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 channel in primary cilia of tubular epithelial cells. Thus, ADPKD belongs to ciliopathies, a group of disordered 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 selling features:
Studying cAMP signaling in ADPKD. Human Genetics of ADPKD. Epigenetics analysis of ADPKD. The cleavage of Polycystin and its physiological significant. Trafficking of polycystins in polarized epithelial cells. The Ciliary localziaiton of Polycystins. Electrophysiological recording polycystin-2 channel with two-electrod voltage clamp. Function and regulation of polycystin-L channel. Functional study of the polycstin-2 channel on primary cilia. Polycystin and calcium signaling in cell. Polycystin-2-dependent intraciliary calcium oscillations and the left-right asymmetry assembly in vertebrate. Clamydomanas as a model for PKD research. Polycystin and cilia in C. elegans. Renal regeneration. Whole exome sequencing for defining genetic landscapes in ADPKD. Molecular diagnosis of autosomal dominant polycystic kidney disease. Polycystions act as mechanosensors. Imaging analysis of ADPKD. NGS sequencing in ADPKD or ciliopathies.