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239 related items for PubMed ID: 36714647

  • 1. A deep intronic splice variant of the COL4A5 gene in a Chinese family with X-linked Alport syndrome.
    Qian P, Bao Y, Huang HM, Suo L, Han Y, Li ZJ, Zhang M.
    Front Pediatr; 2022; 10():1009188. PubMed ID: 36714647
    [Abstract] [Full Text] [Related]

  • 2. Aberrant Splicing of COL4A5 Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series.
    Li Y, Yan X, Luo Z, Fu X, Li Z, Xu Q, Chen J, Yang J, Lu D.
    Int J Nephrol Renovasc Dis; 2024; 17():167-174. PubMed ID: 38855711
    [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
    [Abstract] [Full Text] [Related]

  • 4. 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 18; 16(1):192. PubMed ID: 37596645
    [Abstract] [Full Text] [Related]

  • 5. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 18; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 6. Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome.
    Liang L, Wu H, Cai Z, Zhao J.
    Front Genet; 2023 Aug 18; 14():1059322. PubMed ID: 36923787
    [Abstract] [Full Text] [Related]

  • 7. The NM_033380.2 transcript of the COL4A5 gene contains a variable splice site c.4822-10T>C, which has been identified as a causative factor for Alport syndrome.
    Liang L, Wu H, Zhao J.
    Front Genet; 2024 Aug 18; 15():1330525. PubMed ID: 38818038
    [Abstract] [Full Text] [Related]

  • 8. 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 07; 9(11):1958-64. PubMed ID: 25183659
    [Abstract] [Full Text] [Related]

  • 9. Identification of Four Novel COL4A5 Variants and Detection of Splicing Abnormalities in Three Chinese X-Linked Alport Syndrome Families.
    Wang S, Shao Y, Wang Y, Lu J, Shao L.
    Front Genet; 2022 Nov 07; 13():847777. PubMed ID: 35368650
    [Abstract] [Full Text] [Related]

  • 10. Functional assessment of a novel COL4A5 splicing site variant in a Chinese X-linked Alport syndrome family.
    Chen X, Ye N, Zhang L, Zheng W, Cheng J, Gong M.
    Ann Transl Med; 2021 Sep 07; 9(18):1420. PubMed ID: 34733972
    [Abstract] [Full Text] [Related]

  • 11. 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 26; 17(1):108. PubMed ID: 38671472
    [Abstract] [Full Text] [Related]

  • 12. The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome.
    Yamamura T, Horinouchi T, Aoto Y, Lennon R, Nozu K.
    Front Med (Lausanne); 2022 Apr 26; 9():841391. PubMed ID: 35211492
    [Abstract] [Full Text] [Related]

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  • 14. 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 Apr 26; 19(10):758-765. PubMed ID: 31490752
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  • 17. [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 10; 40(10):1263-1269. PubMed ID: 37730228
    [Abstract] [Full Text] [Related]

  • 18. [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 10; 38(5):461-464. PubMed ID: 33974256
    [Abstract] [Full Text] [Related]

  • 19. Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.
    Wang F, Wang Y, Ding J, Yang J.
    Kidney Int; 2005 Apr 10; 67(4):1268-74. PubMed ID: 15780079
    [Abstract] [Full Text] [Related]

  • 20. 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.
    Mol Genet Genomic Med; 2020 Aug 10; 8(8):e1342. PubMed ID: 32543079
    [Abstract] [Full Text] [Related]

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