Associated Papers
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Giovanella S et al.
Clinical Genetics, 2026
Impact of Age-3 Urine Screening on Diagnosis and Treatment Timing in Alport Syndrome.
Kitakado H et al.
Kidney International Reports, 2025
Phenotype-genotype correlations in patients with Alport syndrome from the Polish population.
Malarska M et al.
Journal of Nephrology, 2025
Characterization of Monogenic Kidney Disease in Older Patients With CKD.
Elhassan EAE et al.
Kidney International Reports, 2025
A Prediction Model of Disease Progression in X-Linked Alport syndrome Based on Clinical Characteristics and Genetic Variants.
Zeng M et al.
Kidney International Reports, 2025
COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype.
Krüger BM et al.
Kidney International Reports, 2025
A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome.
Li H et al.
Frontiers in Genetics, 2025
Trimerization profile of type IV collagen COL4A5 exon deletion in X-linked Alport syndrome.
Koyama Y et al.
Clinical and Experimental Nephrology, 2024
Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome.
Wang D et al.
Bmc Medical Genomics, 2024
Genotype-Phenotype Correlations in Alport Syndrome-A Single-Center Experience.
Lujinschi ȘN et al.
Genes, 2024
A Drosophila model to screen Alport syndrome COL4A5 variants for their functional pathogenicity.
Duan J et al.
Biorxiv : the Preprint Server for Biology, 2024
Genetic, Clinical, and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study.
Juan-Juan D et al.
Global Pediatric Health, 2024
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
Deltas C et al.
Genes, 2023
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood.
Alge JL et al.
Pediatric Nephrology (berlin, Germany), 2023
NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough.
Omachi K et al.
Iscience, 2022
Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases.
Gao M et al.
Frontiers in Genetics, 2022
An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism.
Lee SJ et al.
Annals of Pediatric Endocrinology & Metabolism, 2020
Trimerization and Genotype-Phenotype Correlation of COL4A5 Mutants in Alport Syndrome.
Kamura M et al.
Kidney International Reports, 2020
Utility of Genomic Testing after Renal Biopsy.
Murray SL et al.
American Journal of Nephrology, 2020
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.
Zhang X et al.
Orphanet Journal of Rare Diseases, 2018
A Split-Luciferase-Based Trimer Formation Assay as a High-throughput Screening Platform for Therapeutics in Alport Syndrome.
Omachi K et al.
Cell Chemical Biology, 2018
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.
Mallett AJ et al.
Kidney International, 2017
Alport syndrome: impact of digenic inheritance in patients management.
Fallerini C et al.
Clinical Genetics, 2017
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige J et al.
Plos One, 2016
Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.
Massella L et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
Skin biopsy is a practical approach for the clinical diagnosis and molecular genetic analysis of X-linked Alport's syndrome.
Wang F et al.
The Journal of Molecular Diagnostics : Jmd, 2012
COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9.
Strasser K et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012
Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy.
Ma J et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2011
Detection of mutations in COL4A5 in patients with Alport syndrome.
Plant KE et al.
Human Mutation, 1999
High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.
Martin P et al.
Journal of the American Society of Nephrology : Jasn, 1998
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
Renieri A et al.
American Journal of Human Genetics, 1996
The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.
Kawai S et al.
Kidney International, 1996
Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.
Boye E et al.
Human Mutation, 1995
Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.
Shulman C et al.
Kidney Medicine, 0