Lu'an, China.
+AD - Integrated Experimental Station in Dabie Mountains, Anhui Agricultural
+ University, Lu'an, China.
+FAU - Sun, Xu
+AU - Sun X
+AD - School of Life Sciences, Anhui Agricultural University, Hefei, China.
+FAU - Liu, Lin
+AU - Liu L
+AD - School of Life Sciences, Anhui Agricultural University, Hefei, China.
+AD - Integrated Experimental Station in Dabie Mountains, Anhui Agricultural
+ University, Lu'an, China.
+FAU - Fan, Honghong
+AU - Fan H
+AD - School of Life Sciences, Anhui Agricultural University, Hefei, China.
+AD - Integrated Experimental Station in Dabie Mountains, Anhui Agricultural
+ University, Lu'an, China.
+LA - eng
+PT - Journal Article
+DEP - 20260429
+PL - Switzerland
+TA - Front Plant Sci
+JT - Frontiers in plant science
+JID - 101568200
+PMC - PMC13168051
+OTO - NOTNLM
+OT - Acorus tatarinowii
+OT - AtsMYC5
+OT - germacrene A
+OT - insect repellency
+OT - terpene synthase
+COIS- The author(s) declared that this work was conducted in the absence of any
+ commercial or financial relationships that could be construed as a potential
+ conflict of interest.
+EDAT- 2026/05/15 06:29
+MHDA- 2026/05/15 06:30
+PMCR- 2026/04/29
+CRDT- 2026/05/15 04:50
+PHST- 2025/12/06 00:00 [received]
+PHST- 2026/03/11 00:00 [revised]
+PHST- 2026/04/17 00:00 [accepted]
+PHST- 2026/05/15 06:30 [medline]
+PHST- 2026/05/15 06:29 [pubmed]
+PHST- 2026/05/15 04:50 [entrez]
+PHST- 2026/04/29 00:00 [pmc-release]
+AID - 10.3389/fpls.2026.1761957 [doi]
+PST - epublish
+SO - Front Plant Sci. 2026 Apr 29;17:1761957. doi: 10.3389/fpls.2026.1761957.
+ eCollection 2026.
+
+PMID- 42124407
+OWN - NLM
+STAT- Publisher
+LR - 20260513
+IS - 1556-4029 (Electronic)
+IS - 0022-1198 (Linking)
+DP - 2026 May 12
+TI - Atypical short tandem repeat allelic patterns in a sexual assault case involving
+ hematopoietic stem cell transplantation.
+LID - 10.1111/1556-4029.70361 [doi]
+AB - Short tandem repeat (STR) profiling is a cornerstone of forensic DNA analysis,
+ particularly during criminal investigations. However, certain clinical
+ conditions, such as bone marrow transplantation, can complicate interpretation.
+ To illustrate the impact of allogeneic bone marrow transplantation on forensic
+ STR analysis, this case report details a sexual assault investigation involving a
+ female victim who had previously received a bone marrow transplant from a female
+ donor. A female sexual assault victim underwent forensic examination, during
+ which multiple biological swabs were collected. STR profiling was conducted on
+ the victim's blood, fingernail, buccal, breast, hip, vulvar, vaginal, cervical
+ samples, panty, and brassiere. As conflicting profiles were found, a detailed
+ medical history was collected, and hair follicle analysis was performed to
+ confirm the origin of the STR profiles. Blood STR profiling revealed a single
+ female genotype, while multiple swabs, including vaginal and cervical samples,
+ showed a second female STR profile alongside the first. Notably, the consistency
+ and distribution of the mixed profile across samples reduced the likelihood of
+ laboratory contamination. The medical history of the victim revealed a prior
+ history of allogeneic bone marrow transplant. Hair follicle analysis identified
+ the recipient's original genotype, confirming that the secondary STR profile
+ originated from the donor. Bone marrow transplantation may result in a mixed STR
+ profile, potentially leading to misidentification or misinterpretation of
+ forensic evidence. Awareness of transplant history is crucial during forensic
+ evaluations. However, such clinical history is currently not included in standard
+ sexual-assault evidence forms, underscoring the need for procedural updates.
+CI - (c) 2026 American Academy of Forensic Sciences.
+FAU - Kim, Jeongyong
+AU - Kim J
+AD - DNA Analysis Division, Seoul Institute, National Forensic Service, Seoul,
+ Republic of Korea.
+AD - Department of Biomedical Laboratory Science, Yonsei University Mirae Campus,
+ Wonju, Republic of Korea.
+FAU - Lee, Mu Yeong
+AU - Lee MY
+AD - DNA Analysis Division, Seoul Institute, National Forensic Service, Seoul,
+ Republic of Korea.
+FAU - Kim, Dong Woo
+AU - Kim DW
+AD - DNA Analysis Division, Seoul Institute, National Forensic Service, Seoul,
+ Republic of Korea.
+AD - Scripps Korea Antibody Institute, Chuncheon-si, Gangwon-do, Republic of Korea.
+FAU - Moon, Seohyun
+AU - Moon S
+AD - DNA Analysis Division, Seoul Institute, National Forensic Service, Seoul,
+ Republic of Korea.
+LA - eng
+GR - NFS2024DNA03/National Forensic Service/
+PT - Case Reports
+PT - Journal Article
+DEP - 20260512
+PL - United States
+TA - J Forensic Sci
+JT - Journal of forensic sciences
+JID - 0375370
+SB - IM
+OTO - NOTNLM
+OT - bone marrow transplantation
+OT - chimerism
+OT - forensic data interpretation
+OT - hematopoietic stem cell transplantation
+OT - sexual assault
+OT - short tandem repeat
+EDAT- 2026/05/13 06:32
+MHDA- 2026/05/13 06:32
+CRDT- 2026/05/13 02:23
+PHST- 2026/03/13 00:00 [revised]
+PHST- 2026/01/30 00:00 [received]
+PHST- 2026/04/29 00:00 [accepted]
+PHST- 2026/05/13 06:32 [medline]
+PHST- 2026/05/13 06:32 [pubmed]
+PHST- 2026/05/13 02:23 [entrez]
+AID - 10.1111/1556-4029.70361 [doi]
+PST - aheadofprint
+SO - J Forensic Sci. 2026 May 12. doi: 10.1111/1556-4029.70361.
+
+PMID- 42105168
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260509
+LR - 20260512
+IS - 1473-4230 (Electronic)
+IS - 1473-4222 (Print)
+IS - 1473-4222 (Linking)
+VI - 25
+IP - 3
+DP - 2026 May 9
+TI - Cerebello-Brainstem Dominant Form of X-linked Adrenoleukodystrophy Without
+ Apparent Brain MRI Abnormalities at Disease Onset.
+LID - 10.1007/s12311-026-02018-x [doi]
+LID - 77
+AB - Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy (X-ALD) is a
+ rare adult-onset phenotype that typically presents with slowly progressive
+ spasticity and cerebellar ataxia. This phenotype can exhibit no apparent
+ parenchymal signal abnormalities on brain MRI, thereby mimicking spinocerebellar
+ ataxia. We encountered a 48-year-old Japanese man who developed slowly
+ progressive spasticity and cerebellar ataxia beginning at age 35. Brain MRI
+ performed 4 years later revealed only subtle cerebellar atrophy. Repeat-expansion
+ testing identified an intermediate-length ATXN3 allele with 49 CAG repeats, and
+ he received a provisional diagnosis of spinocerebellar ataxia type 3. Thirteen
+ years after onset, follow-up MRI revealed new bilateral T2 hyperintensities in
+ frontopontine fibers and cerebellar white matter. Markedly elevated
+ very-long-chain fatty acid levels in plasma and a pathogenic ABCD1 variant
+ confirmed the diagnosis of cerebello-brainstem dominant form of X-ALD. Detailed
+ assessment identified compensated adrenal insufficiency, and his mother displayed
+ mild neurologic symptoms, suggesting symptomatic carriage. This case highlights
+ the importance of careful evaluation for adrenal insufficiency and a detailed
+ family history assessment to detect subtle X-linked features in recognizing
+ cerebello-brainstem dominant form of X-ALD in patients with progressive ataxia.
+ It also suggests that longitudinal brain MRI can provide important diagnostic
+ clues in patients with undiagnosed progressive ataxia, as characteristic
+ demyelinating lesions along the frontopontine tract might emerge over time.
+ Furthermore, because intermediate alleles in polyglutamine diseases are
+ low-penetrance variants present in the general population, clinicians should
+ avoid premature diagnostic closure and maintain careful diagnostic follow-up when
+ encountering this finding to avoid missing treatable alternatives.
+CI - (c) 2026. The Author(s).
+FAU - Nakagawa, Yuki
+AU - Nakagawa Y
+AD - Department of Neurology, Graduate School of Medicine, Chiba University, 1-8-1
+ Inohana, Chuo-ku, Chiba, 260-8677, Japan.
+FAU - Sugiyama, Atsuhiko
+AU - Sugiyama A
+AUID- ORCID: 0000-0003-0705-9892
+AD - Department of Neurology, Graduate School of Medicine, Chiba University, 1-8-1
+ Inohana, Chuo-ku, Chiba, 260-8677, Japan. asugiyama@chiba-u.jp.
+FAU - Shibuya, Kazumoto
+AU - Shibuya K
+AD - Department of Neurology, Graduate School of Medicine, Chiba University, 1-8-1
+ Inohana, Chuo-ku, Chiba, 260-8677, Japan.
+FAU - Yokota, Hajime
+AU - Yokota H
+AD - Department of Diagnostic Radiology and Radiation Oncology, Graduate School of
+ Medicine, Chiba University, Chiba, Japan.
+FAU - Matsukawa, Takashi
+AU - Matsukawa T
+AD - Department of Neurology, Graduate School of Medicine, The University of Tokyo,
+ Tokyo, Japan.
+FAU - Ishiwata, Kazuki
+AU - Ishiwata K
+AD - Department of Endocrinology, Hematology and Gerontology, Graduate School of
+ Medicine, Chiba University, Chiba, Japan.
+FAU - Mori, Masahiro
+AU - Mori M
+AD - Department of Neurology, Graduate School of Medicine, Chiba University, 1-8-1
+ Inohana, Chuo-ku, Chiba, 260-8677, Japan.
+LA - eng
+PT - Case Reports
+PT - Journal Article
+DEP - 20260509
+PL - United States
+TA - Cerebellum
+JT - Cerebellum (London, England)
+JID - 101089443
+RN - 0 (ATP Binding Cassette Transporter, Subfamily D, Member 1)
+RN - 0 (ABCD1 protein, human)
+SB - IM
+MH - Humans
+MH - *Adrenoleukodystrophy/diagnostic imaging/genetics/pathology
+MH - Male
+MH - Magnetic Resonance Imaging
+MH - Middle Aged
+MH - *Cerebellum/diagnostic imaging/pathology
+MH - *Brain Stem/diagnostic imaging/pathology
+MH - ATP Binding Cassette Transporter, Subfamily D, Member 1/genetics
+MH - *Brain/diagnostic imaging
+PMC - PMC13157408
+OTO - NOTNLM
+OT - Adrenoleukodystrophy
+OT - Case Reports
+OT - Magnetic Resonance Imaging
+OT - Spinocerebellar Ataxias
+COIS- Declarations. Ethical approval: Approval for case reports is not required by the
+ Institutional Review Board of Chiba University Graduate School of Medicine. This
+ study followed the ethical guidelines of the Declaration of Helsinki. Consent to
+ participate: Written informed consent was obtained from the patient for this case
+ report. Consent to publish: Written informed consent was obtained from the
+ patient for the publication of this case report and the accompanying images.
+ Competing interests: The authors declare no competing interests.
+EDAT- 2026/05/10 05:15
+MHDA- 2026/05/10 05:16
+PMCR- 2026/05/09
+CRDT- 2026/05/09 11:16
+PHST- 2026/03/10 00:00 [received]
+PHST- 2026/04/28 00:00 [accepted]
+PHST- 2026/05/10 05:16 [medline]
+PHST- 2026/05/10 05:15 [pubmed]
+PHST- 2026/05/09 11:16 [entrez]
+PHST- 2026/05/09 00:00 [pmc-release]
+AID - 10.1007/s12311-026-02018-x [pii]
+AID - 2018 [pii]
+AID - 10.1007/s12311-026-02018-x [doi]
+PST - epublish
+SO - Cerebellum. 2026 May 9;25(3):77. doi: 10.1007/s12311-026-02018-x.
+
+PMID- 42105155
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260509
+LR - 20260509
+IS - 1473-4230 (Electronic)
+IS - 1473-4222 (Linking)
+VI - 25
+IP - 3
+DP - 2026 May 9
+TI - Abnormal Amyloidogenesis Identified in Plasma of Patients with Spinocerebellar
+ Ataxia Type 12.
+LID - 75 [pii]
+LID - 10.1007/s12311-026-02015-0 [doi]
+AB - Spinocerebellar ataxia type 12 (SCA12), a progressive neurological disorder, is
+ the second-most common autosomal dominant ataxia in India. The disease is
+ clinically heterogeneous with a variable age-of-onset. A CAG repeat expansion
+ mutation upstream of PPP2R2B gene is causal to SCA12 motor and non-motor symptoms
+ but its pathophysiological significance remains unknown. PPP2R2B encodes for the
+ regulatory subunit B of the protein phosphatase 2 A (PP2A), a major regulator of
+ amyloid beta (Abeta) and tau proteins. We aimed to determine whether PPP2R2B
+ mutation leads to Abeta and tau dysregulation in SCA12. Plasma Abeta42/Abeta40 ratio, a
+ core biomarker for Abeta toxicity and cognitive impairment was further investigated.
+ This cross-sectional study included 27 genetically confirmed SCA12 patients and
+ 24 healthy controls. The patients were subjected to ICARS and MoCA clinical
+ scales for disease severity and cognition respectively. Plasma levels for Abeta42,
+ Abeta40, total tau (t-tau) and phosphorylated tau (p-tau) levels were estimated
+ spectrophotometrically using validated ELISA kits. A significant decrease in the
+ plasma Abeta40 level (p = 0.014) and an increase in the Abeta42/Abeta40 ratio (p = 0.007)
+ was observed in SCA12. Total tau and p-tau levels were unchanged. No significant
+ correlation of the plasma Abeta and tau proteins with clinical parameters was
+ obtained. In SCA12, we identified an altered plasma Abeta profile indicative of
+ abnormal peripheral amyloidogenesis. Plasma Abeta and tau concentrations were not
+ correlated with the patients' cognitive status. The dynamic ratiometric Abeta42/Abeta40
+ shift in plasma is a forerunner of Abeta neurotoxicity and opens novel avenues for
+ Abeta-targeted therapy in SCA12.
+CI - (c) 2026. The Author(s), under exclusive licence to Springer Science+Business
+ Media, LLC, part of Springer Nature.
+FAU - Banerjee, Rebecca
+AU - Banerjee R
+AD - Department of Neurology, Institute of Neurosciences Kolkata (I-NK), 185/1 AJC
+ Bose Road, Kolkata, 700017, West Bengal, India.
+FAU - Sengupta, Swarnava
+AU - Sengupta S
+AD - Department of Neurology, Institute of Neurosciences Kolkata (I-NK), 185/1 AJC
+ Bose Road, Kolkata, 700017, West Bengal, India.
+FAU - Rungta, Jyoti
+AU - Rungta J
+AD - Department of Neurology, Institute of Neurosciences Kolkata (I-NK), 185/1 AJC
+ Bose Road, Kolkata, 700017, West Bengal, India.
+FAU - Ansari, Sabbir
+AU - Ansari S
+AD - Department of Neurology, Institute of Neurosciences Kolkata (I-NK), 185/1 AJC
+ Bose Road, Kolkata, 700017, West Bengal, India.
+FAU - Banerjee, Sattwika
+AU - Banerjee S
+AD - Department of Neurology, Institute of Neurosciences Kolkata (I-NK), 185/1 AJC
+ Bose Road, Kolkata, 700017, West Bengal, India.
+FAU - Biswas, Bishmita
+AU - Biswas B
+AD - Department of Neurology, Institute of Neurosciences Kolkata (I-NK), 185/1 AJC
+ Bose Road, Kolkata, 700017, West Bengal, India.
+FAU - Pal, Rakhi
+AU - Pal R
+AD - Center for High Impact Neuroscience and Translational Applications (CHINTA),
+ TCG-CREST, Kolkata, 700091, West Bengal, India.
+AD - Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India.
+FAU - Chattarji, Sumantra
+AU - Chattarji S
+AD - Center for High Impact Neuroscience and Translational Applications (CHINTA),
+ TCG-CREST, Kolkata, 700091, West Bengal, India.
+FAU - Choudhury, Supriyo
+AU - Choudhury S
+AD - Department of Neurology, Institute of Neurosciences Kolkata (I-NK), 185/1 AJC
+ Bose Road, Kolkata, 700017, West Bengal, India.
+FAU - Kumar, Hrishikesh
+AU - Kumar H
+AD - Department of Neurology, Institute of Neurosciences Kolkata (I-NK), 185/1 AJC
+ Bose Road, Kolkata, 700017, West Bengal, India. rishi_medicine@yahoo.com.
+LA - eng
+GR - IF190863/DST/INSPIRE Fellowship/
+GR - 984(Sanc)/STBT-11012(19)/14/2024-ST SEC/West Bengal Department of Science &
+ Technology and Biotechnology/
+PT - Journal Article
+DEP - 20260509
+PL - United States
+TA - Cerebellum
+JT - Cerebellum (London, England)
+JID - 101089443
+RN - 0 (Amyloid beta-Peptides)
+RN - 0 (tau Proteins)
+RN - 0 (Peptide Fragments)
+RN - EC 3.1.3.16 (Protein Phosphatase 2)
+RN - EC 3.1.3.16 (PPP2R2B protein, human)
+RN - 0 (amyloid beta-protein (1-42))
+RN - 0 (Biomarkers)
+RN - 0 (Nerve Tissue Proteins)
+SB - IM
+MH - Humans
+MH - Male
+MH - Female
+MH - *Amyloid beta-Peptides/blood
+MH - Cross-Sectional Studies
+MH - Middle Aged
+MH - Adult
+MH - *Spinocerebellar Ataxias/blood/genetics
+MH - *tau Proteins/blood
+MH - *Peptide Fragments/blood
+MH - *Protein Phosphatase 2/genetics
+MH - Mutation
+MH - Biomarkers/blood
+MH - Nerve Tissue Proteins
+OTO - NOTNLM
+OT - PPP2R2B
+OT - Amyloidogenesis
+OT - Ass 40
+OT - Ass 42
+OT - SCA12
+OT - Tau
+COIS- Declarations. Human Ethics and Consent to Participate Declaration: This study was
+ approved by the Institutional Ethics Committee (IEC) at I-NK (Protocol no:
+ I-NK/SCA-12/MOL/CELL/Ver.01). Written informed consent was obtained from each
+ participant in accordance to the Declaration of Helsinki. Participants signed
+ informed consent regarding publishing their data. Competing Interests: The
+ authors declare no competing interests.
+EDAT- 2026/05/10 05:16
+MHDA- 2026/05/10 05:17
+CRDT- 2026/05/09 11:15
+PHST- 2025/12/18 00:00 [received]
+PHST- 2026/04/28 00:00 [accepted]
+PHST- 2026/05/10 05:17 [medline]
+PHST- 2026/05/10 05:16 [pubmed]
+PHST- 2026/05/09 11:15 [entrez]
+AID - 10.1007/s12311-026-02015-0 [pii]
+AID - 10.1007/s12311-026-02015-0 [doi]
+PST - epublish
+SO - Cerebellum. 2026 May 9;25(3):75. doi: 10.1007/s12311-026-02015-0.
+
+PMID- 42098162
+OWN - NLM
+STAT- Publisher
+LR - 20260507
+IS - 2041-1723 (Electronic)
+IS - 2041-1723 (Linking)
+DP - 2026 May 8
+TI - Quantification of disease-associated RNA tandem repeats by nanopore sensing.
+LID - 10.1038/s41467-026-72819-5 [doi]
+AB - Short tandem repeat expansions underlie a class of neurological and neuromuscular
+ diseases known as repeat expansion disorders, yet the precise characterisation of
+ these repeats remains technically challenging. Conventional amplification-based
+ methods fail to resolve repeat length accurately due to amplification bias and
+ sequence homogeneity. Here, we present a single-molecule nanopore-based strategy
+ that enables direct quantification of tandem repeats in native RNA. By assembling
+ RNA:DNA nanostructures that encode specific repeat number, we achieve repeat size
+ discrimination with a resolution of 18 nucleotides. Using tandem
+ repeat-containing RNA, we successfully detect and discriminate disease-relevant
+ repeat lengths associated with myotonic dystrophy types 1 (DM1) and 2 (DM2), and
+ congenital central hypoventilation syndrome-1. Finally, we apply our method to
+ total RNA extracted from a DM1 human cell line model, demonstrating its
+ compatibility with complex biological samples. Our approach offers a platform for
+ studying repeat expansion biology at the single-molecule level, with broad
+ implications for diagnostics, clinical research and multiplexed repeat profiling.
+CI - (c) 2026. The Author(s).
+FAU - Patino-Guillen, Gerardo
+AU - Patino-Guillen G
+AD - Cavendish Laboratory, University of Cambridge, Cambridge, UK.
+FAU - Pesovic, Jovan
+AU - Pesovic J
+AD - University of Belgrade-Faculty of Biology, Centre for Human Molecular Genetics,
+ Belgrade, Serbia.
+FAU - Panic, Marko
+AU - Panic M
+AD - Institute of Virology, Vaccines and Sera "Torlak", Belgrade, Serbia.
+FAU - Earle, Max
+AU - Earle M
+AD - Cavendish Laboratory, University of Cambridge, Cambridge, UK.
+FAU - Ninkovic, Anastasija
+AU - Ninkovic A
+AUID- ORCID: 0009-0007-6010-9621
+AD - University of Belgrade-Faculty of Biology, Centre for Human Molecular Genetics,
+ Belgrade, Serbia.
+FAU - Petrusca, Sergiu
+AU - Petrusca S
+AUID- ORCID: 0009-0003-0792-9242
+AD - Cavendish Laboratory, University of Cambridge, Cambridge, UK.
+FAU - Savic-Pavicevic, Dusanka
+AU - Savic-Pavicevic D
+AD - University of Belgrade-Faculty of Biology, Centre for Human Molecular Genetics,
+ Belgrade, Serbia. duska@bio.bg.ac.rs.
+FAU - Keyser, Ulrich F
+AU - Keyser UF
+AUID- ORCID: 0000-0003-3188-5414
+AD - Cavendish Laboratory, University of Cambridge, Cambridge, UK. fnb24@cam.ac.uk.
+FAU - Boskovic, Filip
+AU - Boskovic F
+AUID- ORCID: 0000-0001-7663-2408
+AD - Cavendish Laboratory, University of Cambridge, Cambridge, UK. ufk20@cam.ac.uk.
+LA - eng
+GR - EP/S022953/1/RCUK | Engineering and Physical Sciences Research Council (EPSRC)/
+GR - 964995/EC | Horizon 2020 Framework Programme (EU Framework Programme for Research
+ and Innovation H2020)/
+GR - 964995/EC | Horizon 2020 Framework Programme (EU Framework Programme for Research
+ and Innovation H2020)/
+PT - Journal Article
+DEP - 20260508
+PL - England
+TA - Nat Commun
+JT - Nature communications
+JID - 101528555
+SB - IM
+COIS- Competing interests: F.B. and U.F.K. are inventors of two patents related to RNA
+ characterisation with nanopores (UK patent application no. 2113935.7, in process;
+ UK Patent application nos. 2112088.6 and PCT/GB2022/052171, in process) submitted
+ by Cambridge Enterprise on behalf of the University of Cambridge. U.F.K. is a
+ co-founder of Cambridge Nucleomics. The remaining authors declare no competing
+ interests.
+EDAT- 2026/05/08 00:32
+MHDA- 2026/05/08 00:32
+CRDT- 2026/05/07 23:17
+PHST- 2025/06/16 00:00 [received]
+PHST- 2026/04/24 00:00 [accepted]
+PHST- 2026/05/08 00:32 [medline]
+PHST- 2026/05/08 00:32 [pubmed]
+PHST- 2026/05/07 23:17 [entrez]
+AID - 10.1038/s41467-026-72819-5 [pii]
+AID - 10.1038/s41467-026-72819-5 [doi]
+PST - aheadofprint
+SO - Nat Commun. 2026 May 8. doi: 10.1038/s41467-026-72819-5.
+
+PMID- 42096001
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260507
+LR - 20260510
+IS - 1473-4230 (Electronic)
+IS - 1473-4222 (Print)
+IS - 1473-4222 (Linking)
+VI - 25
+IP - 3
+DP - 2026 May 7
+TI - Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed
+ Cerebellar Ataxia - A Preliminary Study.
+LID - 10.1007/s12311-026-02003-4 [doi]
+LID - 73
+AB - Spinocerebellar ataxia type 27B (SCA27B), caused by an intronic GAA repeat
+ expansion in the FGF14 gene, has recently emerged as a major cause of late-onset
+ cerebellar ataxia (LOCA). Its prevalence and clinical profile in Central and
+ Eastern Europe remain largely unknown. To determine the frequency and phenotypic
+ characteristics of FGF14 GAA.TTC repeat expansions, a large cohort of Polish
+ patients with undiagnosed adult-onset cerebellar ataxia was investigated. We
+ retrospectively analyzed 701 patients (age of onset >/= 25 years) with adult-onset
+ cerebellar ataxia of unknown etiology, previously tested negative for SCA1, SCA2,
+ SCA3, SCA8, and RFC1 expansions. GAA.TTC repeat lengths were assessed using
+ long-range and repeat-primed PCR. Expansions >/= 250 repeats were classified as
+ pathogenic. Clinical and MRI data were evaluated where available. A control group
+ of 66 neurologically healthy individuals was also screened. Pathogenic FGF14
+ expansions (>/= 250 repeats) were identified in 4.4% (31/701) of patients,
+ including 23 with fully penetrant (>/= 300) and 8 with incompletely penetrant
+ (250-299) alleles. No pathogenic expansions were found in controls. The mean age
+ of onset was 49.8 years. Common symptoms included balance and gait disturbances,
+ cerebellar syndrome, and episodic features such as diplopia. Cerebellar atrophy
+ was present in 45% of patients with available MRI. No significant correlation
+ between repeat length and age of onset was observed. Our findings confirm that
+ FGF14 repeat expansions are an underrecognized cause of LOCA in Poland and
+ support their inclusion in standard genetic testing for adult-onset ataxias.
+ Further studies are warranted to better define penetrance and genotype-phenotype
+ correlations.
+CI - (c) 2026. The Author(s).
+FAU - Matlawska, Marta
+AU - Matlawska M
+AUID- ORCID: 0000-0003-4310-5091
+AD - Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 ,
+ 02-957, Warsaw, Poland. mmatlawska@ipin.edu.pl.
+FAU - Ziora-Jakutowicz, Karolina
+AU - Ziora-Jakutowicz K
+AD - Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 ,
+ 02-957, Warsaw, Poland.
+FAU - Dicaire, Marie-Josee
+AU - Dicaire MJ
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+FAU - Pera, Joanna
+AU - Pera J
+AD - Department of Neurology, Jagiellonian University Medical College, Krakow, Poland.
+FAU - Pellerin, David
+AU - Pellerin D
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
+ London and The National Hospital for Neurology and Neurosurgery, University
+ College London, London, United Kingdom.
+FAU - Brais, Bernard
+AU - Brais B
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+FAU - Iruzubieta, Pablo
+AU - Iruzubieta P
+AD - Department of Neurology and Neurosurgery, Montreal Neurological Institute-
+ Hospital, McGill University, Montreal, Quebec, Canada.
+FAU - Elert-Dobkowska, Ewelina
+AU - Elert-Dobkowska E
+AD - Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 ,
+ 02-957, Warsaw, Poland.
+FAU - Sulek, Anna
+AU - Sulek A
+AD - Faculty of Medicine, Lazarski University, Warsaw, Poland.
+LA - eng
+PT - Journal Article
+DEP - 20260507
+PL - United States
+TA - Cerebellum
+JT - Cerebellum (London, England)
+JID - 101089443
+RN - 62031-54-3 (Fibroblast Growth Factors)
+RN - 0 (fibroblast growth factor 14)
+SB - IM
+MH - Humans
+MH - Male
+MH - Female
+MH - Middle Aged
+MH - *Fibroblast Growth Factors/genetics
+MH - Poland/epidemiology
+MH - Adult
+MH - *Cerebellar Ataxia/genetics/diagnosis/epidemiology
+MH - Aged
+MH - Retrospective Studies
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Age of Onset
+MH - Magnetic Resonance Imaging
+PMC - PMC13152904
+OTO - NOTNLM
+OT - FGF14 expansion
+OT - Neurodegenerative disorders
+OT - SCA27B
+OT - Spinocerebellar ataxia
+COIS- Declarations. Human Ethics and Consent to Participate: The study was conducted in
+ accordance with the Declaration of Helsinki and its subsequent amendments. The
+ protocol was approved by the Local Bioethics Committee at the Institute of
+ Psychiatry and Neurology in Warsaw (resolution no. 30/2021 November 17, 2021).
+ Consents to Participate: Informed consent was obtained from all individual
+ participants included in the study. Competing Interests: The authors declare no
+ competing interests.
+EDAT- 2026/05/07 12:36
+MHDA- 2026/05/07 12:37
+PMCR- 2026/05/07
+CRDT- 2026/05/07 11:08
+PHST- 2025/09/07 00:00 [received]
+PHST- 2026/04/09 00:00 [accepted]
+PHST- 2026/05/07 12:37 [medline]
+PHST- 2026/05/07 12:36 [pubmed]
+PHST- 2026/05/07 11:08 [entrez]
+PHST- 2026/05/07 00:00 [pmc-release]
+AID - 10.1007/s12311-026-02003-4 [pii]
+AID - 2003 [pii]
+AID - 10.1007/s12311-026-02003-4 [doi]
+PST - epublish
+SO - Cerebellum. 2026 May 7;25(3):73. doi: 10.1007/s12311-026-02003-4.
+
+PMID- 42095061
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260507
+LR - 20260507
+IS - 1663-4365 (Print)
+IS - 1663-4365 (Electronic)
+IS - 1663-4365 (Linking)
+VI - 18
+DP - 2026
+TI - Systematic proteomics reveals plasma NEFL as a robust predictor and pathological
+ associate in C9ORF72-related neurodegeneration.
+PG - 1792887
+LID - 10.3389/fnagi.2026.1792887 [doi]
+LID - 1792887
+AB - BACKGROUND: The C9ORF72 repeat expansion is the most common genetic cause of
+ amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). While
+ neurofilament light chain (NEFL) is an established biomarker of neuroaxonal
+ damage, its specific dose-response relationship with the C9ORF72 expansion and
+ its potential role beyond a passive bystander require systematic investigation.
+ We performed a proteome-wide screen to identify plasma proteins linked to the
+ C9ORF72 expansion and evaluated their predictive value for motor neuron disease
+ (MND). METHODS: We utilized whole-genome sequencing and plasma proteomics from
+ the UK Biobank, analyzing 106 individuals with C9ORF72 expansions (defined as >30
+ repeats) and 212 age- and sex-matched controls. We screened ~3,000 proteins for
+ associations with the continuous repeat count. The top candidate was evaluated
+ using restricted cubic splines (RCS) to assess non-linearity and threshold
+ effects. Its ability to independently predict MND risk was tested using
+ regression models and a machine learning approach. RESULTS: Our unbiased screen
+ identified NEFL as the sole protein significantly associated with the C9ORF72
+ repeat count (FDR-adjusted P = 8.39 x 10(-4)). NEFL levels demonstrated a
+ step-wise increase with expansion size, which followed a stable linear trajectory
+ across the repeat spectrum (P (non - linear) = 0.4435). Elevated NEFL
+ independently predicted MND risk (OR = 2.42; HR = 2.90), even after adjusting for
+ the C9ORF72 repeat count. Our predictive model, combining NEFL and repeat count,
+ achieved an AUC of 0.941 with 100% sensitivity. These findings align with
+ emerging evidence that secreted NEFL may actively modulate neuroinflammation.
+ CONCLUSIONS: NEFL emerges as a robust and specific plasma biomarker for
+ C9ORF72-related neurodegeneration. Its strong linear association with repeat
+ burden and independent predictive power, contextualized within its potential role
+ in immune activation, suggest that NEFL is deeply integrated into the C9ORF72
+ pathological landscape. These findings support NEFL-based screening and
+ monitoring strategies for early intervention in C9ORF72 carriers.
+CI - Copyright (c) 2026 Hu, Wan, Yan, Fan and Liu.
+FAU - Hu, Zhen
+AU - Hu Z
+AD - Department of Neurology, Ruijin Hospital Luwan Branch, Shanghai Jiao Tong
+ University School of Medicine, Shanghai, China.
+AD - Department of Neurology and Institute of Neurology, Ruijin Hospital, Shanghai
+ Jiao Tong University School of Medicine, Shanghai, China.
+FAU - Wan, Jing-Jin
+AU - Wan JJ
+AD - Department of Surgery, Renji Hospital, Shanghai Jiao Tong University School of
+ Medicine, Shanghai, China.
+FAU - Yan, Qin-Qin
+AU - Yan QQ
+AD - Department of Radiology, Ruijin Hospital, Shanghai Jiao Tong University School of
+ Medicine, Shanghai, China.
+FAU - Fan, Yu
+AU - Fan Y
+AD - Department of Neurology and Institute of Neurology, Ruijin Hospital, Shanghai
+ Jiao Tong University School of Medicine, Shanghai, China.
+FAU - Liu, Jun
+AU - Liu J
+AD - Department of Neurology and Institute of Neurology, Ruijin Hospital, Shanghai
+ Jiao Tong University School of Medicine, Shanghai, China.
+LA - eng
+PT - Journal Article
+DEP - 20260421
+PL - Switzerland
+TA - Front Aging Neurosci
+JT - Frontiers in aging neuroscience
+JID - 101525824
+PMC - PMC13139100
+OTO - NOTNLM
+OT - C9ORF72
+OT - NEFL
+OT - motor neuron disease (MND)
+OT - neurodegeneration
+OT - repeat expansion
+COIS- The author(s) declared that this work was conducted in the absence of any
+ commercial or financial relationships that could be construed as a potential
+ conflict of interest.
+EDAT- 2026/05/07 06:37
+MHDA- 2026/05/07 06:38
+PMCR- 2026/04/21
+CRDT- 2026/05/07 05:20
+PHST- 2026/01/21 00:00 [received]
+PHST- 2026/03/18 00:00 [revised]
+PHST- 2026/03/31 00:00 [accepted]
+PHST- 2026/05/07 06:38 [medline]
+PHST- 2026/05/07 06:37 [pubmed]
+PHST- 2026/05/07 05:20 [entrez]
+PHST- 2026/04/21 00:00 [pmc-release]
+AID - 10.3389/fnagi.2026.1792887 [doi]
+PST - epublish
+SO - Front Aging Neurosci. 2026 Apr 21;18:1792887. doi: 10.3389/fnagi.2026.1792887.
+ eCollection 2026.
+
+PMID- 42094143
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260525
+LR - 20260525
+DP - 2026 May 1
+TI - Genome-wide detection and clinical prioritization of tandem repeat outliers using
+ long-read sequencing.
+LID - 2026.04.30.26352103 [pii]
+LID - 10.64898/2026.04.30.26352103 [doi]
+AB - BACKGROUND: Tandem repeat expansions (TREs) cause over 60 known neurological,
+ neuromuscular, and developmental disorders. Detecting these expansions
+ genome-wide is challenging due to their size, sequence complexity (including
+ interruptions), and population variation. While long-read sequencing is an
+ emerging technology that can fully resolve many TREs, no methods have been
+ described for genome-wide identification and prioritization of candidate
+ pathogenic TREs with this technology. METHODS: Using a newly developed pipeline
+ called TRoLR (Tandem Repeat outliers identified with Long Reads), we analyzed
+ haplotype-resolved long-read genome assemblies from 471 ancestrally diverse
+ individuals to define population distributions for over three million tandem
+ repeat loci, capturing clinically relevant interruptions. Outlier expansions were
+ identified relative to these distributions and prioritized by genomic location
+ and comparison to known pathogenic loci. The framework was applied to 47 cases
+ from the Undiagnosed Diseases Network. RESULTS: Population stratification of
+ repeat metrics was observed at 7% of loci, with highest variability among
+ individuals of African ancestry. Outlier analysis confirmed known pathogenic CNBP
+ and ATXN8OS expansions, detected carrier-range alleles at RFC1, CSTB, and FXN,
+ and revealed a novel CGG expansion in the 5' UTR of PCMTD2 exhibiting
+ hypermethylation and intergenerational instability. Genome-wide screening also
+ identified intronic pentanucleotide expansions at IQCB1 and MAP3K15 in controls
+ composed of motifs that have been associated with pathogenicity at other disease
+ loci. CONCLUSIONS: Quantifying the longest uninterrupted repeat segment in
+ long-read assemblies enables detection of clinically relevant repeat expansions
+ and loss of stabilizing interruptions. This approach enhances both diagnostic
+ confirmation and discovery of candidate pathogenic expansions, with implications
+ for clinical interpretation and research into complex repeat-mediated disorders.
+FAU - Gibson, Sophia B
+AU - Gibson SB
+AUID- ORCID: 0000-0001-9839-9045
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+FAU - Damaraju, Nikhita
+AU - Damaraju N
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+AD - Institute for Public Health Genetics, University of Washington School of Public
+ Health, Seattle, WA.
+FAU - Gustafson, J Gus
+AU - Gustafson JG
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+AD - Molecular and Cellular Biology Program, University of Washington, Seattle, WA.
+FAU - Balton, Elsa V
+AU - Balton EV
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Chanprasert, Sirisak
+AU - Chanprasert S
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Glass, Ian A
+AU - Glass IA
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+FAU - Horike-Pyne, Martha
+AU - Horike-Pyne M
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Kumar, Runjun D
+AU - Kumar RD
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+FAU - Leppig, Kathleen A
+AU - Leppig KA
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Lundberg, Chris
+AU - Lundberg C
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Ranchalis, Jane
+AU - Ranchalis J
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Rosenthal, Elisabeth A
+AU - Rosenthal EA
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Solomon, Andrew K
+AU - Solomon AK
+AD - Division of Rheumatology, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Stergachis, Andrew B
+AU - Stergachis AB
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Wener, Mark
+AU - Wener M
+AD - Division of Rheumatology, Department of Medicine, University of Washington,
+ Seattle, WA.
+CN - Undiagnosed Diseases Network
+FAU - Jarvik, Gail P
+AU - Jarvik GP
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+FAU - Blue, Elizabeth E
+AU - Blue EE
+AD - Institute for Public Health Genetics, University of Washington School of Public
+ Health, Seattle, WA.
+AD - Division of Medical Genetics, Department of Medicine, University of Washington,
+ Seattle, WA.
+AD - Brotman Baty Institute for Precision Medicine, University of Washington, Seattle,
+ WA.
+FAU - Dipple, Katrina M
+AU - Dipple KM
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Center for Clinical and Translational Research, Seattle Children's Research
+ Institute, Seattle, WA.
+FAU - Dashnow, Harriet
+AU - Dashnow H
+AD - Department of Biomedical Informatics, University of Colorado Anschutz, Aurora,
+ CO.
+FAU - Starita, Lea M
+AU - Starita LM
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Brotman Baty Institute for Precision Medicine, University of Washington, Seattle,
+ WA.
+FAU - Miller, Danny E
+AU - Miller DE
+AUID- ORCID: 0000-0001-6096-8601
+AD - Department of Genome Sciences, University of Washington, Seattle, WA.
+AD - Division of Genetic Medicine, Department of Pediatrics, University of Washington,
+ Seattle, WA.
+AD - Department of Laboratory Medicine and Pathology, University of Washington,
+ Seattle, WA.
+AD - Brotman Baty Institute for Precision Medicine, University of Washington, Seattle,
+ WA.
+LA - eng
+PT - Journal Article
+PT - Preprint
+DEP - 20260501
+PL - United States
+TA - medRxiv
+JT - medRxiv : the preprint server for health sciences
+JID - 101767986
+PMC - PMC13142565
+OTO - NOTNLM
+OT - clinical genomics
+OT - long-read sequencing
+OT - longest pure segment
+OT - outlier detection
+OT - population reference
+OT - repeat expansion disorders
+OT - tandem repeat expansion
+EDAT- 2026/05/07 06:36
+MHDA- 2026/05/07 06:37
+PMCR- 2026/05/05
+CRDT- 2026/05/07 05:10
+PHST- 2026/05/07 06:36 [pubmed]
+PHST- 2026/05/07 06:37 [medline]
+PHST- 2026/05/07 05:10 [entrez]
+PHST- 2026/05/05 00:00 [pmc-release]
+AID - 2026.04.30.26352103 [pii]
+AID - 10.64898/2026.04.30.26352103 [doi]
+PST - epublish
+SO - medRxiv [Preprint]. 2026 May 1:2026.04.30.26352103. doi:
+ 10.64898/2026.04.30.26352103.
+
+PMID- 42070078
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260503
+LR - 20260509
+IS - 1941-5923 (Electronic)
+IS - 1941-5923 (Linking)
+VI - 27
+DP - 2026 May 3
+TI - Progressive Proximal Muscle Weakness Due to a 51 CAG Repeat Expansion in Exon 1
+ of the Androgen Receptor Gene: A Case Report of Kennedy Disease.
+PG - e951080
+LID - 10.12659/AJCR.951080 [doi]
+LID - e951080
+AB - BACKGROUND Kennedy disease, also known as spinal and bulbar muscular atrophy
+ (SBMA), is a rare and incurable X-linked neuromuscular disorder mainly affecting
+ men aged 30 to 60 years. Polymyositis can present similarly, but can be excluded
+ by measuring muscle enzymes, performing muscle imaging, and electromyography.
+ This report describes the case of a 52-year-old man with a 10-year history of
+ progressive limb weakness due to Kennedy disease, established by genetic testing.
+ CASE REPORT A 52-year-old man presented with a 10-year history of gradually
+ progressive proximal limb weakness and persistently elevated creatine kinase
+ levels ranging from 808-2300 U/L (normal 39-308 U/L). One year prior to this
+ admission, the limb weakness had worsened, but initial electromyography,
+ neuroimaging, and muscle biopsy showed no specific abnormalities. Despite a trial
+ of immunosuppressive therapy due to suspected polymyositis, there was no clinical
+ improvement. Neurological examination later revealed gynecomastia, proximal
+ muscle atrophy, and bilateral tongue atrophy with tremor. Electromyography showed
+ chronic neurogenic changes and reduced sensory nerve action potentials. Repeat
+ expansion analysis identified a hemizygous pathogenic CAG repeat expansion in
+ exon 1 of the androgen receptor gene using a short-read next-generation
+ sequencing-based repeat detection algorithm (ExpansionHunter), with an estimated
+ repeat number of 51 (range 50-53). At 6-month follow-up, the patient demonstrated
+ mild progression of motor symptoms but remained functionally stable. CONCLUSIONS
+ This report presents a rare case of Kennedy disease, initially diagnosed as
+ polymyositis, and highlights the importance of follow-up with genetic testing
+ when neurological and electromyography investigations are not typical for
+ polymyositis. Early identification of Kennedy disease helps avoid unnecessary
+ immunosuppressive treatments.
+FAU - Thi Tuong Vi, Nguyen
+AU - Thi Tuong Vi N
+AD - College of Health Sciences, VinUniversity, Hanoi, Vietnam.
+FAU - Huu Thanh, Nguyen
+AU - Huu Thanh N
+AD - College of Health Sciences, VinUniversity, Hanoi, Vietnam.
+AD - Department of Gastroenterology, Vinmec Times City International Hospital, Hanoi,
+ Vietnam.
+FAU - Thi Bien, Dong
+AU - Thi Bien D
+AD - Department of Neurology, 108 Military Central Hospital, Hanoi, Vietnam.
+FAU - Hong Quan, Nguyen
+AU - Hong Quan N
+AD - Department of Neurology, 108 Military Central Hospital, Hanoi, Vietnam.
+LA - eng
+PT - Case Reports
+PT - Journal Article
+DEP - 20260503
+PL - United States
+TA - Am J Case Rep
+JT - The American journal of case reports
+JID - 101489566
+RN - 0 (Receptors, Androgen)
+SB - IM
+MH - Humans
+MH - Male
+MH - *Bulbo-Spinal Atrophy, X-Linked/genetics/diagnosis
+MH - Middle Aged
+MH - *Receptors, Androgen/genetics
+MH - *Muscle Weakness/etiology/genetics
+MH - Electromyography
+MH - Exons
+MH - *Trinucleotide Repeat Expansion
+PMC - PMC13151774
+COIS- Conflict of interest: None declared
+EDAT- 2026/05/03 06:37
+MHDA- 2026/05/03 06:38
+PMCR- 2026/05/03
+CRDT- 2026/05/03 01:22
+PHST- 2026/05/03 06:38 [medline]
+PHST- 2026/05/03 06:37 [pubmed]
+PHST- 2026/05/03 01:22 [entrez]
+PHST- 2026/05/03 00:00 [pmc-release]
+AID - 951080 [pii]
+AID - 10.12659/AJCR.951080 [doi]
+PST - epublish
+SO - Am J Case Rep. 2026 May 3;27:e951080. doi: 10.12659/AJCR.951080.
+
PMID- 42046694
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -109,7 +2295,7 @@ AD - Division of Medical Microbiology, School of Veterinary Medicine and Biomed
LA - eng
PT - Journal Article
DEP - 20260315
-PL - India
+PL - New Zealand
TA - Vet World
JT - Veterinary world
JID - 101504872
@@ -474,7 +2660,7 @@ SO - J Med Case Rep. 2026 Apr 21. doi: 10.1186/s13256-026-06049-0.
PMID- 42009196
OWN - NLM
STAT- Publisher
-LR - 20260420
+LR - 20260513
IS - 2173-9188 (Electronic)
IS - 1130-1406 (Linking)
DP - 2026 Apr 18
@@ -486,43 +2672,46 @@ AB - BACKGROUND: Sporothrix brasiliensis is an emerging fungal pathogen whose
environmental reservoirs remain unclear. There are hypothesized reservoirs
involving seabirds. CASE REPORT: We report the first detection of S. brasiliensis
in a Macronectes giganteus specimen rescued in southern Brazil. The fungus was
- isolated from the cloaca and identified by Polymerase Chain Reaction (PCR) and
- sequencing. Short Tandem Repeat (STR) genotyping revealed a distinct profile of
+ isolated from the cloaca and identified by polymerase chain reaction (PCR) and
+ sequencing. Short tandem repeat (STR) genotyping revealed a distinct profile of
the isolate compared to previously described strains. The results revealed that
- the isolate possessed a wild-type profile to amphotericin B and itraconazole, and
- a non-wild-type profile to terbinafine. CONCLUSIONS: Findings suggest that
- migratory seabirds and marine environments may influence S. brasiliensis
- dissemination, underscoring the need for broader One Health surveillance at a
- global level.
-CI - Copyright (c) 2026. Publicado por Elsevier Espana S.L.U.
-FAU - Poester, Vanice Rodrigues
-AU - Poester VR
+ the isolate possessed a wild-type susceptibility profile to amphotericin B and
+ itraconazole, and a non-wild-type susceptibility profile to terbinafine.
+ CONCLUSIONS: Findings suggest that migratory seabirds and marine environments may
+ influence S. brasiliensis dissemination, underscoring the need for broader One
+ Health surveillance at a global level.
+CI - Copyright (c) 2026 The Authors. Publicado por Elsevier Espana S.L.U. All rights
+ reserved.
+FAU - Rodrigues Poester, Vanice
+AU - Rodrigues Poester V
AD - Programa de Pos-Graduacao em Ciencias da Saude, Faculdade de Medicina (FAMED),
- Universidade Federal do Rio Grande (FURG), Rio Grande, Rio Grande do Sul, state,
+ Universidade Federal do Rio Grande (FURG), Rio Grande, Rio Grande do Sul State
(RS), Brazil; Laboratorio de Micologia (FAMED-FURG), Rio Grande, RS, Brazil.
Electronic address: vanicerp@gmail.com.
-FAU - Trapaga, Mariana Rodrigues
-AU - Trapaga MR
+FAU - Rodrigues Trapaga, Mariana
+AU - Rodrigues Trapaga M
AD - Programa de Pos-Graduacao em Ciencias da Saude, Faculdade de Medicina (FAMED),
- Universidade Federal do Rio Grande (FURG), Rio Grande, Rio Grande do Sul, state,
+ Universidade Federal do Rio Grande (FURG), Rio Grande, Rio Grande do Sul State
(RS), Brazil; Laboratorio de Micologia (FAMED-FURG), Rio Grande, RS, Brazil.
-FAU - Hidalgo, Jessica E Davila
-AU - Hidalgo JED
+FAU - Davila Hidalgo, Jessica E
+AU - Davila Hidalgo JE
AD - Programa de Pos-Graduacao em Ciencias da Saude, Faculdade de Medicina (FAMED),
- Universidade Federal do Rio Grande (FURG), Rio Grande, Rio Grande do Sul, state,
+ Universidade Federal do Rio Grande (FURG), Rio Grande, Rio Grande do Sul State
(RS), Brazil; Laboratorio de Micologia (FAMED-FURG), Rio Grande, RS, Brazil.
-FAU - Munhoz, Livia Silveira
-AU - Munhoz LS
+FAU - Silveira Munhoz, Livia
+AU - Silveira Munhoz L
AD - Laboratorio de Micologia (FAMED-FURG), Rio Grande, RS, Brazil.
-FAU - Melo, Aryse Martins
-AU - Melo AM
+FAU - Martins Melo, Aryse
+AU - Martins Melo A
AD - One Health Disease Control Group, Infectious Disease Epidemiology Department,
Bernhard-Nocht-Institut fur Tropenmedizin, Hamburg, Germany.
-FAU - Tapi, Emanoel Bartz
-AU - Tapi EB
-AD - Laboratorio de Micologia (FAMED-FURG), Rio Grande, RS, Brazil.
-FAU - Canabarro, Paula Lima
-AU - Canabarro PL
+FAU - Bartz Tapi, Emanoel
+AU - Bartz Tapi E
+AD - Programa de Pos-Graduacao em Ciencias da Saude, Faculdade de Medicina (FAMED),
+ Universidade Federal do Rio Grande (FURG), Rio Grande, Rio Grande do Sul State
+ (RS), Brazil; Laboratorio de Micologia (FAMED-FURG), Rio Grande, RS, Brazil.
+FAU - Lima Canabarro, Paula
+AU - Lima Canabarro P
AD - Centro de Reabilitacao de Animais Marinhos (CRAM), Rio Grande, RS, Brazil.
FAU - de Groot, Theun
AU - de Groot T
@@ -539,12 +2728,11 @@ AU - Meijer EFJ
AD - Radboudumc-CWZ Center of Expertise for Mycology, Nijmegen, The Netherlands;
Department of Medical Microbiology and Immunology, Canisius-Wilhelmina Hospital
(CWZ)/Dicoon, Nijmegen, The Netherlands.
-FAU - Xavier, Melissa Orzechowski
-AU - Xavier MO
+FAU - Orzechowski Xavier, Melissa
+AU - Orzechowski Xavier M
AD - Programa de Pos-Graduacao em Ciencias da Saude, Faculdade de Medicina (FAMED),
- Universidade Federal do Rio Grande (FURG), Rio Grande, Rio Grande do Sul, state,
- (RS), Brazil; Laboratorio de Micologia (FAMED-FURG), Rio Grande, RS, Brazil.
- Electronic address: melissaxavierfurg@gmail.com.
+ Universidade Federal do Rio Grande (FURG), Rio Grande, Rio Grande do Sul State
+ (RS), Brazil; Laboratorio de Micologia (FAMED-FURG), Rio Grande, RS, Brazil.
LA - eng
PT - Case Reports
PT - Journal Article
@@ -571,8 +2759,8 @@ CRDT- 2026/04/20 19:13
PHST- 2026/01/31 00:00 [received]
PHST- 2026/02/25 00:00 [revised]
PHST- 2026/03/18 00:00 [accepted]
-PHST- 2026/04/21 13:11 [medline]
PHST- 2026/04/21 13:11 [pubmed]
+PHST- 2026/04/21 13:11 [medline]
PHST- 2026/04/20 19:13 [entrez]
AID - S1130-1406(26)00012-4 [pii]
AID - 10.1016/j.riam.2026.03.001 [doi]
@@ -787,14 +2975,19 @@ SO - Mol Diagn Ther. 2026 Apr 17. doi: 10.1007/s40291-026-00848-3.
PMID- 41987036
OWN - NLM
-STAT- Publisher
-LR - 20260416
+STAT- MEDLINE
+DCOM- 20260527
+LR - 20260529
IS - 1528-3658 (Electronic)
+IS - 1076-1551 (Print)
IS - 1076-1551 (Linking)
+VI - 32
+IP - 1
DP - 2026 Apr 15
TI - Genetic epidemiology of C9orf72 repeat expansion associated amyotrophic lateral
sclerosis in Hungary.
LID - 10.1186/s10020-026-01465-w [doi]
+LID - 81
AB - BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative
disorder characterized by progressive motor neuron loss. The most common genetic
cause of ALS is the hexanucleotide repeat expansion in the C9orf72 gene, which is
@@ -891,7 +3084,23 @@ PL - England
TA - Mol Med
JT - Molecular medicine (Cambridge, Mass.)
JID - 9501023
+RN - 0 (C9orf72 Protein)
+RN - 0 (C9orf72 protein, human)
SB - IM
+MH - Humans
+MH - *Amyotrophic Lateral Sclerosis/genetics/epidemiology/diagnosis
+MH - *C9orf72 Protein/genetics
+MH - Hungary/epidemiology
+MH - *DNA Repeat Expansion
+MH - Female
+MH - Male
+MH - Middle Aged
+MH - Aged
+MH - Genetic Predisposition to Disease
+MH - Disease Progression
+MH - Adult
+MH - Retrospective Studies
+PMC - PMC13214164
OTO - NOTNLM
OT - ALS
OT - Amyotrophic lateral sclerosis
@@ -904,17 +3113,20 @@ COIS- Declarations. Ethics approval and consent to participate: All participants
publication: All authors read the manuscript fully and consented to its
publication. Competing interests: The authors declare no competing interests.
EDAT- 2026/04/16 13:09
-MHDA- 2026/04/16 13:09
+MHDA- 2026/05/27 06:41
+PMCR- 2026/04/15
CRDT- 2026/04/16 01:02
PHST- 2026/01/25 00:00 [received]
PHST- 2026/03/18 00:00 [accepted]
-PHST- 2026/04/16 13:09 [medline]
+PHST- 2026/05/27 06:41 [medline]
PHST- 2026/04/16 13:09 [pubmed]
PHST- 2026/04/16 01:02 [entrez]
+PHST- 2026/04/15 00:00 [pmc-release]
AID - 10.1186/s10020-026-01465-w [pii]
+AID - 1465 [pii]
AID - 10.1186/s10020-026-01465-w [doi]
-PST - aheadofprint
-SO - Mol Med. 2026 Apr 15. doi: 10.1186/s10020-026-01465-w.
+PST - epublish
+SO - Mol Med. 2026 Apr 15;32(1):81. doi: 10.1186/s10020-026-01465-w.
PMID- 41986956
OWN - NLM
@@ -1740,15 +3952,18 @@ SO - bioRxiv [Preprint]. 2026 Mar 23:2026.03.20.711195. doi:
PMID- 41914630
OWN - NLM
STAT- Publisher
-LR - 20260331
+LR - 20260507
IS - 2165-0497 (Electronic)
IS - 2165-0497 (Linking)
+VI - 14
+IP - 5
DP - 2026 Mar 31
TI - Food poisoning from raw horse meat contaminated with Shiga toxin-producing
Escherichia coli O157 linked to nationwide spread of closely related strains,
Japan, 2023.
PG - e0411525
LID - 10.1128/spectrum.04115-25 [doi]
+LID - e04115-25
AB - In August 2023, 74 symptomatic patients developed Shiga toxin-producing
Escherichia coli (STEC) O157 infection after consuming raw horse meat processed
at a meat shop in Yamagata, Japan. To investigate the outbreak, we conducted
@@ -1840,6 +4055,7 @@ TA - Microbiol Spectr
JT - Microbiology spectrum
JID - 101634614
SB - IM
+PMC - PMC13141936
OTO - NOTNLM
OT - O157
OT - STEC
@@ -1848,15 +4064,20 @@ OT - field epidemiology
OT - multilocus variable-number tandem-repeat analysis
OT - raw horse meat
OT - whole-genome sequencing
+COIS- The authors declare no conflict of interest.
EDAT- 2026/03/31 12:32
MHDA- 2026/03/31 12:32
+PMCR- 2026/03/31
CRDT- 2026/03/31 08:03
PHST- 2026/03/31 12:32 [medline]
PHST- 2026/03/31 12:32 [pubmed]
PHST- 2026/03/31 08:03 [entrez]
+PHST- 2026/03/31 00:00 [pmc-release]
+AID - spectrum04115-25 [pii]
+AID - spectrum.04115-25 [pii]
AID - 10.1128/spectrum.04115-25 [doi]
PST - aheadofprint
-SO - Microbiol Spectr. 2026 Mar 31:e0411525. doi: 10.1128/spectrum.04115-25.
+SO - Microbiol Spectr. 2026 Mar 31;14(5):e0411525. doi: 10.1128/spectrum.04115-25.
PMID- 41906693
OWN - NLM
@@ -2963,14 +5184,18 @@ SO - Proc Natl Acad Sci U S A. 2026 Mar 24;123(12):e2520462123. doi:
PMID- 41833943
OWN - NLM
-STAT- Publisher
-LR - 20260316
+STAT- MEDLINE
+DCOM- 20260503
+LR - 20260506
IS - 2041-1723 (Electronic)
IS - 2041-1723 (Linking)
+VI - 17
+IP - 1
DP - 2026 Mar 15
TI - Stepwise transcription stalling by the anti-cancer drug Actinomycin D and
insights into short tandem repeat transcription inhibition.
LID - 10.1038/s41467-026-70612-y [doi]
+LID - 4005
AB - Short tandem repeats (STRs) comprise 6% of the human genome, and their
transcription is linked to over 60 diseases. Actinomycin D (ACTD) is the first
clinically approved anticancer antibiotic that inhibits transcription through an
@@ -3077,20 +5302,35 @@ PL - England
TA - Nat Commun
JT - Nature communications
JID - 101528555
+RN - 1CC1JFE158 (Dactinomycin)
+RN - EC 2.7.7.- (RNA Polymerase II)
+RN - 0 (Antibiotics, Antineoplastic)
SB - IM
+MH - *Dactinomycin/pharmacology
+MH - Humans
+MH - *Transcription, Genetic/drug effects
+MH - RNA Polymerase II/metabolism/genetics/chemistry
+MH - *Microsatellite Repeats/genetics/drug effects
+MH - Saccharomyces cerevisiae/genetics/drug effects/metabolism
+MH - Animals
+MH - *Antibiotics, Antineoplastic/pharmacology
+PMC - PMC13136328
COIS- Competing interests: The authors declare no competing interests.
EDAT- 2026/03/16 06:31
-MHDA- 2026/03/16 06:31
+MHDA- 2026/05/04 00:31
+PMCR- 2026/03/15
CRDT- 2026/03/16 00:04
PHST- 2024/12/31 00:00 [received]
PHST- 2026/02/26 00:00 [accepted]
-PHST- 2026/03/16 06:31 [medline]
+PHST- 2026/05/04 00:31 [medline]
PHST- 2026/03/16 06:31 [pubmed]
PHST- 2026/03/16 00:04 [entrez]
+PHST- 2026/03/15 00:00 [pmc-release]
AID - 10.1038/s41467-026-70612-y [pii]
+AID - 70612 [pii]
AID - 10.1038/s41467-026-70612-y [doi]
-PST - aheadofprint
-SO - Nat Commun. 2026 Mar 15. doi: 10.1038/s41467-026-70612-y.
+PST - epublish
+SO - Nat Commun. 2026 Mar 15;17(1):4005. doi: 10.1038/s41467-026-70612-y.
PMID- 41821560
OWN - NLM
@@ -3888,12 +6128,13 @@ SO - Nat Genet. 2026 Apr;58(4):726-736. doi: 10.1038/s41588-026-02537-7. Epub 2
PMID- 41812787
OWN - NLM
-STAT- Publisher
-LR - 20260315
+STAT- MEDLINE
+DCOM- 20260507
+LR - 20260507
IS - 1873-3492 (Electronic)
IS - 0009-8981 (Linking)
VI - 587
-DP - 2026 Mar 9
+DP - 2026 May 15
TI - Resolving a complex GPIHBP1 exons 3-4 deletion adjacent to low-complexity repeats
using adaptive sampling long-read sequencing in familial chylomicronaemia.
PG - 120965
@@ -3952,7 +6193,17 @@ PL - Netherlands
TA - Clin Chim Acta
JT - Clinica chimica acta; international journal of clinical chemistry
JID - 1302422
+RN - 0 (GPIHBP1 protein, human)
+RN - 0 (Receptors, Lipoprotein)
SB - IM
+MH - Humans
+MH - *Receptors, Lipoprotein/genetics
+MH - *Hyperlipoproteinemia Type I/genetics
+MH - *Exons/genetics
+MH - *Sequence Deletion
+MH - Male
+MH - *Sequence Analysis, DNA
+MH - Female
COIS- Declaration of competing interest The authors declare that they have no known
competing financial interests or personal relationships that could have appeared
to influence the work reported in this paper. Funding Written consent was
@@ -3961,31 +6212,36 @@ COIS- Declaration of competing interest The authors declare that they have no kn
Clinical Research Centre Mini Research Grant (2022/23-CRC-MRG-02) and approved by
the Hospital Authority Central Institutional Review Board (IRB Ref No: 175-05).
EDAT- 2026/03/12 01:09
-MHDA- 2026/03/12 01:09
+MHDA- 2026/05/08 00:32
CRDT- 2026/03/11 20:16
PHST- 2026/01/11 00:00 [received]
PHST- 2026/02/25 00:00 [revised]
PHST- 2026/03/08 00:00 [accepted]
+PHST- 2026/05/08 00:32 [medline]
PHST- 2026/03/12 01:09 [pubmed]
-PHST- 2026/03/12 01:09 [medline]
PHST- 2026/03/11 20:16 [entrez]
AID - S0009-8981(26)00147-6 [pii]
AID - 10.1016/j.cca.2026.120965 [doi]
-PST - aheadofprint
-SO - Clin Chim Acta. 2026 Mar 9;587:120965. doi: 10.1016/j.cca.2026.120965.
+PST - ppublish
+SO - Clin Chim Acta. 2026 May 15;587:120965. doi: 10.1016/j.cca.2026.120965. Epub 2026
+ Mar 9.
PMID- 41806827
OWN - NLM
-STAT- Publisher
-LR - 20260317
+STAT- MEDLINE
+DCOM- 20260513
+LR - 20260516
IS - 2666-979X (Electronic)
IS - 2666-979X (Linking)
-DP - 2026 Mar 9
+VI - 6
+IP - 5
+DP - 2026 May 13
TI - Long-read genome sequencing improves detection and functional interpretation of
structural and repeat variants in autism.
PG - 101186
LID - S2666-979X(26)00048-0 [pii]
LID - 10.1016/j.xgen.2026.101186 [doi]
+LID - 101186
AB - Long-read whole-genome sequencing (LR-WGS) technologies enhance the discovery of
structural variants (SVs) and tandem repeats (TRs). We performed LR-WGS on 267
individuals from 63 autism spectrum disorder (ASD) families and generated an
@@ -4067,9 +6323,24 @@ PL - United States
TA - Cell Genom
JT - Cell genomics
JID - 9918284260106676
+RN - 139135-51-6 (Fragile X Messenger Ribonucleoprotein 1)
+RN - 0 (FMR1 protein, human)
SB - IM
UOF - medRxiv. 2025 Jul 23:2025.07.20.25331880. doi: 10.1101/2025.07.20.25331880. PMID:
40778130
+MH - Humans
+MH - *Whole Genome Sequencing/methods
+MH - DNA Methylation/genetics
+MH - *Autism Spectrum Disorder/genetics
+MH - Male
+MH - Female
+MH - Fragile X Messenger Ribonucleoprotein 1/genetics
+MH - *Tandem Repeat Sequences/genetics
+MH - *Genomic Structural Variation/genetics
+MH - *Autistic Disorder/genetics
+MH - Genome, Human
+MH - Promoter Regions, Genetic
+PMC - PMC13174233
OTO - NOTNLM
OT - CGG repeat
OT - FMR1
@@ -4083,18 +6354,22 @@ OT - structural variation
OT - tandem repeat
COIS- Declaration of interests The authors declare no competing interests.
EDAT- 2026/03/11 01:11
-MHDA- 2026/03/11 01:11
+MHDA- 2026/05/14 00:31
+PMCR- 2026/03/09
CRDT- 2026/03/10 19:41
PHST- 2025/07/17 00:00 [received]
PHST- 2026/02/11 00:00 [revised]
PHST- 2026/02/12 00:00 [accepted]
-PHST- 2026/03/11 01:11 [medline]
+PHST- 2026/05/14 00:31 [medline]
PHST- 2026/03/11 01:11 [pubmed]
PHST- 2026/03/10 19:41 [entrez]
+PHST- 2026/03/09 00:00 [pmc-release]
AID - S2666-979X(26)00048-0 [pii]
+AID - 101186 [pii]
AID - 10.1016/j.xgen.2026.101186 [doi]
-PST - aheadofprint
-SO - Cell Genom. 2026 Mar 9:101186. doi: 10.1016/j.xgen.2026.101186.
+PST - ppublish
+SO - Cell Genom. 2026 May 13;6(5):101186. doi: 10.1016/j.xgen.2026.101186. Epub 2026
+ Mar 9.
PMID- 41804064
OWN - NLM
@@ -4356,7 +6631,7 @@ PMID- 41771688
OWN - NLM
STAT- MEDLINE
DCOM- 20260308
-LR - 20260308
+LR - 20260531
IS - 2575-1077 (Electronic)
IS - 2575-1077 (Linking)
VI - 9
@@ -4386,97 +6661,97 @@ CI - (c) 2026 Romano et al.
FAU - Romano, Lisa El
AU - Romano LE
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Tsukagoshi, Setsuki
AU - Tsukagoshi S
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Davey-Osuch, Emily E
AU - Davey-Osuch EE
AUID- ORCID: 0000-0001-7204-5089
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Ajredini, Ramadan
AU - Ajredini R
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Manasi, Kamat
AU - Manasi K
AD - Southeast Center for Integrated Metabolomics, Clinical and Translational Science
- Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ Institute, University of Florida, Gainesville, FL, USA.
FAU - Ortiz, Tala Vr
AU - Ortiz TV
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Rijos, Eduardo
AU - Rijos E
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Bourgon, Nathan J
AU - Bourgon NJ
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Ames, S Elaine
AU - Ames SE
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Garrett, Timothy J
AU - Garrett TJ
AD - Southeast Center for Integrated Metabolomics, Clinical and Translational Science
- Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ Institute, University of Florida, Gainesville, FL, USA.
AD - Department of Pathology, Immunology and Laboratory Medicine, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Cleary, John D
AU - Cleary JD
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
FAU - Wang, Eric T
AU - Wang ET
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
-AD - Genetics Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
-AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
+AD - Genetics Institute, University of Florida, Gainesville, FL, USA.
+AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
FAU - Ranum, Laura Pw
AU - Ranum LP
AUID- ORCID: 0000-0001-9808-9661
AD - Center for NeuroGenetics, College of Medicine, University of Florida,
- Gainesville, FL, USA ranum@ufl.edu. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA ranum@ufl.edu.
AD - Department of Molecular Genetics and Microbiology, College of Medicine,
- University of Florida, Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
-AD - Genetics Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
-AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA. ROR:
- https://ror.org/02y3ad647
+ University of Florida, Gainesville, FL, USA.
+AD - Genetics Institute, University of Florida, Gainesville, FL, USA.
+AD - McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
AD - Department of Neurology, College of Medicine, University of Florida, Gainesville,
- FL, USA. ROR: https://ror.org/02y3ad647
+ FL, USA.
AD - Norman Fixel Institute for Neurological Disease, University of Florida,
- Gainesville, FL, USA. ROR: https://ror.org/02y3ad647
+ Gainesville, FL, USA.
LA - eng
+GR - R01 NS098819/NS/NINDS NIH HHS/United States
+GR - R37 NS040389/NS/NINDS NIH HHS/United States
+GR - R01 NS117910/NS/NINDS NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Intramural
+PT - Research Support, Non-U.S. Gov't
+PT - Research Support, U.S. Gov't, Non-P.H.S.
DEP - 20260302
PL - United States
TA - Life Sci Alliance
@@ -6684,8 +8959,9 @@ PMID- 41643661
OWN - NLM
STAT- MEDLINE
DCOM- 20260319
-LR - 20260319
+LR - 20260527
IS - 1097-4199 (Electronic)
+IS - 0896-6273 (Print)
IS - 0896-6273 (Linking)
VI - 114
IP - 6
@@ -6799,10 +9075,11 @@ AD - Department of Biochemistry and Molecular Biology, Bloomberg School of Publ
Neuroscience, School of Medicine, Johns Hopkins University, Baltimore, MD 21205,
USA. Electronic address: jiouw@jhmi.edu.
LA - eng
+GR - R01 HG009518/HG/NHGRI NIH HHS/United States
+GR - R01 NS128494/NS/NINDS NIH HHS/United States
GR - R01 NS074324/NS/NINDS NIH HHS/United States
-GR - R01 NS089616/NS/NINDS NIH HHS/United States
GR - R01 NS110098/NS/NINDS NIH HHS/United States
-GR - R01 NS128494/NS/NINDS NIH HHS/United States
+GR - R01 NS089616/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20260204
PL - United States
@@ -6827,6 +9104,8 @@ MH - Transcription, Genetic
MH - Chromatin/metabolism
MH - Motor Neurons/metabolism
MH - Gene Expression Regulation
+PMC - PMC13204405
+MID - NIHMS2168308
OTO - NOTNLM
OT - C9ORF72
OT - DNA-RNA interaction
@@ -6839,6 +9118,7 @@ COIS- Declaration of interests J.K.I. is a cofounder of AcuraStem and Modulo Bio
this project.
EDAT- 2026/02/06 00:30
MHDA- 2026/03/20 00:59
+PMCR- 2026/05/26
CRDT- 2026/02/05 18:41
PHST- 2025/01/09 00:00 [received]
PHST- 2025/09/30 00:00 [revised]
@@ -6846,6 +9126,7 @@ PHST- 2025/12/03 00:00 [accepted]
PHST- 2026/03/20 00:59 [medline]
PHST- 2026/02/06 00:30 [pubmed]
PHST- 2026/02/05 18:41 [entrez]
+PHST- 2026/05/26 00:00 [pmc-release]
AID - S0896-6273(25)00932-8 [pii]
AID - 10.1016/j.neuron.2025.12.005 [doi]
PST - ppublish
@@ -7771,9 +10052,9 @@ SO - J Neurochem. 2026 Jan;170(1):e70352. doi: 10.1111/jnc.70352.
PMID- 41514368
OWN - NLM
-STAT- MEDLINE
+STAT- In-Process
DCOM- 20260128
-LR - 20260129
+LR - 20260601
IS - 1756-994X (Electronic)
IS - 1756-994X (Linking)
VI - 18
@@ -7970,8 +10251,8 @@ SO - Genome Med. 2026 Jan 9;18(1):12. doi: 10.1186/s13073-025-01596-5.
PMID- 41504274
OWN - NLM
STAT- MEDLINE
-DCOM- 20260410
-LR - 20260412
+DCOM- 20260601
+LR - 20260601
IS - 1531-8257 (Electronic)
IS - 0885-3185 (Print)
IS - 0885-3185 (Linking)
@@ -8124,20 +10405,22 @@ PL - United States
TA - Mov Disord
JT - Movement disorders : official journal of the Movement Disorder Society
JID - 8610688
+RN - 0 (fibroblast growth factor 14)
+RN - 62031-54-3 (Fibroblast Growth Factors)
SB - IM
MH - Humans
-MH - Male
MH - Female
+MH - Male
+MH - Cohort Studies
MH - Netherlands
MH - Middle Aged
MH - Aged
-MH - Adult
MH - Magnetic Resonance Imaging
-MH - Cohort Studies
MH - *Cerebellar Ataxia/genetics/diagnostic imaging
-MH - *Spinocerebellar Ataxias/genetics/diagnostic imaging
-MH - Retrospective Studies
MH - Trinucleotide Repeat Expansion/genetics
+MH - Adult
+MH - Retrospective Studies
+MH - Fibroblast Growth Factors
PMC - PMC13067310
OTO - NOTNLM
OT - Ataxia
@@ -9740,7 +12023,7 @@ PMID- 41283823
OWN - NLM
STAT- MEDLINE
DCOM- 20260421
-LR - 20260421
+LR - 20260526
IS - 2167-9223 (Electronic)
IS - 2167-8421 (Linking)
VI - 27
@@ -10441,7 +12724,7 @@ PMID- 41263501
OWN - NLM
STAT- MEDLINE
DCOM- 20260415
-LR - 20260417
+LR - 20260526
IS - 1529-7268 (Electronic)
IS - 0006-3363 (Print)
IS - 0006-3363 (Linking)
@@ -10514,6 +12797,7 @@ GR - R01 HD109707/HD/NICHD NIH HHS/United States
GR - R21 HD102653/HD/NICHD NIH HHS/United States
GR - R25 CA269039/CA/NCI NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
PL - United States
TA - Biol Reprod
JT - Biology of reproduction
@@ -11169,7 +13453,7 @@ PMID- 41204969
OWN - NLM
STAT- MEDLINE
DCOM- 20251108
-LR - 20260306
+LR - 20260512
IS - 1432-0533 (Electronic)
IS - 0001-6322 (Print)
IS - 0001-6322 (Linking)
@@ -11334,7 +13618,6 @@ AD - Norman Fixel Institute for Neurological Disease, University of Florida,
Gainesville, USA. lien.nguyen@ufl.edu.
AD - Genetics Institute, University of Florida, Gainesville, USA. lien.nguyen@ufl.edu.
LA - eng
-GR - R01 NS126536/NS/NINDS NIH HHS/United States
GR - P30 AG066507/AG/NIA NIH HHS/United States
GR - R00 AG065511/AG/NIA NIH HHS/United States
GR - P50 AG047266/AG/NIA NIH HHS/United States
@@ -11648,7 +13931,7 @@ PMID- 41196070
OWN - NLM
STAT- MEDLINE
DCOM- 20260421
-LR - 20260421
+LR - 20260526
IS - 2167-9223 (Electronic)
IS - 2167-8421 (Linking)
VI - 27
@@ -11759,6 +14042,7 @@ AD - Neurogenetics Unit, 1st Department of Neurology, National and Kapodistrian
University of Athens, Eginitio Hospital, Athens, Greece.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20251106
PL - England
TA - Amyotroph Lateral Scler Frontotemporal Degener
@@ -12441,6 +14725,7 @@ STAT- MEDLINE
DCOM- 20251113
LR - 20260219
IS - 1939-4586 (Electronic)
+IS - 1059-1524 (Print)
IS - 1059-1524 (Linking)
VI - 36
IP - 12
@@ -12505,10 +14790,12 @@ MID - NIHMS2139731
COIS- Conflicts of interest: The authors declare no competing financial interests.
EDAT- 2025/10/08 18:33
MHDA- 2025/11/13 18:30
+PMCR- 2026/02/18
CRDT- 2025/10/08 12:32
PHST- 2025/11/13 18:30 [medline]
PHST- 2025/10/08 18:33 [pubmed]
PHST- 2025/10/08 12:32 [entrez]
+PHST- 2026/02/18 00:00 [pmc-release]
AID - 10.1091/mbc.E24-12-0539 [doi]
PST - ppublish
SO - Mol Biol Cell. 2025 Dec 1;36(12):ar145. doi: 10.1091/mbc.E24-12-0539. Epub 2025
@@ -12516,51 +14803,57 @@ SO - Mol Biol Cell. 2025 Dec 1;36(12):ar145. doi: 10.1091/mbc.E24-12-0539. Epub
PMID- 41058593
OWN - NLM
-STAT- Publisher
-LR - 20251014
+STAT- MEDLINE
+DCOM- 20260505
+LR - 20260507
IS - 1460-2156 (Electronic)
+IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
-DP - 2025 Oct 8
+VI - 149
+IP - 5
+DP - 2026 May 5
TI - Large-scale genetic characterization of Parkinson's disease in the African and
African admixed populations.
-LID - awaf379 [pii]
+PG - 1537-1553
LID - 10.1093/brain/awaf379 [doi]
-AB - Elucidating the genetic contributions to Parkinson's disease (PD) etiology across
+AB - Elucidating the genetic contributions to Parkinson's disease aetiology across
diverse ancestries is a critical priority for the development of targeted
therapies in a global context. We conducted the largest sequencing
characterization of potentially disease-causing, protein-altering and splicing
- mutations in 710 cases and 11,827 controls from genetically predicted African or
+ mutations in 710 cases and 11 827 controls from genetically predicted African or
African admixed ancestries. We explored copy number variants (CNVs) and runs of
- homozygosity (ROHs) in prioritized early onset and familial cases. Our study
- identified rare GBA1 coding variants to be the most frequent mutations among PD
- patients, with a frequency of 4% in our case cohort. Out of the 18 GBA1 variants
- identified, ten were previously classified as pathogenic or likely pathogenic,
- four were novel, and four were reported as of uncertain clinical significance.
- The most common known disease-associated GBA1 variants in the Ashkenazi Jewish
- and European populations, p.Asn409Ser, p.Leu483Pro, p.Thr408Met, and p.Glu365Lys,
- were not identified among the screened PD cases of African and African admixed
- ancestry. Similarly, the European and Asian LRRK2 disease-causing mutational
- spectrum, including LRRK2 p.Gly2019Ser and p.Gly2385Arg genetic risk factors, did
- not appear to play a major role in PD etiology among West African-ancestry
- populations. However, we found three heterozygous novel missense LRRK2 variants
- of uncertain significance overrepresented in cases, two of which-p.Glu268Ala and
- p.Arg1538Cys-had a higher prevalence in the African ancestry population reference
- datasets. Structural variant analyses revealed the presence of PRKN CNVs with a
- frequency of 0.7% in African and African admixed cases, with 66% of CNVs detected
- being compound heterozygous or homozygous in early-onset cases, providing further
- insights into the genetic underpinnings in early-onset juvenile PD in these
- populations. Short tandem repeat analysis also identified ATXN3 repeat expansions
- within the pathogenic range (CAGn > 45) in three PD patients of African ancestry.
- Novel genetic variation overrepresented in cases versus controls among screened
+ homozygosity in prioritized early onset and familial cases. Our study identified
+ rare GBA1 coding variants to be the most frequent mutations among patients with
+ Parkinson's disease, with a frequency of 4% in our case cohort. Of the 18 GBA1
+ variants identified, 10 were previously classified as pathogenic or likely
+ pathogenic, four were novel and four were reported as of uncertain clinical
+ significance. The most common known disease-associated GBA1 variants in the
+ Ashkenazi Jewish and European populations, p.Asn409Ser, p.Leu483Pro, p.Thr408Met
+ and p.Glu365Lys, were not identified among the screened Parkinson's disease cases
+ of African and African admixed ancestry. Similarly, the European and Asian LRRK2
+ disease-causing mutational spectrum, including LRRK2 p.Gly2019Ser and
+ p.Gly2385Arg genetic risk factors, did not appear to play a major role in
+ Parkinson's disease aetiology among West African ancestry populations. However,
+ we found three heterozygous novel missense LRRK2 variants of uncertain
+ significance, with two (p.Glu268Ala and p.Arg1538Cys) displaying higher
+ frequencies in the African ancestry population reference datasets. Structural
+ variant analyses revealed the presence of PRKN CNVs with a frequency of 0.7% in
+ African and African admixed cases, with 66% of CNVs detected being compound
+ heterozygous or homozygous in early-onset cases, providing further insights into
+ the genetic underpinnings in early-onset juvenile Parkinson's disease in these
+ populations. Short tandem repeat analysis also identified ATXN3 CAG repeat
+ expansions within the pathogenic range (CAGn > 45) in three patients with
+ Parkinson's disease of African ancestry. Novel genetic variation among screened
genes warrants further replication and functional prioritization to unravel their
- pathogenic potential. Here, we created the most comprehensive genetic catalog of
- both known and novel coding and splicing variants potentially linked to PD
- etiology in an underserved population and further conducted global and local
- ancestry analyses to further explore population-specific effects. Our study has
- the potential to guide the development of targeted therapies in the emerging era
- of precision medicine. By expanding genetics research to involve underrepresented
- populations, we hope that future PD treatments are not only effective but also
- inclusive, addressing the needs of diverse ancestral groups.
+ pathogenic potential. Here, we created the most comprehensive genetic catalogue
+ of both known and novel coding and splicing variants potentially linked to
+ Parkinson's disease aetiology in an underserved population and further conducted
+ global and local ancestry analyses to further explore population-specific
+ effects. Our study has the potential to guide the development of targeted
+ therapies in the emerging era of precision medicine. By expanding genetics
+ research to involve underrepresented populations, we hope that future Parkinson's
+ disease treatments are not only effective but also inclusive, addressing the
+ needs of diverse ancestral groups.
CI - (c) The Author(s) 2025. Published by Oxford University Press on behalf of the
Guarantors of Brain.
FAU - Akcimen, Fulya
@@ -12585,36 +14878,38 @@ AU - Step K
AUID- ORCID: 0000-0002-4054-7030
AD - Department of Biomedical Sciences, Division of Molecular Biology and Human
Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape
- Town, South Africa.
+ Town 7505, South Africa.
AD - South African Medical Research Council Centre for Tuberculosis Research,
- Stellenbosch University, Cape Town, South Africa.
+ Stellenbosch University, Cape Town 7505, South Africa.
FAU - Waldo, Emily
AU - Waldo E
AD - Genomic Medicine, Lerner Research Institute, Cleveland Clinic Foundation,
- Cleveland, OH 44106, United States.
+ Cleveland, OH 44106, USA.
FAU - Koretsky, Mathew J
AU - Koretsky MJ
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Saffie-Awad, Paula
AU - Saffie-Awad P
AD - Programa de Pos-Graduacao em Ciencias Medicas, Universidade Federal do Rio Grande
- do Sul, Porto Alegre, Brazil.
-AD - Clinica Santa Maria, Santiago, Chile.
+ do Sul, Porto Alegre 90035, Brazil.
+AD - Clinica Santa Maria, Santiago 7520378, Chile.
FAU - Achoru, Charles
AU - Achoru C
-AD - Jos University Teaching Hospital, Jos, Plateau State, Nigeria.
+AD - Jos University Teaching Hospital, Jos, Plateau State 930105, Nigeria.
FAU - Taiwo, Funmilola
AU - Taiwo F
-AD - University College Hospital, Ibadan, Oyo State, Nigeria.
+AD - University College Hospital, Ibadan, Oyo State 200005, Nigeria.
FAU - Ozomma, Simon
AU - Ozomma S
-AD - University of Calabar Teaching Hospital, Calabar, Cross River State, Nigeria.
+AD - Department of Internal Medicine, University of Calabar Teaching Hospital,
+ Calabar, Cross River State 540281, Nigeria.
FAU - Onwuegbuzie, Gerald
AU - Onwuegbuzie G
-AD - University of Abuja, Gwagwalada, Federal Capital Territory, Nigeria.
+AD - Department of Internal Medicine, University of Abuja, Gwagwalada, Federal Capital
+ Territory 902101, Nigeria.
FAU - Khani, Marzieh
AU - Khani M
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
@@ -12629,18 +14924,22 @@ AD - Center for Alzheimer's and Related Dementias, National Institute on Aging
Health, Bethesda, MD 20892, USA.
FAU - Owolabi, Lukman
AU - Owolabi L
-AD - Bayero University, Kano, Kano State, Nigeria.
+AD - Department of Medicine, Bayero University, Kano, Kano State 700001, Nigeria.
FAU - Okereke, Chiamaka
AU - Okereke C
-AD - University of Nigeria Teaching Hospital, Ituku-Ozalla, Enugu State, Nigeria.
+AD - Department of Medicine, University of Nigeria Teaching Hospital, Ituku-Ozalla,
+ Enugu State 402109, Nigeria.
FAU - Oshinaike, Olajumoke
AU - Oshinaike O
-AD - Lagos State University College Of Medicine, Ikeja, Lagos State, Nigeria.
+AD - Department of Medicine, Lagos State University College of Medicine, Ikeja, Lagos
+ State P.M.B. 0001, Nigeria.
FAU - Iwuozo, Emmanuel
AU - Iwuozo E
-AD - Benue State University, Makurdi, Benue State, Nigeria.
-FAU - Can Akerman, Suleyman
-AU - Can Akerman S
+AD - Department of Internal Medicine, Benue State University, Makurdi, Benue State
+ 970001, Nigeria.
+FAU - Akerman, Suleyman Can
+AU - Akerman SC
+AUID- ORCID: 0000-0001-8424-1917
AD - Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore,
MD 21205, USA.
AD - Department of Neurology, Johns Hopkins University School of Medicine, Baltimore,
@@ -12651,10 +14950,12 @@ AD - Laboratory of Neurogenetics, National Institute on Aging, National Institu
Health, Bethesda, MD 20892, USA.
FAU - Oyakhire, Shyngle
AU - Oyakhire S
-AD - National Hospital Abuja, Federal Capital Territory, Nigeria.
+AD - Department of Internal Medicine, National Hospital Abuja, Abuja, Federal Capital
+ Territory 900103, Nigeria.
FAU - Osemwegie, Nosakhare
AU - Osemwegie N
-AD - University of Port Harcourt Teaching Hospital, Rivers State, Nigeria.
+AD - Department of Medicine, University of Port Harcourt Teaching Hospital, Port
+ Harcourt, Rivers State 500004, Nigeria.
FAU - Daida, Kensuke
AU - Daida K
AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
@@ -12662,18 +14963,21 @@ AD - Laboratory of Neurogenetics, National Institute on Aging, National Institu
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - Department of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
+AD - Department of Neurology, Faculty of Medicine, Juntendo University, Tokyo
+ 113-8421, Japan.
FAU - Abubakar, Sani
AU - Abubakar S
-AD - Ahmadu Bello University, Zaria, Kaduna State, Nigeria.
+AD - Department of Medicine, Ahmadu Bello University, Zaria, Kaduna State 800001,
+ Nigeria.
FAU - Olusanya, Adedunni
AU - Olusanya A
-AD - College of Medicine University of Lagos, Idi-araba, Lagos State, Nigeria.
-AD - R-Jolad Hospital, Gbagada, Lagos, Nigeria.
+AD - Department of Pharmacology, Therapeutics and Toxicology, College of Medicine
+ University of Lagos, Idi-araba, Lagos State P.M.B 12003, Nigeria.
+AD - R-Jolad Hospital, Gbagada, Lagos 100254, Nigeria.
FAU - Isayan, Mariam
AU - Isayan M
-AD - Department of Neurology and Neurosurgery, National Institute of Health, Yerevan,
- Armenia.
+AD - Department of Neurology and Neurosurgery, National Institute of Health, Yerevan
+ 0051, Armenia.
FAU - Alvarez, Christiane
AU - Alvarez C
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
@@ -12686,158 +14990,178 @@ AD - Center for Alzheimer's and Related Dementias, National Institute on Aging
Health, Bethesda, MD 20892, USA.
FAU - Ogunmodede, Adebimpe
AU - Ogunmodede A
-AD - Federal Medical Center, Owo, Ondo State, Nigeria.
+AD - Neurology Unit, Department of Medicine, Federal Medical Center, Owo, Ondo State
+ 341101, Nigeria.
FAU - Samuel, Sarah
AU - Samuel S
-AD - University of Maiduguri Teaching Hospital, Maiduguri, Borno State, Nigeria.
+AD - University of Maiduguri Teaching Hospital, Maiduguri, Borno State 600230,
+ Nigeria.
FAU - Makarious, Mary B
AU - Makarious MB
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Sa'ad, Fadimatu
AU - Sa'ad F
-AD - Federal Teaching Hospital, Gombe, Gombe State, Nigeria.
+AD - Federal Teaching Hospital, Gombe, Gombe State 760253, Nigeria.
FAU - Olanigan, Rashidat
AU - Olanigan R
-AD - Lagos State University Teaching Hospital, Ikeja, Lagos State, Nigeria.
+AD - Neurology Unit, Department of Medicine, Lagos State University Teaching Hospital,
+ Ikeja, Lagos State 101233, Nigeria.
FAU - Levine, Kristin
AU - Levine K
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Ogbimi, Ewere Marie
AU - Ogbimi EM
-AD - Delta State University Abraka, Delta State, Nigeria.
+AD - Department of Medicine, Faculty of Clinical Medicine, Delta State University,
+ Abraka, Delta State 330105, Nigeria.
FAU - Vitale, Dan
AU - Vitale D
AUID- ORCID: 0000-0002-0637-3671
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Odiase, Francis
AU - Odiase F
-AD - University of Benin, Benin City, Edo State, Nigeria.
+AD - Department of Medicine, College of Medical Sciences, University of Benin, Benin
+ City, Edo State 300242, Nigeria.
FAU - Ojini, Francis
AU - Ojini F
-AD - Ahmadu Bello University, Zaria, Kaduna State, Nigeria.
-AD - Lagos University Teaching Hospital, Idi-araba, Lagos State, Nigeria.
+AD - Department of Medicine, Ahmadu Bello University, Zaria, Kaduna State 800001,
+ Nigeria.
+AD - Department of Medicine, Neurology Unit, Lagos University Teaching Hospital,
+ Idi-araba, Lagos State 102215, Nigeria.
FAU - Odeniyi, Olanike
AU - Odeniyi O
-AD - General Hospital, Lagos Island, Lagos State, Nigeria.
+AD - General Hospital, Lagos Island, Lagos State 102273, Nigeria.
FAU - Fang, Zih-Hua
AU - Fang ZH
-AD - German Center for Neurodegenerative Diseases, DZNE, Tubingen, Germany.
+AD - German Center for Neurodegenerative Diseases, DZNE, Tubingen 72076, Germany.
FAU - Obianozie, Nkechi
AU - Obianozie N
-AD - University of Abuja Teaching Hospital, Gwagwalada, Federal Capital Territory,
- Nigeria.
+AD - University of Abuja Teaching Hospital, Gwagwalada, Federal Capital Territory
+ 902101, Nigeria.
FAU - Hall, Deborah A
AU - Hall DA
AD - Department of Neurological Sciences, Rush University Medical Center, Chicago, IL
60612, USA.
FAU - Nwazor, Ernest
AU - Nwazor E
-AD - Rivers State University Teaching Hospital, Port Harcourt, Rivers State, Nigeria.
+AD - Department of Medicine, Rivers State University Teaching Hospital, Port Harcourt,
+ Rivers State 500101, Nigeria.
FAU - Xie, Tao
AU - Xie T
AD - University of Chicago Medicine, Department of Neurology, Chicago, IL 60637, USA.
FAU - Nwaokorie, Francesca
AU - Nwaokorie F
-AD - College of Medicine University of Lagos, Idi-araba, Lagos State, Nigeria.
+AD - Department of Pharmacology, Therapeutics and Toxicology, College of Medicine
+ University of Lagos, Idi-araba, Lagos State P.M.B 12003, Nigeria.
FAU - Padmanaban, Mahesh
AU - Padmanaban M
AD - University of Chicago Medicine, Department of Neurology, Chicago, IL 60637, USA.
FAU - Nwani, Paul
AU - Nwani P
-AD - Nnamdi Azikiwe University Teaching Hospital, Nnewi, Anambra State, Nigeria.
+AD - Internal Medicine, Faculty of Medicine, Nnamdi Azikiwe University Teaching
+ Hospital, Nnewi, Anambra State 435101, Nigeria.
FAU - Shamim, Ejaz A
AU - Shamim EA
-AD - National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA.
-AD - Mid-Atlantic Permanente Medical Group, Department of Neurology, Largo, MD 20774,
+AD - Human Motor Control Section, National Institute of Neurological Disorders and
+ Stroke, Bethesda, MD 20892, USA.
+AD - Department of Neurology, Mid-Atlantic Permanente Medical Group, Largo, MD 20774,
USA.
-AD - Kaiser Permanente, MidAtlantic Permanente Research Institute, Washington, DC
+AD - Kaiser Permanente, Mid-Atlantic Permanente Research Institute, Washington, DC
20002, USA.
FAU - Nnama, Alero
AU - Nnama A
-AD - University of Port Harcourt Teaching Hospital, Rivers State, Nigeria.
+AD - Department of Medicine, University of Port Harcourt Teaching Hospital, Port
+ Harcourt, Rivers State 500004, Nigeria.
FAU - Standaert, David
AU - Standaert D
AUID- ORCID: 0000-0003-2921-8348
-AD - University of Alabama at Birmingham, Department of Neurology, Birmingham, AL
+AD - Department of Neurology, University of Alabama at Birmingham, Birmingham, AL
35294, USA.
FAU - Komolafe, Morenikeji
AU - Komolafe M
-AD - Obafemi Awolowo University, Ile-Ife, Osun State, Nigeria.
+AD - Department of Medicine, Obafemi Awolowo University, Ile-Ife, Osun State 220282,
+ Nigeria.
FAU - Dean, Marissa
AU - Dean M
-AD - University of Alabama at Birmingham, Department of Neurology, Birmingham, AL
+AD - Department of Neurology, University of Alabama at Birmingham, Birmingham, AL
35294, USA.
FAU - Osaigbovo, Godwin
AU - Osaigbovo G
-AD - Jos University Teaching Hospital, Jos, Plateau State, Nigeria.
+AD - Jos University Teaching Hospital, Jos, Plateau State 930105, Nigeria.
FAU - Disbrow, Elizabeth
AU - Disbrow E
AD - Department of Neurology, LSU Health Shreveport, LSU Health Shreveport Center for
Brain Health, Shreveport, LA 71103, USA.
FAU - Ishola, Ismaila
AU - Ishola I
-AD - University of Benin, Benin City, Edo State, Nigeria.
+AD - Department of Medicine, College of Medical Sciences, University of Benin, Benin
+ City, Edo State 300242, Nigeria.
FAU - Rawls, Ashley
AU - Rawls A
-AD - University of Florida Norman Fixel Institute for Neurological Diseases, Neurology
- Movement Disorders, Gainesville, FL 32608, USA.
+AD - Department of Neurology, University of Florida College of Medicine, Gainesville,
+ Florida 32611, USA.
FAU - Imarhiagbe, Frank
AU - Imarhiagbe F
-AD - Delta State University Abraka, Delta State, Nigeria.
+AD - Department of Medicine, Faculty of Clinical Medicine, Delta State University,
+ Abraka, Delta State 330105, Nigeria.
FAU - Chandra, Shivika
AU - Chandra S
-AD - The University of Texas Health Science Center at Houston, Houston, TX 20036, USA.
+AD - Department of Neurology, The University of Texas Health Science Center at
+ Houston, Houston, TX 20036, USA.
FAU - Erameh, Cyril
AU - Erameh C
-AD - Irrua Specialist Teaching Hospital, Irrua, Edo State, Nigeria.
+AD - Department of Medicine, Irrua Specialist Teaching Hospital, Irrua, Edo State
+ 312107, Nigeria.
FAU - Hinson, Vanessa
AU - Hinson V
-AD - Medical University of South Carolina, Charleston, SC 29425, USA.
+AD - Department of Neurology, Medical University of South Carolina, Charleston, SC
+ 29425, USA.
FAU - Louie, Naomi
AU - Louie N
-AD - Michael J Fox Foundation for Parkinson's Research, Department of Clinical
+AD - Department of Clinical Research, Michael J Fox Foundation for Parkinson's
Research, New York, NY 10163, USA.
FAU - Idowu, Ahmed
AU - Idowu A
-AD - Obafemi Awolowo University Teaching Hospitals Complex, Ile-Ife, Osun State,
- Nigeria.
+AD - Department of Medicine, Obafemi Awolowo University Teaching Hospitals Complex,
+ Ile-Ife, Osun State 220282, Nigeria.
FAU - Solle, J
AU - Solle J
-AD - Michael J Fox Foundation for Parkinson's Research, Department of Clinical
+AD - Department of Clinical Research, Michael J Fox Foundation for Parkinson's
Research, New York, NY 10163, USA.
FAU - Norris, Scott A
AU - Norris SA
AUID- ORCID: 0000-0002-3835-0976
-AD - Washington University in St Louis, St Louis, MO 63130, USA.
+AD - Department of Neurology, Washington University in St Louis, St Louis, MO 63130,
+ USA.
FAU - Ibrahim, Abdullahi
AU - Ibrahim A
-AD - Federal University of Health Sciences Teaching Hospital, Azare, Bauchi State,
- Nigeria.
+AD - Federal University of Health Sciences Teaching Hospital, Azare, Bauchi State
+ 751102, Nigeria.
FAU - Kilbane, Camilla
AU - Kilbane C
-AD - University Hospital in Cleveland Medical Center/Case Western Reserve University
- (UH), OH 44106, USA.
+AD - University Hospital in Cleveland Medical Center, Case Western Reserve University
+ (UH), Cleveland, OH 44106, USA.
FAU - Sukumar, Gauthaman
AU - Sukumar G
AD - Department of Anatomy, Physiology and Genetics, School of Medicine, Uniformed
Services, Bethesda, MD 20814, USA.
-AD - University of the Health Sciences, 4301 Jones Bridge Rd, Bethesda, MD, 20814,
- USA.
+AD - Center for Military Precision Health, Uniformed Services University of the Health
+ Sciences, Bethesda, MD 20814, USA.
FAU - Shulman, Lisa M
AU - Shulman LM
-AD - University of Maryland, Baltimore, MD 21201, USA.
+AD - Department of Neurology, University of Maryland, Baltimore, MD 21201, USA.
FAU - Ezuduemoih, Daniel
AU - Ezuduemoih D
-AD - Lagos University Teaching Hospital, Idi-araba, Lagos State, Nigeria.
+AD - Department of Medicine, Neurology Unit, Lagos University Teaching Hospital,
+ Idi-araba, Lagos State 102215, Nigeria.
FAU - Staisch, Julia
AU - Staisch J
AD - Ochsner Clinic Foundation, New Orleans, LA 70124, USA.
@@ -12852,13 +15176,16 @@ AD - The American Genome Center, Collaborative Health Initiative Research Progr
Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.
FAU - Foster, Erin R
AU - Foster ER
-AD - Washington University in St Louis, St Louis, MO 63130, USA.
+AD - Department of Neurology, Washington University in St Louis, St Louis, MO 63130,
+ USA.
FAU - Bello, Abiodun
AU - Bello A
-AD - University of Ilorin Teaching Hospital, Ilorin, Kwara State, Nigeria.
+AD - Division of Neurology, Department of Medicine, University of Ilorin Teaching
+ Hospital, Ilorin, Kwara State 234031, Nigeria.
FAU - Ameri, Andrew
AU - Ameri A
-AD - Medical University of South Carolina, Charleston, SC 29425, USA.
+AD - Department of Neurology, Medical University of South Carolina, Charleston, SC
+ 29425, USA.
FAU - Real, Raquel
AU - Real R
AUID- ORCID: 0000-0001-8117-742X
@@ -12867,29 +15194,33 @@ AD - Department of Clinical and Movement Neurosciences, UCL Queen Square Instit
AD - UCL Movement Disorders Centre, University College London, London WC1N 3BG, UK.
FAU - Ikwenu, Erica
AU - Ikwenu E
-AD - Lagos University Teaching Hospital, Idi-araba, Lagos State, Nigeria.
+AD - Department of Medicine, Neurology Unit, Lagos University Teaching Hospital,
+ Idi-araba, Lagos State 102215, Nigeria.
FAU - Morris, Huw R
AU - Morris HR
AUID- ORCID: 0000-0002-5473-3774
AD - Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of
Neurology, London WC1N 3BG, UK.
-AD - National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.
-AD - Department of Neurology, Royal Free Hospital, London,NW3 2QG, UK.
+AD - National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
+AD - Department of Neurology, Royal Free Hospital, London NW3 2QG, UK.
FAU - Anyanwu, Roosevelt
AU - Anyanwu R
-AD - College of Medicine University of Lagos, Idi-araba, Lagos State, Nigeria.
+AD - Department of Pharmacology, Therapeutics and Toxicology, College of Medicine
+ University of Lagos, Idi-araba, Lagos State P.M.B 12003, Nigeria.
FAU - Furr Stimming, Erin
AU - Furr Stimming E
-AD - The University of Texas Health Science Center at Houston, Houston, TX 20036, USA.
+AD - Department of Neurology, The University of Texas Health Science Center at
+ Houston, Houston, TX 20036, USA.
FAU - Billingsley, Kimberley
AU - Billingsley K
-AUID- ORCID: 0000-0002-2623-5997
+AUID- ORCID: 0000-0002-8003-4029
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
FAU - Alaofin, Wemimo
AU - Alaofin W
-AD - University of Ilorin, Ilorin, Kwara State, Nigeria.
+AD - Department of Medicine, University of Ilorin, Ilorin, Kwara State 240001,
+ Nigeria.
FAU - Alvarez Jerez, Pilar
AU - Alvarez Jerez P
AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
@@ -12898,8 +15229,10 @@ AD - Department of Clinical and Movement Neurosciences, UCL Queen Square Instit
Neurology, London WC1N 3BG, UK.
FAU - Agabi, Osigwe
AU - Agabi O
-AD - College of Medicine University of Lagos, Idi-araba, Lagos State, Nigeria.
-AD - Lagos University Teaching Hospital, Idi-araba, Lagos State, Nigeria.
+AD - Department of Pharmacology, Therapeutics and Toxicology, College of Medicine
+ University of Lagos, Idi-araba, Lagos State P.M.B 12003, Nigeria.
+AD - Department of Medicine, Neurology Unit, Lagos University Teaching Hospital,
+ Idi-araba, Lagos State 102215, Nigeria.
FAU - Hernandez, Dena G
AU - Hernandez DG
AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
@@ -12907,8 +15240,8 @@ AD - Laboratory of Neurogenetics, National Institute on Aging, National Institu
FAU - Akinyemi, Rufus
AU - Akinyemi R
AD - Neuroscience and Ageing Research Unit, Institute for Advanced Medical Research
- and Training, College of Medicine, University of Ibadan, Ibadan, Oyo State,
- Nigeria.
+ and Training, College of Medicine, University of Ibadan, Ibadan, 200212 Oyo
+ State, Nigeria.
FAU - Arepalli, Sampath
AU - Arepalli S
AD - Laboratory of Neurogenetics, National Institute on Aging, National Institutes of
@@ -12920,22 +15253,25 @@ AD - Center for Alzheimer's and Related Dementias, National Institute on Aging
Health, Bethesda, MD 20892, USA.
FAU - Owolabi, Raymond
AU - Owolabi R
-AD - Federal Medical Center, Owo, Ondo State, Nigeria.
+AD - Neurology Unit, Department of Medicine, Federal Medical Center, Owo, Ondo State
+ 341101, Nigeria.
FAU - Nyandaiti, Yakub
AU - Nyandaiti Y
-AD - University of Maiduguri Teaching Hospital, Maiduguri, Borno State, Nigeria.
+AD - University of Maiduguri Teaching Hospital, Maiduguri, Borno State 600230,
+ Nigeria.
FAU - Leonard, Hampton L
AU - Leonard HL
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Wahab, Kolawole
AU - Wahab K
-AD - University of Ilorin, Ilorin, Kwara State, Nigeria.
+AD - Department of Medicine, University of Ilorin, Ilorin, Kwara State 240001,
+ Nigeria.
FAU - Abiodun, Oladunni
AU - Abiodun O
-AD - General Hospital, Isolo, Lagos State, Nigeria.
+AD - General Hospital, Isolo, Lagos State 100263, Nigeria.
FAU - Hernandez, Carlos F
AU - Hernandez CF
AUID- ORCID: 0000-0002-6412-3777
@@ -12943,60 +15279,62 @@ AD - Universidad del Desarrollo, Centro de Genetica y Genomica, Facultad de Med
Clinica Alemana, Santiago 7610658, Chile.
FAU - Abdulai, Fatima
AU - Abdulai F
-AD - University of Abuja Teaching Hospital, Gwagwalada, Federal Capital Territory,
- Nigeria.
+AD - University of Abuja Teaching Hospital, Gwagwalada, Federal Capital Territory
+ 902101, Nigeria.
FAU - Iwaki, Hirotaka
AU - Iwaki H
AUID- ORCID: 0000-0002-8982-7885
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Bardien, Soraya
AU - Bardien S
AD - Department of Biomedical Sciences, Division of Molecular Biology and Human
Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape
- Town, South Africa.
+ Town 7505, South Africa.
FAU - Klein, Christine
AU - Klein C
AD - Institute of Neurogenetics and Department of Neurology, University of Lubeck and
- University Hospital Schleswig-Holstein, Lubeck, Germany.
+ University Hospital Schleswig-Holstein, Lubeck 23562, Germany.
FAU - Hardy, John
AU - Hardy J
-AD - Reta Lila Weston Institute, University College London Institute of Neurology,
- Queen Square, London, WC1N 1PJ, UK.
+AD - Reta Lila Weston Institute of Neurological Studies, University College
+ London,London WC1N 1PJ, UK.
FAU - Houlden, Henry
AU - Houlden H
AUID- ORCID: 0000-0002-2866-7777
AD - Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology,
- London, WC1N 3BG, UK.
+ London WC1N 3BG, UK.
FAU - Galvelis, Kamalini Ghosh
AU - Galvelis KG
-AD - Parkinson's Foundation, NewYork, NY 10018, USA.
+AD - Parkinson's Foundation, New York, NY 10018, USA.
FAU - Nalls, Mike A
AU - Nalls MA
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
-AD - DataTecnica LLC, Washington, DC, 20037, USA.
+AD - DataTecnica LLC, Washington, DC 20037, USA.
FAU - Dahodwala, Nabila
AU - Dahodwala N
-AD - University of Pennsylvania, Philadelphia, PA 19104, USA.
+AD - Department of Neurology, Parkinson's Disease and Movement Disorder Center,
+ University of Pennsylvania, Philadelphia, PA 19104, USA.
FAU - Aamodt, Whitley
AU - Aamodt W
-AD - University of Pennsylvania, Philadelphia, PA 19104, USA.
+AD - Department of Neurology, Parkinson's Disease and Movement Disorder Center,
+ University of Pennsylvania, Philadelphia, PA 19104, USA.
FAU - Hill, Emily
AU - Hill E
-AD - University of Cincinnati, Cincinnati, OH 45221, USA.
+AD - Department of Neurology, University of Cincinnati, Cincinnati, OH 45221, USA.
FAU - Espay, Alberto
AU - Espay A
-AD - University of Cincinnati, Cincinnati, OH 45221, USA.
+AD - Department of Neurology, University of Cincinnati, Cincinnati, OH 45221, USA.
FAU - Factor, Stewart
AU - Factor S
-AD - Emory University, Atlanta, GA 30322, USA.
+AD - Department of Neurology, Emory University, Atlanta, GA 30322, USA.
FAU - Branson, Chantale
AU - Branson C
-AD - Morehouse College, Atlanta, GA 30314, USA.
+AD - Department of Internal Medicine, Morehouse College, Atlanta, GA 30314, USA.
FAU - Blauwendraat, Cornelis
AU - Blauwendraat C
AUID- ORCID: 0000-0001-9358-8111
@@ -13014,48 +15352,99 @@ AD - Center for Alzheimer's and Related Dementias, National Institute on Aging
Health, Bethesda, MD 20892, USA.
FAU - Ojo, Oluwadamilola
AU - Ojo O
-AD - College of Medicine University of Lagos, Idi-araba, Lagos State, Nigeria.
-AD - Lagos University Teaching Hospital, Idi-araba, Lagos State, Nigeria.
+AD - Department of Pharmacology, Therapeutics and Toxicology, College of Medicine
+ University of Lagos, Idi-araba, Lagos State P.M.B 12003, Nigeria.
+AD - Department of Medicine, Neurology Unit, Lagos University Teaching Hospital,
+ Idi-araba, Lagos State 102215, Nigeria.
FAU - Chahine, Lana M
AU - Chahine LM
-AD - University of Pittsburgh, 3471 Fifth Avenue, Pittsburgh, PA 15213, USA.
+AD - Department of Neurology, University of Pittsburgh, Pittsburgh, PA 15213, USA.
FAU - Okubadejo, Njideka
AU - Okubadejo N
-AD - College of Medicine University of Lagos, Idi-araba, Lagos State, Nigeria.
-AD - Lagos University Teaching Hospital, Idi-araba, Lagos State, Nigeria.
+AD - Department of Pharmacology, Therapeutics and Toxicology, College of Medicine
+ University of Lagos, Idi-araba, Lagos State P.M.B 12003, Nigeria.
+AD - Department of Medicine, Neurology Unit, Lagos University Teaching Hospital,
+ Idi-araba, Lagos State 102215, Nigeria.
FAU - Bandres-Ciga, Sara
AU - Bandres-Ciga S
AD - Center for Alzheimer's and Related Dementias, National Institute on Aging and
National Institute of Neurological Disorders and Stroke, National Institutes of
Health, Bethesda, MD 20892, USA.
LA - eng
+GR - NIH HPC Biowulf cluster/
+GR - Intramural Research Program/
+GR - NIH/
+GR - AG/NIA NIH HHS/United States
+GR - NIA/
+GR - NH/NIH HHS/United States
+GR - ZO1 AG000535/HH/HHS/United States
+GR - AG000949/HH/HHS/United States
+GR - ZIANS003154/NS/NINDS NIH HHS/United States
+GR - HG/NHGRI NIH HHS/United States
+GR - OT2OD032100/NIH STRIDES/
+GR - OT2OD027060/NIH STRIDES/
+GR - OT2OD027852/NIH STRIDES/
+GR - Global Parkinson's Genetics Program/
+GR - Aligning Science Across Parkinson's/
+GR - MJFF-009421/17483/Michael J. Fox Foundation for Parkinson's Research/
+GR - Michael J. Fox Foundation and Aligning Sciences Across Parkinson's Disease Global
+ Parkinson Genetic Program/
+GR - MJFF-026283/Michael J. Fox Foundation/
+GR - Alzheimer's Disease Sequencing Project/
+GR - 5U01AG076482-03/ADSP/
PT - Journal Article
-DEP - 20251008
PL - England
TA - Brain
JT - Brain : a journal of neurology
JID - 0372537
+RN - EC 3.2.1.45 (GBA protein, human)
+RN - EC 3.2.1.45 (Glucosylceramidase)
+RN - EC 3.2.1.21 (beta-Glucosidase)
SB - IM
UOF - medRxiv. 2025 Jan 20:2025.01.14.25320205. doi: 10.1101/2025.01.14.25320205. PMID:
39867380
+MH - Humans
+MH - *Parkinson Disease/genetics/ethnology
+MH - *Black People/genetics
+MH - Male
+MH - Female
+MH - *Genetic Predisposition to Disease/genetics
+MH - Middle Aged
+MH - Mutation/genetics
+MH - Glucosylceramidase/genetics
+MH - Aged
+MH - DNA Copy Number Variations/genetics
+MH - White People/genetics
+MH - Adult
+MH - beta-Glucosidase/genetics
+MH - Cohort Studies
+PMC - PMC13140531
OTO - NOTNLM
OT - African ancestry
OT - Black and African American population
OT - Parkinson's disease
OT - disease-causing mutations
OT - genetics
+COIS- K.L., D.V., M.B.M., H.L.L., H.I., M.J.K. and M.A.N. declare that they are
+ consultants employed by DataTecnica LLC, whose participation in this is part of a
+ consulting agreement between the US National Institutes of Health and said
+ company. M.A.N. also owns stock from Neuron23 Inc and Character Biosciences.
EDAT- 2025/10/08 06:29
-MHDA- 2025/10/08 06:29
+MHDA- 2026/05/05 12:39
+PMCR- 2025/10/08
CRDT- 2025/10/08 05:14
PHST- 2025/01/21 00:00 [received]
PHST- 2025/09/01 00:00 [revised]
-PHST- 2025/10/08 06:29 [medline]
+PHST- 2025/09/14 00:00 [accepted]
+PHST- 2026/05/05 12:39 [medline]
PHST- 2025/10/08 06:29 [pubmed]
PHST- 2025/10/08 05:14 [entrez]
+PHST- 2025/10/08 00:00 [pmc-release]
AID - 8277363 [pii]
+AID - awaf379 [pii]
AID - 10.1093/brain/awaf379 [doi]
-PST - aheadofprint
-SO - Brain. 2025 Oct 8:awaf379. doi: 10.1093/brain/awaf379.
+PST - ppublish
+SO - Brain. 2026 May 5;149(5):1537-1553. doi: 10.1093/brain/awaf379.
PMID- 41030958
OWN - NLM
@@ -13853,7 +16242,7 @@ PMID- 40952044
OWN - NLM
STAT- MEDLINE
DCOM- 20251201
-LR - 20251204
+LR - 20260514
IS - 1098-1136 (Electronic)
IS - 0894-1491 (Print)
IS - 0894-1491 (Linking)
@@ -13930,6 +16319,7 @@ LA - eng
GR - WT_/Wellcome Trust/United Kingdom
GR - Astex Pharmaceuticals/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20250915
PL - United States
TA - Glia
@@ -14085,7 +16475,7 @@ PMID- 40940631
OWN - NLM
STAT- MEDLINE
DCOM- 20251101
-LR - 20260127
+LR - 20260530
IS - 1867-0687 (Electronic)
IS - 1708-8569 (Print)
VI - 21
@@ -14179,6 +16569,7 @@ GR - 82373971/National Natural Science Foundation of China/
GR - 2023YFC2706100/Key Technologies Research and Development Program/
PT - Journal Article
PT - Multicenter Study
+PT - Research Support, Non-U.S. Gov't
DEP - 20250912
PL - Switzerland
TA - World J Pediatr
@@ -14526,7 +16917,7 @@ PMID- 40919939
OWN - NLM
STAT- MEDLINE
DCOM- 20251022
-LR - 20251024
+LR - 20260524
IS - 1098-5336 (Electronic)
IS - 0099-2240 (Print)
IS - 0099-2240 (Linking)
@@ -14570,97 +16961,85 @@ AB - Xanthomonas oryzae pv. oryzicola is a pathogen of rice responsible for bac
FAU - Sicard, Anne
AU - Sicard A
AD - Univ Montpellier, IRD, CIRAD, INRAE, Institut Agro, Plant Health Institute of
- Montpellier, Montpellier, France. RINGGOLD: 740764. ROR:
- https://ror.org/05y5s3h28
-AD - INRAE, UMR SVQV, Universite de Strasbourg, Colmar, France. RINGGOLD: 27083. ROR:
- https://ror.org/00pg6eq24
+ Montpellier, Montpellier, France.
+AD - INRAE, UMR SVQV, Universite de Strasbourg, Colmar, France.
FAU - Carpenter, Sara C D
AU - Carpenter SCD
AD - Plant Pathology and Plant-Microbe Biology Section, School of Integrative Plant
- Science, Cornell University, Ithaca, New York, USA. RINGGOLD: 517685. ROR:
- https://ror.org/05bnh6r87
+ Science, Cornell University, Ithaca, New York, USA.
FAU - Diallo, Amadou
AU - Diallo A
AD - Univ Montpellier, IRD, CIRAD, INRAE, Institut Agro, Plant Health Institute of
- Montpellier, Montpellier, France. RINGGOLD: 740764. ROR:
- https://ror.org/05y5s3h28
+ Montpellier, Montpellier, France.
FAU - Baruah, Shivranjani
AU - Baruah S
AD - Plant Pathology and Plant-Microbe Biology Section, School of Integrative Plant
- Science, Cornell University, Ithaca, New York, USA. RINGGOLD: 517685. ROR:
- https://ror.org/05bnh6r87
+ Science, Cornell University, Ithaca, New York, USA.
FAU - Tekete, Cheick
AU - Tekete C
AD - Laboratoire de Biologie Moleculaire Appliquee, des Techniques et des Technologies
de Bamako, Faculte des Sciences et Techniques, Universite des Sciences, Bamako,
- Mali. RINGGOLD: 225803. ROR: https://ror.org/023rbaw78
+ Mali.
FAU - Konate, Lazeni
AU - Konate L
AD - Laboratoire de Biologie Moleculaire Appliquee, des Techniques et des Technologies
de Bamako, Faculte des Sciences et Techniques, Universite des Sciences, Bamako,
- Mali. RINGGOLD: 225803. ROR: https://ror.org/023rbaw78
+ Mali.
FAU - Keita, Ibrahim
AU - Keita I
AD - Laboratoire de Biologie Moleculaire Appliquee, des Techniques et des Technologies
de Bamako, Faculte des Sciences et Techniques, Universite des Sciences, Bamako,
- Mali. RINGGOLD: 225803. ROR: https://ror.org/023rbaw78
+ Mali.
FAU - Doucoure, Hinda
AU - Doucoure H
AD - Laboratoire de Biologie Moleculaire Appliquee, des Techniques et des Technologies
de Bamako, Faculte des Sciences et Techniques, Universite des Sciences, Bamako,
- Mali. RINGGOLD: 225803. ROR: https://ror.org/023rbaw78
+ Mali.
FAU - Nguyen, Phuong Duy
AU - Nguyen PD
AD - Department of Molecular Pathology, Agricultural Genetics Institute, Hanoi,
- Vietnam. ROR: https://ror.org/05sswkg52
+ Vietnam.
FAU - Cao, Quyen Le
AU - Cao QL
AD - Department of Molecular Pathology, Agricultural Genetics Institute, Hanoi,
- Vietnam. ROR: https://ror.org/05sswkg52
+ Vietnam.
FAU - Sarra, Soungalo
AU - Sarra S
AD - Centre Regional de Recherche Agronomique de Niono, Institut d'Economie Rural,
- Bamako, Mali. RINGGOLD: 612900. ROR: https://ror.org/01c5j0443
+ Bamako, Mali.
FAU - Dembele, Mamadou
AU - Dembele M
AD - Centre Regional de Recherche Agronomique de Niono, Institut d'Economie Rural,
- Bamako, Mali. RINGGOLD: 612900. ROR: https://ror.org/01c5j0443
+ Bamako, Mali.
FAU - Tollenaere, Charlotte
AU - Tollenaere C
AD - Univ Montpellier, IRD, CIRAD, INRAE, Institut Agro, Plant Health Institute of
- Montpellier, Montpellier, France. RINGGOLD: 740764. ROR:
- https://ror.org/05y5s3h28
+ Montpellier, Montpellier, France.
FAU - Poulin, Lucie
AU - Poulin L
AD - Univ Montpellier, IRD, CIRAD, INRAE, Institut Agro, Plant Health Institute of
- Montpellier, Montpellier, France. RINGGOLD: 740764. ROR:
- https://ror.org/05y5s3h28
+ Montpellier, Montpellier, France.
FAU - Tall, Hamidou
AU - Tall H
AD - Univ Montpellier, IRD, CIRAD, INRAE, Institut Agro, Plant Health Institute of
- Montpellier, Montpellier, France. RINGGOLD: 740764. ROR:
- https://ror.org/05y5s3h28
-AD - Institut Senegalais de Recherches Agricoles, Kolda, Senegal. RINGGOLD: 206826.
- ROR: https://ror.org/04z4j3y75
+ Montpellier, Montpellier, France.
+AD - Institut Senegalais de Recherches Agricoles, Kolda, Senegal.
FAU - Blondin, Laurence
AU - Blondin L
AD - Univ Montpellier, IRD, CIRAD, INRAE, Institut Agro, Plant Health Institute of
- Montpellier, Montpellier, France. RINGGOLD: 740764. ROR:
- https://ror.org/05y5s3h28
+ Montpellier, Montpellier, France.
FAU - Verdier, Valerie
AU - Verdier V
AD - Univ Montpellier, IRD, CIRAD, INRAE, Institut Agro, Plant Health Institute of
- Montpellier, Montpellier, France. RINGGOLD: 740764. ROR:
- https://ror.org/05y5s3h28
+ Montpellier, Montpellier, France.
FAU - Koebnik, Ralf
AU - Koebnik R
AD - Univ Montpellier, IRD, CIRAD, INRAE, Institut Agro, Plant Health Institute of
- Montpellier, Montpellier, France. RINGGOLD: 740764. ROR:
- https://ror.org/05y5s3h28
+ Montpellier, Montpellier, France.
FAU - Zougrana, Sylvain
AU - Zougrana S
AD - INERA, Institut de l'Environnement et de Recherches Agricoles, Bobo-Dioulasso,
- Burkina Faso. RINGGOLD: 317957. ROR: https://ror.org/018zj0h25
+ Burkina Faso.
FAU - Raveloson, Harinjaka
AU - Raveloson H
AD - Centre Regional de Recherche du FOFIFA/DP SPAD, Antsirabe, Madagascar.
@@ -14669,58 +17048,50 @@ FAU - Gagnevin, Lionel
AU - Gagnevin L
AUID- ORCID: 0000-0002-2943-0827
AD - Univ Montpellier, IRD, CIRAD, INRAE, Institut Agro, Plant Health Institute of
- Montpellier, Montpellier, France. RINGGOLD: 740764. ROR:
- https://ror.org/05y5s3h28
+ Montpellier, Montpellier, France.
FAU - Onaga, Geoffrey
AU - Onaga G
-AD - National Agricultural Research Organization, Kampala, Uganda. RINGGOLD: 128532.
- ROR: https://ror.org/05rmt1x67
-AD - Africa Rice Center, Bouake, Cote d'Ivoire. RINGGOLD: 102689. ROR:
- https://ror.org/040y9br29
+AD - National Agricultural Research Organization, Kampala, Uganda.
+AD - Africa Rice Center, Bouake, Cote d'Ivoire.
FAU - Cunnac, Sebastien
AU - Cunnac S
AUID- ORCID: 0000-0002-3695-491X
AD - Univ Montpellier, IRD, CIRAD, INRAE, Institut Agro, Plant Health Institute of
- Montpellier, Montpellier, France. RINGGOLD: 740764. ROR:
- https://ror.org/05y5s3h28
+ Montpellier, Montpellier, France.
FAU - Verniere, Christian
AU - Verniere C
AD - Univ Montpellier, IRD, CIRAD, INRAE, Institut Agro, Plant Health Institute of
- Montpellier, Montpellier, France. RINGGOLD: 740764. ROR:
- https://ror.org/05y5s3h28
+ Montpellier, Montpellier, France.
FAU - Wonni, Issa
AU - Wonni I
AD - INERA, Institut de l'Environnement et de Recherches Agricoles, Bobo-Dioulasso,
- Burkina Faso. RINGGOLD: 317957. ROR: https://ror.org/018zj0h25
+ Burkina Faso.
FAU - Koita, Ousmane
AU - Koita O
AD - Laboratoire de Biologie Moleculaire Appliquee, des Techniques et des Technologies
de Bamako, Faculte des Sciences et Techniques, Universite des Sciences, Bamako,
- Mali. RINGGOLD: 225803. ROR: https://ror.org/023rbaw78
+ Mali.
FAU - Szurek, Boris
AU - Szurek B
AD - Univ Montpellier, IRD, CIRAD, INRAE, Institut Agro, Plant Health Institute of
- Montpellier, Montpellier, France. RINGGOLD: 740764. ROR:
- https://ror.org/05y5s3h28
+ Montpellier, Montpellier, France.
FAU - Bogdanove, Adam
AU - Bogdanove A
AD - Plant Pathology and Plant-Microbe Biology Section, School of Integrative Plant
- Science, Cornell University, Ithaca, New York, USA. RINGGOLD: 517685. ROR:
- https://ror.org/05bnh6r87
+ Science, Cornell University, Ithaca, New York, USA.
FAU - Hutin, Mathilde
AU - Hutin M
AUID- ORCID: 0000-0002-8483-391X
AD - Univ Montpellier, IRD, CIRAD, INRAE, Institut Agro, Plant Health Institute of
- Montpellier, Montpellier, France. RINGGOLD: 740764. ROR:
- https://ror.org/05y5s3h28
+ Montpellier, Montpellier, France.
AD - Plant Pathology and Plant-Microbe Biology Section, School of Integrative Plant
- Science, Cornell University, Ithaca, New York, USA. RINGGOLD: 517685. ROR:
- https://ror.org/05bnh6r87
+ Science, Cornell University, Ithaca, New York, USA.
LA - eng
GR - ANR-16-IDEX-0006/Agence Nationale de la Recherche/
GR - ANR-10-LABX-001-01/Agence Nationale de la Recherche/
GR - IOS-1444511/National Science Foundation/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20250908
PL - United States
TA - Appl Environ Microbiol
@@ -17275,7 +19646,7 @@ PMID- 40796049
OWN - NLM
STAT- MEDLINE
DCOM- 20250831
-LR - 20260405
+LR - 20260528
IS - 1096-1186 (Electronic)
IS - 1043-6618 (Linking)
VI - 219
@@ -17443,7 +19814,8 @@ JID - 8907422
SB - IM
EIN - Pharmacol Res. 2025 Oct;220:107934. doi: 10.1016/j.phrs.2025.107934. PMID:
40877085
-EIN - Pharmacol Res. 2026 Apr 3:108182. doi: 10.1016/j.phrs.2026.108182. PMID: 41935907
+EIN - Pharmacol Res. 2026 May;227:108182. doi: 10.1016/j.phrs.2026.108182. PMID:
+ 41935907
MH - *Huntington Disease/therapy/physiopathology/genetics
MH - Animals
MH - Humans
@@ -17488,7 +19860,7 @@ PMID- 40788430
OWN - NLM
STAT- MEDLINE
DCOM- 20250811
-LR - 20260326
+LR - 20260529
IS - 1364-6753 (Electronic)
IS - 1364-6745 (Print)
IS - 1364-6745 (Linking)
@@ -17588,9 +19960,6 @@ AD - Department of Pediatrics, Division of Medical Genetics and Genomic Medicin
LA - eng
GR - R01 GM140287/GM/NIGMS NIH HHS/United States
GR - R01 HG011138/HG/NHGRI NIH HHS/United States
-GR - U01 HG007674/HG/NHGRI NIH HHS/United States
-GR - U01 NS134349/NS/NINDS NIH HHS/United States
-GR - P50 HD103537/HD/NICHD NIH HHS/United States
GR - R01 MH126459/MH/NIMH NIH HHS/United States
GR - R56 AG089926/AG/NIA NIH HHS/United States
PT - Case Reports
@@ -19082,7 +21451,7 @@ PMID- 40704449
OWN - NLM
STAT- MEDLINE
DCOM- 20250724
-LR - 20260307
+LR - 20260519
IS - 1552-5279 (Electronic)
IS - 1552-5260 (Print)
IS - 1552-5260 (Linking)
@@ -19407,6 +21776,7 @@ GR - P30 AG072979/AG/NIA NIH HHS/United States
GR - RF1 AG058267/AG/NIA NIH HHS/United States
GR - R01 AG015819/AG/NIA NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
PL - United States
TA - Alzheimers Dement
JT - Alzheimer's & dementia : the journal of the Alzheimer's Association
@@ -23257,7 +25627,7 @@ PMID- 40417743
OWN - NLM
STAT- MEDLINE
DCOM- 20250803
-LR - 20260416
+LR - 20260523
IS - 1530-0366 (Electronic)
IS - 1098-3600 (Print)
IS - 1098-3600 (Linking)
@@ -23382,10 +25752,12 @@ AD - Dr John T. Macdonald Foundation Department of Human Genetics and John P. H
Institute for Human Genetics, University of Miami Miller School of Medicine,
Miami, FL. Electronic address: szuchner@med.miami.edu.
LA - eng
-GR - K99 HG012796/HG/NHGRI NIH HHS/United States
GR - R00 HG012796/HG/NHGRI NIH HHS/United States
-GR - RC2 TR004391/TR/NCATS NIH HHS/United States
GR - U01 NS134353/NS/NINDS NIH HHS/United States
+GR - U01 HG007672/HG/NHGRI NIH HHS/United States
+GR - RC2 TR004391/TR/NCATS NIH HHS/United States
+GR - K99 HG012796/HG/NHGRI NIH HHS/United States
+GR - U01 NS134350/NS/NINDS NIH HHS/United States
PT - Journal Article
DEP - 20250522
PL - United States
@@ -24055,10 +26427,10 @@ CRDT- 2025/05/26 06:18
PHST- 2024/08/07 00:00 [received]
PHST- 2025/05/15 00:00 [revised]
PHST- 2025/05/16 00:00 [accepted]
-PHST- 2026/05/22 00:00 [pmc-release]
PHST- 2025/08/03 12:31 [medline]
PHST- 2025/05/26 12:37 [pubmed]
PHST- 2025/05/26 06:18 [entrez]
+PHST- 2026/05/22 00:00 [pmc-release]
AID - S1098-3600(25)00109-1 [pii]
AID - 10.1016/j.gim.2025.101462 [doi]
PST - ppublish
@@ -27999,7 +30371,7 @@ PMID- 40138663
OWN - NLM
STAT- MEDLINE
DCOM- 20250414
-LR - 20250504
+LR - 20260507
IS - 1549-5469 (Electronic)
IS - 1088-9051 (Print)
IS - 1088-9051 (Linking)
@@ -28298,6 +30670,8 @@ CN - Solve-RD consortium
LA - eng
GR - R01 NS072248/NS/NINDS NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
+PT - Research Support, Non-U.S. Gov't
DEP - 20250414
PL - United States
TA - Genome Res
@@ -28332,6 +30706,7 @@ AID - 10.1101/gr.279414.124 [doi]
PST - epublish
SO - Genome Res. 2025 Apr 14;35(4):755-768. doi: 10.1101/gr.279414.124.
+
PMID- 40136449
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -28710,7 +31085,7 @@ PMID- 40113266
OWN - NLM
STAT- MEDLINE
DCOM- 20250414
-LR - 20250504
+LR - 20260507
IS - 1549-5469 (Electronic)
IS - 1088-9051 (Print)
IS - 1088-9051 (Linking)
@@ -28847,7 +31222,10 @@ AD - Department of Internal Medicine, Radboud Expertise Center for Immunodefici
and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud
University Medical Center, 6525GA Nijmegen, the Netherlands.
LA - eng
+GR - 779257/ERC_/European Research Council/International
+GR - 101156595/ERC_/European Research Council/International
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20250414
PL - United States
TA - Genome Res
@@ -28887,7 +31265,7 @@ PMID- 40113264
OWN - NLM
STAT- MEDLINE
DCOM- 20250414
-LR - 20250504
+LR - 20260507
IS - 1549-5469 (Electronic)
IS - 1088-9051 (Print)
IS - 1088-9051 (Linking)
@@ -29033,6 +31411,8 @@ AD - Department of Biomedical Engineering, Johns Hopkins University, Baltimore,
AD - Department of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland
21218, USA.
LA - eng
+SI - dbGaP/phs001232
+SI - dbGaP/phs000424
GR - U24 HG010263/HG/NHGRI NIH HHS/United States
GR - R01 AG048076/AG/NIA NIH HHS/United States
GR - R21 HG013397/HG/NHGRI NIH HHS/United States
@@ -29054,6 +31434,8 @@ GR - R03 CA272952/CA/NCI NIH HHS/United States
GR - S10 OD025082/OD/NIH HHS/United States
GR - OT2 OD034190/OD/NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
+PT - Research Support, Non-U.S. Gov't
DEP - 20250414
PL - United States
TA - Genome Res
@@ -29823,7 +32205,7 @@ PMID- 40015980
OWN - NLM
STAT- MEDLINE
DCOM- 20250414
-LR - 20251002
+LR - 20260507
IS - 1549-5469 (Electronic)
IS - 1088-9051 (Print)
IS - 1088-9051 (Linking)
@@ -30075,6 +32457,7 @@ AD - Department of Paediatrics, University of Melbourne, Royal Children's Hospi
LA - eng
PT - Comparative Study
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20250414
PL - United States
TA - Genome Res
@@ -31314,7 +33697,6 @@ PST - ppublish
SO - Eur J Hum Genet. 2025 Sep;33(9):1106-1112. doi: 10.1038/s41431-025-01811-2. Epub
2025 Feb 16.
-
PMID- 39937857
OWN - NLM
STAT- MEDLINE
@@ -36156,7 +38538,7 @@ PMID- 39604554
OWN - NLM
STAT- MEDLINE
DCOM- 20250426
-LR - 20250610
+LR - 20260518
IS - 1476-5438 (Electronic)
IS - 1018-4813 (Print)
IS - 1018-4813 (Linking)
@@ -36481,7 +38863,7 @@ PMID- 39571249
OWN - NLM
STAT- MEDLINE
DCOM- 20241212
-LR - 20241212
+LR - 20260506
IS - 1878-5883 (Electronic)
IS - 0022-510X (Linking)
VI - 467
@@ -37294,7 +39676,7 @@ SO - Front Vet Sci. 2024 Oct 21;11:1481934. doi: 10.3389/fvets.2024.1481934.
PMID- 39484566
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20250729
+LR - 20260519
IS - 2692-8205 (Electronic)
IS - 2692-8205 (Linking)
DP - 2024 Oct 27
@@ -37831,7 +40213,7 @@ SO - NPJ Genom Med. 2024 Oct 25;9(1):48. doi: 10.1038/s41525-024-00429-5.
PMID- 39420034
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20241020
+LR - 20260518
IS - 2373-8057 (Print)
IS - 2373-8057 (Electronic)
IS - 2373-8057 (Linking)
@@ -39317,7 +41699,7 @@ PMID- 39313615
OWN - NLM
STAT- MEDLINE
DCOM- 20241108
-LR - 20251103
+LR - 20260518
IS - 1546-1718 (Electronic)
IS - 1061-4036 (Print)
IS - 1061-4036 (Linking)
@@ -41121,7 +43503,7 @@ PMID- 39138584
OWN - NLM
STAT- MEDLINE
DCOM- 20240814
-LR - 20240816
+LR - 20260518
IS - 1750-1172 (Electronic)
IS - 1750-1172 (Linking)
VI - 19
@@ -41337,6 +43719,7 @@ GR - BT/PR39587/MED/12/851/2020/Department of Biotechnology, Government of Indi
GR - BT/PR4112/MED/12/654/2014/Department of Biotechnology, Government of India/
GR - GSBTM/JDR and D/608/2020/459-461/Gujarat State Biotech Mission/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20240813
PL - England
TA - Orphanet J Rare Dis
@@ -41856,7 +44239,7 @@ PMID- 39088078
OWN - NLM
STAT- MEDLINE
DCOM- 20240801
-LR - 20250623
+LR - 20260518
IS - 1432-0533 (Electronic)
IS - 0001-6322 (Print)
IS - 0001-6322 (Linking)
@@ -44977,7 +47360,7 @@ PMID- 38852112
OWN - NLM
STAT- MEDLINE
DCOM- 20240812
-LR - 20240817
+LR - 20260518
IS - 1432-1459 (Electronic)
IS - 0340-5354 (Print)
IS - 0340-5354 (Linking)
@@ -45452,7 +47835,7 @@ PMID- 38773661
OWN - NLM
STAT- MEDLINE
DCOM- 20240522
-LR - 20260127
+LR - 20260515
IS - 1750-1172 (Electronic)
IS - 1750-1172 (Linking)
VI - 19
@@ -45531,6 +47914,7 @@ AD - Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gyneco
kongxd@263.net.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20240521
PL - England
TA - Orphanet J Rare Dis
@@ -48415,7 +50799,7 @@ SO - Commun Biol. 2024 Apr 10;7(1):438. doi: 10.1038/s42003-024-06143-3.
PMID- 38585854
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20241207
+LR - 20260506
DP - 2024 Mar 26
TI - Long-read genome sequencing and variant reanalysis increase diagnostic yield in
neurodevelopmental disorders.
@@ -50441,8 +52825,9 @@ PMID- 38374498
OWN - NLM
STAT- MEDLINE
DCOM- 20240501
-LR - 20260326
+LR - 20260528
IS - 1399-0004 (Electronic)
+IS - 0009-9163 (Print)
IS - 0009-9163 (Linking)
VI - 105
IP - 6
@@ -50650,8 +53035,10 @@ OT - epilepsy
OT - genetic testing
OT - genetics
OT - therapeutic implications
+COIS- Conflict of interest The authors have no conflicts of interest to disclose.
EDAT- 2024/02/20 11:50
MHDA- 2024/05/02 00:49
+PMCR- 2025/06/01
CRDT- 2024/02/20 00:16
PHST- 2024/01/13 00:00 [revised]
PHST- 2023/11/13 00:00 [received]
@@ -50659,6 +53046,7 @@ PHST- 2024/01/23 00:00 [accepted]
PHST- 2024/05/02 00:49 [medline]
PHST- 2024/02/20 11:50 [pubmed]
PHST- 2024/02/20 00:16 [entrez]
+PHST- 2025/06/01 00:00 [pmc-release]
AID - 10.1111/cge.14495 [doi]
PST - ppublish
SO - Clin Genet. 2024 Jun;105(6):639-654. doi: 10.1111/cge.14495. Epub 2024 Feb 19.
@@ -51408,7 +53796,7 @@ PMID- 38266156
OWN - NLM
STAT- MEDLINE
DCOM- 20240322
-LR - 20241106
+LR - 20260530
IS - 1362-4962 (Electronic)
IS - 0305-1048 (Print)
IS - 0305-1048 (Linking)
@@ -51487,11 +53875,13 @@ AD - Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Ac
AD - Institute of Molecular Medicine (IMM) Renji Hospital, School of Medicine,
Shanghai Jiao Tong University, Shanghai 200127, China.
LA - eng
+SI - PDB/8X1V
GR - 2021YFA0909400/National Key Research and Development Program of China/
GR - 32341017/National Natural Science Foundation of China/
GR - 2023SDYXS0002/Zhejiang Provincial Jianbing Lingyan Research and Development
Project/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
PL - England
TA - Nucleic Acids Res
JT - Nucleic acids research
@@ -57188,6 +59578,7 @@ AID - 10.3390/genes14081518 [doi]
PST - epublish
SO - Genes (Basel). 2023 Jul 25;14(8):1518. doi: 10.3390/genes14081518.
+
PMID- 37593836
OWN - NLM
STAT- MEDLINE
@@ -59475,7 +61866,6 @@ AID - 10.1186/s40478-023-01582-1 [doi]
PST - epublish
SO - Acta Neuropathol Commun. 2023 Jun 2;11(1):90. doi: 10.1186/s40478-023-01582-1.
-
PMID- 37245506
OWN - NLM
STAT- MEDLINE
@@ -60440,7 +62830,7 @@ PMID- 37165652
OWN - NLM
STAT- MEDLINE
DCOM- 20231010
-LR - 20260127
+LR - 20260518
IS - 1460-2156 (Electronic)
IS - 0006-8950 (Linking)
VI - 146
@@ -70291,7 +72681,7 @@ PMID- 36352383
OWN - NLM
STAT- MEDLINE
DCOM- 20221115
-LR - 20221116
+LR - 20260518
IS - 1741-7015 (Electronic)
IS - 1741-7015 (Linking)
VI - 20
@@ -71818,7 +74208,7 @@ PMID- 36208204
OWN - NLM
STAT- MEDLINE
DCOM- 20230224
-LR - 20230318
+LR - 20260518
IS - 1537-6591 (Electronic)
IS - 1058-4838 (Print)
IS - 1058-4838 (Linking)
@@ -75386,19 +77776,20 @@ SO - Acta Neuropathol. 2022 Sep;144(3):437-464. doi: 10.1007/s00401-022-02470-z
PMID- 35868859
OWN - NLM
-STAT- Publisher
-LR - 20240216
+STAT- MEDLINE
+DCOM- 20260512
+LR - 20260512
IS - 2373-2822 (Electronic)
IS - 2373-2822 (Linking)
VI - 9
IP - 4
-DP - 2022 Jul 21
-TI - Variation in TAF1 expression in female carrier induced pluripotent stem cells and
- human brain ontogeny has implications for adult neostriatum vulnerability in
- X-linked Dystonia Parkinsonism.
+DP - 2022 Jul-Aug
+TI - Variation in TAF1 Expression in Female Carrier-Induced Pluripotent Stem Cells and
+ Human Brain Ontogeny Has Implications for Adult Neostriatum Vulnerability in
+ X-Linked Dystonia Parkinsonism.
LID - ENEURO.0129-22.2022 [pii]
LID - 10.1523/ENEURO.0129-22.2022 [doi]
-AB - X-linked Dystonia-Parkinsonism (XDP) is an inherited, X-linked, adult-onset
+AB - X-linked dystonia-parkinsonism (XDP) is an inherited, X-linked, adult-onset
movement disorder characterized by degeneration in the neostriatum. No
therapeutics alter disease progression. The mechanisms underlying regional
differences in degeneration and adult onset are unknown. Developing therapeutics
@@ -75409,155 +77800,162 @@ AB - X-linked Dystonia-Parkinsonism (XDP) is an inherited, X-linked, adult-onse
all XDP males are usually clinically affected, females are heterozygous carriers
generally not manifesting the full syndrome. As a resource for disease modeling,
we characterized eight iPSC lines from three XDP female carrier individuals for X
- chromosome inactivation status and identified clonal lines that express either
- the wild-type X or XDP haplotype. Furthermore, we characterized XDP-relevant
- transcript expression in neurotypical humans, and found that SVA-F expression
- decreases after 30 years of age in the brain and that TAF1 is decreased in most
- female samples. Uniquely in the caudate nucleus, TAF1 expression is not sexually
- dimorphic and decreased after adolescence. These findings indicate that
- regional-, age- and sex-specific mechanisms regulate TAF1, highlighting the
- importance of disease-relevant models and postmortem tissue. We propose that the
- decreased TAF1 expression in the adult caudate may synergize with the
- XDP-specific partial loss of TAF1 function in patients, thereby passing a minimum
- threshold of TAF1 function, and triggering degeneration in the
- neostriatum.Significance StatementXDP is an inherited, X-linked, adult-onset
- movement disorder characterized by degeneration in the neostriatum. No
- therapeutics alter disease progression. Developing therapeutics requires a deeper
- understanding of how XDP-relevant features vary in health and disease. XDP is
- possibly due to a partial loss of TAF1 function. While all XDP males are usually
- affected, females are heterozygous carriers generally not manifesting the full
- syndrome. As a resource for disease modeling, we characterized eight stem cell
- lines from XDP female carrier individuals. Furthermore, we found that, uniquely
- in the caudate nucleus, TAF1 expression decreases after adolescence in healthy
- humans. We hypothesize that the decrease of TAF1 after adolescence in human
- caudate, in general, may underlie the vulnerability of the adult neostriatum in
- XDP.
+ chromosome inactivation (XCI) status and identified clonal lines that express
+ either the wild-type X or XDP haplotype. Furthermore, we characterized
+ XDP-relevant transcript expression in neurotypical humans, and found that SVA-F
+ expression decreases after 30 years of age in the brain and that TAF1 is
+ decreased in most female samples. Uniquely in the caudate nucleus, TAF1
+ expression is not sexually dimorphic and decreased after adolescence. These
+ findings indicate that regional-specific, age-specific, and sex-specific
+ mechanisms regulate TAF1, highlighting the importance of disease-relevant models
+ and postmortem tissue. We propose that the decreased TAF1 expression in the adult
+ caudate may synergize with the XDP-specific partial loss of TAF1 function in
+ patients, thereby passing a minimum threshold of TAF1 function, and triggering
+ degeneration in the neostriatum.
CI - Copyright (c) 2022 D'Ignazio et al.
FAU - D'Ignazio, Laura
AU - D'Ignazio L
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
FAU - Jacomini, Ricardo S
AU - Jacomini RS
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
FAU - Qamar, Bareera
AU - Qamar B
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
FAU - Benjamin, Kynon J M
AU - Benjamin KJM
AUID- ORCID: 0000-0003-2016-4646
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
AD - Department of Psychiatry & Behavioral Sciences, School of Medicine, Johns Hopkins
- University, Baltimore, MD 21205, USA.
+ University, Baltimore, MD 21205.
FAU - Arora, Ria
AU - Arora R
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Biology, Krieger School of Arts & Sciences, Johns Hopkins
- University, Baltimore, MD 21218, USA.
+ University, Baltimore, MD 21218.
FAU - Sawada, Tomoyo
AU - Sawada T
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
FAU - Evans, Taylor A
AU - Evans TA
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
FAU - Diffenderfer, Kenneth E
AU - Diffenderfer KE
-AD - Stem Cell Core, Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
+AD - Stem Cell Core, Salk Institute for Biological Studies, La Jolla, CA 92037.
FAU - Pankonin, Aimee R
AU - Pankonin AR
-AD - Stem Cell Core, Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
+AD - Stem Cell Core, Salk Institute for Biological Studies, La Jolla, CA 92037.
FAU - Hendriks, William T
AU - Hendriks WT
-AD - Department of Neurology, Massachusetts General Hospital and Harvard Medical
- School, Boston, MA 02114, USA.
+AD - Department of Neurology, Massachusetts General Hospital, Harvard Medical School,
+ Boston, MA 02114.
AD - The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts
- General Hospital, Charlestown, MA 02129, USA.
+ General Hospital, Charlestown, MA 02129.
FAU - Hyde, Thomas M
AU - Hyde TM
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Psychiatry & Behavioral Sciences, School of Medicine, Johns Hopkins
- University, Baltimore, MD 21205, USA.
+ University, Baltimore, MD 21205.
FAU - Kleinman, Joel E
AU - Kleinman JE
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Psychiatry & Behavioral Sciences, School of Medicine, Johns Hopkins
- University, Baltimore, MD 21205, USA.
+ University, Baltimore, MD 21205.
FAU - Weinberger, Daniel R
AU - Weinberger DR
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
AD - Department of Psychiatry & Behavioral Sciences, School of Medicine, Johns Hopkins
- University, Baltimore, MD 21205, USA.
+ University, Baltimore, MD 21205.
AD - Department of Neuroscience, School of Medicine, Johns Hopkins University,
- Baltimore, MD 21205, USA.
+ Baltimore, MD 21205.
AD - McKusick-Nathans Department of Genetic Medicine, School of Medicine, Johns
- Hopkins University Baltimore, MD 21205, USA.
+ Hopkins University, Baltimore, MD 21205.
FAU - Bragg, D Cristopher
AU - Bragg DC
-AD - Department of Neurology, Massachusetts General Hospital and Harvard Medical
- School, Boston, MA 02114, USA.
+AD - Department of Neurology, Massachusetts General Hospital, Harvard Medical School,
+ Boston, MA 02114.
AD - The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts
- General Hospital, Charlestown, MA 02129, USA.
+ General Hospital, Charlestown, MA 02129.
FAU - Paquola, Apua C M
AU - Paquola ACM
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA.
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
FAU - Erwin, Jennifer A
AU - Erwin JA
AUID- ORCID: 0000-0002-6784-9290
-AD - Lieber Institute for Brain Development, Baltimore, MD 21205, USA
+AD - Lieber Institute for Brain Development, Baltimore, MD 21205
jennifer.erwin@libd.org.
AD - Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore,
- MD 21205, USA.
+ MD 21205.
AD - Department of Psychiatry & Behavioral Sciences, School of Medicine, Johns Hopkins
- University, Baltimore, MD 21205, USA.
+ University, Baltimore, MD 21205.
AD - Department of Neuroscience, School of Medicine, Johns Hopkins University,
- Baltimore, MD 21205, USA.
+ Baltimore, MD 21205.
LA - eng
GR - T32 MH015330/MH/NIMH NIH HHS/United States
PT - Journal Article
-DEP - 20220721
+DEP - 20220830
PL - United States
TA - eNeuro
JT - eNeuro
JID - 101647362
+RN - 0 (Transcription Factor TFIID)
+RN - 0 (TATA-Binding Protein Associated Factors)
+RN - EC 2.7.11.1 (TATA-binding protein associated factor 250 kDa)
+RN - EC 2.3.1.48 (Histone Acetyltransferases)
+RN - Dystonia 3, Torsion, X-Linked
SB - IM
+MH - Humans
+MH - *Transcription Factor TFIID/metabolism/genetics
+MH - *TATA-Binding Protein Associated Factors/metabolism/genetics
+MH - Female
+MH - *Genetic Diseases, X-Linked/metabolism/genetics/pathology
+MH - *Dystonic Disorders/genetics/metabolism/pathology
+MH - *Induced Pluripotent Stem Cells/metabolism
+MH - *Histone Acetyltransferases/metabolism/genetics
+MH - Adult
+MH - Male
+MH - Heterozygote
+MH - *Brain/metabolism/growth & development
+MH - X Chromosome Inactivation
PMC - PMC9428949
OTO - NOTNLM
OT - SVA retrotransposon
-OT - X-linked Dystonia Parkinsonism
+OT - X-linked dystonia parkinsonism
OT - induced pluripotent stem cells
OT - movement disorder
OT - neurodegeneration
OT - repeat expansion
-COIS- Authors report no conflict of interest
EDAT- 2022/07/23 06:00
-MHDA- 2022/07/23 06:00
+MHDA- 2026/05/12 06:36
PMCR- 2022/08/17
CRDT- 2022/07/22 21:41
PHST- 2022/03/24 00:00 [received]
PHST- 2022/06/14 00:00 [revised]
PHST- 2022/07/03 00:00 [accepted]
-PHST- 2022/07/22 21:41 [entrez]
+PHST- 2026/05/12 06:36 [medline]
PHST- 2022/07/23 06:00 [pubmed]
-PHST- 2022/07/23 06:00 [medline]
+PHST- 2022/07/22 21:41 [entrez]
PHST- 2022/08/17 00:00 [pmc-release]
AID - ENEURO.0129-22.2022 [pii]
AID - eN-NWR-0129-22 [pii]
AID - 10.1523/ENEURO.0129-22.2022 [doi]
-PST - aheadofprint
-SO - eNeuro. 2022 Jul 21;9(4):ENEURO.0129-22.2022. doi: 10.1523/ENEURO.0129-22.2022.
+PST - epublish
+SO - eNeuro. 2022 Aug 30;9(4):ENEURO.0129-22.2022. doi: 10.1523/ENEURO.0129-22.2022.
+ Print 2022 Jul-Aug.
PMID- 35867854
OWN - NLM
@@ -80410,7 +82808,7 @@ PMID- 35182509
OWN - NLM
STAT- MEDLINE
DCOM- 20220321
-LR - 20260127
+LR - 20260518
IS - 1474-4465 (Electronic)
IS - 1474-4422 (Print)
IS - 1474-4422 (Linking)
@@ -87313,7 +89711,7 @@ PMID- 34372915
OWN - NLM
STAT- MEDLINE
DCOM- 20220216
-LR - 20220216
+LR - 20260518
IS - 1756-994X (Electronic)
IS - 1756-994X (Linking)
VI - 13
@@ -88513,6 +90911,7 @@ AID - 10.1186/s12883-021-02306-5 [doi]
PST - epublish
SO - BMC Neurol. 2021 Jul 9;21(1):273. doi: 10.1186/s12883-021-02306-5.
+
PMID- 34238289
OWN - NLM
STAT- MEDLINE
@@ -90689,7 +93088,6 @@ AID - 10.3390/ijms22083884 [doi]
PST - epublish
SO - Int J Mol Sci. 2021 Apr 9;22(8):3884. doi: 10.3390/ijms22083884.
-
PMID- 33915921
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -95074,7 +97472,7 @@ PMID- 33559681
OWN - NLM
STAT- MEDLINE
DCOM- 20210419
-LR - 20250530
+LR - 20260518
IS - 1460-2156 (Electronic)
IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
@@ -98228,7 +100626,7 @@ AD - Department of Microbiology, Animal Health Research Institute, Marsa Matruh
LA - eng
PT - Journal Article
DEP - 20201028
-PL - India
+PL - New Zealand
TA - Vet World
JT - Veterinary world
JID - 101504872
@@ -101444,7 +103842,7 @@ SO - NPJ Vaccines. 2020 Sep 11;5:85. doi: 10.1038/s41541-020-00231-1. eCollecti
PMID- 32954321
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20250530
+LR - 20260518
IS - 2632-1297 (Electronic)
IS - 2632-1297 (Linking)
VI - 2
@@ -113122,7 +115520,7 @@ PMID- 31783119
OWN - NLM
STAT- MEDLINE
DCOM- 20210115
-LR - 20260501
+LR - 20260514
IS - 1095-953X (Electronic)
IS - 0969-9961 (Print)
IS - 0969-9961 (Linking)
@@ -113923,7 +116321,7 @@ PMID- 31659027
OWN - NLM
STAT- MEDLINE
DCOM- 20200401
-LR - 20240922
+LR - 20260518
IS - 1091-6490 (Electronic)
IS - 0027-8424 (Print)
IS - 0027-8424 (Linking)
@@ -117368,6 +119766,7 @@ PST - ppublish
SO - Nat Genet. 2019 Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019
Jul 22.
+
PMID- 31332380
OWN - NLM
STAT- MEDLINE
@@ -119665,7 +122064,7 @@ PMID- 31133519
OWN - NLM
STAT- MEDLINE
DCOM- 20200609
-LR - 20201106
+LR - 20260518
IS - 1474-4457 (Electronic)
IS - 1473-3099 (Linking)
VI - 19
@@ -120069,7 +122468,6 @@ PST - ppublish
SO - Arch Virol. 2019 Aug;164(8):2061-2082. doi: 10.1007/s00705-019-04265-2. Epub 2019
May 27.
-
PMID- 31127772
OWN - NLM
STAT- MEDLINE
@@ -132716,7 +135114,7 @@ PMID- 29589097
OWN - NLM
STAT- MEDLINE
DCOM- 20190701
-LR - 20220408
+LR - 20260518
IS - 1432-0533 (Electronic)
IS - 0001-6322 (Print)
IS - 0001-6322 (Linking)
@@ -134453,7 +136851,7 @@ PMID- 29326013
OWN - NLM
STAT- MEDLINE
DCOM- 20190225
-LR - 20250530
+LR - 20260518
IS - 1474-4457 (Electronic)
IS - 1473-3099 (Print)
IS - 1473-3099 (Linking)
@@ -135781,7 +138179,7 @@ SO - Mol Diagn Ther. 2018 Feb;22(1):91-100. doi: 10.1007/s40291-017-0305-9.
PMID- 29170628
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20250530
+LR - 20260518
IS - 1662-5099 (Print)
IS - 1662-5099 (Electronic)
IS - 1662-5099 (Linking)
@@ -138266,7 +140664,7 @@ PMID- 28919586
OWN - NLM
STAT- MEDLINE
DCOM- 20180510
-LR - 20260127
+LR - 20260503
IS - 1735-367X (Electronic)
IS - 1735-1383 (Linking)
VI - 14
@@ -138275,6 +140673,7 @@ DP - 2017 Sep
TI - Combination of Myelin Basic Protein Gene Polymorphisms with HLA-DRB1*1501 in
Iranian Patients with Multiple Sclerosis.
PG - 231-239
+LID - 10.22034/iji.2017.39313 [doi]
AB - BACKGROUND: Multiple sclerosis (MS), as a multifactorial autoimmune disease with
complex genetic basis, causes demyelination in the central nervous system via
cytokine responses to myelin antigens. Myelin basic protein (MBP) is the main
@@ -138346,8 +140745,9 @@ PHST- 2017/09/19 06:00 [entrez]
PHST- 2017/09/19 06:00 [pubmed]
PHST- 2018/05/11 06:00 [medline]
AID - 06 [pii]
+AID - 10.22034/iji.2017.39313 [doi]
PST - ppublish
-SO - Iran J Immunol. 2017 Sep;14(3):231-239.
+SO - Iran J Immunol. 2017 Sep;14(3):231-239. doi: 10.22034/iji.2017.39313.
PMID- 28895261
OWN - NLM
@@ -141742,7 +144142,7 @@ PMID- 28642124
OWN - NLM
STAT- MEDLINE
DCOM- 20170904
-LR - 20250530
+LR - 20260518
IS - 1474-4465 (Electronic)
IS - 1474-4422 (Linking)
VI - 16
@@ -146371,6 +148771,7 @@ AID - 10.7589/2015-12-329 [doi]
PST - ppublish
SO - J Wildl Dis. 2017 Apr;53(2):339-343. doi: 10.7589/2015-12-329. Epub 2017 Jan 24.
+
PMID- 28093076
OWN - NLM
STAT- MEDLINE
@@ -146743,7 +149144,7 @@ PMID- 28069311
OWN - NLM
STAT- MEDLINE
DCOM- 20170928
-LR - 20260127
+LR - 20260518
IS - 1558-1497 (Electronic)
IS - 0197-4580 (Linking)
VI - 51
@@ -148803,7 +151204,6 @@ PST - ppublish
SO - Stem Cell Reports. 2016 Dec 13;7(6):1059-1071. doi: 10.1016/j.stemcr.2016.10.004.
Epub 2016 Nov 10.
-
PMID- 27818324
OWN - NLM
STAT- MEDLINE
@@ -152884,7 +155284,7 @@ PMID- 27303395
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20160615
-LR - 20201001
+LR - 20260518
IS - 1664-302X (Print)
IS - 1664-302X (Electronic)
IS - 1664-302X (Linking)
@@ -157081,7 +159481,7 @@ PMID- 26733254
OWN - NLM
STAT- MEDLINE
DCOM- 20161213
-LR - 20260127
+LR - 20260518
IS - 1558-1497 (Electronic)
IS - 0197-4580 (Print)
IS - 0197-4580 (Linking)
@@ -157816,7 +160216,7 @@ PMID- 26674655
OWN - NLM
STAT- MEDLINE
DCOM- 20160630
-LR - 20220330
+LR - 20260518
IS - 1460-2156 (Electronic)
IS - 0006-8950 (Print)
IS - 0006-8950 (Linking)
@@ -171405,6 +173805,7 @@ AID - 10.1167/iovs.14-14958 [doi]
PST - epublish
SO - Invest Ophthalmol Vis Sci. 2014 Aug 28;55(9):6101-7. doi: 10.1167/iovs.14-14958.
+
PMID- 25158292
OWN - NLM
STAT- MEDLINE
@@ -173563,7 +175964,6 @@ PST - epublish
SO - PLoS Genet. 2014 May 29;10(5):e1004367. doi: 10.1371/journal.pgen.1004367.
eCollection 2014.
-
PMID- 24861139
OWN - NLM
STAT- MEDLINE
@@ -180680,7 +183080,7 @@ PMID- 23894380
OWN - NLM
STAT- MEDLINE
DCOM- 20140224
-LR - 20260128
+LR - 20260518
IS - 1932-6203 (Electronic)
IS - 1932-6203 (Linking)
VI - 8
@@ -183777,7 +186177,7 @@ PMID- 23588422
OWN - NLM
STAT- MEDLINE
DCOM- 20130829
-LR - 20220331
+LR - 20260518
IS - 2168-6157 (Electronic)
IS - 2168-6149 (Print)
IS - 2168-6149 (Linking)
@@ -190254,7 +192654,7 @@ PMID- 22550220
OWN - NLM
STAT- MEDLINE
DCOM- 20120816
-LR - 20260128
+LR - 20260518
IS - 1468-330X (Electronic)
IS - 0022-3050 (Print)
IS - 0022-3050 (Linking)
@@ -191306,8 +193706,9 @@ PMID- 22406228
OWN - NLM
STAT- MEDLINE
DCOM- 20120511
-LR - 20250529
+LR - 20260518
IS - 1474-4465 (Electronic)
+IS - 1474-4422 (Print)
IS - 1474-4422 (Linking)
VI - 11
IP - 4
@@ -191760,10 +194161,12 @@ FIR - Logroscino, Giancarlo
IR - Logroscino G
EDAT- 2012/03/13 06:00
MHDA- 2012/05/12 06:00
+PMCR- 2012/04/01
CRDT- 2012/03/13 06:00
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PHST- 2012/03/13 06:00 [pubmed]
PHST- 2012/05/12 06:00 [medline]
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IP - 45
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MHDA- 2012/01/05 06:00
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PHST- 2011/11/11 06:00 [entrez]
PHST- 2011/11/11 06:00 [pubmed]
PHST- 2012/01/05 06:00 [medline]
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PHST- 2009/07/10 09:00 [pubmed]
PHST- 2009/08/04 09:00 [medline]
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