Human molecular genetic and functional studies identify TRIM63, encoding muscle RING finger protein 1, as a novel gene for human hypertrophic cardiomyopathy

Circulation Research

Volumn 111, Issue 7, 2012, Pages 907-919

  Chen, Suet Nee ^a   Czernuszewicz, Grazyna ^a   Tan, Yanli ^a   Lombardi, Raffaella ^a   Jin, Jianping ^a   Willerson, James T ^a   Marian, Ali J ^a  

^a UNIVERSITY OF TEXAS   (United States)

Author keywords

genetics; hypertrophic cardiomyopathy; hypertrophy; mutation; ubiquitin

Indexed keywords

CALCINEURIN; MAMMALIAN TARGET OF RAPAMYCIN; MAMMALIAN TARGET OF RAPAMYCIN COMPLEX 1; MESSENGER RNA; MUSCLE RING FINGER 1 PROTEIN; MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN; S6 KINASE; TRANSCRIPTION FACTOR NFAT; TRIPARTITE MOTIF CONTAINING 63; UNCLASSIFIED DRUG;

ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC VARIABILITY; HEART MUSCLE CELL; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; SARCOMERE; UBIQUITINATION;

AMINO ACID SEQUENCE; ANIMALS; CALCINEURIN; CARDIOMYOPATHY, HYPERTROPHIC; CASE-CONTROL STUDIES; FEMALE; GENE DELETION; HUMANS; MALE; MICE; MICE, TRANSGENIC; MODELS, ANIMAL; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUTATION, MISSENSE; MYOCYTES, CARDIAC; SARCOMERES; TOR SERINE-THREONINE KINASES; UBIQUITIN-PROTEIN LIGASES;

EID: 84866533811     PISSN: 00097330     EISSN: 15244571     Source Type: Journal    
DOI: 10.1161/CIRCRESAHA.112.270207     Document Type: Article

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