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
Exome sequencing in families with chronic central serous chorioretinopathy.
Schellevis RL et al.
Molecular Genetics & Genomic Medicine, 2019
30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_2
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
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
Select a paper to view details