The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease (Q28508101)

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Language	Label	Description	Also known as
English	The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease	scientific journal article

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scholarly article

1 reference

PubMed publication ID

24 January 2017

The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease (English)

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PubMed publication ID

24 January 2017

Thyroid hormone receptor interactor 4

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GOA release 2020-03-11

Valérie Allamand

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author name string

Laurianne Davignon

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24 January 2017

Claire Chauveau

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24 January 2017

Cédric Julien

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24 January 2017

Corinne Dill

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24 January 2017

Isabelle Duband-Goulet

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24 January 2017

Eva Cabet

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24 January 2017

Brigitte Buendia

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24 January 2017

Alain Lilienbaum

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24 January 2017

John Rendu

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24 January 2017

Marie Christine Minot

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24 January 2017

Agnès Guichet

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24 January 2017

Nathalie Vadrot

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24 January 2017

Julien Fauré

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24 January 2017

Jean Paul Leroy

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24 January 2017

Pascale Marcorelles

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24 January 2017

Odile Dubourg

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24 January 2017

publication date

15 April 2016

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24 January 2017

Human Molecular Genetics

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24 January 2017

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24 January 2017

8

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24 January 2017

1559–1573

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24 January 2017

Diagnostic approach to the congenital muscular dystrophies

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Congenital myopathies and muscular dystrophies

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Approach to the diagnosis of congenital myopathies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Glycobiology of α-dystroglycan and muscular dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

De novo LMNA mutations cause a new form of congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Nemaline myopathies.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

RYR1-related myopathies: a wide spectrum of phenotypes throughout life

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractility

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Triadopathies: an emerging class of skeletal muscle diseases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Minicore myopathy in children: a clinical and histopathological study of 19 cases.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

1 reference

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21 January 2018

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Congenital muscular dystrophies: a brief review

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Cap disease due to mutation of the beta-tropomyosin gene (TPM2)

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

New role for serum response factor in postnatal skeletal muscle growth and regeneration via the interleukin 4 and insulin-like growth factor 1 pathways

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Novel transcription coactivator complex containing activating signal cointegrator 1

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Retinoid-dependent antagonism of serum response factor transactivation mediated by transcriptional coactivator proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Coordinate regulation of transcription and splicing by steroid receptor coregulators

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Two classes of proteins dependent on either the presence or absence of thyroid hormone for interaction with the thyroid hormone receptor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Activating signal cointegrator 1, a novel transcription coactivator of nuclear receptors, and its cytosolic localization under conditions of serum deprivation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

The ASCH superfamily: novel domains with a fold related to the PUA domain and a potential role in RNA metabolism

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Gastrin activates paracrine networks leading to induction of PAI-2 via MAZ and ASC-1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Diverse Caenorhabditis elegans genes that are upregulated in dauer larvae also show elevated transcript levels in long-lived, aged, or starved adults

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Follow-up of loci from the International Genomics of Alzheimer's Disease Project identifies TRIP4 as a novel susceptibility gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Identification of the STAC3 gene as a skeletal muscle-specifically expressed gene and a novel regulator of satellite cell differentiation in cattle

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Congenital myopathy is caused by mutation of HACD1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Molecular signature of quiescent satellite cells in adult skeletal muscle.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

An HMGA2-IGF2BP2 axis regulates myoblast proliferation and myogenesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Insulin-like growth factor (IGF-I) induces myotube hypertrophy associated with an increase in anaerobic glycolysis in a clonal skeletal-muscle cell model

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Growth and differentiation of C2 myogenic cells are dependent on serum response factor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Srf-Dependent Paracrine Signals Produced by Myofibers Control Satellite Cell-Mediated Skeletal Muscle Hypertrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW033

21 January 2018

Identifiers

10.1093/HMG/DDW033

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PubMed publication ID

1 reference

PubMed publication ID

24 January 2017

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