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

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 previous stud...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440558/
https://www.ncbi.nlm.nih.gov/pubmed/34521872
http://dx.doi.org/10.1038/s41598-021-97046-4

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