Associated Papers
Homozygous NEK8 Mutations in Siblings With Neonatal Cholestasis Progressing to End-stage Liver, Renal, and Cardiac Disease.
Hassan S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2020
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.
Al-Hamed MH et al.
Journal of Medical Genetics, 2016
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.
Rajagopalan R et al.
American Journal of Medical Genetics. Part A, 2016
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
Grampa V et al.
Plos Genetics, 2016
NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies.
Choi HJ et al.
Molecular Cell, 2013
A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8.
McCooke JK et al.
Bmc Genomics, 2012
The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis.
Zalli D et al.
Human Molecular Genetics, 2012
NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis.
Otto EA et al.
Journal of the American Society of Nephrology : Jasn, 2008
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