Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy - Wikidata - wikimedia - TriplyDB

Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy

Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy

http://www.wikidata.org/entity/Q28191242

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Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy Caveolinopathies: from the biology of caveolin-3 to human diseases Channelopathies from mutations in the cardiac sodium channel protein complex PTRF/Cavin-1 Deficiency Causes Cardiac Dysfunction Accompanied by Cardiomyocyte Hypertrophy and Cardiac Fibrosis Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans Muscular dystrophy begins early in embryonic development deriving from stem cell loss and disrupted skeletal muscle formation The coiled-coil domain of MURC/cavin-4 is involved in membrane trafficking of caveolin-3 in cardiomyocytes.Elevated serum aminotransferases secondary to rippling muscle disease.Caveolae, ion channels and cardiac arrhythmias.Identification and functional analysis of a new putative caveolin-3 variant found in a patient with sudden unexplained death RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.Palmitate diet-induced loss of cardiac caveolin-3: a novel mechanism for lipid-induced contractile dysfunction.Left ventricular dysfunction in murine models of heart failure and in failing human heart is associated with a selective decrease in the expression of caveolin-3.Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases.Caveolins in cardioprotection - translatability and mechanisms Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.Different subcellular populations of L-type Ca2+ channels exhibit unique regulation and functional roles in cardiomyocytes Genetics of inherited cardiomyopathies.Freeze-fracture replica immunolabelling reveals caveolin-1 in the human cardiomyocyte plasma membrane.Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes Cavin4b/Murcb Is Required for Skeletal Muscle Development and Function in Zebrafish.Genetic basis of hypertrophic cardiomyopathy.Cardioprotective Role of Caveolae in Ischemia-Reperfusion Injury.Caveolin and caveolae in age associated cardiovascular disease Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.Clinical and translational implications of the caveolin gene family: lessons from mouse models and human genetic disorders.The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond.From embryonic development to human diseases: The functional role of caveolae/caveolin.Genetic testing for inherited cardiac disease.Sodium channel haploinsufficiency and structural change in ventricular arrhythmogenesis.Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.Caveolin-3 plays a critical role in autophagy after ischemia-reperfusion.Caveolin-1/-3: therapeutic targets for myocardial ischemia/reperfusion injury.Murine Electrophysiological Models of Cardiac Arrhythmogenesis.Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies.Muscular dystrophy in PTFR/cavin-1 null mice.

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P2860

Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy

http://www.wikidata.org/entity/Q28191242

description

2004 nî lūn-bûn

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2004 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2004 թվականի հունվարին հրատարակված գիտական հոդված

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2004年の論文

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2004年論文

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Identification and functional ...... al hypertrophic cardiomyopathy

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Identification and functional ...... al hypertrophic cardiomyopathy

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Identification and functional ...... al hypertrophic cardiomyopathy

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Identification and functional ...... al hypertrophic cardiomyopathy

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Identification and functional ...... al hypertrophic cardiomyopathy

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Identification and functional ...... al hypertrophic cardiomyopathy

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Identification and functional ...... al hypertrophic cardiomyopathy

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Identification and functional ...... al hypertrophic cardiomyopathy

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Identification and functional ...... al hypertrophic cardiomyopathy

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J.BBRC.2003.11.101

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Biochemical and Biophysical Research Communications

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Identification and functional ...... al hypertrophic cardiomyopathy

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Akinori Kimura

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Hiroki Shibata

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Hisae Hori

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Kazuo Ueda

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Megumi Takahashi

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Michio Yasunami

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Naoki Oka

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Shigeru Hohda

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Takeharu Hayashi

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Takuro Arimura

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178-84

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scholarly article

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10.1016/J.BBRC.2003.11.101

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