Article
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.
Scientific reports - 14 Sept 2021
Yang Chaozhe, Harafuji Naoe, O'Connor Amber K, Kesterson Robert A, Watts Jacob A, Majmundar Amar J, Braun Daniela A, Lek Monkol, Laricchia Kristen M, Fathy Hanan M, Mane Shrikant, Shril Shirlee, Hildebrandt Friedhelm, Guay-Woodford Lisa M
Abstract excerpt
Mutation of the Cys1 gene underlies the renal cystic disease in the Cys1cpk/cpk (cpk) mouse that phenocopies human autosomal recessive polycystic kidney disease (ARPKD). Cystin, the protein product of Cys1, is expressed in the primary apical cilia of renal ductal epithelial cells. In previous studies, we showed that cystin regulates Myc expression via interaction with the tumor suppressor, necdin. Here, we...
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