Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy (Q38538325)

3 September 2017

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title

Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy (English)

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facioscapulohumeral muscular dystrophy

3 September 2017

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author name string

Jane E Hewitt

series ordinal

1

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3 September 2017

publication date

25 June 2015

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3 September 2017

published in

Human Molecular Genetics

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3 September 2017

volume

24

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3 September 2017

issue

R1

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3 September 2017

page(s)

R17-23

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Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

3 September 2017

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FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

21 January 2018

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Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

21 January 2018

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Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy

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De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.

21 January 2018

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Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

21 January 2018

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

21 January 2018

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D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection

21 January 2018

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Clinical features of facioscapulohumeral muscular dystrophy 2.

21 January 2018

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

21 January 2018

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Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis

21 January 2018

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Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

21 January 2018

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Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.

21 January 2018

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Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy

21 January 2018

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Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

21 January 2018

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

21 January 2018

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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

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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 January 2018

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

21 January 2018

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A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene

21 January 2018

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The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy

21 January 2018

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Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

21 January 2018

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Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy

21 January 2018

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

21 January 2018

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

21 January 2018

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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/10.1093%2FHMG%2FDDV237

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

21 January 2018

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

21 January 2018

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A unifying genetic model for facioscapulohumeral muscular dystrophy

21 January 2018

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

21 January 2018

1 reference

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Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

21 January 2018

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A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

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

21 January 2018

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A focal domain of extreme demethylation within D4Z4 in FSHD2.

21 January 2018

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Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

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/10.1093%2FHMG%2FDDV237

Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

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/10.1093%2FHMG%2FDDV237

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

21 January 2018

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The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

Smchd1-dependent and -independent pathways determine developmental dynamics of CpG island methylation on the inactive X chromosome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

SMCHD1 accumulates at DNA damage sites and facilitates the repair of DNA double-strand breaks

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

Evolution of DUX gene macrosatellites in placental mammals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

The FSHD atrophic myotube phenotype is caused by DUX4 expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

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/10.1093%2FHMG%2FDDV237

Gene expression during normal and FSHD myogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

RNA-mediated epigenetic regulation of gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

Argonaute proteins couple chromatin silencing to alternative splicing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

Senescence is an endogenous trigger for microRNA-directed transcriptional gene silencing in human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV237

21 January 2018

Identifiers

DOI

10.1093/HMG/DDV237

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3 September 2017

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