156 related articles for article (PubMed ID: 37730228)
1. [Genetic analysis and in vitro validation of a case of Alport syndrome due to a splicing variant of COL4A5 gene].
Liang L; Cai Z; Wu H; Meng H; Zhao J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Oct; 40(10):1263-1269. PubMed ID: 37730228
[TBL] [Abstract][Full Text] [Related]
2. Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome.
Liang L; Wu H; Cai Z; Zhao J
BMC Med Genomics; 2023 Aug; 16(1):192. PubMed ID: 37596645
[TBL] [Abstract][Full Text] [Related]
3. Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.
Malone AF; Funk SD; Alhamad T; Miner JH
Pediatr Nephrol; 2017 Jun; 32(6):997-1003. PubMed ID: 28013382
[TBL] [Abstract][Full Text] [Related]
4. [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
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Aug; 37(8):807-810. PubMed ID: 32761583
[TBL] [Abstract][Full Text] [Related]
5. [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
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Nov; 40(11):1356-1359. PubMed ID: 37906141
[TBL] [Abstract][Full Text] [Related]
6. [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
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 May; 38(5):461-464. PubMed ID: 33974256
[TBL] [Abstract][Full Text] [Related]
7. [Clinical and genetic analysis of a child with X-linked dominant Alport syndrome].
Chang T; Han Z; Liu X; Wang P
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Oct; 40(10):1270-1274. PubMed ID: 37730229
[TBL] [Abstract][Full Text] [Related]
8. Novel Mutations of
Gong WY; Liu FN; Yin LH; Zhang J
Biomed Res Int; 2021; 2021():6664973. PubMed ID: 33748275
[TBL] [Abstract][Full Text] [Related]
9. X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.
Fu XJ; Nozu K; Eguchi A; Nozu Y; Morisada N; Shono A; Taniguchi-Ikeda M; Shima Y; Nakanishi K; Vorechovsky I; Iijima K
Clin Exp Nephrol; 2016 Oct; 20(5):699-702. PubMed ID: 26581810
[TBL] [Abstract][Full Text] [Related]
10. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
11. Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of
Liang L; Wu H; Cai Z; Zhao J
Front Genet; 2023; 14():1059322. PubMed ID: 36923787
[No Abstract] [Full Text] [Related]
12. [Genetic analysis of a patient with Alport syndrome due to compound heterozygous variants of COL4A4 gene].
Yang B; Liu F; Zou L; Xue X; Miao J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Sep; 40(9):1150-1154. PubMed ID: 37643964
[TBL] [Abstract][Full Text] [Related]
13. A deep intronic splice variant of the
Qian P; Bao Y; Huang HM; Suo L; Han Y; Li ZJ; Zhang M
Front Pediatr; 2022; 10():1009188. PubMed ID: 36714647
[TBL] [Abstract][Full Text] [Related]
14. 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
Mol Genet Genomic Med; 2024 Feb; 12(2):e2395. PubMed ID: 38400605
[TBL] [Abstract][Full Text] [Related]
15. A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing.
Chen C; Lu CX; Wang Q; Cao LH; Luo Y; Zhang X
Genet Test Mol Biomarkers; 2016 Apr; 20(4):203-7. PubMed ID: 26866448
[TBL] [Abstract][Full Text] [Related]
16. X-linked Alport syndrome caused by splicing mutations in COL4A5.
Nozu K; Vorechovsky I; Kaito H; Fu XJ; Nakanishi K; Hashimura Y; Hashimoto F; Kamei K; Ito S; Kaku Y; Imasawa T; Ushijima K; Shimizu J; Makita Y; Konomoto T; Yoshikawa N; Iijima K
Clin J Am Soc Nephrol; 2014 Nov; 9(11):1958-64. PubMed ID: 25183659
[TBL] [Abstract][Full Text] [Related]
17. A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family.
Chen S; Xu G; Zhao Z; Du J; Shen B; Li C
BMC Med Genomics; 2024 Apr; 17(1):108. PubMed ID: 38671472
[TBL] [Abstract][Full Text] [Related]
18. 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
Curr Mol Med; 2019; 19(10):758-765. PubMed ID: 31490752
[TBL] [Abstract][Full Text] [Related]
19. A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series.
Wu J; Zhang J; Liu L; Zhang B; Yamamura T; Nozu K; Matsuo M; Zhao J
BMC Nephrol; 2021 Nov; 22(1):380. PubMed ID: 34774011
[TBL] [Abstract][Full Text] [Related]
20. A novel frameshift mutation of COL4A5 in a Chinese family with presumed IgA nephropathy and chronic glomerulonephritis.
Zhu Q; Zhou C; Wang J
J Clin Lab Anal; 2020 Dec; 34(12):e23558. PubMed ID: 32893410
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
