ArticlePloS one2014
Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed.
- Unanswered Questions About Microscopic Hematuria With Tubulopathy.Kidney international reports · 2026Article
- Sequential emergence of hematuria and proteinuria in autosomal dominant Alport syndrome: a pathophysiological perspective.European journal of pediatrics · 2026Review
- Principles for Optimal Drug Selection in IgA Nephropathy-Time for Integrating Pathogenesis and Clinical Markers to Guide Therapy.Nephrology (Carlton, Vic.) · 2026Review
- Minnelide ameliorates Col4a5+/- mice by upregulating Col4a5 and alleviating endoplasmic reticulum stress.Frontiers in pharmacology · 2026Article
- Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology.Pediatric nephrology (Berlin, Germany) · 2025Review
- Importance of family history and health checkup for school-aged children for type IV collagen-associated nephropathy in hereditary kidney disease.Journal of nephrology · 2025Observational
- Association of PLCE1 (rs7922612) and COL4A3 (rs375290088) Genetic Variants with the Risk of Nephrotic Syndrome in Egyptian Pediatric Patients.Biochemical genetics · 2025Article
- Endoplasmic reticulum stress as a driver and therapeutic target for kidney disease.Nature reviews. Nephrology · 2025Review
- Noninvasive genetic testing for type IV collagen nephropathy using oral mucosa DNA sampling in children with haematuria.Renal failure · 2024Article
- Tauroursodeoxycholic acid ameliorates renal injury induced by COL4A3 mutation.Kidney international · 2024Article
- Article
- COL4A3 Mutation Induced Podocyte Apoptosis by Dysregulation of NADPH Oxidase 4 and MMP-2.Kidney international reports · 2023Article
- Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population.Biomolecules & biomedicine · 2023Article
- Article
- New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3.Journal of clinical medicine · 2022Article
- Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy.The Journal of clinical investigation · 2022Article
- Strong mesangial IgA staining-does it always refer to IgA nephropathy in a patient with proteinuria and hematuria? Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- Self-Assembled Peptide-Based Biocomposites for Near-Infrared Light Triggered Drug Release to Tumor Cells.Biotechnology journal · 2020Article
- A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease.Molecular genetics & genomic medicine · 2020Article
- Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused byClinical kidney journal · 2020Article
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Authors and funding
31 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families presenting glomerular microscopic hematuria (GMH), with or without proteinuria or chronic kidney function decline, but excluded classical AS. We specifically searched the COL4A3/A4 genes and identified 8 heterozygous mutations in 16 families (28,1%). Eight non-related families featured the founder mutation COL4A3-p.(G1334E). Renal biopsies from 8 patients showed TBMN and focal segmental glomerulosclerosis (FSGS). Ten patients (11.5%) reached end-stage kidney disease (ESKD) at ages ranging from 37-69-yo (mean 50,1-yo). Next generation sequencing of the patients who progressed to ESKD failed to reveal a second mutation in any of the COL4A3/A4/A5 genes, supporting that true heterozygosity for COL4A3/A4 mutations predisposes to CRF/ESKD. Although this could be viewed as a milder and late-onset form of autosomal dominant AS, we had no evidence of ultrastructural features or extrarenal manifestations that would justify this diagnosis. Functional studies in cultured podocytes transfected with wild type or mutant COL4A3 chains showed retention of mutant collagens and differential activation of the unfolded protein response (UPR) cascade. This signifies the potential role of the UPR cascade in modulating the final phenotype in patients with collagen IV nephropathies.
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