Program in Molecular Medicine
Animals; Biological Transport, Active; Cell Proliferation; Cilia; Flagella; Gene Expression Regulation; Genetic Predisposition to Disease; Humans; Mice; Mutation; Polycystic Kidney Diseases; Risk Factors; Sensitivity and Specificity
Cellular and Molecular Physiology | Urology
Epithelial 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.
DOI of Published Version
J Am Soc Nephrol. 2004 Oct;15(10):2528-36. Link to article on publisher's site
Journal of the American Society of Nephrology : JASN
Pazour GJ. (2004). Intraflagellar transport and cilia-dependent renal disease: the ciliary hypothesis of polycystic kidney disease. Open Access Articles. https://doi.org/10.1097/01.ASN.0000141055.57643.E0. Retrieved from https://escholarship.umassmed.edu/oapubs/646