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Article

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.

Nature genetics - 1 Oct 2002

Mollet Géraldine, Salomon Rémi, Gribouval Olivier, Silbermann Flora, Bacq Delphine, Landthaler Gilbert, Milford David, Nayir Ahmet, Rizzoni Gianfranco, Antignac Corinne, Saunier Sophie

Abstract excerpt

Nephronophthisis, the most common genetic cause of chronic renal failure in children, is a progressive tubulo-interstitial kidney disorder that is inherited as an autosomal recessive trait. The disease is characterized by polyuria, growth retardation and deterioration of renal function during childhood or adolescence. The most prominent histological features are modifications of the tubules with thickening of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12244321
DOI: 10.1038/ng996

Genes

NPHP4
NPHP1
NPHP3

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.

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