期刊
KIDNEY INTERNATIONAL
卷 88, 期 4, 页码 699-710出版社
ELSEVIER SCIENCE INC
DOI: 10.1038/ki.2015.207
关键词
ADPKD; PKD1; PKD2; polycystin-1; polycystin-2; TRPP2
资金
- Wellcome Trust [WT071201MA]
- Medical Research Council
- Research Councils UK
- Kidney Research UK
- PKD Foundation
- European Union (EU-FP7) [317246]
- NIH/NIDDK [DK058816, DK090728]
- Kidney Research UK [RP19/2010] Funding Source: researchfish
It is 20 years since the identification of PKD1, the major gene mutated in autosomal dominant polycystic kidney disease (ADPKD), followed closely by the cloning of PKD2. These major breakthroughs have led in turn to a period of intense investigation into the function of the two proteins encoded, polycystin-1 and polycystin-2, and how defects in either protein lead to cyst formation and nonrenal phenotypes. In this review, we summarize the major findings in this area and present a current model of how the polycystin proteins function in health and disease.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据