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lüll Intraflagellar transport and cilia-dependent renal disease: the ciliary hypothesis of polycystic kidney disease Pazour GJJ Am Soc Nephrol 2004[Oct]; 15 (10): 2528-36Epithelial cells that line mammalian kidney nephrons have solitary nonmotile primary cilium projecting from their surface into the lumens of the ducts and tubules. Mutations that block the assembly of these cilia cause cystic kidney disease. The products of human autosomal dominant and recessive polycystic kidney disease genes and products of the nephronophthisis disease genes are at least partially localized to primary cilia. This suggests that the cilium serves as an organizing center for the early steps of the signal transduction pathway that is responsible for monitoring the integrity of the kidney nephron and controlling cell proliferation and differentiation.|Animals[MESH]|Biological Transport, Active/*physiology[MESH]|Cell Proliferation[MESH]|Cilia/genetics/*pathology[MESH]|Flagella/genetics/*physiology[MESH]|Gene Expression Regulation[MESH]|Genetic Predisposition to Disease[MESH]|Humans[MESH]|Mice[MESH]|Mutation[MESH]|Polycystic Kidney Diseases/*genetics/*physiopathology[MESH]|Risk Factors[MESH]|Sensitivity and Specificity[MESH] |