Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier (Q34810486)

4 August 2017

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier (English)

1 reference

4 August 2017

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1

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8 June 2020

Corey T McMillan

7

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8 June 2020

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Nigel J Cairns

1 reference

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8 June 2020

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Leo McCluskey

1 reference

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8 June 2020

author name string

Elaine Y Liu

2

1 reference

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8 June 2020

Kathryn Wu

3

1 reference

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8 June 2020

Donald Neal

4

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8 June 2020

EunRan Suh

5

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8 June 2020

David J Irwin

6

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8 June 2020

Matthew B Harms

8

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8 June 2020

Elisabeth M Wood

10

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8 June 2020

Sharon X Xie

11

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8 June 2020

Lauren Elman

12

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8 June 2020

Vivianna M Van Deerlin

15

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8 June 2020

Edward B Lee

16

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8 June 2020

Murray Grossman

14

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8 June 2020

publication date

12 November 2014

1 reference

4 August 2017

Acta Neuropathologica

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25388784%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

volume

129

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8 June 2020

page(s)

39-52

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8 June 2020

issue

1

1 reference

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describes a project that uses

8 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4282973/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1007/s00401-014-1365-0

0 references

cites work

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

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C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

8 July 2018

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Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

8 July 2018

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C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.

8 July 2018

1 reference

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Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.

8 July 2018

1 reference

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C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

8 July 2018

1 reference

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Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome

8 July 2018

1 reference

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Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

8 July 2018

1 reference

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C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

8 July 2018

1 reference

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Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients

8 July 2018

1 reference

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TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

8 July 2018

1 reference

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TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

8 July 2018

1 reference

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Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases

8 July 2018

1 reference

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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

8 July 2018

1 reference

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Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

8 July 2018

1 reference

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Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

8 July 2018

1 reference

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Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

8 July 2018

1 reference

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Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion

8 July 2018

1 reference

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RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

8 July 2018

1 reference

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Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

8 July 2018

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A platform for discovery: The University of Pennsylvania Integrated Neurodegenerative Disease Biobank

8 July 2018

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Epigenetic modifications in trinucleotide repeat diseases.

8 July 2018

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Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.

8 July 2018

1 reference

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Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

8 July 2018

1 reference

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Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration

8 July 2018

1 reference

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C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients

8 July 2018

1 reference

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Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

8 July 2018

1 reference

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Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

8 July 2018

1 reference

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

8 July 2018

1 reference

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The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

8 July 2018

1 reference

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The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

8 July 2018

1 reference

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Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

8 July 2018

1 reference

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Transcription elongation and tissue-specific somatic CAG instability

8 July 2018

1 reference

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Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Building an integrated neurodegenerative disease database at an academic health center

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Nucleosomes protect DNA from DNA methylation in vivo and in vitro.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Classification of primary progressive aphasia and its variants

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Instability and chromatin structure of expanded trinucleotide repeats

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Random-effects models for longitudinal data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.

8 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1365-0

Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1365-0

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1365-0

FXN methylation predicts expression and clinical outcome in Friedreich ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1365-0

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1365-0

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1365-0

Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1365-0

Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4282973

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development

26 October 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1365-0

Genomic surveys by methylation-sensitive SNP analysis identify sequence-dependent allele-specific DNA methylation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25388784

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular-clinical correlations in males with an expanded FMR1 mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25388784

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00401-014-1365-0

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25388784%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25388784%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25388784%20AND%20SRC:MED&resulttype=core&format=json