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Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness

Schlingmann, Karl P. ; Renigunta, Aparna ; Hoorn, Ewout J. ; Forst, Anna-Lena ; Renigunta, Vijay ; Atanasov, Velko ; Mahendran, Sinthura ; Barakat, Tahsin Stefan ; Gillion, Valentine ; Godefroid, Nathalie ; Brooks, Alice S. ; Lugtenberg, Dorien ; Lake, Jennifer ; Debaix, Huguette ; Rudin, Christoph ; Knebelmann, Bertrand ; Tellier, Stephanie ; Rousset-Rouvière, Caroline ; Viering, Daan ; de Baaij, Jeroen H. F. ; Weber, Stefanie ; Palygin, Oleg ; Staruschenko, Alexander ; Kleta, Robert ; Houillier, Pascal ; Bockenhauer, Detlef ; Devuyst, Olivier ; Vargas-Poussou, Rosa ; Warth, Richard ; Zdebik, Anselm A. ; Konrad, Martin



Abstract

Background The transepithelial transport of electrolytes, solutes, and water in the kidney is a well-orchestrated process involving numerous membrane transport systems. Basolateral potassium channels in tubular cells not only mediate potassium recycling for proper Na+,K+-ATPase function but are also involved in potassium and pH sensing. Genetic defects in KCNJ10 cause EAST/SeSAME syndrome, ...

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