Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans

Journal of Clinical Investigation

Volumn 119, Issue 4, 2009, Pages 1042-1050

  Edmondson, Andrew C ^a   Brown, Robert J ^a   Kathiresan, Sekar ^b,c,d   Cupples, L Adrienne ^e   Demissie, Serkalem ^e   Manning, Alisa Knodle ^e   Jensen, Majken K ^f   Rimm, Eric B ^f,g   Wang, Jian ^h   Rodrigues, Amrith ^a   Bamba, Vaneeta ^a   Khetarpal, Sumeet A ^a   Wolfe, Megan L ^a   DerOhannessian, Stephanie ^a   Li, Mingyao ^a   Reilly, Muredach P ^a   Aberle, Jens ⁱ   Evans, David ⁱ   Hegele, Robert A ^h   Rader, Daniel J ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e FRAMINGHAM HEART STUDY   (United States)

^f HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^g BRIGHAM AND WOMEN S HOSPITAL   (United States)

^h ROBARTS RESEARCH INSTITUTE   (Canada)

ⁱ UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL LIPASE; LIPG PROTEIN, HUMAN;

ADULT; AGED; AMINO ACID SEQUENCE; ANIMAL EXPERIMENT; ARTICLE; BLOOD SAMPLING; CELL STRAIN HEK293; CHOLESTEROL BLOOD LEVEL; ENZYME ACTIVITY; EXON; FEMALE; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; HYPERCHOLESTEROLEMIA; IN VITRO STUDY; IN VIVO STUDY; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; AMINO ACID SUBSTITUTION; ANIMAL; ATHEROSCLEROSIS; BLOOD; C57BL MOUSE; CHEMISTRY; COHORT ANALYSIS; CROSS-SECTIONAL STUDY; ENZYMOLOGY; GENE DELETION; GENETICS; MIDDLE AGED; MOUSE MUTANT; MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; AMINO ACID SUBSTITUTION; ANIMALS; ATHEROSCLEROSIS; CHOLESTEROL, HDL; COHORT STUDIES; CROSS-SECTIONAL STUDIES; EXONS; FEMALE; GENETIC VARIATION; HUMANS; LIPASE; MALE; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION;

EID: 65249186429     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI37176     Document Type: Article

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