A unifying genetic model for facioscapulohumeral muscular dystrophy (Q28291033)

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Language	Label	Description	Also known as
English	A unifying genetic model for facioscapulohumeral muscular dystrophy	scientific article

Statements

scholarly article

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A unifying genetic model for facioscapulohumeral muscular dystrophy (English)

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facioscapulohumeral muscular dystrophy

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object named as

Pilar Camaño

5

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Daniel G. Miller

object named as

Daniel G Miller

11

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Sabrina Sacconi

object named as

Sabrina Sacconi

4

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Silvère M van der Maarel

object named as

Silvère M van der Maarel

15

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14

object named as

Rune R Frants

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George W. Padberg

10

object named as

George W Padberg

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13

object named as

Rabi Tawil

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Patrick J van der Vliet

2

object named as

Patrick J van der Vliet

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Stephen J Tapscott

12

object named as

Stephen J Tapscott

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Richard J L F Lemmers

1

object named as

Richard J L F Lemmers

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7

object named as

Lauren Snider

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Kirsten R Straasheijm

8

object named as

Kirsten R Straasheijm

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3

object named as

Rinse Klooster

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author name string

Johannes G Dauwerse

6

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Gert Jan van Ommen

9

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language of work or name

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publication date

24 September 2010

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329

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5999

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1650-3

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

1 reference

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

20 March 2017

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

1 reference

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

20 March 2017

Patterns of variant polyadenylation signal usage in human genes

1 reference

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

20 March 2017

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

1 reference

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

6 April 2017

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

1 reference

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

6 April 2017

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

1 reference

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

22 April 2017

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

1 reference

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

7 April 2017

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

1 reference

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

24 May 2017

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

1 reference

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

29 September 2017

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

1 reference

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

29 September 2017

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

1 reference

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

29 September 2017

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

1 reference

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

29 September 2017

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

1 reference

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

29 September 2017

Epigenetic mechanisms of facioscapulohumeral muscular dystrophy

1 reference

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

29 September 2017

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

1 reference

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

29 September 2017

Inappropriate Gene Activation in FSHD

1 reference

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

29 September 2017

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

1 reference

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

29 September 2017

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy

1 reference

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

29 September 2017

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

1 reference

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

2 June 2018

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

1 reference

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

21 January 2018

Facioscapulohumeral muscular dystrophy

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1126/SCIENCE.1189044

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

release_n4y3euyzjjhrxbgzyg2tzohc3e

1 reference

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

24 November 2022

based on heuristic

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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