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Volumn 119, Issue 12, 2010, Pages 830-835

Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population

(16)  Hildebrand, Michael S a   Kahrizi, Kimia g   Bromhead, Catherine J j   Shearer, A Eliot a   Webster, Jennifer A c   Khodaei, Hossein h   Abtahi, Rezvan i   Bazazzadegan, Niloofar g   Babanejad, Mojgan g   Nikzat, Nooshin g   Kimberling, William J f   Stephan, Dietrich c,d,e   Huygen, Patrick L M k   Bahlo, Melanie j   Smith, Richard J H a,b   Najmabadi, Hossein g  


Author keywords

Deletion; DFNB7 11; Splice site mutation; TMC1 gene

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TMC1; UNCLASSIFIED DRUG;

EID: 78649936024     PISSN: 00034894     EISSN: None     Source Type: Journal    
DOI: 10.1177/000348941011901207     Document Type: Article
Times cited : (28)

References (18)
  • 2
    • 77951713725 scopus 로고    scopus 로고
    • A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus
    • Yang T, Kahrizi K, Bazazzadeghan N, Meyer N, Najmabadi, Smith RJ. A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus. Clin Genet 2010;77:395-8.
    • (2010) Clin Genet , vol.77 , pp. 395-398
    • Yang, T.1    Kahrizi, K.2    Bazazzadeghan, N.3    Meyer, N.4    Najmabadi5    Smith, R.J.6
  • 3
    • 63349110148 scopus 로고    scopus 로고
    • Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations
    • Sirmaci A, Duman D, Oztürkmen-Akay H, et al. Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. Int J Pediatr Otorhinolaryngol 2009;73:699-705.
    • (2009) Int J Pediatr Otorhinolaryngol , vol.73 , pp. 699-705
    • Sirmaci, A.1    Duman, D.2    Oztürkmen-Akay, H.3
  • 4
    • 33344464081 scopus 로고    scopus 로고
    • Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment
    • Santos RL, Wajid M, Khan MN, et al. Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment. Hum Mutat 2005;26:396.
    • (2005) Hum Mutat , vol.26 , pp. 396
    • Santos, R.L.1    Wajid, M.2    Khan, M.N.3
  • 5
    • 44849098718 scopus 로고    scopus 로고
    • TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families
    • Tlili A, Rebeh IB, Aifa-Hmani M, et al. TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families. Audiol Neurootol 2008;13:213-8.
    • (2008) Audiol Neurootol , vol.13 , pp. 213-218
    • Tlili, A.1    Rebeh, I.B.2    Aifa-Hmani, M.3
  • 6
    • 33644877948 scopus 로고    scopus 로고
    • Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree
    • Meyer CG, Gasmelseed NM, Mergani A, et al. Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. Hum Mutat 2005;25:100.
    • (2005) Hum Mutat , vol.25 , pp. 100
    • Meyer, C.G.1    Gasmelseed, N.M.2    Mergani, A.3
  • 8
    • 33646139585 scopus 로고    scopus 로고
    • Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss
    • Kalay E, Karaguzel A, Caylan R, et al. Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. Hum Mutat 2005;26:591.
    • (2005) Hum Mutat , vol.26 , pp. 591
    • Kalay, E.1    Karaguzel, A.2    Caylan, R.3
  • 9
    • 0036510053 scopus 로고    scopus 로고
    • Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
    • Kurima K, Peters LM, Yang Y, et al. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet 2002;30:277-84.
    • (2002) Nat Genet , vol.30 , pp. 277-284
    • Kurima, K.1    Peters, L.M.2    Yang, Y.3
  • 10
    • 49549121850 scopus 로고    scopus 로고
    • Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11
    • Hilgert N, Alasti F, Dieltjens N, et al. Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. Clin Genet 2008;74:223-32.
    • (2008) Clin Genet , vol.74 , pp. 223-232
    • Hilgert, N.1    Alasti, F.2    Dieltjens, N.3
  • 11
    • 59349118706 scopus 로고    scopus 로고
    • Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?
    • Hilgert N, Smith RJ, Van Camp G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 2009;681:189-96.
    • (2009) Mutat Res , vol.681 , pp. 189-196
    • Hilgert, N.1    Smith, R.J.2    Van Camp, G.3
  • 12
    • 33846682263 scopus 로고    scopus 로고
    • A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype - Phenotype correlation for amino acid-572 of TMC1
    • DOI 10.1111/j.1399-0004.2007.00739.x
    • Kitajiri S, Makishima T, Friedman TB, Griffith AJ. A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1. Clin Genet 2007;71:148-52. (Pubitemid 46189218)
    • (2007) Clinical Genetics , vol.71 , Issue.2 , pp. 148-152
    • Kitajiri, S.1    Makishima, T.2    Friedman, T.B.3    Griffith, A.J.4
  • 13
    • 63149141393 scopus 로고    scopus 로고
    • Amino acid 572 in TMC1: Hot spot or critical functional residue for dominant mutations causing hearing impairment
    • Hilgert N, Monahan K, Kurima K, et al. Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment. J Hum Genet 2009;54:188-90.
    • (2009) J Hum Genet , vol.54 , pp. 188-190
    • Hilgert, N.1    Monahan, K.2    Kurima, K.3
  • 14
    • 0036509711 scopus 로고    scopus 로고
    • Beethoven, a mouse model for dominant, progressive hearing loss DFNA36
    • Vreugde S, Erven A, Kros CJ, et al. Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nat Genet 2002;30:257-8.
    • (2002) Nat Genet , vol.30 , pp. 257-258
    • Vreugde, S.1    Erven, A.2    Kros, C.J.3
  • 15
    • 33746217842 scopus 로고    scopus 로고
    • Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea
    • DOI 10.1113/jphysiol.2005.095661
    • Marcotti W, Erven A, Johnson SL, Steel KP, Kros CJ. Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea. J Physiol 2006;574:677-98. (Pubitemid 44089067)
    • (2006) Journal of Physiology , vol.574 , Issue.3 , pp. 677-698
    • Marcotti, W.1    Erven, A.2    Johnson, S.L.3    Steel, K.P.4    Kros, C.J.5
  • 17
    • 67650739409 scopus 로고    scopus 로고
    • Generating linkage mapping files from Affymetrix SNP chip data
    • Bahlo M, Bromhead CJ. Generating linkage mapping files from Affymetrix SNP chip data. Bioinformatics 2009;25:1961-2.
    • (2009) Bioinformatics , vol.25 , pp. 1961-1962
    • Bahlo, M.1    Bromhead, C.J.2
  • 18
    • 0030766420 scopus 로고    scopus 로고
    • A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p
    • Brown MR, Tomek MS, Van Laer L, et al. A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p. Am J Hum Genet 1997;61:924-7.
    • (1997) Am J Hum Genet , vol.61 , pp. 924-927
    • Brown, M.R.1    Tomek, M.S.2    Van Laer, L.3


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