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208 related items for PubMed ID: 17967520

  • 1. A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9.
    Longo-Guess C, Gagnon LH, Bergstrom DE, Johnson KR.
    Hear Res; 2007 Dec; 234(1-2):21-8. PubMed ID: 17967520
    [Abstract] [Full Text] [Related]

  • 2. Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3.
    Ramakrishnan NA, Drescher MJ, Drescher DG.
    J Biol Chem; 2009 Jan 16; 284(3):1364-72. PubMed ID: 19004828
    [Abstract] [Full Text] [Related]

  • 3. Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse.
    Roux I, Safieddine S, Nouvian R, Grati M, Simmler MC, Bahloul A, Perfettini I, Le Gall M, Rostaing P, Hamard G, Triller A, Avan P, Moser T, Petit C.
    Cell; 2006 Oct 20; 127(2):277-89. PubMed ID: 17055430
    [Abstract] [Full Text] [Related]

  • 4. Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene.
    Santarelli R, Del Castillo I, Rodríguez-Ballesteros M, Scimemi P, Cama E, Arslan E, Starr A.
    J Assoc Res Otolaryngol; 2009 Dec 20; 10(4):545-56. PubMed ID: 19636622
    [Abstract] [Full Text] [Related]

  • 5. Calcium regulates molecular interactions of otoferlin with soluble NSF attachment protein receptor (SNARE) proteins required for hair cell exocytosis.
    Ramakrishnan NA, Drescher MJ, Morley BJ, Kelley PM, Drescher DG.
    J Biol Chem; 2014 Mar 28; 289(13):8750-66. PubMed ID: 24478316
    [Abstract] [Full Text] [Related]

  • 6. Viral Transfer of Mini-Otoferlins Partially Restores the Fast Component of Exocytosis and Uncovers Ultrafast Endocytosis in Auditory Hair Cells of Otoferlin Knock-Out Mice.
    Tertrais M, Bouleau Y, Emptoz A, Belleudy S, Sutton RB, Petit C, Safieddine S, Dulon D.
    J Neurosci; 2019 May 01; 39(18):3394-3411. PubMed ID: 30833506
    [Abstract] [Full Text] [Related]

  • 7. Melody, an ENU mutation in Caspase 3, alters the catalytic cysteine residue and causes sensorineural hearing loss in mice.
    Parker A, Hardisty-Hughes RE, Wisby L, Joyce S, Brown SD.
    Mamm Genome; 2010 Dec 01; 21(11-12):565-76. PubMed ID: 21116635
    [Abstract] [Full Text] [Related]

  • 8. Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants.
    Strenzke N, Chakrabarti R, Al-Moyed H, Müller A, Hoch G, Pangrsic T, Yamanbaeva G, Lenz C, Pan KT, Auge E, Geiss-Friedlander R, Urlaub H, Brose N, Wichmann C, Reisinger E.
    EMBO J; 2016 Dec 01; 35(23):2519-2535. PubMed ID: 27729456
    [Abstract] [Full Text] [Related]

  • 9. Characterization of a new allele of Ames waltzer generated by ENU mutagenesis.
    Washington JL, Pitts D, Wright CG, Erway LC, Davis RR, Alagramam K.
    Hear Res; 2005 Apr 01; 202(1-2):161-9. PubMed ID: 15811708
    [Abstract] [Full Text] [Related]

  • 10. A dual-AAV approach restores fast exocytosis and partially rescues auditory function in deaf otoferlin knock-out mice.
    Al-Moyed H, Cepeda AP, Jung S, Moser T, Kügler S, Reisinger E.
    EMBO Mol Med; 2019 Jan 01; 11(1):. PubMed ID: 30509897
    [Abstract] [Full Text] [Related]

  • 11. Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.
    Mirghomizadeh F, Pfister M, Apaydin F, Petit C, Kupka S, Pusch CM, Zenner HP, Blin N.
    Neurobiol Dis; 2002 Jul 01; 10(2):157-64. PubMed ID: 12127154
    [Abstract] [Full Text] [Related]

  • 12. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
    Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C.
    Nat Genet; 1999 Apr 01; 21(4):363-9. PubMed ID: 10192385
    [Abstract] [Full Text] [Related]

  • 13. Characterization of a novel ENU-generated myosin VI mutant mouse strain with congenital deafness and vestibular dysfunction.
    Williams LH, Miller KA, Dahl HH, Manji SS.
    Hear Res; 2013 May 01; 299():53-62. PubMed ID: 23485424
    [Abstract] [Full Text] [Related]

  • 14. A Novel ENU-Induced Mutation in Myo6 Causes Vestibular Dysfunction and Deafness.
    Wong EY, Xu CY, Brahmachary M, Xu PX.
    PLoS One; 2016 May 01; 11(5):e0154984. PubMed ID: 27171474
    [Abstract] [Full Text] [Related]

  • 15. Otoferlin deficiency in zebrafish results in defects in balance and hearing: rescue of the balance and hearing phenotype with full-length and truncated forms of mouse otoferlin.
    Chatterjee P, Padmanarayana M, Abdullah N, Holman CL, LaDu J, Tanguay RL, Johnson CP.
    Mol Cell Biol; 2015 Mar 01; 35(6):1043-54. PubMed ID: 25582200
    [Abstract] [Full Text] [Related]

  • 16. Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell.
    Heidrych P, Zimmermann U, Kuhn S, Franz C, Engel J, Duncker SV, Hirt B, Pusch CM, Ruth P, Pfister M, Marcotti W, Blin N, Knipper M.
    Hum Mol Genet; 2009 Aug 01; 18(15):2779-90. PubMed ID: 19417007
    [Abstract] [Full Text] [Related]

  • 17. A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.
    Longo-Guess CM, Gagnon LH, Cook SA, Wu J, Zheng QY, Johnson KR.
    Proc Natl Acad Sci U S A; 2005 May 31; 102(22):7894-9. PubMed ID: 15905332
    [Abstract] [Full Text] [Related]

  • 18. The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss.
    Spiden SL, Bortolozzi M, Di Leva F, de Angelis MH, Fuchs H, Lim D, Ortolano S, Ingham NJ, Brini M, Carafoli E, Mammano F, Steel KP.
    PLoS Genet; 2008 Oct 31; 4(10):e1000238. PubMed ID: 18974863
    [Abstract] [Full Text] [Related]

  • 19. Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.
    Choi BY, Ahmed ZM, Riazuddin S, Bhinder MA, Shahzad M, Husnain T, Riazuddin S, Griffith AJ, Friedman TB.
    Clin Genet; 2009 Mar 31; 75(3):237-43. PubMed ID: 19250381
    [Abstract] [Full Text] [Related]

  • 20. Uncommon cytidine-homopolymer dimorphism in 5'-UTR of the human otoferlin gene.
    Mirghomizadeh F, Pfister M, Blin N, Pusch CM.
    Int J Mol Med; 2003 Jan 31; 11(1):63-4. PubMed ID: 12469219
    [Abstract] [Full Text] [Related]

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