Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy - Wikidata - awgldk - TriplyDB

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy

http://www.wikidata.org/entity/Q28297039

about

A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein Molecular organization of sarcoglycan complex in mouse myotubes in culture Lamin A/C truncation in dilated cardiomyopathy with conduction disease The potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophy Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin Differential association of syntrophin pairs with the dystrophin complex Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD.Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.Making sense of the limb-girdle muscular dystrophies.Myoferlin is required for insulin-like growth factor response and muscle growth.Sarcoglycans in muscular dystrophy.Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.Secondary coronary artery vasospasm promotes cardiomyopathy progression.Fibrosis and inflammation are greater in muscles of beta-sarcoglycan-null mouse than mdx mouse.Muscle degeneration without mechanical injury in sarcoglycan deficiency Limb-girdle muscular dystrophies--from genetics to molecular pathology.Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects A novel isoform of delta-sarcoglycan is localized at the sarcoplasmic reticulum of mouse skeletal muscle.Reengineering a transmembrane protein to treat muscular dystrophy using exon skipping Gamma-sarcoglycan deficiency leads to muscle membrane defects and apoptosis independent of dystrophin.The association of caveolae, actin, and the dystrophin-glycoprotein complex: a role in smooth muscle phenotype and function?Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology.Long-term survival of transplanted stem cells in immunocompetent mice with muscular dystrophy.Altered calcium pump and secondary deficiency of gamma-sarcoglycan and microspan in sarcoplasmic reticulum membranes isolated from delta-sarcoglycan knockout mice.Neuromuscular disorders: genes, genetic counseling and therapeutic trials Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice.Designing heart performance by gene transfer.Transplanted hematopoietic stem cells demonstrate impaired sarcoglycan expression after engraftment into cardiac and skeletal muscle.Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies.Finding the sweet spot: assembly and glycosylation of the dystrophin-associated glycoprotein complex.γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort.Overview of the Muscle Cytoskeleton.Smooth muscle cell-extrinsic vascular spasm arises from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy Conformational equilibria of bulged sites in duplex DNA studied by EPR spectroscopy Stretch-activated cation channels in skeletal muscle myotubes from sarcoglycan-deficient hamsters.Impaired muscle growth and response to insulin-like growth factor 1 in dysferlin-mediated muscular dystrophy.

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P2860

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy

http://www.wikidata.org/entity/Q28297039

description

1996 nî lūn-bûn

@nan

1996 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

1996 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

1996年の論文

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1996年論文

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1996年論文

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1996年論文

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1996年論文

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1996年論文

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1996年论文

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name

Mutations that disrupt the car ...... lycan cause muscular dystrophy

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Mutations that disrupt the car ...... lycan cause muscular dystrophy

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Mutations that disrupt the car ...... lycan cause muscular dystrophy

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type

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Mutations that disrupt the car ...... lycan cause muscular dystrophy

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Mutations that disrupt the car ...... lycan cause muscular dystrophy

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Mutations that disrupt the car ...... lycan cause muscular dystrophy

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prefLabel

Mutations that disrupt the car ...... lycan cause muscular dystrophy

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Mutations that disrupt the car ...... lycan cause muscular dystrophy

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Mutations that disrupt the car ...... lycan cause muscular dystrophy

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Human Molecular Genetics

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Mutations that disrupt the car ...... lycan cause muscular dystrophy

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P2093

C Angelini

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C G Bönnemann

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D Duggan

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E M McNally

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10.1093/HMG/5.11.1841

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11

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