ArticleJournal of the American Society of Nephrology : JASN2018
Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.
Article in Journal of the American Society of Nephrology : JASN, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 1 of them a synthesis that pooled it.
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Who cites it
51 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Kidney biopsy guidebook 2020 in Japan.Clinical and experimental nephrology · 2021Guideline
- Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome.Molecular genetics & genomic medicine · 2019Trial
- New therapeutic hope for rare podocytopathies.Pediatric nephrology (Berlin, Germany) · 2026Article
- Genetic Screening of Patients With Inherited Fanconi Syndrome.Kidney international reports · 2026Article
- Knowledge Mapping of Alport Syndrome: A Bibliometric Analysis From 2000 to 2025.Molecular genetics & genomic medicine · 2026Review
- 'Missing' disease-causing variants in Alport syndrome.Nature reviews. Nephrology · 2026Review
- Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.Nature communications · 2026Article
- Multifactorial Predictors of Renal Outcomes in Alport Syndrome: Integrating Genetic, Clinical, and Cystic Phenotypes.Kidney medicine · 2026Article
- Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndrome.JCI insight · 2026Article
- Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome.CEN case reports · 2026Article
- Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome.Frontiers in medicine · 2026Article
- Identification and pathogenicity analysis of a novel intronicFrontiers in medicine · 2026Article
- Age at disease onset and risk of chronic kidney disease in patients with heterozygous disease-causing variants inClinical kidney journal · 2025Article
- Novel COL4A3-COL4A5 variants and digenic inheritance in pediatric Alport syndrome from Southwestern China.Scientific reports · 2025Article
- Differences in kidney prognosis between congenital and infantile nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2025Article
- Article
- Trichostatin A suppresses hearing loss by reducing oxidative stress and inflammation in an Alport syndrome model.PloS one · 2025Article
- Case Report: Evaluation ofFrontiers in medicine · 2025Article
- Trimerization profile of type IV collagen COL4A5 exon deletion in X-linked Alport syndrome.Clinical and experimental nephrology · 2024Article
- Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.The Journal of clinical endocrinology and metabolism · 2024Article
Corrections and comments
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Authors and funding
30 authors at 19 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundX-linked Alport syndrome (XLAS) is a progressive hereditary nephropathy caused by mutations in the
methodsWe examined transcript expression for all patients with suspected splicing abnormalities who were treated at one hospital between January of 2006 and July of 2017. Additionally, we recruited 46 males from 29 families with splicing abnormalities to examine genotype-phenotype correlation in patients with truncating (
resultsWe detected 41 XLAS families with abnormal splicing patterns and described novel XLAS atypical splicing patterns (
conclusionsWe report unpredictable atypical splicing in the
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