메뉴 건너뛰기




Volumn 344, Issue 2, 2006, Pages 511-516

Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene

Author keywords

12S rRNA mutation; Auditory brainstem response; Nonsyndromic hearing loss; Otoacoustic emissions; Pure tone audiometry

Indexed keywords

MITOCHONDRIAL RNA; RIBOSOMAL RNA 12S; UNCLASSIFIED DRUG;

EID: 33646087204     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2006.03.143     Document Type: Article
Times cited : (40)

References (37)
  • 1
    • 0026410464 scopus 로고
    • Genetic epidemiology of hearing impairment
    • Morton N.E. Genetic epidemiology of hearing impairment. Ann. N. Y. Acad. Sci. 630 (1991) 16-31
    • (1991) Ann. N. Y. Acad. Sci. , vol.630 , pp. 16-31
    • Morton, N.E.1
  • 3
    • 0031683423 scopus 로고    scopus 로고
    • The fundamental and medical impacts of recent progress in research on hereditary hearing loss
    • Kalatzis V., and Petit C. The fundamental and medical impacts of recent progress in research on hereditary hearing loss. Hum. Mol. Genet. 7 (1998) 1589-1597
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1589-1597
    • Kalatzis, V.1    Petit, C.2
  • 4
    • 0037092599 scopus 로고    scopus 로고
    • Genetics, genomics and gene discovery in the auditory system
    • Morton C.C. Genetics, genomics and gene discovery in the auditory system. Hum. Mol. Genet. 11 (2002) 1229-1240
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1229-1240
    • Morton, C.C.1
  • 5
    • 0034114952 scopus 로고    scopus 로고
    • Maternally inherited hearing impairment
    • Van Camp G., and Smith R.J. Maternally inherited hearing impairment. Clin. Genet. 57 (2000) 409-414
    • (2000) Clin. Genet. , vol.57 , pp. 409-414
    • Van Camp, G.1    Smith, R.J.2
  • 6
    • 0033058511 scopus 로고    scopus 로고
    • Mitochondrial deafness mutations reviewed
    • Fischel-Ghodsian N. Mitochondrial deafness mutations reviewed. Hum. Mutat. 13 (1999) 261-270
    • (1999) Hum. Mutat. , vol.13 , pp. 261-270
    • Fischel-Ghodsian, N.1
  • 8
    • 0027515721 scopus 로고
    • Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity
    • Fischel-Ghodsian N., Prezant T.R., Bu X., and Oztas S. Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity. Am. J. Otolaryngol. 14 (1993) 399-403
    • (1993) Am. J. Otolaryngol. , vol.14 , pp. 399-403
    • Fischel-Ghodsian, N.1    Prezant, T.R.2    Bu, X.3    Oztas, S.4
  • 13
    • 0032796453 scopus 로고    scopus 로고
    • Genetic factors in aminoglycoside toxicity
    • Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Ann. N. Y. Acad. Sci. 884 (1999) 99-109
    • (1999) Ann. N. Y. Acad. Sci. , vol.884 , pp. 99-109
    • Fischel-Ghodsian, N.1
  • 14
    • 0344167734 scopus 로고    scopus 로고
    • Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss
    • Li R., Xing G., Yan M., Cao X., Liu X.Z., Bu X., and Guan M.X. Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss. Am. J. Med. Genet. A 124 (2004) 113-117
    • (2004) Am. J. Med. Genet. A , vol.124 , pp. 113-117
    • Li, R.1    Xing, G.2    Yan, M.3    Cao, X.4    Liu, X.Z.5    Bu, X.6    Guan, M.X.7
  • 15
    • 0024587434 scopus 로고
    • Acoustic distortion products in humans: systematic changes in amplitudes as a function of f2/f1 ratio
    • Harris F.P., Lonsbury-Martin B.L., Stagner B.B., Coats A.C., and Martin G.K. Acoustic distortion products in humans: systematic changes in amplitudes as a function of f2/f1 ratio. J. Acoust. Soc. Am. 85 (1989) 220-229
    • (1989) J. Acoust. Soc. Am. , vol.85 , pp. 220-229
    • Harris, F.P.1    Lonsbury-Martin, B.L.2    Stagner, B.B.3    Coats, A.C.4    Martin, G.K.5
  • 17
    • 0343852695 scopus 로고    scopus 로고
    • Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy
    • el-Schahawi M., Lopez de Munain A., Sarrazin A.M., Shanske A.L., Basirico M., Shanske S., and DiMauro S. Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy. Neurology 48 (1997) 453-456
    • (1997) Neurology , vol.48 , pp. 453-456
    • el-Schahawi, M.1    Lopez de Munain, A.2    Sarrazin, A.M.3    Shanske, A.L.4    Basirico, M.5    Shanske, S.6    DiMauro, S.7
  • 20
    • 0142119393 scopus 로고    scopus 로고
    • Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia
    • Malik S.G., Pieter N., Sudoyo H., Kadir A., and Marzuki S. Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. J. Hum. Genet. 48 (2003) 480-483
    • (2003) J. Hum. Genet. , vol.48 , pp. 480-483
    • Malik, S.G.1    Pieter, N.2    Sudoyo, H.3    Kadir, A.4    Marzuki, S.5
  • 21
    • 20344407298 scopus 로고    scopus 로고
    • Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss
    • Li Z., Li R., Chen J., Liao Z., Zhu Y., Qian Y., Xiong S., Heman-Ackah S., Wu J., Choo D.I., and Guan M.X. Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss. Hum. Genet. 117 (2005) 9-15
    • (2005) Hum. Genet. , vol.117 , pp. 9-15
    • Li, Z.1    Li, R.2    Chen, J.3    Liao, Z.4    Zhu, Y.5    Qian, Y.6    Xiong, S.7    Heman-Ackah, S.8    Wu, J.9    Choo, D.I.10    Guan, M.X.11
  • 24
    • 0033858002 scopus 로고    scopus 로고
    • A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity
    • Guan M.X., Fischel-Ghodsian N., and Attardi G. A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Hum. Mol. Genet. 9 (2000) 1787-1793
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1787-1793
    • Guan, M.X.1    Fischel-Ghodsian, N.2    Attardi, G.3
  • 25
    • 0035869153 scopus 로고    scopus 로고
    • Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation
    • Guan M.X., Fischel-Ghodsian N., and Attardi G. Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 10 (2001) 573-580
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 573-580
    • Guan, M.X.1    Fischel-Ghodsian, N.2    Attardi, G.3
  • 26
    • 18544371057 scopus 로고    scopus 로고
    • Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness
    • Bykhovskaya Y., Yang H., Taylor K., Hang T., Tun R.Y., Estivill X., Casano R.A., Majamaa K., Shohat M., and Fischel-Ghodsian N. Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. Genet. Med. 3 (2001) 177-180
    • (2001) Genet. Med. , vol.3 , pp. 177-180
    • Bykhovskaya, Y.1    Yang, H.2    Taylor, K.3    Hang, T.4    Tun, R.Y.5    Estivill, X.6    Casano, R.A.7    Majamaa, K.8    Shohat, M.9    Fischel-Ghodsian, N.10
  • 29
    • 13844250411 scopus 로고    scopus 로고
    • Audiological features and mitochondrial DNA sequence in a large family carrying mitochondrial A1555G mutation without use of aminoglycoside
    • Matsunaga T., Kumanomido H., Shiroma M., Goto Y., and Usami S. Audiological features and mitochondrial DNA sequence in a large family carrying mitochondrial A1555G mutation without use of aminoglycoside. Ann. Otol. Rhinol. Laryngol. 114 (2005) 153-160
    • (2005) Ann. Otol. Rhinol. Laryngol. , vol.114 , pp. 153-160
    • Matsunaga, T.1    Kumanomido, H.2    Shiroma, M.3    Goto, Y.4    Usami, S.5
  • 30
    • 8544234261 scopus 로고    scopus 로고
    • Audiologic features of hearing loss due to the 1,555 mutation of mitochondrial DNA
    • Tsuiki T., Murai K., Murai S., Kitamura K., and Tamagawa Y. Audiologic features of hearing loss due to the 1,555 mutation of mitochondrial DNA. Ann. Otol. Rhinol. Laryngol. 106 (1997) 643-648
    • (1997) Ann. Otol. Rhinol. Laryngol. , vol.106 , pp. 643-648
    • Tsuiki, T.1    Murai, K.2    Murai, S.3    Kitamura, K.4    Tamagawa, Y.5
  • 31
    • 0842277862 scopus 로고    scopus 로고
    • Audiovestibular findings in patients with mitochondrial A1555G mutation
    • Noguchi Y., Yashima T., Ito T., Sumi T., Tsuzuku T., and Kitamura K. Audiovestibular findings in patients with mitochondrial A1555G mutation. Laryngoscope 114 (2004) 344-348
    • (2004) Laryngoscope , vol.114 , pp. 344-348
    • Noguchi, Y.1    Yashima, T.2    Ito, T.3    Sumi, T.4    Tsuzuku, T.5    Kitamura, K.6
  • 32
    • 0031004773 scopus 로고    scopus 로고
    • Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation
    • Usami S., Abe S., Kasai M., Shinkawa H., Moeller B., Kenyon J.B., and Kimberling W.J. Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation. Laryngoscope 107 (1997) 483-490
    • (1997) Laryngoscope , vol.107 , pp. 483-490
    • Usami, S.1    Abe, S.2    Kasai, M.3    Shinkawa, H.4    Moeller, B.5    Kenyon, J.B.6    Kimberling, W.J.7
  • 34
    • 0025344987 scopus 로고
    • Distortion product emissions in humans. II. Relations to acoustic immittance and stimulus frequency and spontaneous otoacoustic emissions in normally hearing subjects
    • Lonsbury-Martin B.L., Harris F.P., Stagner B.B., Hawkins M.D., and Martin G.K. Distortion product emissions in humans. II. Relations to acoustic immittance and stimulus frequency and spontaneous otoacoustic emissions in normally hearing subjects. Ann. Otol. Rhinol. Laryngol. Suppl. 147 (1990) 15-29
    • (1990) Ann. Otol. Rhinol. Laryngol. Suppl. , vol.147 , pp. 15-29
    • Lonsbury-Martin, B.L.1    Harris, F.P.2    Stagner, B.B.3    Hawkins, M.D.4    Martin, G.K.5
  • 35
    • 0029832209 scopus 로고    scopus 로고
    • Audiovestibular findings in patients with deafness caused by a mitochondrial susceptibility mutation and precipitated by an inherited nuclear mutation or aminoglycosides
    • Braverman I., Jaber L., Levi H., Adelman C., Arons K.S., Fischel-Ghodsian N., Shohat M., and Elidan J. Audiovestibular findings in patients with deafness caused by a mitochondrial susceptibility mutation and precipitated by an inherited nuclear mutation or aminoglycosides. Arch. Otolaryngol. Head Neck Surg. 122 (1996) 1001-1004
    • (1996) Arch. Otolaryngol. Head Neck Surg. , vol.122 , pp. 1001-1004
    • Braverman, I.1    Jaber, L.2    Levi, H.3    Adelman, C.4    Arons, K.S.5    Fischel-Ghodsian, N.6    Shohat, M.7    Elidan, J.8
  • 36
    • 0030016359 scopus 로고    scopus 로고
    • Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation
    • Guan M.X., Fischel-Ghodsian N., and Attardi G. Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 5 (1996) 963-971
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 963-971
    • Guan, M.X.1    Fischel-Ghodsian, N.2    Attardi, G.3
  • 37
    • 1842678661 scopus 로고    scopus 로고
    • Molecular pathogenetic mechanism of maternally inherited deafness
    • Guan M.X. Molecular pathogenetic mechanism of maternally inherited deafness. Ann. N. Y. Acad. Sci. 1011 (2004) 259-271
    • (2004) Ann. N. Y. Acad. Sci. , vol.1011 , pp. 259-271
    • Guan, M.X.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.