Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? (Q37943770)

25 August 2017

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? (English)

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facioscapulohumeral muscular dystrophy

25 August 2017

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Alexandra Belayew

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author name string

Mark Richards

1

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25 August 2017

Frédérique Coppée

2

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25 August 2017

Nick Thomas

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25 August 2017

Meena Upadhyaya

5

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25 August 2017

9 October 2011

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25 August 2017

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25 August 2017

131

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25 August 2017

325-340

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25 August 2017

3

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https://scigraph.springernature.com/pub.10.1007/s00439-011-1100-z

25 August 2017

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cites work

RNAPol-ChIP analysis of transcription from FSHD-linked tandem repeats and satellite DNA.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Methyl-CpG-binding proteins. Targeting specific gene repression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Perturbations of chromatin structure in human genetic disease: recent advances.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Heterogeneity in the muscle satellite cell population

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

The formation of skeletal muscle: from somite to limb

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Decreased proliferation kinetics of mouse myoblasts overexpressing FRG1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Clinical features of facioscapulohumeral muscular dystrophy 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3 kb dispersed repeated elements

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Inappropriate Gene Activation in FSHD

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

21 January 2018

Exploring the homeobox

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https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Muscular dystrophy candidate gene FRG1 is critical for muscle development

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

An epigenetic road map for histone lysine methylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

A unifying genetic model for facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Transcriptional activation of p53 by Pitx1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Chromosome 4q;10q translocations; comparison with different ethnic populations and FSHD patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

D4Z4 as a prototype of CTCF and lamins-dependent insulator in human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Histones and histone modifications

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulo-humeral dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Epigenetic regulation of skeletal myogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Caspase 3 expression correlates with skeletal muscle apoptosis in Duchenne and facioscapulo human muscular dystrophy. A potential target for pharmacological treatment?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Establishment of clonal myogenic cell lines from severely affected dystrophic muscles - CDK4 maintains the myogenic population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

FRG1P-mediated aggregation of proteins involved in pre-mRNA processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Ventilatory support in facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Cytogenetic and immuno-FISH analysis of the 4q subtelomeric region, which is associated with facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Human DNA sequences exhibiting gamete-specific hypomethylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1100-Z

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD

21 January 2018

1 reference

12 December 2020

On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy

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12 December 2020

Facioscapulohumeral muscular dystrophy

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12 December 2020

Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD)

1 reference

12 December 2020

44th ENMC International Workshop: Facioscapulohumeral Muscular Dystrophy: Molecular Studies 19-21 July 1996, Naarden, The Netherlands

1 reference

12 December 2020

Testing the effects of FSHD candidate gene expression in vertebrate muscle development

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12 December 2020

Improved characterization of FSHD mutations

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12 December 2020

Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families

1 reference

12 December 2020

Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis

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12 December 2020

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

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12 December 2020

RNA interference improves myopathic phenotypes in mice over-expressing FSHD region gene 1 (FRG1).

1 reference

12 December 2020

AAV6-mediated systemic shRNA delivery reverses disease in a mouse model of facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter

1 reference

12 December 2020

Cellular and molecular mechanisms of apoptosis in age-related muscle atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1

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12 December 2020

Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy

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12 December 2020

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

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12 December 2020

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy

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12 December 2020

Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy.

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12 December 2020

DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease

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12 December 2020

[Cascade of gene activation in Landouzy Dejerine muscular dystrophy]

1 reference

12 December 2020

10.1007/S00439-011-1100-Z

Identifiers

DOI

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25 August 2017

1 reference