Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. - Wikidata - wikimedia - TriplyDB

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

http://www.wikidata.org/entity/Q35449040

about

Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy.Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy.Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.Natural history of LGMD2A for delineating outcome measures in clinical trials Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation.Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients Epidemiology of muscular dystrophies in the Mediterranean area.Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.Calpain research for drug discovery: challenges and potential.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group.Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.Transcriptional and translational effects of intronic CAPN3 gene mutations.How to tackle the diagnosis of limb-girdle muscular dystrophy 2A CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B).cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway.Limb Girdle Muscular Dystrophies

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P2860

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

http://www.wikidata.org/entity/Q35449040

description

2005 nî lūn-bûn

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2005 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2005 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

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Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

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Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

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Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

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Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

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Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

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Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

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P2860

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Myotilin is mutated in limb girdle muscular dystrophy 1A

Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein

Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

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