Associated Papers
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 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
Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.
Rajeh A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
In Silico Analysis of Collagens Missense SNPs and Human Abnormalities.
Kalmari A et al.
Biochemical Genetics, 2022
Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.
Zhang Y et al.
Pediatric Nephrology (berlin, Germany), 2021
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families.
Zhang Y et al.
European Journal of Human Genetics : Ejhg, 2020
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
Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.
Papazachariou L et al.
Clinical Genetics, 2017
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
Bakhchane A et al.
Plos One, 2017
Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.
Kovács G et al.
Plos One, 2016
[Comparison of phenotypic features between patients with X-linked and autosomal recessive Alport syndrome].
Wang F et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 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
Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome.
Zhang Y et al.
American Journal of Medical Genetics. Part A, 2012
Advances in Alport syndrome diagnosis using next-generation sequencing.
Artuso R et al.
European Journal of Human Genetics : Ejhg, 2012
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
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