期刊
CIRCULATION RESEARCH
卷 108, 期 7, 页码 884-U245出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1161/CIRCRESAHA.110.238469
关键词
sodium channel; arrhythmias; sudden cardiac death
资金
- Leducq Foundation [CVD05]
- Fondos Investigacion Sanitarias (FIS)
- Centro Nacional Investigaciones Cardiologicas (CNIC)
- Obra Social La Caixa
Variations in the gene encoding for the major sodium channel (Na(v)1.5) in the heart, SCN5A, has been shown to cause a number of arrhythmia syndromes (with or without structural changes in the myocardium), including the long-QT syndrome (type 3), Brugada syndrome, (progressive) cardiac conduction disease, sinus node dysfunction, atrial fibrillation, atrial standstill, and dilated cardiomyopathy. Of equal importance are variations in genes encoding for various subunits and regulatory proteins interacting with the alpha-subunit Na(v)1.5 and modifying its function. Based on detailed studies of genotype-phenotype relationships in these disease entities, on detailed studies of the basic electrophysiological phenotypes (heterologous expressed wild-type and mutant sodium channels and their interacting proteins), and on attempts to integrate the obtained knowledge, the past 15 years has witnessed an explosion of knowledge about these disease entities. (Circ Res. 2011; 108: 884-897.)
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