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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
20
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pubmed:dateCreated |
2006-11-14
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pubmed:abstractText |
Congenital long-QT syndrome (LQTS) is a primary arrhythmogenic syndrome stemming from perturbed cardiac repolarization. LQTS, which affects approximately 1 in 3000 persons, is 1 of the most common causes of autopsy-negative sudden death in the young. Since the sentinel discovery of cardiac channel gene mutations in LQTS in 1995, hundreds of mutations in 8 LQTS susceptibility genes have been identified. All 8 LQTS genotypes represent primary cardiac channel defects (ie, ion channelopathy) except LQT4, which is a functional channelopathy because of mutations in ankyrin-B. Approximately 25% of LQTS remains unexplained pathogenetically. We have pursued a "final common pathway" hypothesis to elicit novel LQTS-susceptibility genes. With the recent observation that the LQT3-associated, SCN5A-encoded cardiac sodium channel localizes in caveolae, which are known membrane microdomains whose major component in the striated muscle is caveolin-3, we hypothesized that mutations in caveolin-3 may represent a novel pathogenetic mechanism for LQTS.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1524-4539
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pubmed:author |
pubmed-author:AckermanMichael JMJ,
pubmed-author:BalijepalliRavi CRC,
pubmed-author:EdeMM,
pubmed-author:FoellJason DJD,
pubmed-author:KampTimothy JTJ,
pubmed-author:LiZhaohuiZ,
pubmed-author:MakielskiJonathan CJC,
pubmed-author:TaylorErica WEW,
pubmed-author:TesterDavid JDJ,
pubmed-author:TowbinJeffrey AJA,
pubmed-author:UghanzeEnoh EEE,
pubmed-author:VattaMatteoM
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pubmed:issnType |
Electronic
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pubmed:day |
14
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pubmed:volume |
114
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2104-12
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pubmed:dateRevised |
2011-7-22
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pubmed:meshHeading |
pubmed-meshheading:17060380-Amino Acid Sequence,
pubmed-meshheading:17060380-Caveolin 3,
pubmed-meshheading:17060380-Cell Line,
pubmed-meshheading:17060380-DNA Mutational Analysis,
pubmed-meshheading:17060380-Electric Conductivity,
pubmed-meshheading:17060380-Electrocardiography,
pubmed-meshheading:17060380-Electrophysiology,
pubmed-meshheading:17060380-Female,
pubmed-meshheading:17060380-Humans,
pubmed-meshheading:17060380-Immunoprecipitation,
pubmed-meshheading:17060380-Long QT Syndrome,
pubmed-meshheading:17060380-Male,
pubmed-meshheading:17060380-Molecular Sequence Data,
pubmed-meshheading:17060380-Muscle Proteins,
pubmed-meshheading:17060380-Mutation,
pubmed-meshheading:17060380-Myocardium,
pubmed-meshheading:17060380-Sodium Channels,
pubmed-meshheading:17060380-Time Factors,
pubmed-meshheading:17060380-Transfection
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pubmed:year |
2006
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pubmed:articleTitle |
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
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pubmed:affiliation |
Department of Pediatrics (Cardiology), Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA. mvatta@bcm.tmc.edu
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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