Compound heterozygous mutations inNEK8in siblings with end-stage renal disease with hepatic and cardiac anomalies

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

(2013) Valeska Frank et al.   HUMAN MOLECULAR GENETICS

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

(2013) Sylvia Hoff et al.   NATURE GENETICS

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

(2013) Umadevi Paila et al.   PLoS Computational Biology

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis

(2011) Detina Zalli et al.   HUMAN MOLECULAR GENETICS

SDM--a server for predicting effects of mutations on protein stability and malfunction

(2011) C. L. Worth et al.   NUCLEIC ACIDS RESEARCH

Nek family of kinases in cell cycle, checkpoint control and cancer

(2011) Larissa Moniz et al.   Cell Division

NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis

(2008) E. A. Otto et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY