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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.
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
URL: https://doi.org/10.1016/j.gde.2019.07.005
DOI: 10.1016/j.gde.2019.07.005