ArticleThe journal of histochemistry and cytochemistry : official journal of the Histochemistry Society2015
Insights into the renal pathogenesis in Schimke immuno-osseous dysplasia: A renal histological characterization and expression analysis.
Article in The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society, 2015. 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, 21 citations in OpenAlex.
- Uncommon Factors Leading to Nephrotic Syndrome.Biomedicines · 2025Review
- Mechanisms of podocyte injury in genetic kidney disease.Pediatric nephrology (Berlin, Germany) · 2025Review
- When should the nephrologist think about genetics in patients with glomerular diseases?Clinical kidney journal · 2025Review
- Genetic and Clinical Features of Schimke Immuno-Osseous Dysplasia: Single-Centre Retrospective Study of 21 Unrelated Paediatric Patients over a Period of 20 Years.International journal of molecular sciences · 2025Article
- Schimke immunoosseous dysplasia (SIOD): Delayed onset of rare disease and novel variant.Qatar medical journal · 2025Article
- Schimke immuno-osseous dysplasia. A case report in Colombia.Molecular genetics and metabolism reports · 2023Article
- Sequential Stem Cell-Kidney Transplantation in Schimke Immuno-osseous Dysplasia.The New England journal of medicine · 2022Article
- T-cell receptor signaling in Schimke immuno-osseous dysplasia is SMARCAL1-independent.Frontiers in immunology · 2022Article
- Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report.BMC nephrology · 2020Article
- Whole Exome Sequencing Identified a Novel BiallelicFrontiers in genetics · 2019Article
- Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.PloS one · 2017Article
- Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?Orphanet journal of rare diseases · 2016Article
- The Genetics of Nephrotic Syndrome.Journal of pediatric genetics · 2016Review
- Inborn errors of immunity associated with characteristic phenotypes.Jornal de pediatriaReview
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Schimke immuno-osseous dysplasia (SIOD) is a pleiotropic disorder caused by mutations in the SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like-1 (SMARCAL1) gene, with multiple clinical features, notably end-stage renal disease. Here we characterize the renal pathology in SIOD patients. Our analysis of SIOD patient renal biopsies demonstrates the tip and collapsing variants of focal segmental glomerulosclerosis (FSGS). Additionally, electron microscopy revealed numerous glomerular abnormalities most notably in the podocyte and Bowman's capsule. To better understand the role of SMARCAL1 in the pathogenesis of FSGS, we defined SMARCAL1 expression in the developing and mature kidney. In the developing fetal kidney, SMARCAL1 is expressed in the ureteric epithelium, stroma, metanephric mesenchyme, and in all stages of the developing nephron, including the maturing glomerulus. In postnatal kidneys, SMARCAL1 expression is localized to epithelial tubules of the nephron, collecting ducts, and glomerulus (podocytes and endothelial cells). Interestingly, not all cells within the same lineage expressed SMARCAL1. In renal biopsies from SIOD patients, TUNEL analysis detected marked increases in DNA fragmentation. Our results highlight the cells that may contribute to the renal pathogenesis in SIOD. Further, we suggest that disruptions in genomic integrity during fetal kidney development contribute to the pathogenesis of FSGS in SIOD patients.
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