Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. (Q35001068)

5 August 2017

title

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

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5 August 2017

Sabrina Sacconi

4

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Silvère M van der Maarel

object named as

Silvère M van der Maarel

series ordinal

8

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Rune Frants

series ordinal

6

object named as

Rune R Frants

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5 August 2017

3

Baziel G M van Engelen

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5 August 2017

7

Rabi Tawil

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5 August 2017

Richard J L F Lemmers

series ordinal

2

object named as

Richard J L F Lemmers

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5 August 2017

1

Jessica C de Greef

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5 August 2017

Shannon L Venance

5

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5 August 2017

publication date

1 October 2009

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5 August 2017

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5 August 2017

volume

30

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5 August 2017

issue

10

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5 August 2017

page(s)

1449-1459

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

5 August 2017

cites work

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7 January 2021

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

1 reference

7 January 2021

Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes.

1 reference

7 January 2021

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD

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7 January 2021

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

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7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Hybridization analysis of D4Z4 repeat arrays linked to FSHD.

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7 January 2021

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

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7 January 2021

Inappropriate Gene Activation in FSHD

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7 January 2021

A novel GC-rich human macrosatellite VNTR in Xq24 is differentially methylated on active and inactive X chromosomes

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7 January 2021

Human megasatellite DNA RS447: copy-number polymorphisms and interspecies conservation.

1 reference

7 January 2021

CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus

1 reference

7 January 2021

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

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7 January 2021

Striking bimodal methylation of the repeat unit of the tandem array encoding human U2 snRNA (the RNU2 locus).

1 reference

7 January 2021

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

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7 January 2021

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

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7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis

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7 January 2021

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

1 reference

7 January 2021

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

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7 January 2021

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

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7 January 2021

Concerted evolution of the tandemly repeated genes encoding human U2 snRNA (the RNU2 locus) involves rapid intrachromosomal homogenization and rare interchromosomal gene conversion

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7 January 2021

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

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7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

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7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Satellite DNAs between selfishness and functionality: structure, genomics and evolution of tandem repeats in centromeric (hetero)chromatin.

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7 January 2021

DNA methylation and human disease

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7 January 2021

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

1 reference

7 January 2021

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

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7 January 2021

Methylation of the FSHD syndrome-linked subtelomeric repeat in normal and FSHD cell cultures and tissues

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7 January 2021

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy

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7 January 2021

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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7 January 2021

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

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7 January 2021

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

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7 January 2021

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy

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7 January 2021

Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity

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7 January 2021

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

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7 January 2021

Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.

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7 January 2021

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Improved characterization of FSHD mutations

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7 January 2021

Identifiers

DOI

10.1002/HUMU.21091

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5 August 2017

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