A focal domain of extreme demethylation within D4Z4 in FSHD2. (Q41570179)

3 October 2017

A focal domain of extreme demethylation within D4Z4 in FSHD2. (English)

1 reference

3 October 2017

10

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3 October 2017

Silvère M van der Maarel

object named as

Silvère M van der Maarel

9

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author name string

Lynn M Hartweck

1

1 reference

3 October 2017

Lindsey J Anderson

2

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3 October 2017

Richard J Lemmers

3

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3 October 2017

Abhijit Dandapat

4

1 reference

3 October 2017

Erik A Toso

5

1 reference

3 October 2017

Joline C Dalton

6

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3 October 2017

Rabi Tawil

7

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3 October 2017

John W Day

8

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3 October 2017

language of work or name

English

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publication date

2 January 2013

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3 October 2017

8

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inferred from page(s)

published in

Neurology

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3 October 2017

80

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3 October 2017

4

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3 October 2017

392-399

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

3 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

The FSHD atrophic myotube phenotype is caused by DUX4 expression

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

Clinical features of facioscapulohumeral muscular dystrophy 2.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

A unifying genetic model for facioscapulohumeral muscular dystrophy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

Does CTCF mediate between nuclear organization and gene expression?

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

Genetics and epigenetics of the multifunctional protein CTCF.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

Quality of life and pain in patients with facioscapulohumeral muscular dystrophy.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589240

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy

19 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23284062

12 December 2020

inferred from PubMed ID database lookup

Facioscapulohumeral muscular dystrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23284062

12 December 2020

inferred from PubMed ID database lookup

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23284062

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1212/WNL.0B013E31827F075C

1 reference

3 October 2017

1 reference

3 October 2017

PubMed publication ID

23284062

1 reference