ArticleInternational journal of molecular sciences2020
Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies.
Article in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 25 citations in OpenAlex.
- Molecular Mechanisms of CLCN5 Missense Mutations in Dent Disease Type 1: A Comprehensive Computational Analysis and Clinical Correlations in a Chinese Cohort.Journal of cellular and molecular medicine · 2026Article
- Bioinformatics analysis of aZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2025Article
- 4-Phenylbutyric Acid Treatment Reduces Low-Molecular-Weight Proteinuria in aInternational journal of molecular sciences · 2024Article
- The Apical Endocytic-Lysosomal Apparatus in CLCN5 Mutations with Phenotypic-Genotypic Correlations in Three Cases.International journal of molecular sciences · 2024Article
- A novel likely pathogenic CLCN5 variant in Dent's disease.BMC nephrology · 2023Article
- Emerging Perspectives on the Rare Tubulopathy Dent Disease: Is Glomerular Damage a Direct Consequence of ClC-5 Dysfunction?International journal of molecular sciences · 2023Article
- Lentiviral vector mediated gene therapy for type I Dent disease ameliorates Dent disease-like phenotypes for three months in ClC-5 null mice.Molecular therapy. Methods & clinical development · 2022Article
- Downregulation of megalin, cubilin, ClC-5 and podocin in Fabry nephropathy: potential implications in the decreased effectiveness of enzyme replacement therapy.Journal of nephrology · 2021Article
- Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function.Human molecular genetics · 2021Article
- Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.Human genetics · 2021Review
- Review
- Editorial of Special Issue "Rare Kidney Diseases: New Translational Research Approach to Improve Diagnosis and Therapy".International journal of molecular sciences · 2020Article
- Making a Dent in Dent Disease.Function (Oxford, England) · 2020Review
- Dual-Genetic Etiology in an Atypical Dent Disease Phenotype Which Combines Features of Focal Segmental Glomerulosclerosis and Ellis-Van Creveld-Like Syndrome: A Case Report.Case reports in nephrology and dialysisArticle
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Authors and funding
15 authors at 5 institutions in 1 country.
Funding
Abstract
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 lack mutations in either CLCN5 or OCRL genes (DD3), and no other disease genes have been discovered so far. Sanger sequencing was used for CLCN5 gene analysis in 158 unrelated males clinically suspected of having DD. The tubular expression of ClC-5, megalin, and cubilin was assessed by immunolabeling in 10 DD1 kidney biopsies. Whole exome sequencing (WES) was performed in eight DD3 patients. Twenty-three novel CLCN5 mutations were identified. ClC-5, megalin, and cubilin were significantly lower in DD1 than in control biopsies. The tubular expression of ClC-5 when detected was irrespective of the type of mutation. In four DD3 patients, WES revealed 12 potentially pathogenic variants in three novel genes (SLC17A1, SLC9A3, and PDZK1), and in three genes known to be associated with monogenic forms of renal proximal tubulopathies (SLC3A, LRP2, and CUBN). The supposed third Dent disease-causing gene was not discovered.
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