ArticleMatrix biology plus2021
A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome.
Article in Matrix biology plus, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney.Kidney international reports · 2026Article
- Genotype-Based Molecular Mechanisms in Alport Syndrome.Journal of the American Society of Nephrology : JASN · 2025Review
- Characterization of the Ocular Phenotype in a Col4a3 Knockout Mouse Model of Alport Syndrome.Investigative ophthalmology & visual science · 2024Article
- Tauroursodeoxycholic acid ameliorates renal injury induced by COL4A3 mutation.Kidney international · 2024Article
- A Comparative Presentation of Mouse Models That Recapitulate Most Features of Alport Syndrome.Genes · 2022Review
- Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Alport Syndrome: A Primer for Clinicians.International journal of molecular sciences · 2021Review
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Authors and funding
15 authors at 7 institutions in 5 countries.
Funding
Abstract
Alport syndrome (AS) is a severe inherited glomerulopathy caused by mutations in the genes encoding the α-chains of type-IV collagen, the most abundant component of the extracellular glomerular basement membrane (GBM). Currently most AS mouse models are knockout models for one of the collagen-IV genes. In contrast, about half of AS patients have missense mutations, with single aminoacid substitutions of glycine being the most common. The only mouse model for AS with a homozygous knockin missense mutation, Col4a3-p.Gly1332Glu, was partly described before by our group. Here, a detailed in-depth description of the same mouse is presented, along with another compound heterozygous mouse that carries the glycine substitution
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