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Article

Novel OCRL1 mutations in patients with the phenotype of Dent disease.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Dec 2006

Utsch Boris, Bökenkamp Arend, Benz Marcus R, Besbas Nesrin, Dötsch Jörg, Franke Ingo, Fründ Stefan, Gok Faysal, Hoppe Bernd, Karle Stephanie, Kuwertz-Bröking Eberhard, Laube Guido, Neb Margarita, Nuutinen Matti, Ozaltin Fatih, Rascher Wolfgang, Ring Troels, Tasic Velibor, van Wijk Joanna A E, Ludwig Michael

Abstract excerpt

BACKGROUND: Dent disease is an X-linked tubulopathy frequently caused by mutations affecting the voltage-gated chloride channel and chloride/proton antiporter ClC-5. A recent study showed that defects in OCRL1, encoding a phosphatidylinositol 4,5-bisphosphate 5-phosphatase (Ocrl) and usually foun...

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Source

Identifiers

PMID: 17162149
DOI: 10.1053/j.ajkd.2006.08.018

Genes

CLCN5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17162149-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel OCRL1 mutations in patients with the phenotype of Dent disease.PMID 17162149Read ↗

Dent Disease with mutations in OCRL1.Semantic proximity Read ↗

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.Semantic proximity Read ↗

A case of Dent disease type 2 with large deletion of OCRL diagnosed after close examination of a school urinary test.Semantic proximity Read ↗

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.Semantic proximity Read ↗

Dent's disease: clinical features and molecular basis.Semantic proximity Read ↗

Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?Semantic proximity Read ↗

OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.Semantic proximity Read ↗

OCRL1 mutations in patients with Dent disease phenotype in Japan.Semantic proximity Read ↗

An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes.Semantic proximity Read ↗

Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study.Semantic proximity Read ↗

Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.Semantic proximity Read ↗

Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.Semantic proximity Read ↗

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