Associated Papers
Chemical chaperone 4-phenylbutyrate treatment alleviates the kidney phenotype in a mouse model of Alport syndrome with a pathogenic variant in Col4a3.
Ioannou P et al.
Kidney International, 2025
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Association of PLCE1 (rs7922612) and COL4A3 (rs375290088) Genetic Variants with the Risk of Nephrotic Syndrome in Egyptian Pediatric Patients.
Mokhtar WA et al.
Biochemical Genetics, 2025
Kidney Cysts in Children With Alport Syndrome: A Report of 3 Cases.
Chang YW et al.
Kidney Medicine, 2024
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
Deltas C et al.
Genes, 2023
A Comparative Presentation of Mouse Models That Recapitulate Most Features of Alport Syndrome.
Nikolaou S et al.
Genes, 2022
Mutation Analysis of Thin Basement Membrane Nephropathy.
Hirabayashi Y et al.
Genes, 2022
A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome.
Odiatis C et al.
Matrix Biology Plus, 2021
Lack of collagen α6(IV) chain in mice does not cause severe-to-profound hearing loss or cochlear malformation, a distinct phenotype from nonsyndromic hearing loss with COL4A6 missense mutation.
Tang S et al.
Plos One, 2021
Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review.
Matthaiou A et al.
Clinical Kidney Journal, 2020
Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.
Park SJ et al.
Pediatric Nephrology (berlin, Germany), 2019
Endoplasmic reticulum stress and proteasome pathway involvement in human podocyte injury with a truncated COL4A3 mutation.
Zhang HD et al.
Chinese Medical Journal, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.
Voskarides K et al.
Plos One, 2017
Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.
Stefanou C et al.
Nephron, 2015
Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.
Deltas C et al.
Nephron, 2015
The 2014International Workshop on Alport Syndrome.
Miner JH et al.
Kidney International, 2014
Evidence for activation of the unfolded protein response in collagen IV nephropathies.
Pieri M et al.
Journal of the American Society of Nephrology : Jasn, 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
Molecular genetics of familial hematuric diseases.
Deltas C et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013
Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria.
Voskarides K et al.
Pediatric Nephrology (berlin, Germany), 2012
X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.
Demosthenous P et al.
Clinical Genetics, 2012
A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy.
Papagregoriou G et al.
Plos One, 2012
Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.
Elia A et al.
Nephron. Clinical Practice, 2011
Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis.
Pierides A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009
COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century.
Voskarides K et al.
Genetic Testing, 2008
COL4A3/COL4A4 mutations link familial hematuria and focal segmental glomerulosclerosis. glomerular epithelium destruction via basement membrane thinning?
Voskarides K et al.
Connective Tissue Research, 2008
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
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