Article
Pkhd1cyli/cyli mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease.
Journal of molecular medicine (Berlin, Germany) - 1 Sept 2023
Yang Chaozhe, Harafuji Naoe, Caldovic Ljubica, Yu Weiying, Boddu Ravindra, Bhattacharya Surajit, Barseghyan Hayk, Gordish-Dressman Heather, Foreman Oded, Bebok Zsuzsa, Eicher Eva M, Guay-Woodford Lisa M
Abstract excerpt
Autosomal-recessive polycystic kidney disease (ARPKD; MIM #263200) is a severe, hereditary, hepato-renal fibrocystic disorder that causes early childhood morbidity and mortality. Mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene, which encodes the protein fibrocystin/polyductin complex (FPC), cause all typical forms of ARPKD. Several mouse lines carrying diverse, genetically engineered...
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