Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation

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

Volumn 108, Issue 6, 2011, Pages 2456-2461

  Cappola, Thomas P ^a   Matkovich, Scot J ^b   Wang, Wei ^b   Van Booven, Derek ^b   Li, Mingyao ^a   Wang, Xuexia ^a   Qu, Liming ^a   Sweitzer, Nancy K ^c   Fang, James C ^d   Reilly, Muredach P ^a   Hakonarson, Hakon ^e   Nerbonne, Jeanne M ^b   Dorn II, Gerald W ^b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF WISCONSIN MADISON   (United States)

^d CASE WESTERN RESERVE UNIVERSITY   (United States)

^e CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Cardiomyopathy; Genetic association

Indexed keywords

CHLORIDE CHANNEL; MESSENGER RNA;

ARTICLE; BIOLOGICAL PHENOMENA AND FUNCTIONS CONCERNING ORGAN SYSTEMS; CARDIO RENAL AXIS; CARDIOVASCULAR RISK; CAUCASIAN; CLCNKA GENE; CLINICAL ASSESSMENT; DNA SEQUENCE; EXON; GENE; GENE DOSAGE; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HEART FAILURE; HUMAN; INTRON; LOSS OF FUNCTION MUTATION; PRIORITY JOURNAL; RNA SPLICING; SYSTOLIC HEART FAILURE;

ALLELES; AMINO ACID SUBSTITUTION; CHLORIDE CHANNELS; COHORT STUDIES; EXONS; FEMALE; GENOTYPE; HEART FAILURE; HSP27 HEAT-SHOCK PROTEINS; HUMANS; KIDNEY; MALE; MUTATION, MISSENSE; MYOCARDIUM; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 79952309013     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1017494108     Document Type: Article

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