Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis (Q28271204)

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

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scholarly article

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

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inferred from title

facioscapulohumeral muscular dystrophy

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8

object named as

Jeffrey B Miller

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Takako I. Jones

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object named as

Takako Iida Jones

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12

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7

object named as

Oliver D King

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author name string

Jennifer C J Chen

2

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Fedik Rahimov

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Sachiko Homma

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Patricia Arashiro

5

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Mary Lou Beermann

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Louis M Kunkel

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Charles P Emerson

10

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Kathryn R Wagner

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language of work or name

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publication date

15 October 2012

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Human Molecular Genetics

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21

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20

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4419-30

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Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459465

20 March 2017

A unifying genetic model for facioscapulohumeral muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459465

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459465

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459465

20 March 2017

Quantitation of targets for PCR by use of limiting dilution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459465

20 March 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=3459465

24 May 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459465

29 September 2017

In junk we trust: repetitive DNA, epigenetics and facioscapulohumeral muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459465

29 September 2017

A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459465

29 September 2017

Gene expression during normal and FSHD myogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459465

29 September 2017

Establishment of clonal myogenic cell lines from severely affected dystrophic muscles - CDK4 maintains the myogenic population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459465

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459465

29 September 2017

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459465

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459465

29 September 2017

Clinical features of facioscapulohumeral muscular dystrophy 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459465

29 September 2017

Testing the effects of FSHD candidate gene expression in vertebrate muscle development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459465

29 September 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=3459465

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=3459465

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=3459465

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459465

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=3459465

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459465

29 September 2017

Immunodetection of human double homeobox 4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459465

2 June 2018

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=3459465

2 June 2018

Mixed-effects modeling with crossed random effects for subjects and items

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS284

21 January 2018

Bootstrap Methods: Another Look at the Jackknife

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS284

21 January 2018

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS284

21 January 2018

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD

1 reference

https://pubmed.ncbi.nlm.nih.gov/22798623

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles

1 reference

https://pubmed.ncbi.nlm.nih.gov/22798623

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Facioscapulohumeral muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22798623

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mosaicism in FSHD often goes undetected

1 reference

https://pubmed.ncbi.nlm.nih.gov/22798623

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Role of associated alleles and hypomethylation status in the clinical expression of facioscapulohumeral muscular dystrophy]

1 reference

https://pubmed.ncbi.nlm.nih.gov/22798623

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDS284

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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