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

Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies.

International journal of molecular sciences - 14 Jan 2020

Gianesello Lisa, Ceol Monica, Bertoldi Loris, Terrin Liliana, Priante Giovanna, Murer Luisa, Peruzzi Licia, Giordano Mario, Paglialonga Fabio, Cantaluppi Vincenzo, Musetti Claudio, Valle Giorgio, Del Prete Dorella, Anglani Franca, Network Dent Disease Italian

Abstract excerpt

Dent disease (DD), an X-linked renal tubulopathy, is mainly caused by loss-of-function mutations in CLCN5 (DD1) and OCRL genes. CLCN5 encodes the ClC-5 antiporter that in proximal tubules (PT) participates in the receptor-mediated endocytosis of low molecular weight proteins. Few studies have analyzed the PT expression of ClC-5 and of megalin and cubilin receptors in DD1 kidney biopsies. About 25% of DD cases...

Topics

Join the communities discussing this publication.

Biomarkers
Biopsy
Chloride Channels
DNA Mutational Analysis
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Association Studies

Immunohistochemistry

Kidney Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 31947599
DOI: 10.3390/ijms21020516
PMCID: PMC7014080

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies.PMID 31947599Read ↗

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

Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease.Semantic proximity Read ↗

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

Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents.Semantic proximity Read ↗

Genetic Analysis of Dent's Disease and Functional Research of CLCN5 Mutations.Semantic proximity Read ↗

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

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

Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function.Semantic proximity Read ↗

The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 PhenotypeSemantic proximity Read ↗

Global gene-expression analysis reveals the molecular processes underlying ClC-5 loss-of-function in novel Dent Disease 1 cellular modelsSemantic proximity Read ↗

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

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