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Article

Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice.

Journal of the American Society of Nephrology : JASN - 1 Jan 2001

Omran Heymut, Häffner Karsten, Burth Suse, Fernandez Carmen, Fargier Bernardo, Villaquiran Aminta, Nothwang Hans-Gerd, Schnittger Susanne, Lehrach Hans, Woo David, Brandis Matthias, Sudbrak Ralf, Hildebrandt Friedhelm

Abstract excerpt

In a large Venezuelan kindred, a new type of nephronophthisis was recently identified: Adolescent nephronophthisis (NPH3) is a late-onset recessive renal cystic disorder of the nephronophthisis/medullary cystic group of diseases causing end-stage renal disease at a median age of 19 yr. With the use of a homozygosity mapping strategy, the gene (NPHP3) was previously localized to chromosome 3q22 within a critical...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11134256
DOI: 10.1681/ASN.V121107

Genes

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice.PMID 11134256Read ↗

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.Semantic proximity Read ↗

Evidence for further genetic heterogeneity in nephronophthisis.Semantic proximity Read ↗

Molecular Genetics of Nephronophthisis and Medullary Cystic Kidney DiseaseSemantic proximity Read ↗

Renal Tubule-Specific Deletion of Nephrocystin 3 (Nphp3) Causes Infantile Nephronophthisis-like Phenotypes in Mice.Semantic proximity Read ↗

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.Semantic proximity Read ↗

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

Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adultsSemantic proximity Read ↗

Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan PedigreeSemantic proximity Read ↗

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.Semantic proximity Read ↗

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathySemantic proximity Read ↗

Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.Semantic proximity Read ↗

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.Semantic proximity Read ↗

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