Article
Loss of transcriptional activation of the potassium channel Kir5.1 by HNF1β drives autosomal dominant tubulointerstitial kidney disease.
Kidney international - 1 Nov 2017
Kompatscher Andreas, de Baaij Jeroen H F, Aboudehen Karam, Hoefnagels Anke P W M, Igarashi Peter, Bindels René J M, Veenstra Gertjan J C, Hoenderop Joost G J
Abstract excerpt
Hepatocyte nuclear factor 1 homeobox B (HNF1β) is an essential transcription factor for the development and functioning of the kidney. Mutations in HNF1β cause autosomal dominant tubulointerstitial kidney disease characterized by renal cysts and maturity-onset diabetes of the young (MODY). Moreover, these patients suffer from a severe electrolyte phenotype consisting of hypomagnesemia and hypokalemia. Until now,...
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