Jinghua Hu, Yong Yu Polycystic Kidney Disease

Annotation

This volume focuses on the investigatory methods applied to autosomal dominant polycystic kidney disease (ADPKD), one of the most common human genetic diseases. ADPKD is caused by mutations in PKD1 and TRPP2, two integral membrane proteins that function as receptor/ion channels in primary cilia of tubular epithelial cells. Thus, ADPKD belongs to ciliopathies, a group of disorders caused by abnormal cilia formation or function. This proposed book will cover the state-of-the-art methods ranging from molecular biology, biochemistry, electrophysiology, to tools in model animal studies.Key FeaturesExplores the role of cilia in polycystic kidney diseaseFocuses on myriad state-of-the-art methods and techniquesReviews specific mutations integral to this autosomal genetic diseaseIncludes discussions of model systems