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

Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5' UTR end of ClC-5 mRNA in human renal tissue and leukocytes.

Journal of human genetics - 1 Jan 2004

Forino Monica, Graziotto Romina, Tosetto Enrica, Gambaro Giovanni, D'Angelo Angela, Anglani Franca

Abstract excerpt

Mutations in the CLCN5 gene have been detected in Dent's disease and its phenotypic variants (X-linked recessive nephrolithiasis, X-linked recessive hypophosphatemic rickets, and idiopathic low-molecular-weight proteinuria of Japanese children). Dent's disease is a tubular disorder characterized by low-molecular-weight proteinuria, and nephrolithiasis associated with nephrocalcinosis and hypercalciuria. ClC-5 is...

Read the complete abstract on PubMed

Topics

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

Share to 5' Untranslated Regions
Share to Chloride Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Complementary

Share to Gene Components

Share to Kidney

Share to Kidney Calculi

Share to Leukocytes

Share to RNA Splice Sites

Source

Identifiers

PMID: 14673707
DOI: 10.1007/s10038-003-0108-1

Genes

CLCN5
AGT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5' UTR end of ClC-5 mRNA in human renal tissue and leukocytes.PMID 14673707Read ↗

Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant.Semantic proximity Read ↗

Characterization of renal chloride channel (CLCN5) mutations in Dent's disease.Semantic proximity Read ↗

Renal chloride channel, CLCN5, mutations in Dent's disease.Semantic proximity Read ↗

Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.Semantic proximity Read ↗

A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.Semantic proximity Read ↗

Isolation and characterization of the human CLC-5 chloride channel gene promoter.Semantic proximity Read ↗

From protein uptake to Dent disease: An overview of the CLCN5 gene.Semantic proximity Read ↗

A novel likely pathogenic CLCN5 variant in Dent’s diseaseSemantic proximity Read ↗

A common molecular basis for three inherited kidney stone diseases.Semantic proximity Read ↗

Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease.Semantic proximity Read ↗

Dent Disease 1 Associated with a Rare Novel Renal Chloride Channel 5 Variant in a Chinese Family.Semantic proximity Read ↗

Molecular analysis of the CLCN5 gene in Dent's disease: first mutation identified in a patient from South America.Semantic proximity Read ↗

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