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

25388784

4 August 2017

title

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

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4 August 2017

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1

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Corey T McMillan

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Nigel J Cairns

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Leo McCluskey

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author name string

Elaine Y Liu

2

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8 June 2020

Kathryn Wu

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Donald Neal

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EunRan Suh

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David J Irwin

6

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Matthew B Harms

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Elisabeth M Wood

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8 June 2020

Sharon X Xie

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8 June 2020

Lauren Elman

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8 June 2020

Vivianna M Van Deerlin

15

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Edward B Lee

16

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Murray Grossman

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publication date

12 November 2014

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25388784

4 August 2017

published in

Acta Neuropathologica

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volume

129

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issue

1

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8 June 2020

page(s)

39-52

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describes a project that uses

8 June 2020

ImageJ

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11 June 2022

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

based on heuristic

inferred from PubMed Central ID database lookup

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8 July 2018

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

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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

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

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

8 July 2018

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8 July 2018

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8 July 2018

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

8 July 2018

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8 July 2018

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

8 July 2018

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

8 July 2018

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

8 July 2018

1 reference

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

8 July 2018

1 reference

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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/S00401-014-1365-0

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/S00401-014-1365-0

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/S00401-014-1365-0

FXN methylation predicts expression and clinical outcome in Friedreich ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-014-1365-0

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/S00401-014-1365-0

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/S00401-014-1365-0

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/S00401-014-1365-0

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/S00401-014-1365-0

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 AND SRC:MED&resulttype=core&format=json

8 June 2020

1 reference

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

8 June 2020

25388784

1 reference

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