Associated Papers
Exome-Wide Analysis Identifies a Rare EXD3 Missense Variant Associated With Diabetic Kidney Disease.
Sandholm N et al.
Kidney International Reports, 2026
Genetics of Keratoconus: A Comprehensive Review.
Barcelo-Canton RH et al.
Genes, 2025
Collagen formation, function and role in kidney disease.
De Gregorio V et al.
Nature Reviews. Nephrology, 2025
Investigation of missense mutation-related type 1 diabetes mellitus through integrating genomic databases and bioinformatic approach.
Pakha DN et al.
Genomics & Informatics, 2024
A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome.
Yavas C et al.
Molecular Syndromology, 2024
Protective and pathogenic role of collagen subtypes genes COL4A3 and COL4A4 polymorphisms in the onset of keratoconus in South-Asian Pakistani cohort.
Khashim Alswailmi F et al.
Saudi Journal of Biological Sciences, 2023
Genetic and epigenetic background of diabetic kidney disease.
Sandholm N et al.
Frontiers in Endocrinology, 2023
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Association of Collagen Gene (COL4A3) rs55703767 Variant With Response to Riboflavin/Ultraviolet A-Induced Collagen Cross-Linking in Female Patients With Keratoconus.
Abdelghany AA et al.
Cornea, 2021
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
Hypothesis as to How a Common Missense Mutation in COL4A3 May Confer Protection against Diabetic Kidney Disease.
Pieri M
Journal of the American Society of Nephrology : Jasn, 2020
Role of extracellular matrix remodelling gene SNPs in keratoconus.
Abdullah OA et al.
British Journal of Biomedical Science, 2020
Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen.
Salem RM et al.
Journal of the American Society of Nephrology : Jasn, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Molecular Analysis of Goodpasture's Disease Following Hematopoietic Stem Cell Transplant in a Pediatric Patient, Recalls the Conformeropathy of Wild-Type Anti-GBM Disease.
Gray PE et al.
Frontiers in Immunology, 2019
Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.
Papazachariou L et al.
Clinical Genetics, 2017
Correlation between the COL4A3, MMP-9, and TIMP-1 polymorphisms and risk of keratoconus.
Saravani R et al.
Japanese Journal of Ophthalmology, 2017
A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers.
Rosado C et al.
European Journal of Medical Genetics, 2015
Polymorphism analysis of COL4A3 and COL4A4 genes in Greek patients with keratoconus.
Kokolakis NS et al.
Ophthalmic Genetics, 2014
Genetics of keratoconus: where do we stand?
Abu-Amero KK et al.
Journal of Ophthalmology, 2014
Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.
Papazachariou L et al.
Plos One, 2014
Genetic and genomic perspective to understand the molecular pathogenesis of keratoconus.
Jeyabalan N et al.
Indian Journal of Ophthalmology, 2013
Insights into keratoconus from a genetic perspective.
Burdon KP et al.
Clinical & Experimental Optometry, 2013
Advances in Alport syndrome diagnosis using next-generation sequencing.
Artuso R et al.
European Journal of Human Genetics : Ejhg, 2012
Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population.
Rodriguez-Flores JL et al.
Plos One, 2012
Novel heterozygous COL4A3 mutation in a family with late-onset ESRD.
Hoefele J et al.
Pediatric Nephrology (berlin, Germany), 2010
Genetics and clinical characteristics of keratoconus.
Stabuc-Silih M et al.
Acta Dermatovenerologica Alpina, Pannonica, Et Adriatica, 2010
Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.
Stabuc-Silih M et al.
Molecular Vision, 2009
Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.
Slajpah M et al.
Kidney International, 2007
COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN).
Wang YY et al.
Kidney International, 2004
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
Longo I et al.
Kidney International, 2002
Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.
Badenas C et al.
Journal of the American Society of Nephrology : Jasn, 2002
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.
Heidet L et al.
Journal of the American Society of Nephrology : Jasn, 2001
Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.
Shulman C et al.
Kidney Medicine, 0