ArticleThe American journal of pathology1999
WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis.
Article in The American journal of pathology, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 114 citations in OpenAlex.
- PLCε regulates podocyte differentiation and TGF-β1 responses via alteration of SMAD2/SMAD3 ratio.Cell communication and signaling : CCS · 2026Article
- Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.European journal of human genetics : EJHG · 2025Article
- Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis?Pediatric nephrology (Berlin, Germany) · 2024Review
- Multiplexed bulk and single-cell RNA-seq hybrid enables cost-efficient disease modeling with chimeric organoids.Nature communications · 2024Article
- Central role of podocytes in mediating cellular cross talk in glomerular health and disease.American journal of physiology. Renal physiology · 2024Review
- Mitochondrial Oxidative Stress and Cell Death in Podocytopathies.Biomolecules · 2022Review
- The Pathology Lesion Patterns of Podocytopathies: How and why?Frontiers in cell and developmental biology · 2022Review
- A novel WT1 gene mutation in a chinese girl with denys-drash syndrome.Journal of clinical laboratory analysis · 2021Article
- Activation of podocyte Notch mediates early Wt1 glomerulopathy.Kidney international · 2018Article
- Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.Pediatric nephrology (Berlin, Germany) · 2018Article
- FAT1 mutations cause a glomerulotubular nephropathy.Nature communications · 2016Article
- PAX2 in human kidney malformations and disease.Pediatric nephrology (Berlin, Germany) · 2012Review
- De novo expression of podocyte proteins in parietal epithelial cells in experimental aging nephropathy.American journal of physiology. Renal physiology · 2012Article
- Progress in pathogenesis of proteinuria.International journal of nephrology · 2012Article
- Glomerular proteinuria: a complex interplay between unique players.Advances in chronic kidney disease · 2011Review
- Molecular and genetic basis of inherited nephrotic syndrome.International journal of nephrology · 2011Article
- A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis.Clinical journal of the American Society of Nephrology : CJASN · 2010Article
- Nephrin deficiency activates NF-kappaB and promotes glomerular injury.Journal of the American Society of Nephrology : JASN · 2009Article
- Advances in the biology and genetics of the podocytopathies: implications for diagnosis and therapy.Archives of pathology & laboratory medicine · 2009Article
- Ectopic notch activation in developing podocytes causes glomerulosclerosis.Journal of the American Society of Nephrology : JASN · 2008Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Denys-Drash syndrome is a rare disorder of urogenital development characterized by the association of early onset glomerulopathy caused by diffuse mesangial sclerosis, gonadal dysgenesis leading to pseudohermaphroditism in males, and a high risk of developing Wilms' tumor. The syndrome is caused by dominant negative point mutations in the WT1 gene that encodes a tumor suppressor transcription factor normally expressed in podocytes. Mutations usually affect the zinc fingers of the WT1 protein. The basic defect is unknown in most cases of isolated diffuse mesangial sclerosis, a disease characterized by the same glomerular changes as in Denys-Drash syndrome but possibly transmitted as an autosomal recessive trait. Here we show that the distribution of WT1 is abnormal in most patients with Denys-Drash syndrome : WT1 nuclear staining of podocytes is decreased or absent. This finding is consistent with the decreased DNA binding capacity of the mutated protein. One target gene of WT1 is PAX2, the expression of which is down-regulated in podocytes during early stages of nephrogenesis. We demonstrate that WT1 mislocalization is associated with abnormal podocyte expression of PAX2 protein and RNA. We suggest that persistent expression of PAX2 is likely to result from the loss of WT1 dependent transcriptional repression and may participate in the pathological mechanisms leading to glomerular dysfunction. Abnormal distribution of WT1 and PAX2 was also observed in isolated diffuse mesangial sclerosis suggesting that a defect in WT1 could also be operative in isolated diffuse mesangial sclerosis. Primary involvement of PAX2 is an alternative hypothesis because persistent expression of PAX2 in transgenic mice is associated with the occurrence of early and severe glomerulopathy.
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