ArticleKidney international reports2022
Last Nucleotide Substitutions of
Article in Kidney international reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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Who cites it
26 citing papers in PubMed, 33 citations in OpenAlex.
- RNA splicing in health and disease.Molecular biomedicine · 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
- 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
- Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.BMC genomics · 2025Article
- Impact of Age-3 Urine Screening on Diagnosis and Treatment Timing in Alport Syndrome.Kidney international reports · 2025Article
- Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants.Molecular and cellular pediatrics · 2025Article
- Potential involvement of abnormal splicing in severe WT1-related disorders.Clinical and experimental nephrology · 2025Article
- Identifying six single nucleotide variants in the COL17A1 gene that alter RNA splicing: database analysis and minigene assays.Scientific reports · 2025Article
- Data-driven insights to inform splice-altering variant assessment.American journal of human genetics · 2025Article
- Article
- A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome.Frontiers in genetics · 2025Article
- Evaluation of pathogenicity of WT1 intron variants by in vitro splicing analysis.Clinical and experimental nephrology · 2024Article
- Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report.Molecular genetics & genomic medicine · 2024Article
- Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.Metabolic brain disease · 2024Article
- Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.Molecular genetics & genomic medicine · 2024Article
- All reported non-canonical splice site variants in GLA cause aberrant splicing.Clinical and experimental nephrology · 2023Article
- Abnormal mRNA Splicing Effect ofKidney international reports · 2023Article
- Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene.Clinical and experimental nephrology · 2023Article
- Case report: A case report of Alport syndrome caused by a novel mutation ofFrontiers in genetics · 2023Article
Corrections and comments
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Authors and funding
17 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introduction
methodsIn total, 20 variants were found in the Human Gene Mutation Database (
resultsAmong the 20 variants, 17 (85%) caused aberrant splicing. Male patients with splicing variants had more severe phenotypes when compared with those with missense variants. Findings from the
conclusionOur study revealed that most single-base substitutions at the last nucleotide position of
Indexed as
Identifiers
What OpenQuestion holds
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 OpenQuestion graph.