rdf:type |
|
lifeskim:mentions |
umls-concept:C0017337,
umls-concept:C0018787,
umls-concept:C0022009,
umls-concept:C0023976,
umls-concept:C0026882,
umls-concept:C0205374,
umls-concept:C0332183,
umls-concept:C0456962,
umls-concept:C0521116,
umls-concept:C0679058,
umls-concept:C1415618,
umls-concept:C1416561,
umls-concept:C1416562,
umls-concept:C1524003,
umls-concept:C1547699,
umls-concept:C2700640
|
pubmed:issue |
1-2
|
pubmed:dateCreated |
2004-11-26
|
pubmed:abstractText |
Long QT syndrome (LQTS) is a hereditary cardiac arrhythmogenic disorder characterized by prolongation of the QT interval in the electrocardiogram, torsades de pointes arrhythmia, and syncopes and sudden death. LQTS is caused by mutations in ion channel genes. However, only in half of the families is it possible to identify mutations in one of the seven known LQTS genes, why further genetic heterogeneity is expected. The genes KCND2 and KCND3, encoding the alpha-subunits of the voltage-gated potassium channels Kv4.2 and Kv4.3 conducting the fast transient outward current (I(TO,f)) of the cardiac action potential (AP) in the myocardium, have been associated with prolongation of AP duration and QT prolongation in murine models.
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pubmed:language |
eng
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pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Jan
|
pubmed:issn |
0009-8981
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pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:volume |
351
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
95-100
|
pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15563876-Action Potentials,
pubmed-meshheading:15563876-Alleles,
pubmed-meshheading:15563876-Animals,
pubmed-meshheading:15563876-Exons,
pubmed-meshheading:15563876-Gene Frequency,
pubmed-meshheading:15563876-Heart,
pubmed-meshheading:15563876-Humans,
pubmed-meshheading:15563876-Introns,
pubmed-meshheading:15563876-Long QT Syndrome,
pubmed-meshheading:15563876-Mice,
pubmed-meshheading:15563876-Mutation,
pubmed-meshheading:15563876-Myocardium,
pubmed-meshheading:15563876-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:15563876-Potassium Channels, Voltage-Gated,
pubmed-meshheading:15563876-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:15563876-Shal Potassium Channels
|
pubmed:year |
2005
|
pubmed:articleTitle |
Mutations in the genes KCND2 and KCND3 encoding the ion channels Kv4.2 and Kv4.3, conducting the cardiac fast transient outward current (ITO,f), are not a frequent cause of long QT syndrome.
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pubmed:affiliation |
Department of Clinical Biochemistry, Statens Serum Institut, Artillerivej 5, DK-2300 Copenhagen, Denmark.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|