NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis

Nephronophthisis, an autosomal recessive kidney disease, is the most frequent genetic cause of chronic renal failure in the first 3 decades of life. Causative mutations in 8 genes (NPHP1–8) have been identified, and homologous mouse models for NPHP2/INVS and NPHP3 have been described. The jck mouse...

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Bibliografiske detaljer
Main Authors: Otto, Edgar A., Trapp, Melissa L., Schultheiss, Ulla T., Helou, Juliana, Quarmby, Lynne M., Hildebrandt, Friedhelm
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Nephrology 2008
Fag:
Clinical Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2391043/
https://ncbi.nlm.nih.gov/pubmed/18199800
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2007040490
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