Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier. - Wikidata - awgldk - TriplyDB

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.

http://www.wikidata.org/entity/Q34810486

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There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.RNA metabolism in neurodegenerative disease.Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence.Occupational attainment influences survival in autopsy-confirmed frontotemporal degeneration.Bromodomain inhibitors regulate the C9ORF72 locus in ALS Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing Emerging role of RNA•DNA hybrids in C9orf72-linked neurodegeneration.C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD Quadruplex formation by both G-rich and C-rich DNA strands of the C9orf72 (GGGGCC)8•(GGCCCC)8 repeat: effect of CpG methylation.Solution structure of a DNA quadruplex containing ALS and FTD related GGGGCC repeat stabilized by 8-bromodeoxyguanosine substitution Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells.Opening up the DNA methylome of dementia Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions.Genetics of Frontotemporal Lobar Degeneration: From the Bench to the Clinic.ALS and FTD: an epigenetic perspective.R Loops and Links to Human Disease.C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.Neuron loss and degeneration in the progression of TDP-43 in frontotemporal lobar degeneration.The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.DNA methylation age-acceleration is associated with disease duration and age at onset in C9orf72 patients Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS.C9orf72 is required for proper macrophage and microglial function in mice.Epigenetics and DNA methylomic profiling in Alzheimer's disease and other neurodegenerative diseases.The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.Epigenetic Mechanisms of Gene Regulation in Amyotrophic Lateral Sclerosis.Familial Amyotrophic Lateral Sclerosis.

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Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.

http://www.wikidata.org/entity/Q34810486

description

2014 nî lūn-bûn

@nan

2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.

@ast

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.

@en

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.

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type

label

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.

@ast

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.

@en

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.

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prefLabel

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.

@ast

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.

@en

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.

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Acta Neuropathologica

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Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.

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P2093

David J Irwin

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Donald Neal

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Edward B Lee

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Elaine Y Liu

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Elisabeth M Wood

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EunRan Suh

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Kathryn Wu

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Lauren Elman

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Leo McCluskey

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Matthew B Harms

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P2860

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

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

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

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

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

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

Classification of primary progressive aphasia and its variants

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

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

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

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1

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129

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Corey T McMillan

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2014-11-12T00:00:00Z

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268231826

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