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Items: 1 to 20 of 260

1.

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
2.

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
3.

Mouse tales from Kresge: the deafness mouse.

Drury SS, Keats BJ.

J Am Acad Audiol. 2003 Aug;14(6):296-301. Review.

PMID:
14552423
4.

Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2.

Scott DA, Drury S, Sundstrom RA, Bishop J, Swiderski RE, Carmi R, Ramesh A, Elbedour K, Srikumari Srisailapathy CR, Keats BJ, Sheffield VC, Smith RJ.

Gene. 2000 Apr 4;246(1-2):265-74.

PMID:
10767548
5.

Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.

Nakanishi H, Kurima K, Kawashima Y, Griffith AJ.

Auris Nasus Larynx. 2014 Oct;41(5):399-408. doi: 10.1016/j.anl.2014.04.001. Epub 2014 Jun 2.

6.

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
7.

Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19.

Scott DA, Greinwald JH Jr, Marietta JR, Drury S, Swiderski RE, Viñas A, DeAngelis MM, Carmi R, Ramesh A, Kraft ML, Elbedour K, Skworak AB, Friedman RA, Srikumari Srisailapathy CR, Verhoeven K, Van Gamp G, Lovett M, Deininger PL, Batzer MA, Morton CC, Keats BJ, Smith RJ, Sheffield VC.

Gene. 1998 Jul 30;215(2):461-9.

PMID:
9758550
8.

TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families.

Tlili A, Rebeh IB, Aifa-Hmani M, Dhouib H, Moalla J, Tlili-Chouchène J, Said MB, Lahmar I, Benzina Z, Charfedine I, Driss N, Ghorbel A, Ayadi H, Masmoudi S.

Audiol Neurootol. 2008;13(4):213-8. doi: 10.1159/000115430. Epub 2008 Feb 7.

PMID:
18259073
9.

Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6.

Mitchem KL, Hibbard E, Beyer LA, Bosom K, Dootz GA, Dolan DF, Johnson KR, Raphael Y, Kohrman DC.

Hum Mol Genet. 2002 Aug 1;11(16):1887-98.

PMID:
12140191
10.

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells.

Avraham KB, Hasson T, Steel KP, Kingsley DM, Russell LB, Mooseker MS, Copeland NG, Jenkins NA.

Nat Genet. 1995 Dec;11(4):369-75.

PMID:
7493015
11.

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;34(4):421-8.

PMID:
12833159
12.

The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene.

Alagramam KN, Murcia CL, Kwon HY, Pawlowski KS, Wright CG, Woychik RP.

Nat Genet. 2001 Jan;27(1):99-102.

PMID:
11138007
13.
14.

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;180(4):1560-9. doi: 10.1016/j.ajpath.2011.12.034. Epub 2012 Feb 11.

PMID:
22330676
15.

A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family.

Zhao Y, Wang D, Zong L, Zhao F, Guan L, Zhang P, Shi W, Lan L, Wang H, Li Q, Han B, Yang L, Jin X, Wang J, Wang J, Wang Q.

PLoS One. 2014 May 14;9(5):e97064. doi: 10.1371/journal.pone.0097064. eCollection 2014.

16.

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.

17.

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB.

Science. 1998 May 29;280(5368):1447-51.

18.

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;21(4):363-9.

PMID:
10192385
19.

Characterisation of DRASIC in the mouse inner ear.

Hildebrand MS, de Silva MG, Klockars T, Rose E, Price M, Smith RJ, McGuirt WT, Christopoulos H, Petit C, Dahl HH.

Hear Res. 2004 Apr;190(1-2):149-60.

PMID:
15051137
20.

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.

Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J.

Nat Genet. 1999 Aug;22(4):366-9.

PMID:
10431241

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