ArticleKidney international reports2018
A Novel CLCN5 Mutation Associated With Focal Segmental Glomerulosclerosis and Podocyte Injury.
Article in Kidney international reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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Who cites it
19 citing papers in PubMed, 31 citations in OpenAlex.
- Morphofunctional characterization of the ClC-5 chloride channel in the frog's kidney.Histochemistry and cell biology · 2026Article
- Quantification of single cell-type-specific alternative transcript initiation.bioRxiv : the preprint server for biology · 2025Article
- Pediatric Dent disease presenting with rickets and end-stage renal disease: case report and literature review.The Journal of international medical research · 2024Review
- Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis?Pediatric nephrology (Berlin, Germany) · 2024Review
- Phenotype-Genotype Correlations in Three Different Cases of Adult-Onset Genetic Focal Segmental Glomerulosclerosis.International journal of molecular sciences · 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
- Podocyte Endocytosis in Regulating the Glomerular Filtration Barrier.Frontiers in medicine · 2022Review
- Ion channels as a therapeutic target for renal fibrosis.Frontiers in physiology · 2022Review
- Review
- Glomerular podocyte dysfunction in inherited renal tubular disease.World journal of pediatrics : WJP · 2021Review
- Dent disease: classification, heterogeneity and diagnosis.World journal of pediatrics : WJP · 2021Review
- Genetic and pathological findings in a boy with psoriasis and C3 glomerulonephritis: A case report and literature review.Molecular genetics & genomic medicine · 2020Review
- Podocytopathies.Nature reviews. Disease primers · 2020Review
- Review
- A role for OCRL in glomerular function and disease.Pediatric nephrology (Berlin, Germany) · 2020Article
- A NovelJournal of pediatric genetics · 2019Article
- Disruption of the exocyst induces podocyte loss and dysfunction.The Journal of biological chemistry · 2019Article
- Barttin Regulates the Subcellular Localization and Posttranslational Modification of Human ClFrontiers in physiology · 2018Article
- Developmental Causes of Focal Segmental Glomerulosclerosis.Glomerular diseasesReview
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
introductionTubular dysfunction is characteristic of Dent's disease; however, focal segmental glomerulosclerosis (FSGS) can also be present. Glomerulosclerosis could be secondary to tubular injury, but it remains uncertain whether the
methodsWhole exome capture and sequencing of the proband and 5 maternally-related family members was conducted to identify X-linked mutations associated with biopsy-proven FSGS. Human podocyte cultures were used to characterize the mutant phenotype on podocyte function.
resultsWe identified a novel mutation (L521F) in
conclusionsThe
Indexed as
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What OpenQuestion holds
Registered trials
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