title: The cell biology of polycystic kidney disease.
abstract: Polycystic kidney disease is a common genetic disorder in which fluid-filled cysts displace normal renal tubules. Here we focus on autosomal dominant polycystic kidney disease, which is attributable to mutations in the PKD1 and PKD2 genes and which is characterized by perturbations of renal epithelial cell growth control, fluid transport, and morphogenesis. The mechanisms that connect the underlying genetic defects to disease pathogenesis are poorly understood, but their exploration is shedding new light on interesting cell biological processes and suggesting novel therapeutic targets.
authors.affiliation: Department of Cellular and Molecular Physiology, Yale University School of Medicine, New Haven, CT 06520, USA.
authors.forename: Hannah C
authors.initials: HC
authors.lastname: Chapin
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Caplan
mesh_terms: D000818:Animals; D019204:GTP-Binding Proteins / Q000378:metabolism; D006801:Humans; D007668:Kidney / Q000473:pathology / Q000503:physiopathology; D008958:Models, Molecular; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D015398:Signal Transduction / Q000502:physiology; D050396:TRPP Cation Channels / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D051153:Wnt Proteins / Q000378:metabolism
chemical_list: D019204:GTP-Binding Proteins; D050396:TRPP Cation Channels; D051153:Wnt Proteins