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Renal ciliopathies

Lookup NU author(s): Laura Devlin, Professor John SayerORCiD


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© 2019 Elsevier LtdRenal ciliopathies are a group of disorders characterised by nephronophthisis, cystic kidneys or renal cystic dysplasia whose underlying disease pathogenesis is related to abnormal structure or function of the primary cilia complex. The number of renal ciliopathies continues to expand as genomic and genetic approaches identify novel causes. This in turn provides new opportunities to explore disease mechanisms and therapeutic approaches to target cystic kidney disease and other associated phenotypes. Here we review recent advances in the field of renal ciliopathies and how these allow new insights into this fascinating spectrum of diseases.

Publication metadata

Author(s): Devlin LA, Sayer JA

Publication type: Review

Publication status: Published

Journal: Current Opinion in Genetics and Development

Year: 2019

Volume: 56

Pages: 49-60

Online publication date: 13/08/2019

Acceptance date: 02/04/2016

ISSN (print): 0959-437X

ISSN (electronic): 1879-0380

Publisher: Elsevier Ltd


DOI: 10.1016/j.gde.2019.07.005