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NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology.
Kaimori JY, Lin CC, Outeda P, Garcia-Gonzalez MA, Menezes LF, Hartung EA, Li A, Wu G, Fujita H, Sato Y, Nakanuma Y, Yamamoto S, Ichimaru N, Takahara S, Isaka Y, Watnick T, Onuchic LF, Guay-Woodford LM, Germino GG. Kaimori JY, et al. Among authors: germino gg. Sci Rep. 2017 Aug 10;7(1):7733. doi: 10.1038/s41598-017-08284-4. Sci Rep. 2017. PMID: 28798345 Free PMC article.
Gene conversion is a likely cause of mutation in PKD1.
Watnick TJ, Gandolph MA, Weber H, Neumann HP, Germino GG. Watnick TJ, et al. Among authors: germino gg. Hum Mol Genet. 1998 Aug;7(8):1239-43. doi: 10.1093/hmg/7.8.1239. Hum Mol Genet. 1998. PMID: 9668165
136 results