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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

160 related items for PubMed ID: 22610276

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  • 3. 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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  • 4. Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.
    Robertson NG, Cremers CW, Huygen PL, Ikezono T, Krastins B, Kremer H, Kuo SF, Liberman MC, Merchant SN, Miller CE, Nadol JB, Sarracino DA, Verhagen WI, Morton CC.
    Hum Mol Genet; 2006 Apr 01; 15(7):1071-85. PubMed ID: 16481359
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  • 8. 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 01; 35(12):1506-1513. PubMed ID: 25230692
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  • 9. Homozygote loss-of-function variants in the human COCH gene underlie hearing loss.
    Danial-Farran N, Chervinsky E, Nadar-Ponniah PT, Cohen Barak E, Taiber S, Khayat M, Avraham KB, Shalev SA.
    Eur J Hum Genet; 2021 Feb 01; 29(2):338-342. PubMed ID: 32939038
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  • 10. Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9.
    Robertson NG, Resendes BL, Lin JS, Lee C, Aster JC, Adams JC, Morton CC.
    Hum Mol Genet; 2001 Oct 15; 10(22):2493-500. PubMed ID: 11709536
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  • 11. Cochlin in normal middle ear and abnormal middle ear deposits in DFNA9 and Coch (G88E/G88E) mice.
    Robertson NG, O'Malley JT, Ong CA, Giersch AB, Shen J, Stankovic KM, Morton CC.
    J Assoc Res Otolaryngol; 2014 Dec 15; 15(6):961-74. PubMed ID: 25049087
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  • 12. A Novel COCH p.D544Vfs*3 Variant Associated with DFNA9 Sensorineural Hearing Loss Causes Pathological Multimeric Cochlin Formation.
    Peng Y, Xiang M, Fan T, Zhong X, Dai A, Feng J, Guan P, Gong J, Li J, Wang Y.
    Life (Basel); 2023 Dec 25; 14(1):. PubMed ID: 38255649
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  • 13. Role of protein misfolding in DFNA9 hearing loss.
    Yao J, Py BF, Zhu H, Bao J, Yuan J.
    J Biol Chem; 2010 May 14; 285(20):14909-14919. PubMed ID: 20228067
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  • 14. Identification of a novel Cochlin isoform in the perilymph: insights to Cochlin function and the pathogenesis of DFNA9.
    Ikezono T, Shindo S, Li L, Omori A, Ichinose S, Watanabe A, Kobayashi T, Pawankar R, Yagi T.
    Biochem Biophys Res Commun; 2004 Feb 06; 314(2):440-6. PubMed ID: 14733925
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  • 15. 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 06; 118(1):29-34. PubMed ID: 16078052
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  • 17. First Report of Bilateral External Auditory Canal Cochlin Aggregates ("Cochlinomas") with Multifocal Amyloid-Like Deposits, Associated with Sensorineural Hearing Loss and a Novel Genetic Variant in COCH Encoding Cochlin.
    Basu A, Boczek NJ, Robertson NG, Nasr SH, Jethanamest D, McPhail ED, Kurtin PJ, Dasari S, Butz M, Morton CC, Highsmith WE, Zhou F.
    Head Neck Pathol; 2020 Sep 06; 14(3):808-816. PubMed ID: 31493294
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  • 18. A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9.
    Masuda M, Mutai H, Arimoto Y, Nakano A, Matsunaga T.
    Biochem Biophys Res Commun; 2016 Jan 08; 469(2):270-4. PubMed ID: 26631968
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  • 19. Involvement of cochlin binding to sulfated heparan sulfate/heparin in the pathophysiology of autosomal dominant late-onset hearing loss (DFNA9).
    Honda T, Kawasaki N, Yanagihara R, Tamura R, Murakami K, Ichimiya T, Matsumoto N, Nishihara S, Yamamoto K.
    PLoS One; 2022 Jan 08; 17(7):e0268485. PubMed ID: 35901072
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  • 20. 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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