About: Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

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About: Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers Goto Sponge NotDistinct Permalink

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scientific article published on 16 July 2014

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в липні 2014 (uk) article scientifique publié en 2014 (fr) scientific article published on 16 July 2014 (en) artículu científicu espublizáu en xunetu de 2014 (ast)
publication date	wds:Q87405047-A6243B67-610B-4CB5-A6A3-73E7C5400AC9
publication date	2014-07-16 00:00:00Z (xsd:dateTime)
author name string	wds:Q87405047-0F7D4F79-7295-405D-9AB1-A8B53AB68DD1 wds:Q87405047-33DEBED1-5FC0-444F-8DC5-F33AF3FE6F6D wds:Q87405047-428D8CB6-D42B-43E9-A3B7-F2877E0417F4 wds:Q87405047-532B4748-7C71-451A-9766-55254973C5A0 wds:Q87405047-6C1F3946-38B5-4F00-AE22-55EB8FA83971 wds:Q87405047-82F7D51C-C2F7-4709-B2F7-077CFEA4D54F wds:Q87405047-83B814F5-9FB1-4E20-A88D-D70E941AC2A9 wds:Q87405047-B1BB6A93-3C33-4ABA-97AC-F10526ED0234 wds:Q87405047-B558DCCE-B290-46C3-ADAC-C7FD3EB3F754 wds:Q87405047-BAF33CEB-BA0B-4FF6-BEFF-F0203D8FF418 wds:Q87405047-C4D99033-9189-4ED8-B9AC-36DE361C0B3D wds:Q87405047-D5D3C35A-5848-466E-9F6F-1BC4D8D7252F wds:Q87405047-F057ADA8-4202-4987-9D8E-91131BE00C80 wds:Q87405047-F431C21D-C8A4-42D4-A07B-2A5D1EFBB517
author name string	Emmanuelle Salort-Campana Shahram Attarian Natacha Broucqsault Julia Morere Karine Nguyen Marie-Cécile Gaillard Nicolas Levy Camille Dion Rafaëlle Bernard Catherine Vovan Charlene Chaix Francesca Puppo Armand Tasmadjian Gwenaëlle Bouget
rdfs:label	Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers (en) Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers (nl)
skos:prefLabel	Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers (en) Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers (nl)
name	Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers (en) Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers (nl)
author	wds:Q87405047-8F96AC59-33D0-4EAE-9B0F-EE1C5B676A53 wds:Q87405047-B9604596-AB19-4EB9-A80B-D88D52DBC75D wds:Q87405047-CF74FF87-FBEC-495B-B346-E447EE93561B
author	Marc Bartoli Stéphane Roche Frederique Magdinier
title	wds:Q87405047-7ABD432F-9ED3-465C-95FF-9505772E0A41
title	Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers (en)
page(s)	wds:Q87405047-D92CBF3A-8883-472B-835A-1144640879D6
page(s)	733-742
instance of	wds:Q87405047-73023262-BD26-463C-8956-025F2FA4BD99
instance of	scholarly article
PubMed ID	wds:Q87405047-C25E8C51-29FC-4DAD-995C-62FD5F6EA5CF
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/25031281
PubMed ID	25031281
published in	wds:Q87405047-9AEF1A86-6415-4EA9-A6D1-BDEF8BA48646
published in	Neurology
issue	wds:Q87405047-E95ACCC3-D0B8-4325-8A88-0E34D999BAC5
volume	wds:Q87405047-51F0E13D-CA4A-4549-B902-1E2F9704E213
issue	8
volume	83
DOI	wds:Q87405047-C55F38DE-E600-4370-9F12-697A79F44C73
DOI	http://dx.doi.org/10.1212/WNL.0000000000000708
DOI	10.1212/WNL.0000000000000708
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q87405047
is cites work of	Emerging preclinical animal models for FSHD. Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells Expression of FSHD-related DUX4-FL alters proteostasis and induces TDP-43 aggregation Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing Facioscapulohumeral Dystrophy Genetic and epigenetic contributors to FSHD. Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD). SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD). Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2. Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development Targeting the Polyadenylation Signal of Pre-mRNA: A New Gene Silencing Approach for Facioscapulohumeral Dystrophy. A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite Long-read single-molecule maps of the functional methylome A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1 Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy. Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism Genotype-phenotype correlations in FSHD Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy Facioscapulohumeral Muscular Dystrophy. Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2 Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain PARP1 Differentially Interacts with Promoter region of DUX4 Gene in FSHD Myoblasts Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention Polycomb repressive complex 1 provides a molecular explanation for repeat copy number dependency in FSHD muscular dystrophy.

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