ArticleJournal of the American Society of Nephrology : JASN2021
Uncovering Modifier Genes of X-Linked Alport Syndrome Using a Novel Multiparent Mouse Model.
Article in Journal of the American Society of Nephrology : JASN, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 22 citations in OpenAlex.
- Distinct genetic architecture of gene and isoform level QTL in the Diversity Outbred (DO) mouse population.bioRxiv : the preprint server for biology · 2026Article
- Disheveled associated activator of morphogenesis 2 variants may produce alport-like changes: a case report.Molecular cytogenetics · 2026Article
- Fifteen years of the Diversity Outbred mouse model: a review.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Article
- Candidate Genetic Modifiers in Alport Syndrome: A Case Series.Life (Basel, Switzerland) · 2025Article
- Genetic diagnosis of Alport syndrome in 16 Chinese families.Molecular genetics & genomic medicine · 2024Article
- Clinical profile and molecular genetic analysis of alport syndrome in children: a single center experience.Frontiers in pediatrics · 2024Article
- Review
- Recent Advances in Proteinuric Kidney Disease/Nephrotic Syndrome: Lessons from Knockout/Transgenic Mouse Models.Biomedicines · 2023Review
- Variation in histone configurations correlates with gene expression across nine inbred strains of mice.Genome research · 2023Article
- Mitochondrial and NAD+ metabolism predict recovery from acute kidney injury in a diverse mouse population.JCI insight · 2023Article
- Case report: A case report of Alport syndrome caused by a novel mutation ofFrontiers in genetics · 2023Article
- Article
- A Comparative Presentation of Mouse Models That Recapitulate Most Features of Alport Syndrome.Genes · 2022Review
- Tensin 2-deficient nephropathy: mechanosensitive nephropathy, genetic susceptibility.Experimental animals · 2022Review
- The impact of genetic background on mouse models of kidney disease.Kidney international · 2022Review
- Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.Frontiers in medicine · 2022Article
- Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Alport Syndrome: A Primer for Clinicians.International journal of molecular sciences · 2021Review
- Formins in Human Disease.Cells · 2021Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundMutations in
methodsWe created a cohort of genetically diverse XLAS male and female mice using the Diversity Outbred mouse resource and measured albuminuria, GFR, and gene expression. Using a quantitative trait locus approach, we mapped modifier genes that can best explain the underlying phenotypic variation measured in our diverse population.
resultsGenetic analysis identified several loci associated with the variation in albuminuria and GFR, including a locus on the X chromosome associated with X inactivation and a locus on chromosome 2 containing
conclusionWith this novel approach, we emulated the variability in the severity of kidney phenotypes found in human patients with Alport Syndrome through albuminuria and GFR measurements. This approach can identify modifier genes in kidney disease that can be used as novel therapeutic targets.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.