Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation

Proceedings of the National Academy of Sciences of the United States of America

Volumn 113, Issue 24, 2016, Pages 6701-6706

  Homburger, Julian R ^a   Green, Eric M ^b   Caleshu, Colleen ^c   Sunitha, Margaret S ^d   Taylor, Rebecca E ^a   Ruppel, Kathleen M ^a   Metpally, Raghu Prasad Rao ^e   Colan, Steven D ^f   Michels, Michelle ^g   Day, Sharlene M ^h   Olivotto, Iacopo ⁱ   Bustamante, Carlos D ^a,j   Dewey, Frederick E ^k   Ho, Carolyn Y ^l   Spudich, James A ^a,d   Ashley, Euan A ^a,b  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MyoKardia   (United States)

^c STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^d Institute for Stem Cell Biology and Regenerative Medicine   (India)

^e GEISINGER MEDICAL CENTER   (United States)

^f BOSTON CHILDREN S HOSPITAL   (United States)

^g ERASMUS MEDICAL CENTER   (Netherlands)

^h UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

ⁱ CAREGGI UNIVERSITY HOSPITAL   (Italy)

^j STANFORD UNIVERSITY   (United States)

^k AB)   (United States)

^l BRIGHAM AND WOMEN S HOSPITAL   (United States)

more..

Author keywords

Genetic burden; Hypertrophic cardiomyopathy; Myosin; Rare disease genetics

Indexed keywords

MOLECULAR MOTOR; MYOSIN HEAVY CHAIN BETA; CARDIAC MYOSIN; MYH7 PROTEIN, HUMAN; MYOSIN HEAVY CHAIN;

ALLELE; ARTICLE; BINDING SITE; EXOME; GENE SEQUENCE; GENETIC VARIATION; HEART CONTRACTION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR MODEL; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN STRUCTURE; SARCOMERE; STRUCTURE ACTIVITY RELATION; CARDIOMEGALY; CHEMISTRY; ENZYMOLOGY; FEMALE; GENETIC DATABASE; GENETIC DISORDER; GENETICS; HEART FAILURE; MALE; METABOLISM; SUDDEN CARDIAC DEATH;

CARDIAC MYOSINS; CARDIOMEGALY; DATABASES, GENETIC; DEATH, SUDDEN, CARDIAC; FEMALE; GENETIC DISEASES, INBORN; GENETIC VARIATION; HEART FAILURE; HUMANS; MALE; MODELS, MOLECULAR; MYOSIN HEAVY CHAINS; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 84974803128     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1606950113     Document Type: Article

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