Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations - Wikidata - wikimedia - TriplyDB

Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations

Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations

http://www.wikidata.org/entity/Q24681367

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Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy Prevention of cardiomyopathy in mouse models lacking the smooth muscle sarcoglycan-sarcospan complex Imaging phenotype vs genotype in nonhypertrophic heritable cardiomyopathies: dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy Ex vivo stretch reveals altered mechanical properties of isolated dystrophin-deficient hearts.Cardiac complications of childhood myopathies.Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex.Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E Genetics of inherited cardiomyopathy.Dysferlin-mediated membrane repair protects the heart from stress-induced left ventricular injury.Genetics of inherited cardiomyopathies.Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies.Dilated cardiomyopathy: a tale of cytoskeletal proteins and beyond.Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results Primary myopathies and the heart.Designing heart performance by gene transfer.Inhibition of Coxsackievirus-associated dystrophin cleavage prevents cardiomyopathy.The genetics of dilated cardiomyopathy.Mendelian forms of structural cardiovascular disease.Concise review: skeletal muscle stem cells and cardiac lineage: potential for heart repair.Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene.Genotype, phenotype: upstairs, downstairs in the family of cardiomyopathies Systemic AAV-Mediated β-Sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorates Histological and Functional Deficits in LGMD2E Mice.Smooth muscle cell-extrinsic vascular spasm arises from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy Human dental pulp pluripotent-like stem cells promote wound healing and muscle regeneration.β-Sarcoglycan gene transfer decreases fibrosis and restores force in LGMD2E mice.Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene.Hemodynamic alterations in the coronary circulation of cardiomyopathic hamsters: age and Ang II-dependent mechanisms.Cardiac involvement in Dutch patients with sarcoglycanopathy: a cross-sectional cohort and follow-up study.A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping.Cardiac involvement in the muscular dystrophies.Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle.The screening for X-linked Emery-Dreifuss muscular dystrophy amongst young patients with idiopathic heart conduction system disease treated by a pacemaker implant.

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P2860

Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations

http://www.wikidata.org/entity/Q24681367

description

2000 nî lūn-bûn

@nan

2000 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի փետրվարին հրատարակված գիտական հոդված

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2000年の論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年论文

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name

Disruption of heart sarcoglyca ...... by beta sarcoglycan mutations

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Disruption of heart sarcoglyca ...... by beta sarcoglycan mutations

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Disruption of heart sarcoglyca ...... by beta sarcoglycan mutations

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Disruption of heart sarcoglyca ...... by beta sarcoglycan mutations

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Disruption of heart sarcoglyca ...... by beta sarcoglycan mutations

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Disruption of heart sarcoglyca ...... by beta sarcoglycan mutations

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Disruption of heart sarcoglyca ...... by beta sarcoglycan mutations

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Disruption of heart sarcoglyca ...... by beta sarcoglycan mutations

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Disruption of heart sarcoglyca ...... by beta sarcoglycan mutations

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Journal of Medical Genetics

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Disruption of heart sarcoglyca ...... by beta sarcoglycan mutations

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P2860

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

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

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

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)

LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

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