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Journal Abstract Search

335 related items for PubMed ID: 25183659

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  • 4. 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
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  • 5. Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.
    Horinouchi T, Nozu K, Yamamura T, Minamikawa S, Omori T, Nakanishi K, Fujimura J, Ashida A, Kitamura M, Kawano M, Shimabukuro W, Kitabayashi C, Imafuku A, Tamagaki K, Kamei K, Okamoto K, Fujinaga S, Oka M, Igarashi T, Miyazono A, Sawanobori E, Fujimaru R, Nakanishi K, Shima Y, Matsuo M, Ye MJ, Nozu Y, Morisada N, Kaito H, Iijima K.
    J Am Soc Nephrol; 2018 Aug; 29(8):2244-2254. PubMed ID: 29959198
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  • 6. Comparative Functional Analysis in vitro of 2 COL4A5 Splicing Mutations at the Same Site in 2 Unrelated Alport Syndrome Chinese Families.
    Lv X, Wu WQ, Zhang JX, Miao LF, Yu BZ, Chen FF, Cui YX, Xia ZK, Liu ZH, Li XJ.
    Cytogenet Genome Res; 2020 Aug; 160(5):238-244. PubMed ID: 32659759
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  • 7. 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
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  • 9. Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
    Hertz JM, Juncker I, Persson U, Matthijs G, Schmidtke J, Petersen MB, Kjeldsen M, Gregersen N.
    Hum Mutat; 2001 Aug; 18(2):141-8. PubMed ID: 11462238
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  • 10. Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain.
    Hashimura Y, Nozu K, Kaito H, Nakanishi K, Fu XJ, Ohtsubo H, Hashimoto F, Oka M, Ninchoji T, Ishimori S, Morisada N, Matsunoshita N, Kamiyoshi N, Yoshikawa N, Iijima K.
    Kidney Int; 2014 May; 85(5):1208-13. PubMed ID: 24304881
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  • 13. Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.
    Lemmink HH, Kluijtmans LA, Brunner HG, Schröder CH, Knebelmann B, Jelínková E, van Oost BA, Monnens LA, Smeets HJ.
    Hum Mol Genet; 1994 Feb; 3(2):317-22. PubMed ID: 8004101
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  • 15. 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; 8(8):e1342. PubMed ID: 32543079
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  • 17. A wave of deep intronic mutations in X-linked Alport syndrome.
    Boisson M, Arrondel C, Cagnard N, Morinière V, Arkoub ZA, Saei H, Heidet L, Kachmar J, Hummel A, Knebelmann B, Bonnet-Dupeyron MN, Isidor B, Izzedine H, Legrand E, Couarch P, Gribouval O, Bole-Feysot C, Parisot M, Nitschké P, Antignac C, Dorval G.
    Kidney Int; 2023 Aug; 104(2):367-377. PubMed ID: 37230224
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  • 18. 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
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  • 19. Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay.
    Horinouchi T, Nozu K, Yamamura T, Minamikawa S, Nagano C, Sakakibara N, Nakanishi K, Shima Y, Morisada N, Ishiko S, Aoto Y, Nagase H, Takeda H, Rossanti R, Kaito H, Matsuo M, Iijima K.
    Sci Rep; 2019 Sep 03; 9(1):12696. PubMed ID: 31481700
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  • 20. A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.
    King K, Flinter FA, Green PM.
    Hum Mutat; 2006 Oct 03; 27(10):1061. PubMed ID: 16941480
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