作者: Albert C.M. Ong , Peter C. Harris
DOI: 10.1038/KI.2015.207
关键词:
摘要: It is 20 years since the identification of PKD1, major gene mutated in autosomal dominant polycystic kidney disease (ADPKD), followed closely by cloning PKD2. These breakthroughs have led turn to a period intense investigation into function two proteins encoded, polycystin-1 and polycystin-2, how defects either protein lead cyst formation nonrenal phenotypes. In this review, we summarize findings area present current model polycystin health disease.