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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Auteurs principaux: 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: article
Langue:EN
Publié: Nature Portfolio 2021
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R
Q
Accès en ligne:https://doaj.org/article/13bb7bdf8ff344ba8c2f370bc275a2ab
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