Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores (Q35904556)

11 August 2017

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

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11 August 2017

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Steven E Boyden

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11 August 2017

Lane J Mahoney

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11 August 2017

Genri Kawahara

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Jennifer A Myers

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Satomi Mitsuhashi

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Elicia A Estrella

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Anna R Duncan

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Friederike Dey

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Elizabeth T DeChene

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Jessica M Blasko-Goehringer

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Carsten G Bönnemann

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Basil T Darras

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Jerry R Mendell

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Hart G W Lidov

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Ichizo Nishino

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Alan H Beggs

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Louis M Kunkel

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Peter B Kang

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language of work or name

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28 February 2012

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115-124

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https://scigraph.springernature.com/pub.10.1007/s10048-012-0315-z

11 August 2017

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

An absolute requirement for Pax7-positive satellite cells in acute injury-induced skeletal muscle regeneration

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

A map of human genome variation from population-scale sequencing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Disruption of the murine Ap2β1 gene causes nonsyndromic cleft palate

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Zebrafish models for human FKRP muscular dystrophies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Glial precursors clear sensory neuron corpses during development via Jedi-1, an engulfment receptor

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Exome sequencing identifies the cause of a mendelian disorder

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Pathological defects in congenital myopathies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Mutations in TPM3 are a common cause of congenital fiber type disproportion

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Megf10 regulates the progression of the satellite cell myogenic program

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

MEGF10 is a mammalian ortholog of CED-1 that interacts with clathrin assembly protein complex 2 medium chain and induces large vacuole formation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

The mammalian Ced-1 ortholog MEGF10/KIAA1780 displays a novel adhesion pattern

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Stem and progenitor cells in skeletal muscle development, maintenance, and therapy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Cooperation between engulfment receptors: the case of ABCA1 and MEGF10

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Evolution of distinct EGF domains with specific functions

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Pax7 directs postnatal renewal and propagation of myogenic satellite cells but not their specification.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Muscular dystrophies: genes to pathogenesis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

The dystrophin associated protein complex in zebrafish

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

EMI domains are widespread and reveal the probable orthologs of the Caenorhabditis elegans CED-1 protein

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Human non-synonymous SNPs: server and survey

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Pax7 is required for the specification of myogenic satellite cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Dysgenesis of cephalic neural crest derivatives in Pax7-/- mutant mice

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

11 July 2018

Submucous cleft palate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

11 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0315-Z

Actin mutations are one cause of congenital fibre type disproportion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0315-Z

Delta-sarcoglycan is required for early zebrafish muscle organization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0315-Z

Zebrafish as a model for caveolin-associated muscle disease; caveolin-3 is required for myofibril organization and muscle cell patterning.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0315-Z

A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0315-Z

Muscle satellite cell-specific genes identified by genetic profiling of MyoD-deficient myogenic cell.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0315-Z

Satellite cells, connective tissue fibroblasts and their interactions are crucial for muscle regeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0315-Z

Genes controlling and mediating locomotion behavior of the zebrafish embryo and larva.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

Pax7-expressing satellite cells are indispensable for adult skeletal muscle regeneration

24 September 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0315-Z

Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332380

The 2011 version of the gene table of neuromuscular disorders

6 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22371254

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10048-012-0315-Z

1 reference

11 August 2017

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11 August 2017

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