Variants in the 3′ untranslated region of the KCNQ1-encoded K v7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner

European Heart Journal

Volumn 33, Issue 6, 2012, Pages 714-723

  Amin, Ahmad S ^a   Giudicessi, John R ^b,c   Tijsen, Anke J ^a   Spanjaart, Anne M ^a   Reckman, Yolan J ^a   Klemens, Christine A ^a   Tanck, Michael W ^a   Kapplinger, Jamie D ^b,c   Hofman, Nynke ^a   Sinner, Moritz F ^d   Mller, Martina ^d,e   Wijnen, Wino J ^a   Tan, Hanno L ^a   Bezzina, Connie R ^a   Creemers, Esther E ^a   Wilde, Arthur A M ^a   Ackerman, Michael J ^b,c   Pinto, Yigal M ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b MAYO GRADUATE SCHOOL   (United States)

^c Windland Smith Rice Sudden Death Genomics Laboratory   (United States)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

Author keywords

3 untranslated region; KCNQ1; Long QT syndrome; QTc; Single nucleotide polymorphism

Indexed keywords

POTASSIUM CHANNEL KCNQ1; VOLTAGE GATED POTASSIUM CHANNEL; KCNQ1 PROTEIN, HUMAN; LUCIFERASE;

3' UNTRANSLATED REGION; ADULT; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; GENETIC VARIABILITY; HUMAN; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE; ALLELE; ANIMAL; ELECTROCARDIOGRAPHY; ENZYMOLOGY; GENETIC TRANSFECTION; GENETICS; HEART MUSCLE CELL; HETEROZYGOTE; METABOLISM; MUTATION; RAT;

3' UNTRANSLATED REGIONS; ADULT; ALLELES; ANIMALS; ELECTROCARDIOGRAPHY; FEMALE; GENETIC VARIATION; HETEROZYGOTE; HUMANS; KCNQ1 POTASSIUM CHANNEL; LUCIFERASES; MALE; MUTATION; MYOCYTES, CARDIAC; POLYMORPHISM, SINGLE NUCLEOTIDE; RATS; ROMANO-WARD SYNDROME; TRANSFECTION;

EID: 84858417162     PISSN: 0195668X     EISSN: 15229645     Source Type: Journal    
DOI: 10.1093/eurheartj/ehr473     Document Type: Article

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