Biphasic myopathic phenotype of mouse DUX, an ORF within conserved FSHD-related repeats. (Q33503626)

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7 February 2020

title

Biphasic myopathic phenotype of mouse DUX, an ORF within conserved FSHD-related repeats (English)

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7 February 2020

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3

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7 February 2020

Jonathan Slack

4

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7 February 2020

Michael Kyba

5

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7 February 2020

author name string

Darko Bosnakovski

1

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7 February 2020

Randy S Daughters

2

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7 February 2020

language of work or name

English

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publication date

16 September 2009

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7 February 2020

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volume

4

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issue

9

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7 February 2020

page(s)

e7003

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Creative Commons Attribution 4.0 International

7 February 2020

copyright license

start time

16 September 2009

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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

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

21 June 2018

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

21 June 2018

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A conserved role for Hox paralog group 4 in regulation of hematopoietic progenitors

21 June 2018

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DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation

21 June 2018

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Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects

21 June 2018

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

21 June 2018

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Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy

21 June 2018

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Skeletal muscle progenitor cells and the role of Pax genes

21 June 2018

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

21 June 2018

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A novel genetic hierarchy functions during hypaxial myogenesis: Pax3 directly activates Myf5 in muscle progenitor cells in the limb

21 June 2018

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

21 June 2018

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

21 June 2018

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

21 June 2018

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Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation

21 June 2018

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Inappropriate Gene Activation in FSHD

21 June 2018

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The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737622

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737622

Tissue-specific transcription pattern of the adenine nucleotide translocase isoforms in humans.

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737622

Redefining the genetic hierarchies controlling skeletal myogenesis: Pax-3 and Myf-5 act upstream of MyoD.

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737622

Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35

21 June 2018

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MyoD or Myf-5 is required for the formation of skeletal muscle

21 June 2018

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Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11.

21 June 2018

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Regional specification within the mesoderm of early embryos of Xenopus laevis.

21 June 2018

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Fates of the blastomeres of the 32-cell-stage Xenopus embryo

21 June 2018

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Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

21 June 2018

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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.

21 June 2018

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Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress.

21 January 2018

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Pbx homeodomain proteins direct Myod activity to promote fast-muscle differentiation

21 January 2018

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Delta-sarcoglycan is necessary for early heart and muscle development in zebrafish

21 January 2018

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An interaction between dorsal and ventral regions of the marginal zone in early amphibian embryos

21 January 2018

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12 December 2020

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

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12 December 2020

RAGE-NF-kappaB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy

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12 December 2020

Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies

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12 December 2020

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Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19756142 AND SRC:MED&resulttype=core&format=json

7 February 2020

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Fatcat

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24 November 2022

mapped directly with Wikidata item

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19756142 AND SRC:MED&resulttype=core&format=json

7 February 2020

PubMed publication ID

19756142

1 reference