title: The molecular biology of polycystic kidney disease.
abstract: In recent years there have been a number of developments in polycystic kidney disease (PKD) research. The genes associated with the predominant forms of autosomal dominant PKD have been cloned, and the gene associated with a mouse model for autosomal recessive PKD has been identified and characterized. Other studies have yielded new information regarding the role of the epidermal growth factor receptor gene in promoting renal cyst formation. In this review article we summarize recent published data on the molecular genetics of autosomal dominant and autosomal recessive PKD and provide a working model of how multiple genes participate in the PKD disease pathway.
authors.affiliation: Department of Pediatrics, Rainbow Babies and Children's Hospital and Case Western Reserve University, Cleveland, Ohio 44106, USA.
authors.forename: N S
authors.initials: NS
authors.lastname: Murcia
authors.forename: R P
authors.initials: RP
authors.lastname: Woychik
authors.forename: E D
authors.initials: ED
authors.lastname: Avner
mesh_terms: D000818:Animals; D066246:ErbB Receptors / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D051379:Mice; D007690:Polycystic Kidney Diseases / Q000235:genetics* / Q000378:metabolism; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics; D017044:Polycystic Kidney, Autosomal Recessive / Q000235:genetics; D011506:Proteins / Q000235:genetics; D050396:TRPP Cation Channels; D025521:Tumor Suppressor Proteins
chemical_list: D066246:ErbB Receptors; D008565:Membrane Proteins; D011506:Proteins; D050396:TRPP Cation Channels; D025521:Tumor Suppressor Proteins; C098623:IFT88 protein, human; C490898:Tg737Rpw protein, mouse