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    Results: 10

    1.

    Mechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes.

    Kawashima Y, Géléoc GS, Kurima K, Labay V, Lelli A, Asai Y, Makishima T, Wu DK, Della Santina CC, Holt JR, Griffith AJ.

    J Clin Invest. 2011 Dec;121(12):4796-809. doi: 10.1172/JCI60405. Epub 2011 Nov 21.

    PMID:
    22105175
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    2.

    Topology of transmembrane channel-like gene 1 protein.

    Labay V, Weichert RM, Makishima T, Griffith AJ.

    Biochemistry. 2010 Oct 5;49(39):8592-8. doi: 10.1021/bi1004377. Epub 2010 Sep 8.

    PMID:
    20672865
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    3.

    Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment.

    Hilgert N, Monahan K, Kurima K, Li C, Friedman RA, Griffith AJ, Van Camp G.

    J Hum Genet. 2009 Mar;54(3):188-90. doi: 10.1038/jhg.2009.1. Epub 2009 Jan 30.

    PMID:
    19180119
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan.

    Kitajiri SI, McNamara R, Makishima T, Husnain T, Zafar AU, Kittles RA, Ahmed ZM, Friedman TB, Riazuddin S, Griffith AJ.

    Clin Genet. 2007 Dec;72(6):546-50. Epub 2007 Sep 17.

    PMID:
    17877751
    [PubMed - indexed for MEDLINE]
    5.

    A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1.

    Kitajiri S, Makishima T, Friedman TB, Griffith AJ.

    Clin Genet. 2007 Feb;71(2):148-52.

    PMID:
    17250663
    [PubMed - indexed for MEDLINE]
    6.

    Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36.

    Noguchi Y, Kurima K, Makishima T, de Angelis MH, Fuchs H, Frolenkov G, Kitamura K, Griffith AJ.

    Genetics. 2006 Aug;173(4):2111-9. Epub 2006 Apr 28.

    PMID:
    16648588
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    7.

    Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss.

    Makishima T, Kurima K, Brewer CC, Griffith AJ.

    Otol Neurotol. 2004 Sep;25(5):714-9.

    PMID:
    15354000
    [PubMed - indexed for MEDLINE]
    8.

    Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis.

    Kurima K, Yang Y, Sorber K, Griffith AJ.

    Genomics. 2003 Sep;82(3):300-8.

    PMID:
    12906855
    [PubMed - indexed for MEDLINE]
    9.

    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;30(3):257-8. Epub 2002 Feb 19.

    PMID:
    11850623
    [PubMed - indexed for MEDLINE]
    10.

    Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.

    Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF Jr, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ.

    Nat Genet. 2002 Mar;30(3):277-84. Epub 2002 Feb 19.

    PMID:
    11850618
    [PubMed - indexed for MEDLINE]

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