Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression

Abstract Mutation of the Cys1 gene underlies the renal cystic disease in the Cys1 cpk/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 previ...

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Bibliografiske detaljer

Principais autores:	Chaozhe Yang, Naoe Harafuji, Amber K. O’Connor, Robert A. Kesterson, Jacob A. Watts, Amar J. Majmundar, Daniela A. Braun, Monkol Lek, Kristen M. Laricchia, Hanan M. Fathy, Shrikant Mane, Shirlee Shril, Friedhelm Hildebrandt, Lisa M. Guay-Woodford
Format:	Artigo
Sprog:	Inglês
Udgivet:	Nature Portfolio 2021-09-01
Serier:	Scientific Reports
Online adgang:	https://doi.org/10.1038/s41598-021-97046-4
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