Article
Identification of 108 SNPs in TSC, WNK1, and WNK4 and their association with hypertension in a Japanese general population.
Journal of human genetics - 1 Jan 2004
Kokubo Yoshihiro, Kamide Kei, Inamoto Nozomu, Tanaka Chihiro, Banno Mariko, Takiuchi Shin, Kawano Yuhei, Tomoike Hitonobu, Miyata Toshiyuki
Abstract excerpt
The deletion of thiazide-sensitive Na-Cl cotransporter ( TSC, SLC12A3) causes Gitelman's syndrome characterized by low blood pressure, while deletions of the WNK1 ( PRKWNK1) and WNK4 ( PRKWNK4) genes cause familial hypertension known as pseudohypoaldosteronism type II. Recent studies have revealed that cell surface expression of TSC is regulated by WNK1 and WNK4. We hypothesized that molecular variations in TSC,...
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