A unifying genetic model for facioscapulohumeral muscular dystrophy (Q28291033)

Daniel G Miller

11

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Sabrina Sacconi

Sabrina Sacconi

4

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Silvère M van der Maarel

Silvère M van der Maarel

15

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Rune Frants

14

Rune R Frants

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George W. Padberg

10

George W Padberg

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Rabi Tawil

13

Rabi Tawil

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author name string

Richard J L F Lemmers

1

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Patrick J van der Vliet

2

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Rinse Klooster

3

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Johannes G Dauwerse

6

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Lauren Snider

7

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Kirsten R Straasheijm

8

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Gert Jan van Ommen

9

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Stephen J Tapscott

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

12

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language of work or name

English

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publication date

24 September 2010

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published in

Science

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volume

329

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page(s)

1650-3

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issue

5999

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4677822

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4677822

Patterns of variant polyadenylation signal usage in human genes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4677822

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4677822

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

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4677822

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

6 April 2017

1 reference

Crossref

https://api.crossref.org/works/10.1126/SCIENCE.1189044

Phosphorylation of serine 2 within the RNA polymerase II C-terminal domain couples transcription and 3' end processing

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4677822

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4677822

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

24 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4677822

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4677822

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4677822

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4677822

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4677822

Epigenetic mechanisms of facioscapulohumeral muscular dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4677822

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4677822

Inappropriate Gene Activation in FSHD

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4677822

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4677822

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4677822

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4677822

DNAFSMiner: a web-based software toolbox to recognize two types of functional sites in DNA sequences.

2 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1126%2FSCIENCE.1189044

Facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20724583

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1126/SCIENCE.1189044

1 reference

release_n4y3euyzjjhrxbgzyg2tzohc3e

1014851

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/n4y3euyzjjhrxbgzyg2tzohc3e

mapped directly with Wikidata item

24 November 2022

based on heuristic

1014851

1 reference

1 reference

1 reference