Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.

Journal of the American Society of Nephrology : JASN - 1 Nov 2003

Dahan Karin, Devuyst Olivier, Smaers Michèle, Vertommen Didier, Loute Guy, Poux Jean-Michel, Viron Béatrice, Jacquot Christian, Gagnadoux Marie-France, Chauveau Dominique, Büchler Mathias, Cochat Pierre, Cosyns Jean-Pierre, Mougenot Béatrice, Rider Mark H, Antignac Corinne, Verellen-Dumoulin Christine, Pirson Yves

Abstract excerpt

Familial juvenile hyperuricemic nephropathy (FJHN [MIM 162000]) is an autosomal-dominant disorder characterized by abnormal tubular handling of urate and late development of chronic interstitial nephritis leading to progressive renal failure. A locus for FJHN was previously identified on chromoso...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Mutational Analysis
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperuricemia

Share to Kidney Failure, Chronic

Share to Mucoproteins

Share to Multigene Family

Share to Pedigree

Share to Uromodulin

Source

Identifiers

PMID: 14569098
DOI: 10.1097/01.asn.0000092147.83480.b5

Genes

UMOD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14569098-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.PMID 14569098Read ↗

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.Semantic proximity Read ↗

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.Semantic proximity Read ↗

A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease.Semantic proximity Read ↗

Homozygosity for uromodulin disorders: FJHN and MCKD-type 2.Semantic proximity Read ↗

UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.Semantic proximity Read ↗

The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.Semantic proximity Read ↗

Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.Semantic proximity Read ↗

Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families.Semantic proximity Read ↗

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.Semantic proximity Read ↗

Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT).Semantic proximity Read ↗

Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking.Semantic proximity Read ↗

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulumSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.