ArticleKidney international reports2020
Trimerization and Genotype-Phenotype Correlation of
Article in Kidney international reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 30 citations in OpenAlex.
- 'Missing' disease-causing variants in Alport syndrome.Nature reviews. Nephrology · 2026Review
- A NovelGenes · 2026Article
- Clinical features of hearing loss and genotype-phenotype correlations in Alport syndrome caused by COL4A4 or COL4A5 variants.Scientific reports · 2025Article
- A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome.Frontiers in genetics · 2025Article
- Genetic study of Alport syndrome in Tunisia.Pediatric nephrology (Berlin, Germany) · 2025Article
- Trimerization profile of type IV collagen COL4A5 exon deletion in X-linked Alport syndrome.Clinical and experimental nephrology · 2024Article
- The NM_033380.2 transcript of theFrontiers in genetics · 2024Article
- Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome.BMC medical genomics · 2023Article
- Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea.Scientific reports · 2023Article
- Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis.Scientific reports · 2023Article
- Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A ofFrontiers in genetics · 2023Article
- Genotype-Phenotype Correlations for PathogenicFrontiers in medicine · 2022Review
- Last Nucleotide Substitutions ofKidney international reports · 2022Article
- Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome.Kidney research and clinical practice · 2020Review
- Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.Kidney medicineArticle
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionAlport syndrome is a hereditary glomerulonephritis that results from the disruption of collagen α345(IV) heterotrimerization caused by mutation in
methodsWe selected 9 α5(IV) missense mutants with typical glycine substitutions that clinically differed in disease progression. To quantify the trimerization of each mutant, split nanoluciferase-fused α3/α5 mutants and α4 were transfected into the cells, and intracellular and secreted heterotrimer were detected by luminescence using an assay that we developed previously.
resultsTrimer formation and secretion patterns tended to be similar to the wild type in most of the mutations that did not show proteinuria at a young age. On the other hand, trimer secretion was significantly reduced in all the mutations that showed proteinuria and early onset of renal failure. One of these mutants has low ability of intracellular trimer formation, and the others had the defect of low-level secretion. In addition, the mutant that is assumed to be nonpathogenic has similar trimer formation and secretion pattern as wild-type α5(IV).
conclusionThe result of cell-based α345(IV) heterotrimer formation assay was largely correlated with clinical genotype-phenotype. These trimerization assessments provide additional phenotypic considerations and may help to distinguish between pathogenic and nonpathogenic mutations.
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