Loss of transcriptional activation of the potassium channel Kir5.1 by HNF1β drives autosomal dominant tubulointerstitial kidney disease

HNF1β is an essential transcription factor for the development and functioning of the kidney. Mutations in HNF1β cause autosomal dominant tubulointerstitial kidney disease (ADTKD-HNF1β), which is characterized by renal cysts and maturity-onset diabetes of the young (MODY). Moreover, patients suffer...

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Publicat a:Kidney Int
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: 2017
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5903269/
https://ncbi.nlm.nih.gov/pubmed/28577853
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.kint.2017.03.034
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