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Molecular basis for autosomal-dominant renal Fanconi syndrome caused by HNF4A

ABSTRACT: A specific missense mutation in the DNA binding domain of HNF4A, R85W, causes Fanconi renotubular syndrome (FRTS). To confirm results found in Drosophila, a direct reprogramming approach was applied. Induced renal epithelial tubular cells (iRECs) were generated using transcription factors Hnf1b, Pax8 and either HNF4A WT or HNF4A R85W. RNA Seq analysis of reprogrammed cells shows mitochondrial dysfunction caused by the R85W mutation.

ORGANISM(S): Mus musculus

PROVIDER: GSE139674 | GEO | 2019/12/16

REPOSITORIES: GEO

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Molecular basis for autosomal-dominant renal Fanconi syndrome caused by HNF4A

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