Cardiac troponin T is essential in sarcomere assembly and cardiac contractility

Mutations of the gene (TNNT2) encoding the thin-filament contractile protein cardiac troponin T are responsible for 15% of all cases of familial hypertrophic cardiomyopathy, the leading cause of sudden death in young athletes. Mutant proteins are thought to act through a dominant-negative mode that...

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Veröffentlicht in:	Nature genetics 2002-05, Vol.31 (1), p.106-110
Hauptverfasser:	Stainier, Didier Y. R, Sehnert, Amy J, Huq, Anja, Weinstein, Brant M, Walker, Charline, Fishman, Mark
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Athletes Base Sequence Biological and medical sciences Calcium Cardiomyocytes Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial - genetics Classical genetics, quantitative genetics, hybrids Cloning, Molecular Danio rerio DNA - genetics Edema Embryos Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Genotype & phenotype Humans Mice Microscopy Molecular Sequence Data Mutants Mutation Myocardial Contraction - genetics Myocardial Contraction - physiology Myocardium - metabolism Myocardium - pathology Phenotype Protein expression Proteins Sarcomeres - pathology Troponin T - deficiency Troponin T - genetics Troponin T - physiology Vertebrata Zebrafish - embryology Zebrafish - genetics Zebrafish - physiology
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