메뉴 건너뛰기




Volumn 24, Issue 4, 2003, Pages 303-313

Mitochondrial deafness

Author keywords

[No Author keywords available]

Indexed keywords

AMINOGLYCOSIDE ANTIBIOTIC AGENT; DNA;

EID: 0041778318     PISSN: 01960202     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.AUD.0000079802.82344.B5     Document Type: Review
Times cited : (102)

References (98)
  • 2
    • 0026726965 scopus 로고
    • Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochrome c oxidase
    • Arnaudo, E., Hirano, M., Seelan, R. S., Milatovich, A., Hsieh, C., Fabriscke, G. M., Grossman, L. I., Francke, U., & Schon, E. A. (1992). Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochrome c oxidase. Gene, 119, 299-305.
    • (1992) Gene , vol.119 , pp. 299-305
    • Arnaudo, E.1    Hirano, M.2    Seelan, R.S.3    Milatovich, A.4    Hsieh, C.5    Fabriscke, G.M.6    Grossman, L.I.7    Francke, U.8    Schon, E.A.9
  • 4
    • 0043281577 scopus 로고    scopus 로고
    • Mouse models for deafness lessons for the human inner ear and hearing loss
    • Avraham, K. B. (2003). Mouse models for deafness lessons for the human inner ear and hearing loss. Ear and Hearing, 24.
    • (2003) Ear and Hearing , pp. 24
    • Avraham, K.B.1
  • 5
    • 0029003553 scopus 로고
    • Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness
    • Bacino, C. M., Prezant, T. R., Bu, X., Fournier, P., & Fischel-Ghodsian, N. (1995). Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. Pharmacogenetics, 5, 165-172.
    • (1995) Pharmacogenetics , vol.5 , pp. 165-172
    • Bacino, C.M.1    Prezant, T.R.2    Bu, X.3    Fournier, P.4    Fischel-Ghodsian, N.5
  • 6
    • 0030849125 scopus 로고    scopus 로고
    • Mitochondrial DNA deletions associated with aging an dpossibly presbycusis: A human archival temporal bone study
    • Bai, U., Seidman, M. D., Hinojosa, R., Quirk, W. S. (1997). Mitochondrial DNA deletions associated with aging an dpossibly presbycusis: A human archival temporal bone study. American Journal of Otology, 18, 449-453.
    • (1997) American Journal of Otology , vol.18 , pp. 449-453
    • Bai, U.1    Seidman, M.D.2    Hinojosa, R.3    Quirk, W.S.4
  • 9
    • 0029832209 scopus 로고    scopus 로고
    • Audio-vestibular 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., Arnos, K. S., Fischel-Ghodsian, N., Shohat, M., & Elidan, J. (1996). Audio-vestibular findings in patients with deafness caused by a mitochondrial susceptibility mutation and precipitated by an inherited nuclear mutation or aminoglycosides. Archives of Otolaryngology-Head and Neck Surgery, 122, 1001-1004.
    • (1996) Archives of Otolaryngology-Head and Neck Surgery , vol.122 , pp. 1001-1004
    • Braverman, I.1    Jaber, L.2    Levi, H.3    Adelman, C.4    Arnos, K.S.5    Fischel-Ghodsian, N.6    Shohat, M.7    Elidan, J.8
  • 10
    • 0027275218 scopus 로고
    • Wolfram syndrome: A mitochondrial-mediated disorder?
    • Bu, X., & Rotter, J. I. (1993). Wolfram syndrome: A mitochondrial-mediated disorder? Lancet, 342, 598-600.
    • (1993) Lancet , vol.342 , pp. 598-600
    • Bu, X.1    Rotter, J.I.2
  • 11
    • 0033784773 scopus 로고    scopus 로고
    • Audiological and molecular findings in a large family with maternally inherited sensorineural hearing loss
    • Bu, X. K., Ying, G., & Yan, M. (2000). Audiological and molecular findings in a large family with maternally inherited sensorineural hearing loss. Journal of Audiological Medicine, 9, 61-69.
    • (2000) Journal of Audiological Medicine , vol.9 , pp. 61-69
    • Bu, X.K.1    Ying, G.2    Yan, M.3
  • 17
    • 0031900991 scopus 로고    scopus 로고
    • The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics
    • Chomyn, A. (1998). The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics. American Journal of Human Genetics, 62, 745-751.
    • (1998) American Journal of Human Genetics , vol.62 , pp. 745-751
    • Chomyn, A.1
  • 18
    • 0017764306 scopus 로고
    • Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder and other abnormalities (Wolfram syndrome): A review of 88 cases from the literature with personal observations on 3 new patients
    • Cremers, C. W. R. J., Wijdeveld, P. G. A. B., Pinckers, A. J. L. G. (1977). Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder and other abnormalities (Wolfram syndrome): A review of 88 cases from the literature with personal observations on 3 new patients. Acta Paediatrica Scandinavica, 264(Suppl.), 1-16.
    • (1977) Acta Paediatrica Scandinavica , vol.264 , Issue.SUPPL. , pp. 1-16
    • Cremers, C.W.R.J.1    Wijdeveld, P.G.A.B.2    Pinckers, A.J.L.G.3
  • 19
    • 0343852695 scopus 로고    scopus 로고
    • Two large Spanish pedigrees with non-syndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12SrRNA gene: Evidence of heteroplasmy
    • El-Schahawi, M., deMunain, L., Sarrazin, A. M., Shanske, A. L., Basirico, M., Shanske, S., & DiMauro, S. (1997). Two large Spanish pedigrees with non-syndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12SrRNA gene: Evidence of heteroplasmy. Neurology, 48, 453-456.
    • (1997) Neurology , vol.48 , pp. 453-456
    • El-Schahawi, M.1    DeMunain, L.2    Sarrazin, A.M.3    Shanske, A.L.4    Basirico, M.5    Shanske, S.6    DiMauro, S.7
  • 22
    • 0032191045 scopus 로고    scopus 로고
    • Mitochondrial RNA processing and translation - Link between mitochondrial mutations and hearing loss?
    • Fischel-Ghodsian, N. (1998). Mitochondrial RNA processing and translation - link between mitochondrial mutations and hearing loss? Molecular Genetics and Metabolism, 65, 97-104.
    • (1998) Molecular Genetics and Metabolism , vol.65 , pp. 97-104
    • Fischel-Ghodsian, N.1
  • 23
    • 0033058511 scopus 로고    scopus 로고
    • Mitochondrial deafness mutations reviewed
    • Fischel-Ghodsian, N. (1999). Mitochondrial deafness mutations reviewed. Human Mutation, 13, 261-270.
    • (1999) Human Mutation , vol.13 , pp. 261-270
    • Fischel-Ghodsian, N.1
  • 24
    • 0041753833 scopus 로고    scopus 로고
    • Hearing loss and mitochondrial DNA mutations: Clinical implications and biological lessons
    • B. Keats, A. N. Popper, R. R. Fay (Eds.). New York: Springer Verlag
    • Fischel-Ghodsian, N. (2002). Hearing loss and mitochondrial DNA mutations: Clinical implications and biological lessons. In B. Keats, A. N. Popper, R. R. Fay (Eds.), Genetics and Auditory Disorders of the Springer Handbook of Auditory Research (pp. 228-246). New York: Springer Verlag.
    • (2002) Genetics and Auditory Disorders of the Springer Handbook of Auditory Research , pp. 228-246
    • Fischel-Ghodsian, N.1
  • 31
    • 0023226742 scopus 로고
    • Cross-linking of streptomycin to the 16S ribosomal RNA of Escherichia coli
    • Gravel, M., Melancon, P., & Brakier-Gingras, L. (1987). Cross-linking of streptomycin to the 16S ribosomal RNA of Escherichia coli. Biochemistry, 26, 6227-6232.
    • (1987) Biochemistry , vol.26 , pp. 6227-6232
    • Gravel, M.1    Melancon, P.2    Brakier-Gingras, L.3
  • 32
    • 0033858002 scopus 로고    scopus 로고
    • A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity
    • Guan, M.-X., Attardi, G., & Fischel-Ghodsian, N. (2000). A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Human Molecular Genetics, 9, 1787-1793.
    • (2000) Human Molecular Genetics , vol.9 , pp. 1787-1793
    • Guan, M.-X.1    Attardi, G.2    Fischel-Ghodsian, N.3
  • 33
    • 0031682732 scopus 로고    scopus 로고
    • Deafness-associated mtDNA 7445 mutation has pleiotropic effects, affecting tRNASer(UCN) precursor processing and expression of NADH dehydrogenase ND6 subunit gene
    • Guan, M., Enriquez, J. A., Fischel-Ghodsian, N., Puranam, R. S., Lin, C., Maw, M., & Attardi, G. (1998). Deafness-associated mtDNA 7445 mutation has pleiotropic effects, affecting tRNASer(UCN) precursor processing and expression of NADH dehydrogenase ND6 subunit gene. Molecular Cell Biology, 18, 5868-5879.
    • (1998) Molecular Cell Biology , vol.18 , pp. 5868-5879
    • Guan, M.1    Enriquez, J.A.2    Fischel-Ghodsian, N.3    Puranam, R.S.4    Lin, C.5    Maw, M.6    Attardi, G.7
  • 34
    • 0030016359 scopus 로고    scopus 로고
    • Biochemical evidence for nuclear gene involvement in phenotype of nonsyndromic deafness associated with mitochondrial 12S rRNA mutation
    • Guan, M., Fischel-Ghodsian, N., & Attardi G. (1996). Biochemical evidence for nuclear gene involvement in phenotype of nonsyndromic deafness associated with mitochondrial 12S rRNA mutation. Human Molecular Genetics, 5, 963-972.
    • (1996) Human Molecular Genetics , vol.5 , pp. 963-972
    • Guan, M.1    Fischel-Ghodsian, N.2    Attardi, G.3
  • 35
    • 0035869153 scopus 로고    scopus 로고
    • Transmitochondrial cell lines carrying the deafness-associated mitochondrial 12S rRNA mutation reveal a determinant role of nuclear background in the biochemical phenotype
    • Guan, M.-X., Fischel-Ghodsian, N., & Attardi G. (2001). Transmitochondrial cell lines carrying the deafness-associated mitochondrial 12S rRNA mutation reveal a determinant role of nuclear background in the biochemical phenotype. Human Molecular Genetics, 10, 573-580.
    • (2001) Human Molecular Genetics , vol.10 , pp. 573-580
    • Guan, M.-X.1    Fischel-Ghodsian, N.2    Attardi, G.3
  • 37
    • 0030827973 scopus 로고    scopus 로고
    • Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness
    • Hamasaki, K., & Rando, R. R. (1997). Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness. Biochemistry, 36, 12323-12328.
    • (1997) Biochemistry , vol.36 , pp. 12323-12328
    • Hamasaki, K.1    Rando, R.R.2
  • 38
    • 0030837435 scopus 로고    scopus 로고
    • Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: A family study of A3243G mutation mitochondrial heteroplasmy
    • Harrison, T. J., Boles, R. G., Johnson, D. R., LeBlond, C., & Wong, L. J. (1997). Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: A family study of A3243G mutation mitochondrial heteroplasmy. American Journal of Ophthalmology, 124, 217-221.
    • (1997) American Journal of Ophthalmology , vol.124 , pp. 217-221
    • Harrison, T.J.1    Boles, R.G.2    Johnson, D.R.3    LeBlond, C.4    Wong, L.J.5
  • 39
    • 0023918234 scopus 로고
    • Pharmacokinetics of aminoglycoside antibiotics in blood, inner-ear fluids and tissues and their relationship to ototoxicity
    • Henley, C. M., & Schacht, J. (1988). Pharmacokinetics of aminoglycoside antibiotics in blood, inner-ear fluids and tissues and their relationship to ototoxicity. Audiology, 27, 137-146.
    • (1988) Audiology , vol.27 , pp. 137-146
    • Henley, C.M.1    Schacht, J.2
  • 40
    • 0024360825 scopus 로고
    • Unique inheritance of streptomycin-induced deafness
    • Higashi, K. (1989). Unique inheritance of streptomycin-induced deafness. Clinical Genetics, 35, 433-436.
    • (1989) Clinical Genetics , vol.35 , pp. 433-436
    • Higashi, K.1
  • 41
    • 0027932137 scopus 로고
    • Mitochondrial gene mutations and human diseases: A prolegomenon
    • Howell, N. (1994). Mitochondrial gene mutations and human diseases: A prolegomenon. American Journal of Human Genetics, 55, 219-224.
    • (1994) American Journal of Human Genetics , vol.55 , pp. 219-224
    • Howell, N.1
  • 44
    • 0033833303 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in the tRNASer-(UCN) gene causing maternally inherited hearing impairment
    • Hutchin, T. P., Parker, M. J., Young, I. D., Davis, A., & Mueller, R. F. (2000). Mitochondrial DNA mutations in the tRNASer-(UCN) gene causing maternally inherited hearing impairment. Journal of Medical Genetics, 37, 692-694.
    • (2000) Journal of Medical Genetics , vol.37 , pp. 692-694
    • Hutchin, T.P.1    Parker, M.J.2    Young, I.D.3    Davis, A.4    Mueller, R.F.5
  • 45
    • 0042254465 scopus 로고    scopus 로고
    • Identification of a novel mtDNA mutation in the tRNAthr gene in a family with hearing impairment and cutaneous hypopigmentation with an albinoid appearance
    • Bethesda, MD, Oct. 4-7
    • Hutchin, T. P., Thompson, K. R., Read, A. P., & Mueller, R. F. (2001). Identification of a novel mtDNA mutation in the tRNAthr gene in a family with hearing impairment and cutaneous hypopigmentation with an albinoid appearance. The Molecular Biology of Hearing and Deafness. Bethesda, MD, Oct. 4-7.
    • (2001) The Molecular Biology of Hearing and Deafness
    • Hutchin, T.P.1    Thompson, K.R.2    Read, A.P.3    Mueller, R.F.4
  • 49
    • 0032531250 scopus 로고    scopus 로고
    • Cloning and characterization of the human mitochondrial ribosomal S12 gene
    • Johnson, D. F., Hamon, M., & Fischel-Ghodsian, N. (1998). Cloning and characterization of the human mitochondrial ribosomal S12 gene. Genomics, 52, 363-368.
    • (1998) Genomics , vol.52 , pp. 363-368
    • Johnson, D.F.1    Hamon, M.2    Fischel-Ghodsian, N.3
  • 51
    • 0034537965 scopus 로고    scopus 로고
    • A major gene on chromosome 10 affecting age-related hearing loss is common to at least ten inbred strains of mice
    • Johnson, K. R., Zheng, Q. Y., & Erway, L. C. (2000). A major gene on chromosome 10 affecting age-related hearing loss is common to at least ten inbred strains of mice. Genomics, 70, 171-180.
    • (2000) Genomics , vol.70 , pp. 171-180
    • Johnson, K.R.1    Zheng, Q.Y.2    Erway, L.C.3
  • 55
    • 0027306824 scopus 로고
    • Presence of mitochondrial large ribosomal RNA outside mitochondria in germ plasm of Drosophila melanogaster
    • Kobayashi, S., Amikura, R., & Okada, M. (1993). Presence of mitochondrial large ribosomal RNA outside mitochondria in germ plasm of Drosophila melanogaster. Science, 260, 1521-1524.
    • (1993) Science , vol.260 , pp. 1521-1524
    • Kobayashi, S.1    Amikura, R.2    Okada, M.3
  • 57
    • 0034116896 scopus 로고    scopus 로고
    • Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment
    • Lehtonen, M. S., Uimonen, S., Hassinen, I. E., & Majama, K. (2000). Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment. European Journal of Human Genetics, 8, 315-318.
    • (2000) European Journal of Human Genetics , vol.8 , pp. 315-318
    • Lehtonen, M.S.1    Uimonen, S.2    Hassinen, I.E.3    Majama, K.4
  • 58
    • 0019908820 scopus 로고
    • Identification of the paromomycin-resistance mutation in the 15S rRNA gene of yeast mitochondria
    • Li, M., Tzagaloff, A., Underbrink-Lyon, K., & Martin, N. C. (1982). Identification of the paromomycin-resistance mutation in the 15S rRNA gene of yeast mitochondria. Journal of Biological Chemistry, 257, 5921-5928.
    • (1982) Journal of Biological Chemistry , vol.257 , pp. 5921-5928
    • Li, M.1    Tzagaloff, A.2    Underbrink-Lyon, K.3    Martin, N.C.4
  • 59
    • 0036837683 scopus 로고    scopus 로고
    • A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation
    • Li, X., & Guan, M. X. (2002). A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation. Molecular Cell Biology, 22, 7364-7374.
    • (2002) Molecular Cell Biology , vol.22 , pp. 7364-7374
    • Li, X.1    Guan, M.X.2
  • 60
    • 0037178851 scopus 로고    scopus 로고
    • Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of the deafness-associated mitochondrial 12S rRNA A1555G mutation
    • Li, X., Li, R., Lin, X., & Guan, M. X. (2002). Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of the deafness-associated mitochondrial 12S rRNA A1555G mutation. Journal of Biological Chemistry, 277, 27256-27264.
    • (2002) Journal of Biological Chemistry , vol.277 , pp. 27256-27264
    • Li, X.1    Li, R.2    Lin, X.3    Guan, M.X.4
  • 61
    • 0033912290 scopus 로고    scopus 로고
    • Mutations in the mitochondrial tRNASer(UCN) and in the GJB2 (Connexin26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 1ZS rRNA A1555G mutation
    • Lopez-Bigas, N., Rabionet, R., Martinez, E., Bravo, O., Girons, J., Borragan, A., Pellicer, M., Arbones, M. L., & Estivill, X. (2000). Mutations in the mitochondrial tRNASer(UCN) and in the GJB2 (Connexin26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 1ZS rRNA A1555G mutation. American Journal of Human Genetics, 66, 1465-1467.
    • (2000) American Journal of Human Genetics , vol.66 , pp. 1465-1467
    • Lopez-Bigas, N.1    Rabionet, R.2    Martinez, E.3    Bravo, O.4    Girons, J.5    Borragan, A.6    Pellicer, M.7    Arbones, M.L.8    Estivill, X.9
  • 62
    • 0029916599 scopus 로고    scopus 로고
    • Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree
    • Matthijs, G., Claes, S., Longo-Mbenza, B., & Cassiman, J.-J. (1996). Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree. European Journal of Human Genetics, 4, 46-51.
    • (1996) European Journal of Human Genetics , vol.4 , pp. 46-51
    • Matthijs, G.1    Claes, S.2    Longo-Mbenza, B.3    Cassiman, J.-J.4
  • 64
    • 0002543513 scopus 로고
    • Mitochondrial DNA mutations and human aging: Molecular biology, bioenergetics, and redox therapy
    • S. DiMauro & D. C. Wallace (Eds.). New York: Raven Press
    • Nagley, P., Zhang, C., Martinus, R. D., Vaillant, F., & Linnane, A. W. (1993). Mitochondrial DNA mutations and human aging: Molecular biology, bioenergetics, and redox therapy. In S. DiMauro & D. C. Wallace (Eds.), Mitochondrial DNA in Human Pathology. New York: Raven Press.
    • (1993) Mitochondrial DNA in Human Pathology
    • Nagley, P.1    Zhang, C.2    Martinus, R.D.3    Vaillant, F.4    Linnane, A.W.5
  • 66
    • 0030930127 scopus 로고    scopus 로고
    • Identification of a large scale mitochondrial DNA deletion in endocrinopathies and deafness: Report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively
    • Nicolino, M., Ferlin, T., Forest, M., Godinot, C., Carrier, H., David, M., Chatelain, P., & Mousson, B. (1997). Identification of a large scale mitochondrial DNA deletion in endocrinopathies and deafness: Report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively. Journal of Clinical Endocrinology and Metabolism, 82, 3063-3067.
    • (1997) Journal of Clinical Endocrinology and Metabolism , vol.82 , pp. 3063-3067
    • Nicolino, M.1    Ferlin, T.2    Forest, M.3    Godinot, C.4    Carrier, H.5    David, M.6    Chatelain, P.7    Mousson, B.8
  • 67
    • 0034056709 scopus 로고    scopus 로고
    • Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies
    • Nye, J. S., Hayes, E. A., Amendola, M., Vaughn, D., Charrow, J., McLone, D. G., Speer, M. C., Nance, W. E., & Pandya, A. (2000). Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies. Teratology, 61, 165-171.
    • (2000) Teratology , vol.61 , pp. 165-171
    • Nye, J.S.1    Hayes, E.A.2    Amendola, M.3    Vaughn, D.4    Charrow, J.5    McLone, D.G.6    Speer, M.C.7    Nance, W.E.8    Pandya, A.9
  • 68
    • 0027268052 scopus 로고
    • Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially non-insulin-dependent diabetics
    • Oka, Y., Katagiri, H., Yazaki, Y., Murase, T., & Kobayashi, T. (1993). Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially non-insulin-dependent diabetics. Lancet, 342, 527-528.
    • (1993) Lancet , vol.342 , pp. 527-528
    • Oka, Y.1    Katagiri, H.2    Yazaki, Y.3    Murase, T.4    Kobayashi, T.5
  • 72
    • 0028288558 scopus 로고
    • A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
    • Reid, F. M., Vernham, G. A., & Jacobs, H. T. (1994a). A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Human Mutation, 3, 243-247.
    • (1994) Human Mutation , vol.3 , pp. 243-247
    • Reid, F.M.1    Vernham, G.A.2    Jacobs, H.T.3
  • 73
    • 0028094531 scopus 로고
    • Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness
    • Reid, F. M., Vernham, G. A., & Jacobs, H. T. (1994b). Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness. Human Molecular Genetics, 3, 1435-1436.
    • (1994) Human Molecular Genetics , vol.3 , pp. 1435-1436
    • Reid, F.M.1    Vernham, G.A.2    Jacobs, H.T.3
  • 75
    • 0031113339 scopus 로고    scopus 로고
    • Mitochondrial DNA [tRNA(Leu)(UUR)] in a southern Italian diabetic population
    • Rigoli, L., Di Benedetto, A., Romano, G., Corica, F., & Cucinotta, D. (1997). Mitochondrial DNA [tRNA(Leu)(UUR)] in a southern Italian diabetic population [letter]. Diabetes Care, 20, 674-675.
    • (1997) Diabetes Care , vol.20 , pp. 674-675
    • Rigoli, L.1    Di Benedetto, A.2    Romano, G.3    Corica, F.4    Cucinotta, D.5
  • 76
    • 0027526665 scopus 로고
    • Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300)
    • Rotig, A., Cormier, V., & Chatelain, P. (1993). Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). Journal of Clinical Investigation, 91, 1095-1098.
    • (1993) Journal of Clinical Investigation , vol.91 , pp. 1095-1098
    • Rotig, A.1    Cormier, V.2    Chatelain, P.3
  • 81
    • 0033395609 scopus 로고    scopus 로고
    • Oxidative phosphorylation disease diagnosis
    • Shoffner, J. M. (1999). Oxidative phosphorylation disease diagnosis. Seminars in Neurology, 19, 341-351.
    • (1999) Seminars in Neurology , vol.19 , pp. 341-351
    • Shoffner, J.M.1
  • 82
    • 0032942192 scopus 로고    scopus 로고
    • Aminoglycoside induced deafness in an Israeli Jewish family with a mitochondrial ribosomal RNA gene mutation
    • Shohat, M., Fischel-Ghodsian, N., Legum, C., & Halpern, G. J. (1999). Aminoglycoside induced deafness in an Israeli Jewish family with a mitochondrial ribosomal RNA gene mutation. American Journal of Otolaryngology, 20, 64-67.
    • (1999) American Journal of Otolaryngology , vol.20 , pp. 64-67
    • Shohat, M.1    Fischel-Ghodsian, N.2    Legum, C.3    Halpern, G.J.4
  • 84
    • 0021892944 scopus 로고
    • The nucleotide sequence of the 17S ribosomal RNA gene of Tetrahymena thermophila and the identification of point mutations resulting in resistance to the antibiotics paromomycin and hygromycin
    • Spangler, E. A., & Blackburn, E. H. (1985). The nucleotide sequence of the 17S ribosomal RNA gene of Tetrahymena thermophila and the identification of point mutations resulting in resistance to the antibiotics paromomycin and hygromycin. Journal of Biological Chemistry, 260, 6334-6340.
    • (1985) Journal of Biological Chemistry , vol.260 , pp. 6334-6340
    • Spangler, E.A.1    Blackburn, E.H.2
  • 85
    • 0002520417 scopus 로고
    • Animal models in the study of ototoxic hearing loss
    • S. A. Lerner, G. L. Matz, & J. E. Hawkins, Jr. (Eds.). Boston: Little, Brown and Company
    • Stebbins, W. C., McGinn, C. S., & Feitosa, A. G. (1981). Animal models in the study of ototoxic hearing loss. In S. A. Lerner, G. L. Matz, & J. E. Hawkins, Jr. (Eds.), Aminoglycoside Ototoxicity (pp. 5-25). Boston: Little, Brown and Company.
    • (1981) Aminoglycoside Ototoxicity , pp. 5-25
    • Stebbins, W.C.1    McGinn, C.S.2    Feitosa, A.G.3
  • 92
    • 0035016350 scopus 로고    scopus 로고
    • Hearing impairment in patients with 3243A->G mtDNA mutation: Phenotype and rate of progression
    • Uimonen, S., Moilanen, J. S., Sorri, M., Hassinen, I. E., & Majamaa, K. (2001). Hearing impairment in patients with 3243A->G mtDNA mutation: Phenotype and rate of progression. Human Genetics, 108, 284-9.
    • (2001) Human Genetics , vol.108 , pp. 284-289
    • Uimonen, S.1    Moilanen, J.S.2    Sorri, M.3    Hassinen, I.E.4    Majamaa, K.5
  • 93
    • 0031004773 scopus 로고    scopus 로고
    • Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation
    • Usami, S., Kasai, A. S., Shinkawa, H., Moeller, B., Kenyon, J. B., Kimberling, W. J. (1997). Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation. Laryngoscope, 107, 483-490.
    • (1997) Laryngoscope , vol.107 , pp. 483-490
    • Usami, S.1    Kasai, A.S.2    Shinkawa, H.3    Moeller, B.4    Kenyon, J.B.5    Kimberling, W.J.6
  • 97
    • 0026624980 scopus 로고
    • Diseases of the mitochondrial DNA
    • Wallace, D. C. (1992). Diseases of the mitochondrial DNA. Annual Review of Biochemistry, 61, 1175-1212.
    • (1992) Annual Review of Biochemistry , vol.61 , pp. 1175-1212
    • Wallace, D.C.1
  • 98
    • 0025781896 scopus 로고
    • H-2M3 encodes the MHC class I molecule presenting the maternally transmitted antigen of the mouse
    • Wang, C. R., Loveland, B. E., & Fischer-Lindahl, K. (1991). H-2M3 encodes the MHC class I molecule presenting the maternally transmitted antigen of the mouse. Cell, 66, 335-345.
    • (1991) Cell , vol.66 , pp. 335-345
    • Wang, C.R.1    Loveland, B.E.2    Fischer-Lindahl, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.