Article
Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension.
Hypertension (Dallas, Tex. : 1979) - 1 Jun 2004
Jeck Nikola, Waldegger Siegfried, Lampert Angelika, Boehmer Christoph, Waldegger Petra, Lang Philipp A, Wissinger Bernd, Friedrich Björn, Risler Teut, Moehle Robert, Lang Undine E, Zill Peter, Bondy Brigitta, Schaeffeler Elke, Asante-Poku Stephen, Seyberth Hannsjörg, Schwab Matthias, Lang Florian
Abstract excerpt
The chloride channel ClC-Kb is expressed in the basolateral cell membrane of the distal nephron and participates in renal NaCl reabsorption. Loss-of-function mutations of ClC-Kb lead to classic Bartter syndrome, a rare salt-wasting disorder. Recently, we identified the ClC-Kb(T481S) polymorphism, which confers a strong gain-of-function effect on the ClC-Kb chloride channel. The present study has been performed to...
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