Associated Papers
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
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
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
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 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
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
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
New Mutation of Coenzyme Q10 Monooxygenase 6 Causing Podocyte Injury in a Focal Segmental Glomerulosclerosis Patient.
Song CC et al.
Chinese Medical Journal, 2018
Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.
Papazachariou L et al.
Clinical Genetics, 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
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
Advances in Alport syndrome diagnosis using next-generation sequencing.
Artuso R et al.
European Journal of Human Genetics : Ejhg, 2012
Novel heterozygous COL4A3 mutation in a family with late-onset ESRD.
Hoefele J et al.
Pediatric Nephrology (berlin, Germany), 2010
Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.
Stabuc-Silih M et al.
Molecular Vision, 2009
Novel corneal phenotype in a patient with alport syndrome.
Bower KS et al.
Cornea, 2009
COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.
Voskarides K et al.
Journal of the American Society of Nephrology : Jasn, 2007
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/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
Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.
Shulman C et al.
Kidney Medicine, 0