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Journal Abstract Search

268 related items for PubMed ID: 15905332

  • 1. 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
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  • 2. Targeted knockout and lacZ reporter expression of the mouse Tmhs deafness gene and characterization of the hscy-2J mutation.
    Longo-Guess CM, Gagnon LH, Fritzsch B, Johnson KR.
    Mamm Genome; 2007 Sep 31; 18(9):646-56. PubMed ID: 17876667
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  • 3. Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.
    Shabbir MI, Ahmed ZM, Khan SY, Riazuddin S, Waryah AM, Khan SN, Camps RD, Ghosh M, Kabra M, Belyantseva IA, Friedman TB, Riazuddin S.
    J Med Genet; 2006 Aug 31; 43(8):634-40. PubMed ID: 16459341
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  • 8. 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 31; 234(1-2):21-8. PubMed ID: 17967520
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  • 10. Mutations of the mouse ELMO domain containing 1 gene (Elmod1) link small GTPase signaling to actin cytoskeleton dynamics in hair cell stereocilia.
    Johnson KR, Longo-Guess CM, Gagnon LH.
    PLoS One; 2012 Dec 31; 7(4):e36074. PubMed ID: 22558334
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  • 11. A novel stereocilia defect in sensory hair cells of the deaf mouse mutant Tasmanian devil.
    Erven A, Skynner MJ, Okumura K, Takebayashi S, Brown SD, Steel KP, Allen ND.
    Eur J Neurosci; 2002 Oct 31; 16(8):1433-41. PubMed ID: 12405956
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  • 12. Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice.
    Di Palma F, Belyantseva IA, Kim HJ, Vogt TF, Kachar B, Noben-Trauth K.
    Proc Natl Acad Sci U S A; 2002 Nov 12; 99(23):14994-9. PubMed ID: 12403827
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  • 13. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
    Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD.
    Nat Genet; 2003 Aug 12; 34(4):421-8. PubMed ID: 12833159
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  • 14. Tprn is essential for the integrity of stereociliary rootlet in cochlear hair cells in mice.
    Men Y, Li X, Tu H, Zhang A, Fu X, Wang Z, Jin Y, Hou C, Zhang T, Zhang S, Zhou Y, Li B, Li J, Sun X, Wang H, Gao J.
    Front Med; 2019 Dec 12; 13(6):690-704. PubMed ID: 30159668
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  • 15. Identification of three novel hearing loss mouse strains with mutations in the Tmc1 gene.
    Manji SS, Miller KA, Williams LH, Dahl HH.
    Am J Pathol; 2012 Apr 12; 180(4):1560-9. PubMed ID: 22330676
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  • 16. The chloride intracellular channel protein CLIC5 is expressed at high levels in hair cell stereocilia and is essential for normal inner ear function.
    Gagnon LH, Longo-Guess CM, Berryman M, Shin JB, Saylor KW, Yu H, Gillespie PG, Johnson KR.
    J Neurosci; 2006 Oct 04; 26(40):10188-98. PubMed ID: 17021174
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  • 17. Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells.
    Adato A, Lefèvre G, Delprat B, Michel V, Michalski N, Chardenoux S, Weil D, El-Amraoui A, Petit C.
    Hum Mol Genet; 2005 Dec 15; 14(24):3921-32. PubMed ID: 16301217
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  • 18. Neuroplastin Isoform Np55 Is Expressed in the Stereocilia of Outer Hair Cells and Required for Normal Outer Hair Cell Function.
    Zeng WZ, Grillet N, Dewey JB, Trouillet A, Krey JF, Barr-Gillespie PG, Oghalai JS, Müller U.
    J Neurosci; 2016 Aug 31; 36(35):9201-16. PubMed ID: 27581460
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  • 19. Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
    Vreugde S, Erven A, Kros CJ, Marcotti W, Fuchs H, Kurima K, Wilcox ER, Friedman TB, Griffith AJ, Balling R, Hrabé De Angelis M, Avraham KB, Steel KP.
    Nat Genet; 2002 Mar 31; 30(3):257-8. PubMed ID: 11850623
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  • 20. Tmc2 expression partially restores auditory function in a mouse model of DFNB7/B11 deafness caused by loss of Tmc1 function.
    Nakanishi H, Kurima K, Pan B, Wangemann P, Fitzgerald TS, Géléoc GS, Holt JR, Griffith AJ.
    Sci Rep; 2018 Aug 14; 8(1):12125. PubMed ID: 30108230
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