메뉴 건너뛰기




Volumn 368, Issue 3, 2008, Pages 631-636

A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment

Author keywords

A827G mutation; Aminoglycosides; Hearing loss; Mitochondrial 12S rRNA; TRMU

Indexed keywords

AMINOGLYCOSIDE; RNA 12S;

EID: 39749195417     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2008.01.143     Document Type: Article
Times cited : (30)

References (30)
  • 2
    • 0034114952 scopus 로고    scopus 로고
    • Maternally inherited hearing impairment
    • Van C.G., and Smith R.J. Maternally inherited hearing impairment. Clin. Genet. 57 (2000) 409-414
    • (2000) Clin. Genet. , vol.57 , pp. 409-414
    • Van, C.G.1    Smith, R.J.2
  • 3
    • 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
  • 8
    • 0035141409 scopus 로고    scopus 로고
    • Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation
    • Hutchin T.P., Lench N.J., Arbuzova S., Markham A.F., and Mueller R.F. Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation. Eur. J. Hum. Genet. 9 (2001) 56-58
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 56-58
    • Hutchin, T.P.1    Lench, N.J.2    Arbuzova, S.3    Markham, A.F.4    Mueller, R.F.5
  • 14
    • 0036876068 scopus 로고    scopus 로고
    • Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan
    • Chu S.Y., Chiang S.C., Chien Y.H., and Hwu W.L. Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan. Acta Paediatr. Taiwan. 43 (2002) 330-333
    • (2002) Acta Paediatr. Taiwan. , vol.43 , pp. 330-333
    • Chu, S.Y.1    Chiang, S.C.2    Chien, Y.H.3    Hwu, W.L.4
  • 15
    • 33646186013 scopus 로고    scopus 로고
    • Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family
    • Xing G., Chen Z., Wei Q., Tian H., Li X., Zhou A., Bu X., and Cao X. Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family. Biochem. Biophys. Res. Commun. 344 (2006) 1253-1257
    • (2006) Biochem. Biophys. Res. Commun. , vol.344 , pp. 1253-1257
    • Xing, G.1    Chen, Z.2    Wei, Q.3    Tian, H.4    Li, X.5    Zhou, A.6    Bu, X.7    Cao, X.8
  • 16
    • 33847378054 scopus 로고    scopus 로고
    • Carrier frequency of the 35delG and A1555G deafness mutations in the Argentinean population. Impact on the newborn hearing screening
    • Gravina L.P., Foncuberta M.E., Estrada R.C., Barreiro C., and Chertkoff L. Carrier frequency of the 35delG and A1555G deafness mutations in the Argentinean population. Impact on the newborn hearing screening. Int. J. Pediatr. Otorhinolaryngol. 71 (2007) 639-643
    • (2007) Int. J. Pediatr. Otorhinolaryngol. , vol.71 , pp. 639-643
    • Gravina, L.P.1    Foncuberta, M.E.2    Estrada, R.C.3    Barreiro, C.4    Chertkoff, L.5
  • 17
    • 0031049863 scopus 로고    scopus 로고
    • Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation
    • Reid F.M., Rovio A., Holt I.J., and Jacobs H.T. Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation. Hum. Mol. Genet. 6 (1997) 443-449
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 443-449
    • Reid, F.M.1    Rovio, A.2    Holt, I.J.3    Jacobs, H.T.4
  • 19
    • 0043123153 scopus 로고    scopus 로고
    • Vienna RNA secondary structure server
    • Hofacker I.L. Vienna RNA secondary structure server. Nucleic Acids Res. 31 (2003) 3429-3431
    • (2003) Nucleic Acids Res. , vol.31 , pp. 3429-3431
    • Hofacker, I.L.1
  • 20
    • 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
  • 21
    • 4043089861 scopus 로고    scopus 로고
    • Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss
    • Li R., Greinwald Jr. J.H., Yang L., Choo D.I., Wenstrup R.J., and Guan M.X. Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss. J. Med. Genet. 41 (2004) 615-620
    • (2004) J. Med. Genet. , vol.41 , pp. 615-620
    • Li, R.1    Greinwald Jr., J.H.2    Yang, L.3    Choo, D.I.4    Wenstrup, R.J.5    Guan, M.X.6
  • 22
    • 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
    • 0024352214 scopus 로고
    • The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: cryptic signals revealed by comparative analysis between vertebrates
    • Gadaleta G., Pepe G., De C.G., Quagliariello C., Sbisa E., and Saccone C. The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: cryptic signals revealed by comparative analysis between vertebrates. J. Mol. Evol. 28 (1989) 497-516
    • (1989) J. Mol. Evol. , vol.28 , pp. 497-516
    • Gadaleta, G.1    Pepe, G.2    De, C.G.3    Quagliariello, C.4    Sbisa, E.5    Saccone, C.6
  • 25
    • 0021876634 scopus 로고
    • The complete nucleotide sequence of the Xenopus laevis mitochondrial genome
    • Roe B.A., Ma D.P., Wilson R.K., and Wong J.F. The complete nucleotide sequence of the Xenopus laevis mitochondrial genome. J. Biol. Chem. 260 (1985) 9759-9774
    • (1985) J. Biol. Chem. , vol.260 , pp. 9759-9774
    • Roe, B.A.1    Ma, D.P.2    Wilson, R.K.3    Wong, J.F.4
  • 26
    • 0347003512 scopus 로고    scopus 로고
    • Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family
    • Zhao H., Li R., Wang Q., Yan Q., Deng J.H., Han D., Bai Y., Young W.Y., and Guan M.X. Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am. J. Hum. Genet. 74 (2004) 139-152
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 139-152
    • Zhao, H.1    Li, R.2    Wang, Q.3    Yan, Q.4    Deng, J.H.5    Han, D.6    Bai, Y.7    Young, W.Y.8    Guan, M.X.9
  • 27
    • 8844236333 scopus 로고    scopus 로고
    • Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation
    • Zhao L., Young W.Y., Li R., Wang Q., Qian Y., and Guan M.X. Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation. Biochem. Biophys. Res. Commun. 325 (2004) 1503-1508
    • (2004) Biochem. Biophys. Res. Commun. , vol.325 , pp. 1503-1508
    • Zhao, L.1    Young, W.Y.2    Li, R.3    Wang, Q.4    Qian, Y.5    Guan, M.X.6
  • 28
    • 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
  • 29
    • 33644879973 scopus 로고    scopus 로고
    • Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations
    • Yan Q., Bykhovskaya Y., Li R., Mengesha E., Shohat M., Estivill X., Fischel-Ghodsian N., and Guan M.X. Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations. Biochem. Biophys. Res. Commun. 342 (2006) 1130-1136
    • (2006) Biochem. Biophys. Res. Commun. , vol.342 , pp. 1130-1136
    • Yan, Q.1    Bykhovskaya, Y.2    Li, R.3    Mengesha, E.4    Shohat, M.5    Estivill, X.6    Fischel-Ghodsian, N.7    Guan, M.X.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.