Polycystic Kidney Disease Section

of the Kidney Diseases Branch

Understanding how mutations in PKD genes cause polycystic kidney disease

Select Publications

Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities.
Ishimoto Y, Menezes LF, Nakaya N, Barbosa-Sabanero K, Horie Y, Yoshida T, Reece JM, Zhou F, Tomarev S, Kerosuo L, Germino GG.
Nat Commun (2026 Jul 23) 17. Abstract/Full Text
A novel ARPKD mouse model with near-complete deletion of the Polycystic Kidney and Hepatic Disease 1 (Pkhd1) genomic locus presents with multiple phenotypes but not renal cysts.
Ishimoto Y, Menezes LF, Zhou F, Yoshida T, Komori T, Qiu J, Young MF, Lu H, Potapova S, Outeda P, Watnick T, Germino GG.
Kidney Int (2023 Sep) 104:611-616. Abstract/Full Text
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Polycystic Kidney Disease section group photo 2023
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Last Reviewed October 2024