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

Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.
Zhang R, Lang Y, Shi X, Zhang Y, Liu X, Pan F, Qiao D, Teng X, Shao L., Free PMC Article

[Genetic testing and prenatal diagnosis for two Chinese pedigrees affected with Alport syndrome due to variants of COL4A5 gene].
Ma Q, Che L, Kong X.

Collagen Type IV Alpha 5 Chain in Bronchiolitis Obliterans Syndrome After Lung Transplant: The First Evidence.
Armati M, Cattelan S, Guerrieri M, Messina M, Perea B, Genovese M, d'Alessandro M, Gangi S, Cameli P, Perillo F, Bennett D, Fossi A, Tuscany Transplant Group, Bargagli E, Bergantini L., Free PMC Article

Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome.
Liang L, Wu H, Cai Z, Zhao J., Free PMC Article

Type IV collagen α5 chain promotes luminal breast cancer progression through c-Myc-driven glycolysis.
Wu Y, Liu X, Zhu Y, Qiao Y, Gao Y, Chen J, Ge G., Free PMC Article

Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene.
Okada E, Aoto Y, Horinouchi T, Yamamura T, Ichikawa Y, Tanaka Y, Ueda C, Kitakado H, Kondo A, Sakakibara N, Suzuki R, Usui J, Yamagata K, Iijima K, Nozu K., Free PMC Article

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

Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study.
Boeckhaus J, Hoefele J, Riedhammer KM, Nagel M, Beck BB, Choi M, Gollasch M, Bergmann C, Sonntag JE, Troesch V, Stock J, Gross O.

Dissecting the genotype-phenotype correlation of COL4A5 gene mutation and its response to renin-angiotensin-aldosterone system blockers in Chinese male patients with Alport syndrome.
Di H, Zhang J, Gao E, Zheng C, Huang X, Wang Q, Yu X, Liu Z.

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome.
Gibson JT, Sadeghi-Alavijeh O, Gale DP, Rothe H, Genomics England Research Consortium, Savige J., 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

New COL4A5 mutation in IgA nephropathy.
Xu Z, Chen J, Yu W, Li X, Lin B, Lai D, Xu A, Tang Y.

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

A COL4A5 Missense Variant in a Han-Chinese Family with X-linked Alport Syndrome.
Wu Y, Guo Y, Yuan J, Xu H, Chen Y, Zhang H, Yuan M, Deng H, Yuan L.

Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial.
Boeckhaus J, Hoefele J, Riedhammer KM, Tönshoff B, Ehren R, Pape L, Latta K, Fehrenbach H, Lange-Sperandio B, Kettwig M, Hoyer P, Staude H, Konrad M, John U, Gellermann J, Hoppe B, Galiano M, Gessner M, Pohl M, Bergmann C, Friede T, Gross O, GPN Study Group and EARLY PRO-TECT Alport Investigators.

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife.
Żurowska AM, Bielska O, Daca-Roszak P, Jankowski M, Szczepańska M, Roszkowska-Bjanid D, Kuźma-Mroczkowska E, Pańczyk-Tomaszewska M, Moczulska A, Drożdż D, Hadjipanagi D, Deltas C, Ostalska-Nowicka D, Rabiega A, Taraszkiewicz J, Taranta-Janusz K, Wieczorkiewicz-Plaza A, Jobs K, Mews J, Musiał K, Jakubowska A, Nosek H, Jander AE, Koutsofti C, Stanisławska-Sachadyn A, Kuleszo D, Ziętkiewicz E, Lipska-Ziętkiewicz BS.

Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndrome.
Helle OMB, Pedersen TH, Ousager LB, Thomassen M, Hertz JM., Free PMC Article

Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review.
Gong WY, Liu FN, Yin LH, Zhang J., Free PMC Article

[Genetic and clinical analysis of a pedigree affected with X-linked dominant Alport syndrome due to a novel variant of COL4A5 gene].
Ma Q, Wu J, Che L, Kong X.

Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay.
Horinouchi T, Yamamura T, Minamikawa S, Nagano C, Sakakibara N, Nakanishi K, Shima Y, Morisada N, Ishiko S, Aoto Y, Nagase H, Takeda H, Rossanti R, Ishimori S, Kaito H, Matsuo M, Iijima K, Nozu K., Free PMC Article

Bidirectional, non-necrotizing glomerular crescents are the critical pathology in X-linked Alport syndrome mouse model harboring nonsense mutation of human COL4A5.
Song JY, Saga N, Kawanishi K, Hashikami K, Takeyama M, Nagata M., Free PMC Article

Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families.
Zhang Y, Ding J, Wang S, Zhang H, Zhong X, Liu X, Xu K, Wang F., Free PMC Article

[Identification of a novel variant of COL4A5 gene in a pedigree affected with Alport syndrome].
Liu X, Gao M, Zou Y, Wang L, Kang R, Xu P, Niu Y, Huang S, Li J, Xie H, Gao Y.