Associated Papers
Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies.
Varughese S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2026
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6
Functional Analysis of a De Novo Monoallelic NEK8 Variant Supports Pathogenicity for a Polycystic Kidney Disease Phenotype.
Thompson WS et al.
Kidney International Reports, 2025
Phenotypic outcomes of PKD1 compared with non-PKD1 genetically confirmed autosomal dominant polycystic kidney disease.
Elhassan EAE et al.
Journal of Nephrology, 2025
NEK8, a NIMA-family protein kinase at the core of the ciliary INV complex.
Roig J
Cell Communication and Signaling : Ccs, 2025
The dominant findings of a recessive man: from Mendel's kid pea to kidney.
Tory K
Pediatric Nephrology (berlin, Germany), 2024
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus LR et al.
Kidney International, 2023
NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?
Mehawej C et al.
Nephron, 2023
Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.
Obeidova L et al.
Plos One, 2020
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