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Journal Abstract Search

209 related items for PubMed ID: 12843317

  • 1. Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9.
    Robertson NG, Hamaker SA, Patriub V, Aster JC, Morton CC.
    J Med Genet; 2003 Jul; 40(7):479-86. PubMed ID: 12843317
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  • 2. Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.
    Jung J, Kim HS, Lee MG, Yang EJ, Choi JY.
    Hum Mutat; 2015 Dec; 36(12):1168-75. PubMed ID: 26256111
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  • 3. Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.
    Bae SH, Robertson NG, Cho HJ, Morton CC, Jung DJ, Baek JI, Choi SY, Lee J, Lee KY, Kim UK.
    Hum Mutat; 2014 Dec; 35(12):1506-1513. PubMed ID: 25230692
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  • 6. Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.
    Wang Q, Fei P, Gu H, Zhang Y, Ke X, Liu Y.
    PLoS One; 2017 Dec; 12(1):e0170011. PubMed ID: 28099493
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  • 11. Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder.
    Makishima T, Rodriguez CI, Robertson NG, Morton CC, Stewart CL, Griffith AJ.
    Hum Genet; 2005 Oct; 118(1):29-34. PubMed ID: 16078052
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  • 12. Hearing and vestibular deficits in the Coch(-/-) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder.
    Jones SM, Robertson NG, Given S, Giersch AB, Liberman MC, Morton CC.
    Hear Res; 2011 Feb; 272(1-2):42-8. PubMed ID: 21073934
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  • 14. On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.
    Verdoodt D, Van Camp G, Ponsaerts P, Van Rompaey V.
    Hear Res; 2021 Mar 01; 401():108162. PubMed ID: 33421658
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  • 20. Expression of cochlin in the vestibular organ of rats.
    Ikezono T, Shindo S, Ishizaki M, Li L, Tomiyama S, Takumida M, Pawankar R, Watanabe A, Saito A, Yagi T.
    ORL J Otorhinolaryngol Relat Spec; 2005 Mar 01; 67(5):252-8. PubMed ID: 16374056
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