NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis

Abstract excerpt

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 is another model of recessive cystic kidney disease, and this mouse harbors a missense mutation, G448V, in the...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic and Kidney Cyst Diseases
• Share to Renal and related cancers
• Share to Renal cell carcinoma treatment