DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle (Q34211798)

31 July 2017

title

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle (English)

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31 July 2017

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Silvère M van der Maarel

object named as

Silvère M Van Der Maarel

series ordinal

5

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Zizhen Yao

series ordinal

1

object named as

Zizhen Yao

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31 July 2017

6

Rabi Tawil

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31 July 2017

7

Stephen J Tapscott

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31 July 2017

Richard J L F Lemmers

series ordinal

4

object named as

Richard J L F Lemmers

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31 July 2017

3

Judit Balog

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31 July 2017

2

Lauren Snider

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31 July 2017

publication date

26 May 2014

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31 July 2017

published in

Human Molecular Genetics

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31 July 2017

volume

23

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31 July 2017

issue

20

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31 July 2017

page(s)

5342-5352

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DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

The magnetic resonance imaging spectrum of facioscapulohumeral muscular dystrophy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

A unifying genetic model for facioscapulohumeral muscular dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

Human beta-defensin 3 has immunosuppressive activity in vitro and in vivo

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168822

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDU251

Skeletal muscle gene expression profiles in 20-29 year old and 65-71 year old women

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDU251

Facioscapulohumeral dystrophy

21 January 2018

1 reference

12 December 2020

High-abundance mRNAs in human muscle: comparison between young and old

1 reference

12 December 2020

Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy

1 reference

12 December 2020

Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle

1 reference

12 December 2020

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Longitudinal features of STIR bright signal in FSHD

1 reference

12 December 2020

CD8(+) T cells in facioscapulohumeral muscular dystrophy patients with inflammatory features at muscle MRI

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDU251

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31 July 2017

1 reference

31 July 2017

1 reference