Article
Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds.
Hearing research - 1 Apr 2006
Frey Andreas, Lampert Angelika, Waldegger Siegfried, Jeck Nikola, Waldegger Petra, Artunc Ferruh, Seebohm Guiscard, Lang Undine E, Kupka Susan, Pfister Markus, Hoppe Julia, Gerloff Christian, Schaeffeler Elke, Schwab Matthias, Lang Florian
Abstract excerpt
Hearing depends on functional ClC-K-type chloride channels composed of barttin with ClC-Ka or ClC-Kb. Loss-of-function mutations of the barttin gene BSND or of both, the ClC-Ka gene CLNKA and the ClC-Kb gene CLNKB lead to congenital deafness and renal salt wasting. Recently, we identified the gain-of-function mutation ClC-Kb(T481S) which is associated with increased blood pressure. To explore the impact of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.