| Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome. | 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 | 08/2/2024 |
| A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family. | A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family.
Chen S, Xu G, Zhao Z, Du J, Shen B, Li C., Free PMC Article | 06/30/2024 |
| Genetic diagnosis of Alport syndrome in 16 Chinese families. | Genetic diagnosis of Alport syndrome in 16 Chinese families.
Xiao T, Zhang J, Liu L, Zhang B., Free PMC Article | 04/8/2024 |
| Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay. | 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 | 02/29/2024 |
| [Genetic testing and prenatal diagnosis for two Chinese pedigrees affected with Alport syndrome due to variants of COL4A5 gene]. | [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. | 12/5/2023 |
| Collagen Type IV Alpha 5 Chain in Bronchiolitis Obliterans Syndrome After Lung Transplant: The First Evidence. | 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 | 08/30/2023 |
| Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome. | 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 | 08/28/2023 |
| Type IV collagen alpha5 chain promotes luminal breast cancer progression through c-Myc-driven glycolysis. | 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 | 04/7/2023 |
| Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene. | 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 | 02/28/2023 |
| Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients. | 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 | 02/4/2023 |
| Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study. | 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. | 12/3/2022 |
| 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. | 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. | 12/3/2022 |
| Pathogenicity of missense variants affecting the collagen IV alpha5 carboxy non-collagenous domain in X-linked Alport syndrome. | 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 | 07/16/2022 |
| Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome. | 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 | 03/26/2022 |
| Guidelines for Genetic Testing and Management of Alport Syndrome. | 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 | 03/19/2022 |
| New COL4A5 mutation in IgA nephropathy. | New COL4A5 mutation in IgA nephropathy.
Xu Z, Chen J, Yu W, Li X, Lin B, Lai D, Xu A, Tang Y. | 12/25/2021 |
| Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome. | 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 | 11/13/2021 |
| A COL4A5 Missense Variant in a Han-Chinese Family with X-linked Alport Syndrome. | 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. | 11/13/2021 |
| Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial. | 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. | 10/2/2021 |
| 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. | 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. | 07/17/2021 |
| Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndrome. | 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 | 06/5/2021 |
| Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review. | 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 | 05/29/2021 |
| [Genetic and clinical analysis of a pedigree affected with X-linked dominant Alport syndrome due to a novel variant of COL4A5 gene]. | [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. | 05/22/2021 |
| Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay. | 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 | 05/15/2021 |
| Bidirectional, non-necrotizing glomerular crescents are the critical pathology in X-linked Alport syndrome mouse model harboring nonsense mutation of human COL4A5. | 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 | 03/13/2021 |