Article
Different phenotypes of HNF1ß deletion mutants in familial multicystic dysplastic kidneys.
Clinical nephrology - 1 Jun 2013
Hasui Masafumi, Kaneko Kazunari, Tsuji Shoji, Isozaki Yuka, Kimata Takahisa, Nozu Yoshimi, Nozu Kandai, Iijima Kazumoto
Abstract excerpt
Multicystic dysplastic kidney (MCDK) is one of the most common congenital abnormalities of the kidney and urinary tract (CAKUT), although its pathophysiology remains unknown. Familial occurrence of MCDK suggests that mutations in genes associated with nephrogenesis are involved in the pathogenesis in at least some cases. Hepatocyte nuclear factor 1β (HNF1β) is a member of the homeodomain-containing super family...
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