Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation (Q26998289)

author name string

Silvère M. van der Maarel

series ordinal

1

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Daniel G. Miller

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2

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Galina N. Filippova

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4

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language of work or name

1 reference

October 2012

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Current Opinion in Neurology

published in

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volume

25

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issue

5

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page(s)

614-20

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A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy

cites work

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Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

21 March 2017

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DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2

21 March 2017

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

21 March 2017

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

21 March 2017

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

21 March 2017

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A unifying genetic model for facioscapulohumeral muscular dystrophy

21 March 2017

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Insulators: exploiting transcriptional and epigenetic mechanisms

21 March 2017

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

21 March 2017

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

7 April 2017

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Molecular mechanisms of long noncoding RNAs

7 April 2017

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The Piwi-piRNA pathway provides an adaptive defense in the transposon arms race

7 April 2017

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Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

7 April 2017

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Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production.

25 May 2017

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RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy.

28 September 2017

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Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

28 September 2017

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The magnetic resonance imaging spectrum of facioscapulohumeral muscular dystrophy.

28 September 2017

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

28 September 2017

1 reference

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The FSHD atrophic myotube phenotype is caused by DUX4 expression

28 September 2017

1 reference

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Human β-defensin 3 affects the activity of pro-inflammatory pathways associated with MyD88 and TRIF

28 September 2017

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Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions

28 September 2017

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Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

28 September 2017

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Expression, tandem repeat copy number variation and stability of four macrosatellite arrays in the human genome

28 September 2017

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Clinical features of facioscapulohumeral muscular dystrophy 2.

28 September 2017

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Chemokine expression and control of muscle cell migration during myogenesis

28 September 2017

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Regulation of cancer germline antigen gene expression: implications for cancer immunotherapy

28 September 2017

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

28 September 2017

1 reference

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Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation

28 September 2017

1 reference

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

28 September 2017

1 reference

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

28 September 2017

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A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy

28 September 2017

1 reference

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Epigenetic mechanisms of facioscapulohumeral muscular dystrophy

28 September 2017

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DXZ4 chromatin adopts an opposing conformation to that of the surrounding chromosome and acquires a novel inactive X-specific role involving CTCF and antisense transcripts

28 September 2017

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A structural-maintenance-of-chromosomes hinge domain-containing protein is required for RNA-directed DNA methylation.

28 September 2017

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

28 September 2017

1 reference

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Genetics and epigenetics of the multifunctional protein CTCF.

28 September 2017

1 reference

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Cutting edge: human beta defensin 3--a novel antagonist of the HIV-1 coreceptor CXCR4.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653067

Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653067

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653067

Inappropriate Gene Activation in FSHD

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653067

The RS447 human megasatellite tandem repetitive sequence encodes a novel deubiquitinating enzyme with a functional promoter

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653067

Physical Mapping Evidence for a Duplicated Region on Chromosome 10qter Showing High Homology with the Facioscapulohumeral Muscular Dystrophy Locus on Chromosome 4qter

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653067

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

28 September 2017

1 reference

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Antisense transcription controls cell fate in Saccharomyces cerevisiae

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653067

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

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653067

Induction of myogenic differentiation by SDF-1 via CXCR4 and CXCR7 receptors.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653067

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653067

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD

28 November 2018

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy in the Dutch population

1 reference

12 December 2020

STUDIES IN DISORDERS OF MUSCLE. II. CLINICAL MANIFESTATIONS AND INHERITANCE OF FACIOSCAPULOHUMERAL DYSTROPHY IN A LARGE FAMILY

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12 December 2020

Improved characterization of FSHD mutations

1 reference

12 December 2020

Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses

1 reference

12 December 2020

Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy

1 reference

12 December 2020

Early onset facioscapulohumeral muscular dystrophy

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12 December 2020

The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample.

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1097/WCO.0B013E328357F22D

Identifiers

DOI

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Fatcat ID

release_mtpbt2tkibdmbdmd42gbwtmh5u

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1 reference

PubMed publication ID

22892954

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