Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome.
Wang D, Pan M, Li H, Li M, Li P, Xiong F, Xiao H., Free PMC Article

Genetic diagnosis of Alport syndrome in 16 Chinese families.
Xiao T, Zhang J, Liu L, Zhang B., Free PMC Article

Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports.
Gao X, Li M, Wang K, Li Z, Han C., Free PMC Article

Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?
Riedhammer KM, Simmendinger H, Tasic V, Putnik J, Abazi-Emini N, Stajic N, Berutti R, Weidenbusch M, Patzer L, Lungu A, Milosevski-Lomic G, Günthner R, Braunisch MC, Ćomić J, Hoefele J.

Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients.
Yuan X, Su Q, Wang H, Shi S, Liu L, Lv J, Wang S, Zhu L, Zhang H., Free PMC Article

Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population.
Horaček M, Nikuševa Martić T, Šenjug P, Šenjug Perica M, Oroz M, Kuzmac S, Klarić D, Glavina Durdov M, Saraga M, Milošević D, Batinić D, Ćorić M, Paić F, Galešić Ljubanović D., Free PMC Article

Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood.
Alge JL, Bekheirnia N, Willcockson AR, Qin X, Scherer SE, Braun MC, Bekheirnia MR.

Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?
Mastrangelo A, Madeira C, Castorina P, Giani M, Montini G.

Association between COL4A3 variant rs55703767 and susceptibility to diabetic kidney disease in patients with type 2 diabetes mellitus: results from the INDEED cohort study.
Li Z, Sun Z, Chang D, Zhu L, Chen M, Zhao M., Free PMC Article

Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.
Mohamed M, Tellez J, Bergmann C, Gale DP, Sayer JA, Olinger E.

Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.
AitRaise I, Amalou G, Bousfiha A, Charoute H, Rouba H, Abdelghaffar H, Bonnet C, Petit C, Barakat A.

Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome.
Horinouchi T, Yamamura T, Nagano C, Sakakibara N, Ishiko S, Aoto Y, Rossanti R, Nakanishi K, Shima Y, Morisada N, Iijima K, Nozu K., Free PMC Article

Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
Gibson JT, Huang M, Shenelli Croos Dabrera M, Shukla K, Rothe H, Hilbert P, Deltas C, Storey H, Lipska-Ziętkiewicz BS, Chan MMY, Sadeghi-Alavijeh O, Gale DP, Genomics England Research Consortium, Cerkauskaite A, Savige J., Free PMC Article

Guidelines for Genetic Testing and Management of Alport Syndrome.
Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F., Free PMC Article

NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation.
Sun L, Zhang X, Wang Z., Free PMC Article

Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients.
Ammar S, Kanoun H, Kammoun K, Domingo-Gallego A, Ruiz P, Lorente-Grandoso L, Pybus M, Maalej B, Boudawara T, Kamoun H, Ben Hmida M, Ars E, Jarraya F.

Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.
Gibson J, Fieldhouse R, Chan MMY, Sadeghi-Alavijeh O, Burnett L, Izzi V, Persikov AV, Gale DP, Storey H, Savige J, Genomics England Research Consortium., Free PMC Article

Association of Collagen Gene (COL4A3) rs55703767 Variant With Response to Riboflavin/Ultraviolet A-Induced Collagen Cross-Linking in Female Patients With Keratoconus.
Abdelghany AA, Toraih EA, Abdelaziz EZ, El-Sherbeeny NA, Fawzy MS.

Generation and characterization of an integration-free iPSC line SDUBMSi006-A from a patient with Alport syndrome caused by COL4A3 gene mutations.
Ma Y, Wang Z, Liu X, Sun W, Gong Y, Liu G, Sun G.

Prognostic significance of abnormal matrix collagen remodeling in colorectal cancer based on histologic and bioinformatics analysis.
Liang Y, Lv Z, Huang G, Qin J, Li H, Nong F, Wen B., Free PMC Article

How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists.
Imafuku A, Nozu K, Sawa N, Nakanishi K, Ubara Y., Free PMC Article

COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndrome.
Ozdemir G, Gulhan B, Atayar E, Saygılı S, Soylemezoglu O, Ozcakar ZB, Eroglu FK, Candan C, Demir BK, Soylu A, Yüksel S, Alpay H, Agbas A, Duzova A, Hayran M, Ozaltin F, Topaloglu R.

Thrombosis risk of Alport syndrome patients: evaluation of cardiological, clinical, biochemical, genetic and possible causes of inherited thrombophilia and identification of a novel COL4A3 variant.
Eroz R, Damar İH, Kılıçaslan O.

Role of extracellular matrix remodelling gene SNPs in keratoconus.
Abdullah OA, El Gazzar WB, Salem TI, Al-Kamil EA.

Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.
Yao T, Udwan K, John R, Rana A, Haghighi A, Xu L, Hack S, Reich HN, Hladunewich MA, Cattran DC, Paterson AD, Pei Y, Barua M., Free PMC Article