ArticleBiomedicines2021
Unravelling the Role of PAX2 Mutation in Human Focal Segmental Glomerulosclerosis.
Article in Biomedicines, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 9 citations in OpenAlex.
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
- A Novel Pathogenic Variant inCase reports in obstetrics and gynecology · 2026Article
- Genotype-phenotype correlations and functional characterization of novelRenal failure · 2025Article
- Article
- Review
- Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2024Review
- Mice with aAmerican journal of physiology. Renal physiology · 2024Article
- Review
- Recurrence of focal segmental glomerulosclerosis: An updated review of pathophysiology, biomarkers, and therapeutic strategies.Cell transplantationReview
- Developmental Causes of Focal Segmental Glomerulosclerosis.Glomerular diseasesReview
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
Abstract
No effective treatments are available for familial steroid-resistant Focal Segmental Glomerulosclerosis (FSGS), characterized by proteinuria due to ultrastructural abnormalities in glomerular podocytes. Here, we studied a private PAX2 mutation identified in a patient who developed FSGS in adulthood. By generating adult podocytes using patient-specific induced pluripotent stem cells (iPSC), we developed an in vitro model to dissect the role of this mutation in the onset of FSGS. Despite the PAX2 mutation, patient iPSC properly differentiated into podocytes that exhibited a normal structure and function when compared to control podocytes. However, when exposed to an environmental trigger, patient podocytes were less viable and more susceptible to cell injury. Fixing the mutation improved their phenotype and functionality. Using a branching morphogenesis assay, we documented developmental defects in patient-derived ureteric bud-like tubules that were totally rescued by fixing the mutation. These data strongly support the hypothesis that the PAX2 mutation has a dual effect, first in renal organogenesis, which could account for a suboptimal nephron number at birth, and second in adult podocytes, which are more susceptible to cell death caused by environmental triggers. These abnormalities might translate into the development of proteinuria in vivo, with a progressive decline in renal function, leading to FSGS.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.