Striking in vivo phenotype of a disease-associated human scn5a mutation producing minimal changes in vitro

Circulation

Volumn 124, Issue 9, 2011, Pages 1001-1011

  Watanabe, Hiroshi ^a,c   Yang, Tao ^a   Stroud, Dina Myers ^a   Lowe, John S ^a   Harris, Louise ^d   Atack, Thomas C ^a   Wang, Dao W ^a,e   Hipkens, Susan B ^b   Leake, Brenda ^a   Hall, Lynn ^a   Kupershmidt, Sabina ^a   Chopra, Nagesh ^a   Magnuson, Mark A ^b   Tanabe, Naohito ^f   Knollmann, Björn C ^a   George, Alfred L ^a   Roden, Dan M ^a  

^a Department of Medicine and Pharmacology ^*  (United States)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^d UNIVERSITY OF TORONTO   (Canada)

^e NANJING MEDICAL UNIVERSITY   (China)

^f UNIVERSITY OF NIIGATA PREFECTURE   (Japan)

Author keywords

cardiomyopathy; electrophysiology; genetics; ion channels

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; PROTEIN SUBUNIT; RECOMBINASE; SODIUM CHANNEL NAV1.5;

ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CALCIUM CHANNELOPATHY; CASE REPORT; CHANNEL GATING; CHO CELL; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DEFIBRILLATOR; DNA MODIFICATION; ELECTROCARDIOGRAM; GENE CASSETTE; GENE DOSAGE; GENE EXPRESSION; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC ENGINEERING; GENOTYPE PHENOTYPE CORRELATION; HEART ATRIUM FIBRILLATION; HEART ATRIUM FLUTTER; HEART BLOCK; HEART MUSCLE CELL; HEART MUSCLE CONDUCTION DISTURBANCE; HEART MUSCLE CONTRACTILITY; HEART MUSCLE FIBROSIS; HEART VENTRICLE TACHYCARDIA; HETEROLOGOUS EXPRESSION; HISTOPATHOLOGY; HUMAN; IN VITRO STUDY; IN VIVO STUDY; MALE; MISSENSE MUTATION; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RECOMBINASE MEDIATED CASSETTE EXCHANGE; SINGLE NUCLEOTIDE POLYMORPHISM; SINUS ARREST; SINUS NODE DYSFUNCTION; SODIUM CURRENT; WILD TYPE;

ANIMALS; ATRIAL FLUTTER; CARDIOMYOPATHY, DILATED; CHO CELLS; CRICETINAE; CRICETULUS; DEFIBRILLATORS, IMPLANTABLE; ELECTROCARDIOGRAPHY; HUMANS; MALE; MICE; MICE, TRANSGENIC; MUTATION, MISSENSE; MYOCARDIAL CONTRACTION; SICK SINUS SYNDROME; SODIUM CHANNELS; TREATMENT OUTCOME; YOUNG ADULT;

EID: 80052300820     PISSN: 00097322     EISSN: 15244539     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.110.987248     Document Type: Article

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