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Article

Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice.

Proceedings of the National Academy of Sciences of the United States of America - 4 Jan 2000

Upadhya P, Birkenmeier E H, Birkenmeier C S, Barker J E

Abstract excerpt

We previously have described a mouse model for polycystic kidney disease (PKD) caused by either of two mutations, kat or kat(2J), that map to the same locus on chromosome 8. The homozygous mutant animals have a latent onset, slowly progressing form of PKD with renal pathology similar to the human autosomal-dominant PKD. In addition, the mutant animals show pleiotropic effects that include facial dysmorphism,...

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Source

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Identifiers

PMID: 10618398
DOI: 10.1073/pnas.97.1.217
PMCID: PMC26643

Genes

NEK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice.PMID 10618398Read ↗

Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8.Semantic proximity Read ↗

A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish.Semantic proximity Read ↗

NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause NephronophthisisSemantic proximity Read ↗

A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8.Semantic proximity Read ↗

Defects in ciliary localization of Nek8 is associated with cystogenesis.Semantic proximity Read ↗

Nek8 regulates the expression and localization of polycystin-1 and polycystin-2.Semantic proximity Read ↗

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.Semantic proximity Read ↗

Loss of the ciliary kinase Nek8 causes left-right asymmetry defects.Semantic proximity Read ↗

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.Semantic proximity Read ↗

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.Semantic proximity Read ↗

NEK1 mutations cause short-rib polydactyly syndrome type majewski.Semantic proximity Read ↗

Polycystic kidney disease: a Hippo connection.Semantic proximity Read ↗

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