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Article

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

BMC genomics - 16 Aug 2012

McCooke John K, Appels Rudi, Barrero Roberto A, Ding Alice, Ozimek-Kulik Justyna E, Bellgard Mathew I, Morahan Grant, Phillips Jacqueline K

Abstract excerpt

BACKGROUND: Nephronophthisis (NPHP) as a cause of cystic kidney disease is the most common genetic cause of progressive renal failure in children and young adults. NPHP is characterized by abnormal and/or loss of function of proteins associated with primary cilia. Previously, we characterized an autosomal recessive phenotype of cystic kidney disease in the Lewis Polycystic Kidney (LPK) rat. RESULTS: In this...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney Diseases, Cystic

Share to NIMA-Related Kinases

Share to Protein Serine-Threonine Kinases

Share to Protein Structure, Tertiary

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Source

Open in PubMed Open full text

Identifiers

PMID: 22899815
DOI: 10.1186/1471-2164-13-393
PMCID: PMC3441220

Genes

RCC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8.PMID 22899815Read ↗

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

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