Discover Community Create You

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

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.

Human molecular genetics - 15 May 2010

Zaucke Frank, Boehnlein Joana M, Steffens Sarah, Polishchuk Roman S, Rampoldi Luca, Fischer Andreas, Pasch Andreas, Boehm Christoph W A, Baasner Anne, Attanasio Massimo, Hoppe Bernd, Hopfer Helmut, Beck Bodo B, Sayer John A, Hildebrandt Friedhelm, Wolf Matthias T F

Abstract excerpt

Uromodulin (UMOD) mutations are responsible for three autosomal dominant tubulo-interstitial nephropathies including medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy and glomerulocystic kidney disease. Symptoms include renal salt wasting, hyperuricemia,...

Read the complete abstract on PubMed

Topics

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

Share to Antibodies
Share to Cilia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Fluorescent Antibody Technique

Share to Kinesins

Share to Mucoproteins

Share to Mutant Proteins

Share to Uromodulin

Source

Open in PubMed Open full text

Identifiers

PMID: 20172860
DOI: 10.1093/hmg/ddq077
PMCID: PMC2860893

Genes

UMOD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20172860-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.PMID 20172860Read ↗

Uromodulin biology and pathophysiology--an update.Semantic proximity Read ↗

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

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

Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations: seek and you will find.Semantic proximity Read ↗

Uromodulin-associated kidney disease.Semantic proximity Read ↗

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.Semantic proximity Read ↗

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.Semantic proximity Read ↗

Uromodulin: from monogenic to multifactorial diseases.Semantic proximity Read ↗

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

Endoplasmic reticulum stress in UMOD-related kidney disease: a human pathologic study.Semantic proximity Read ↗

Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response.Semantic proximity Read ↗

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

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