A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation

Journal of Biological Chemistry

Volumn 287, Issue 38, 2012, Pages 31845-31855

  Parvatiyar, Michelle S ^a,e   Landstrom, Andrew P ^b   Figueiredo Freitas, Cicero ^a   Potter, James D ^a   Ackerman, Michael J ^b,c   Pinto, Jose Renato ^a,d  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c MAYO CLINIC   (United States)

^d FLORIDA STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARDIAC DEATH; CARDIAC TROPONIN C; CONTRACTILE FORCE; FLUORESCENCE STUDIES; FUNCTIONAL CHARACTERIZATION; GLOBAL CHANGE; HYPERTROPHIC CARDIOMYOPATHY; LEFT VENTRICLES; SECONDARY STRUCTURES; THIN FILAMENTS; TROPONIN; VENTRICULAR FIBRILLATION;

GENES;

HEART;

ALANINE; CALCIUM ION; MUTANT PROTEIN; MYOSIN; MYOSIN ADENOSINE TRIPHOSPHATASE; SERINE; TROPONIN C;

ANIMAL TISSUE; ARTICLE; BINDING AFFINITY; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; ENZYME ACTIVATION; FAMILY HISTORY; FLUORESCENCE ANALYSIS; GENE; GENE IDENTIFICATION; GENE MUTATION; HEART MUSCLE CONTRACTILE FORCE; HEART VENTRICLE FIBRILLATION; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; MUTATIONAL ANALYSIS; MYOFILAMENT; NONHUMAN; PRIORITY JOURNAL; PROTEIN ISOLATION; PROTEIN SECONDARY STRUCTURE; SUDDEN DEATH; THIN FILAMENT; TNNC1 GENE;

ALLELES; BINDING SITES; CALCIUM; CARDIOMYOPATHY, HYPERTROPHIC; CIRCULAR DICHROISM; CLONING, MOLECULAR; COHORT STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MOLECULAR CONFORMATION; MUTATION; MYOCARDIUM; MYOFIBRILS; MYOSINS; TROPONIN C; VENTRICULAR FIBRILLATION;

EID: 84866431330     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M112.377713     Document Type: Article

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