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

Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.

Clinical and experimental nephrology - 1 Jul 2020

Inoue Tomohiko, Nagano China, Matsuo Masafumi, Yamamura Tomohiko, Sakakibara Nana, Horinouchi Tomoko, Shibagaki Yugo, Ichikawa Daisuke, Aoto Yuya, Ishiko Shinya, Ishimori Shingo, Rossanti Rini, Iijima Kazumoto, Nozu Kandai

Abstract excerpt

BACKGROUND: In recent years, the elucidation of splicing abnormalities as a cause of hereditary diseases has progressed. However, there are no comprehensive reports of suspected splicing variants in the CLCN5 gene in Dent disease cases. We reproduced gene mutations by mutagenesis, inserted the mutated genes into minigene vectors, and investigated the pathogenicity and onset mechanisms of these variants. METHODS:...

Read the complete abstract on PubMed

Topics

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

Share to Chloride Channels
Share to Computer Simulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Databases, Genetic

Share to DNA, Recombinant

Share to Genetic Diseases, X-Linked

Share to HEK293 Cells

Share to HeLa Cells

Share to Nephrolithiasis

Source

Open in PubMed Open full text

Identifiers

PMID: 32201916
DOI: 10.1007/s10157-020-01876-x
PMCID: PMC7935734

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.PMID 32201916Read ↗

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 ↗

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

Pathogenicity analysis and splicing rescue of a classical splice site variant (c.1343+1G>T) of CNOT1 gene associated with neurodevelopmental disorders.Semantic proximity Read ↗

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

Minigene Assay as an Effective Molecular Diagnostic Strategy in Determining the Pathogenicity of Noncanonical Splice-Site Variants in FLCNSemantic proximity Read ↗

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

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.Semantic proximity Read ↗

RT-PCR analysis of mRNA revealed the splice-altering effect of rare intronic variants in monogenic disorders.Semantic proximity Read ↗

SpliceDisease database: linking RNA splicing and disease.Semantic proximity Read ↗

Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories.Semantic proximity Read ↗

RNA-seq analysis, targeted long-read sequencing, and in silico prediction to unravel pathogenic intronic events and predict the regulatory mechanisms underlying complex splicing abnormalities in patients with dystrophinopathySemantic proximity Read ↗

RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disordersSemantic proximity Read ↗

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