-
1
-
-
6344223665
-
The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool
-
Achilli A., Rengo C., Magri C., Battaglia V., Olivieri A., Scozzari R., Cruciani F., Zeviani M., Briem E., Carelli V., Moral P., Dugoujon J.M., Roostalu U., Loogväli E.L., Kivisild T., Bandelt H.J., Richards M., Villems R., Santachiara-Benerecetti A.S., Semino O., Torroni A. The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am. J. Hum. Genet. 2004, 75:910-918.
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 910-918
-
-
Achilli, A.1
Rengo, C.2
Magri, C.3
Battaglia, V.4
Olivieri, A.5
Scozzari, R.6
Cruciani, F.7
Zeviani, M.8
Briem, E.9
Carelli, V.10
Moral, P.11
Dugoujon, J.M.12
Roostalu, U.13
Loogväli, E.L.14
Kivisild, T.15
Bandelt, H.J.16
Richards, M.17
Villems, R.18
Santachiara-Benerecetti, A.S.19
Semino, O.20
Torroni, A.21
more..
-
2
-
-
0029003553
-
Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness
-
Bacino C., Prezant T.R., Bu X., Fournier P., Fischel-Ghodsian N. Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. Pharmacogenetics 1995, 5:165-172.
-
(1995)
Pharmacogenetics
, vol.5
, pp. 165-172
-
-
Bacino, C.1
Prezant, T.R.2
Bu, X.3
Fournier, P.4
Fischel-Ghodsian, N.5
-
3
-
-
48749093757
-
Molecular analysis of mitochondrial gene mutations in Korean patients with nonsyndromic hearing loss
-
Bae J.W., Lee K.Y., Choi S.Y., Lee S.H., Park H.J., Kim U.K. Molecular analysis of mitochondrial gene mutations in Korean patients with nonsyndromic hearing loss. Int. J. Mol. Med. 2008, 22:175-180.
-
(2008)
Int. J. Mol. Med.
, vol.22
, pp. 175-180
-
-
Bae, J.W.1
Lee, K.Y.2
Choi, S.Y.3
Lee, S.H.4
Park, H.J.5
Kim, U.K.6
-
4
-
-
38949209630
-
Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations
-
Ballana E., Govea N., de Cid R., Garcia C., Arribas C., Rosell J., Estivill X. Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations. Hum. Mutat. 2008, 29:248-257.
-
(2008)
Hum. Mutat.
, vol.29
, pp. 248-257
-
-
Ballana, E.1
Govea, N.2
de Cid, R.3
Garcia, C.4
Arribas, C.5
Rosell, J.6
Estivill, X.7
-
5
-
-
0000612435
-
Stable RNA modification
-
American Society for Microbiology, Washington, DC, F.C. Neidhardt, R. Curtiss, J.L. Ingraham, E.C.C. Lin, B.K. Low, B. Magasanik, W.S. Reznikoff, M. Riley, M. Schaechter, H.E. Umbarger (Eds.)
-
Björk G.R. Stable RNA modification. Escherichia coli and Salmonella: Cellular and Molecular Biology 1996, 861-886. American Society for Microbiology, Washington, DC. F.C. Neidhardt, R. Curtiss, J.L. Ingraham, E.C.C. Lin, B.K. Low, B. Magasanik, W.S. Reznikoff, M. Riley, M. Schaechter, H.E. Umbarger (Eds.).
-
(1996)
Escherichia coli and Salmonella: Cellular and Molecular Biology
, pp. 861-886
-
-
Björk, G.R.1
-
6
-
-
77953742045
-
Mutant A1555G mitochondrial 12S rRNA and aminoglycoside susceptibility
-
Bottger E.C., Qian Y., Guan M.-X. Mutant A1555G mitochondrial 12S rRNA and aminoglycoside susceptibility. Antimicrob. Agents Chemother. 2010, 54:3073-3075.
-
(2010)
Antimicrob. Agents Chemother.
, vol.54
, pp. 3073-3075
-
-
Bottger, E.C.1
Qian, Y.2
Guan, M.-X.3
-
7
-
-
0035449350
-
Translational misreading: a tRNA modification counteracts a +2 ribosomal frameshift
-
Brégeon D., Colot V., Miroslav M., Radman M., Taddei F. Translational misreading: a tRNA modification counteracts a +2 ribosomal frameshift. Genes Dev. 2001, 15:2295-2306.
-
(2001)
Genes Dev.
, vol.15
, pp. 2295-2306
-
-
Brégeon, D.1
Colot, V.2
Miroslav, M.3
Radman, M.4
Taddei, F.5
-
8
-
-
0026750843
-
Two-locus mitochondrial and nuclear gene models for mitochondrial disorders
-
Bu X., Yang H.Y., Shohat M., Rotter J.I. Two-locus mitochondrial and nuclear gene models for mitochondrial disorders. Genet. Epidemiol. 1992, 9:27-44.
-
(1992)
Genet. Epidemiol.
, vol.9
, pp. 27-44
-
-
Bu, X.1
Yang, H.Y.2
Shohat, M.3
Rotter, J.I.4
-
9
-
-
0032486097
-
Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation
-
Bykhovskaya Y., Shohat M., Ehrenman K., Johnson D., Hamon M., Cantor R.M., Aouizerat B., Bu X., Rotter J.I., Jaber L., Fischel-Ghodsian N. Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation. Am. J. Med. Genet. 1998, 77:421-426.
-
(1998)
Am. J. Med. Genet.
, vol.77
, pp. 421-426
-
-
Bykhovskaya, Y.1
Shohat, M.2
Ehrenman, K.3
Johnson, D.4
Hamon, M.5
Cantor, R.M.6
Aouizerat, B.7
Bu, X.8
Rotter, J.I.9
Jaber, L.10
Fischel-Ghodsian, N.11
-
10
-
-
0033911449
-
Candidate locus for a nuclear modifier gene for maternally inherited deafness
-
Bykhovskaya Y., Estivill X., Taylor K., Hang T., Hamon M., Casano R.A., Yang H., Rotter L., Shohat M., Fischel-Ghodsian N. Candidate locus for a nuclear modifier gene for maternally inherited deafness. Am. J. Hum. Genet. 2000, 66:1905-1910.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1905-1910
-
-
Bykhovskaya, Y.1
Estivill, X.2
Taylor, K.3
Hang, T.4
Hamon, M.5
Casano, R.A.6
Yang, H.7
Rotter, L.8
Shohat, M.9
Fischel-Ghodsian, N.10
-
11
-
-
8144221376
-
Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3
-
Bykhovskaya Y., Mengesha E., Wang D., Yang H., Estivill X., Shohat M., Fischel-Ghodsian N. Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. Mol. Genet. Metab. 2004, 83:199-206.
-
(2004)
Mol. Genet. Metab.
, vol.83
, pp. 199-206
-
-
Bykhovskaya, Y.1
Mengesha, E.2
Wang, D.3
Yang, H.4
Estivill, X.5
Shohat, M.6
Fischel-Ghodsian, N.7
-
12
-
-
0033573089
-
The Escherichia coli trmE (mnmE) gene, involved in tRNA modification, codes for an evolutionarily conserved GTPase with unusual biochemical properties
-
Cabedo H., Macian F., Villarroya M., Escudero J.C., Martinez-Vicente M., Knecht E., Armengod M.E. The Escherichia coli trmE (mnmE) gene, involved in tRNA modification, codes for an evolutionarily conserved GTPase with unusual biochemical properties. EMBO J. 1999, 18:7063-7076.
-
(1999)
EMBO J.
, vol.18
, pp. 7063-7076
-
-
Cabedo, H.1
Macian, F.2
Villarroya, M.3
Escudero, J.C.4
Martinez-Vicente, M.5
Knecht, E.6
Armengod, M.E.7
-
13
-
-
13044279515
-
Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications
-
Casano R.A., Johnson D.F., Bykhovskaya Y., Torricelli F., Bigozzi M., Fischel-Ghodsian N. Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications. Am. J. Otolaryngol. 1999, 20:151-156.
-
(1999)
Am. J. Otolaryngol.
, vol.20
, pp. 151-156
-
-
Casano, R.A.1
Johnson, D.F.2
Bykhovskaya, Y.3
Torricelli, F.4
Bigozzi, M.5
Fischel-Ghodsian, N.6
-
14
-
-
0001011923
-
The aminoglycosides
-
McGraw-Hill, New York, J.G. Hardman, L.E. Limbird, P.B. Molinoff, R.W. Ruddon, A. Gilman (Eds.)
-
Chamber H.F., Sande M.A. The aminoglycosides. The Pharmacological Basis of Therapeutic 1996, 1103-1221. McGraw-Hill, New York. 9th ed. J.G. Hardman, L.E. Limbird, P.B. Molinoff, R.W. Ruddon, A. Gilman (Eds.).
-
(1996)
The Pharmacological Basis of Therapeutic
, pp. 1103-1221
-
-
Chamber, H.F.1
Sande, M.A.2
-
15
-
-
34548499092
-
Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees
-
Chen J., Yang L., Yang A., Zhu Y., Zhao J., Sun D., Tao Z., Tang X., Wang J., Wang X., Lan J., Li W., Wu F., Yuan Q., Feng J., Wu C., Liao Z., Li Z., Greinwald J.H., Lu J., Guan M.X. Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees. Gene 2007, 401:4-11.
-
(2007)
Gene
, vol.401
, pp. 4-11
-
-
Chen, J.1
Yang, L.2
Yang, A.3
Zhu, Y.4
Zhao, J.5
Sun, D.6
Tao, Z.7
Tang, X.8
Wang, J.9
Wang, X.10
Lan, J.11
Li, W.12
Wu, F.13
Yuan, Q.14
Feng, J.15
Wu, C.16
Liao, Z.17
Li, Z.18
Greinwald, J.H.19
Lu, J.20
Guan, M.X.21
more..
-
16
-
-
43049108431
-
Mitochondrial ND5 T12338C, tRNACys T5802C, and tRNAThr G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees
-
Chen B., Sun D., Yang L., Zhang C., Yang A., Zhu Y., Zhao J., Chen Y., Guan M., Wang X., Li R., Tang X., Wang J., Tao Z., Lu J., Guan M.X. Mitochondrial ND5 T12338C, tRNACys T5802C, and tRNAThr G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees. Am. J. Med. Genet. 2008, 146A:1248-1258.
-
(2008)
Am. J. Med. Genet.
, vol.146 A
, pp. 1248-1258
-
-
Chen, B.1
Sun, D.2
Yang, L.3
Zhang, C.4
Yang, A.5
Zhu, Y.6
Zhao, J.7
Chen, Y.8
Guan, M.9
Wang, X.10
Li, R.11
Tang, X.12
Wang, J.13
Tao, Z.14
Lu, J.15
Guan, M.X.16
-
17
-
-
0032561194
-
MTO1 codes for a mitochondrial protein required for respiration in paromomycin-resistant mutants of Saccharomyces cerevisiae
-
Colby G., Wu M., Tzagoloff A. MTO1 codes for a mitochondrial protein required for respiration in paromomycin-resistant mutants of Saccharomyces cerevisiae. J. Biol. Chem. 1998, 273:27945-27952.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 27945-27952
-
-
Colby, G.1
Wu, M.2
Tzagoloff, A.3
-
18
-
-
29244487525
-
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness
-
Dai P., Liu X., Han D., Qian Y., Huang D., Yuan H., Li W., Yu F., Zhang R., Lin H., He Y., Yu Y., Sun Q., Qin H., Li R., Zhang X., Kang D., Cao J., Young W.Y., Guan M.X. Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness. Biochem. Biophys. Res. Commun. 2006, 340:194-199.
-
(2006)
Biochem. Biophys. Res. Commun.
, vol.340
, pp. 194-199
-
-
Dai, P.1
Liu, X.2
Han, D.3
Qian, Y.4
Huang, D.5
Yuan, H.6
Li, W.7
Yu, F.8
Zhang, R.9
Lin, H.10
He, Y.11
Yu, Y.12
Sun, Q.13
Qin, H.14
Li, R.15
Zhang, X.16
Kang, D.17
Cao, J.18
Young, W.Y.19
Guan, M.X.20
more..
-
19
-
-
0014429801
-
Misreading of ribonucleic acid code words induced by aminoglycoside antibiotics
-
Davis J., Davis B.D. Misreading of ribonucleic acid code words induced by aminoglycoside antibiotics. J. Biol. Chem. 1968, 243:3312-3316.
-
(1968)
J. Biol. Chem.
, vol.243
, pp. 3312-3316
-
-
Davis, J.1
Davis, B.D.2
-
20
-
-
0027218236
-
MSS1, a nuclear-encoded mitochondrial GTPase involved in the expression of COX1 subunit of cytochrome c oxidase
-
Decoster E., Vassal A., Faye G. MSS1, a nuclear-encoded mitochondrial GTPase involved in the expression of COX1 subunit of cytochrome c oxidase. J. Mol. Biol. 1993, 232:79-88.
-
(1993)
J. Mol. Biol.
, vol.232
, pp. 79-88
-
-
Decoster, E.1
Vassal, A.2
Faye, G.3
-
21
-
-
0042828920
-
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss
-
del Castillo F.J., Rodriguez-Ballesteros M., Martin Y., Arellano B., Gallo-Teran J., Morales-Angulo C., Ramirez-Camacho R., Cruz Tapia M., Solanellas J., Martinez-Conde A., Villamar M., Moreno-Pelayo M.A., Moreno F., del Castillo I. Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. J. Med. Genet. 2003, 40:632-636.
-
(2003)
J. Med. Genet.
, vol.40
, pp. 632-636
-
-
del Castillo, F.J.1
Rodriguez-Ballesteros, M.2
Martin, Y.3
Arellano, B.4
Gallo-Teran, J.5
Morales-Angulo, C.6
Ramirez-Camacho, R.7
Cruz Tapia, M.8
Solanellas, J.9
Martinez-Conde, A.10
Villamar, M.11
Moreno-Pelayo, M.A.12
Moreno, F.13
del Castillo, I.14
-
23
-
-
17344365276
-
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides
-
Estivill X., Govea N., Barcelo A., Perello E., Badenas C., Romero E., Moral L., Scozzari R., D'Urbano L., Zeviani M., Torroni A. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am. J. Hum. Genet. 1998, 62:27-35.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 27-35
-
-
Estivill, X.1
Govea, N.2
Barcelo, A.3
Perello, E.4
Badenas, C.5
Romero, E.6
Moral, L.7
Scozzari, R.8
D'Urbano, L.9
Zeviani, M.10
Torroni, A.11
-
24
-
-
13544261687
-
Genetic factors in aminoglycoside toxicity
-
Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Pharmacogenomics 2005, 6:27-36.
-
(2005)
Pharmacogenomics
, vol.6
, pp. 27-36
-
-
Fischel-Ghodsian, N.1
-
25
-
-
0027515721
-
Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity
-
Fischel-Ghodsian N., Prezant T.R., Bu X., Oztas S. Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity. Am. J. Otolaryng 1993, 4:399-403.
-
(1993)
Am. J. Otolaryng
, vol.4
, pp. 399-403
-
-
Fischel-Ghodsian, N.1
Prezant, T.R.2
Bu, X.3
Oztas, S.4
-
26
-
-
0013084592
-
Human mitochondrial tRNAs in health and disease
-
Florentz C., Sohm B., Tryoen-Toth P., Putz J., Sissler M. Human mitochondrial tRNAs in health and disease. Cell. Mol. Life Sci. 2003, 60:1356-1375.
-
(2003)
Cell. Mol. Life Sci.
, vol.60
, pp. 1356-1375
-
-
Florentz, C.1
Sohm, B.2
Tryoen-Toth, P.3
Putz, J.4
Sissler, M.5
-
27
-
-
0032571306
-
Binding of neomycin-class aminoglycoside antibiotics to A-site of 16S rRNA
-
Fourmy D., Recht M.I., Puglisi J.D. Binding of neomycin-class aminoglycoside antibiotics to A-site of 16S rRNA. J. Mol. Biol. 1998, 277:347-362.
-
(1998)
J. Mol. Biol.
, vol.277
, pp. 347-362
-
-
Fourmy, D.1
Recht, M.I.2
Puglisi, J.D.3
-
29
-
-
33745043245
-
Prevalence of mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity
-
Guan M.X. Prevalence of mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. Volta Rev. 2005, 105:211-237.
-
(2005)
Volta Rev.
, vol.105
, pp. 211-237
-
-
Guan, M.X.1
-
30
-
-
0030016359
-
Biochemical evidence for nuclear gene involvement in phenotype of nonsyndromic deafness associated with mitochondrial 12S rRNA mutation
-
Guan M.X., Fischel-Ghodsian N., Attardi G. Biochemical evidence for nuclear gene involvement in phenotype of nonsyndromic deafness associated with mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 1996, 5:963-971.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 963-971
-
-
Guan, M.X.1
Fischel-Ghodsian, N.2
Attardi, G.3
-
31
-
-
0033858002
-
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity
-
Guan M.X., Fischel-Ghodsian N., Attardi G. A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Hum. Mol. Genet. 2000, 9:1787-1793.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1787-1793
-
-
Guan, M.X.1
Fischel-Ghodsian, N.2
Attardi, G.3
-
32
-
-
0035869153
-
Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation
-
Guan M.X., Fischel-Ghodsian N., Attardi G. Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 2001, 10:573-580.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 573-580
-
-
Guan, M.X.1
Fischel-Ghodsian, N.2
Attardi, G.3
-
33
-
-
33746559647
-
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations
-
Guan M.X., Yan Q., Li X., Bykhovskaya Y., Gallo-Teran J., Hajek P., Umeda N., Zhao H., Garrido G., Mengesha E., Suzuki T., del Castillo I., Peters J.L., Li R., Qian Y., Wang X., Ballana E., Shohat M., Lu J., Estivill X., Watanabe K., Fischel-Ghodsian N. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. Am. J. Hum. Genet. 2006, 79:291-302.
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 291-302
-
-
Guan, M.X.1
Yan, Q.2
Li, X.3
Bykhovskaya, Y.4
Gallo-Teran, J.5
Hajek, P.6
Umeda, N.7
Zhao, H.8
Garrido, G.9
Mengesha, E.10
Suzuki, T.11
del Castillo, I.12
Peters, J.L.13
Li, R.14
Qian, Y.15
Wang, X.16
Ballana, E.17
Shohat, M.18
Lu, J.19
Estivill, X.20
Watanabe, K.21
Fischel-Ghodsian, N.22
more..
-
34
-
-
0030827973
-
Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism, which causes aminoglycoside-induced deafness
-
Hamasaki K., Rando R.R. Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism, which causes aminoglycoside-induced deafness. Biochemistry 1997, 36:12323-12328.
-
(1997)
Biochemistry
, vol.36
, pp. 12323-12328
-
-
Hamasaki, K.1
Rando, R.R.2
-
35
-
-
34247098543
-
The mitochondrial tRNAAla T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss
-
Han D., Dai P., Zhu Q., Liu X., Huang D., Yuan Y., Yuan H., Wang X., Qian Y., Young W.Y., Guan M.X. The mitochondrial tRNAAla T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss. Biochem. Biophys. Res. Commun. 2007, 357:554-560.
-
(2007)
Biochem. Biophys. Res. Commun.
, vol.357
, pp. 554-560
-
-
Han, D.1
Dai, P.2
Zhu, Q.3
Liu, X.4
Huang, D.5
Yuan, Y.6
Yuan, H.7
Wang, X.8
Qian, Y.9
Young, W.Y.10
Guan, M.X.11
-
36
-
-
0023918234
-
Pharmacokinetics of aminoglycoside antibiotics in blood, inner ear fluids and their relationship to ototoxicity
-
Henley C.M., Schacht J. Pharmacokinetics of aminoglycoside antibiotics in blood, inner ear fluids and their relationship to ototoxicity. Audiology 1988, 27:137-146.
-
(1988)
Audiology
, vol.27
, pp. 137-146
-
-
Henley, C.M.1
Schacht, J.2
-
37
-
-
0024360825
-
Unique inheritance of streptomycin-induced deafness
-
Higashi K. Unique inheritance of streptomycin-induced deafness. Clin. Genet. 1989, 35:433-436.
-
(1989)
Clin. Genet.
, vol.35
, pp. 433-436
-
-
Higashi, K.1
-
38
-
-
42149087058
-
Mitochondrial deafness alleles confer misreading of the genetic code
-
Hobbie S.N., Bruell C.M., Akshay S., Kalapala S.K., Shcherbakov D., Böttger E.C. Mitochondrial deafness alleles confer misreading of the genetic code. Proc. Natl Acad. Sci. USA 2008, 105(105):3244-3249.
-
(2008)
Proc. Natl Acad. Sci. USA
, vol.105
, Issue.105
, pp. 3244-3249
-
-
Hobbie, S.N.1
Bruell, C.M.2
Akshay, S.3
Kalapala, S.K.4
Shcherbakov, D.5
Böttger, E.C.6
-
39
-
-
58549117857
-
Genetic analysis of interactions with eukaryotic rRNA identify the mitoribosome as target in aminoglycoside ototoxicity
-
Hobbie S.N., Akshay S., Kalapala S.K., Bruell C.M., Shcherbakov D., Bottger E.C. Genetic analysis of interactions with eukaryotic rRNA identify the mitoribosome as target in aminoglycoside ototoxicity. Proc. Natl Acad. Sci. USA 2008, 105:20888-20893.
-
(2008)
Proc. Natl Acad. Sci. USA
, vol.105
, pp. 20888-20893
-
-
Hobbie, S.N.1
Akshay, S.2
Kalapala, S.K.3
Bruell, C.M.4
Shcherbakov, D.5
Bottger, E.C.6
-
40
-
-
0025980075
-
Genetic aspects of antibiotic induced deafness: mitochondrial inheritance
-
Hu D.N., Qui W.Q., Wu B.T., Fang L.Z., Gu Y.P., Zhang Q.H., Yan J.H., Ding Y.Q., Wong H. Genetic aspects of antibiotic induced deafness: mitochondrial inheritance. J. Med. Genet. 1991, 28:79-83.
-
(1991)
J. Med. Genet.
, vol.28
, pp. 79-83
-
-
Hu, D.N.1
Qui, W.Q.2
Wu, B.T.3
Fang, L.Z.4
Gu, Y.P.5
Zhang, Q.H.6
Yan, J.H.7
Ding, Y.Q.8
Wong, H.9
-
41
-
-
0027218979
-
A molecular basis for human hypersensitivity to aminoglycoside antibiotics
-
Hutchin T., Haworth I., Higashi K., Fischel-Ghodsian N., Stoneking M., Saha N., Arnos C., Cortopassi G. A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucleic Acids Res. 1993, 21:4174-4179.
-
(1993)
Nucleic Acids Res.
, vol.21
, pp. 4174-4179
-
-
Hutchin, T.1
Haworth, I.2
Higashi, K.3
Fischel-Ghodsian, N.4
Stoneking, M.5
Saha, N.6
Arnos, C.7
Cortopassi, G.8
-
42
-
-
19944432928
-
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment
-
Jacobs H.T., Hutchin T.P., Käppi T., Gillies G., Minkkinen K., Walker J., Thompson K., Rovio A.T., Carella M., Melchionda S., Zelante L., Gasparini P., Pyykkö I., Shah Z.H., Zeviani M., Mueller R.F. Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur. J. Hum. Genet. 2005, 13:26-33.
-
(2005)
Eur. J. Hum. Genet.
, vol.13
, pp. 26-33
-
-
Jacobs, H.T.1
Hutchin, T.P.2
Käppi, T.3
Gillies, G.4
Minkkinen, K.5
Walker, J.6
Thompson, K.7
Rovio, A.T.8
Carella, M.9
Melchionda, S.10
Zelante, L.11
Gasparini, P.12
Pyykkö, I.13
Shah, Z.H.14
Zeviani, M.15
Mueller, R.F.16
-
43
-
-
0037417771
-
MnmA and IscS are required for in vitro 2-thiouridine biosynthesis in Escherichia coli
-
Kambampati R., Lauhon C.T. MnmA and IscS are required for in vitro 2-thiouridine biosynthesis in Escherichia coli. Biochemistry 2003, 42:1109-1117.
-
(2003)
Biochemistry
, vol.42
, pp. 1109-1117
-
-
Kambampati, R.1
Lauhon, C.T.2
-
44
-
-
54949102718
-
Mutation analysis of mitochondrial DNA 12S rRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients
-
Konings A., Van Camp G., Goethals A., Van Eyken E., Vandevelde A., Ben Azza J., Peeters N., Wuyts W., Smeets H., Van Laer L. Mutation analysis of mitochondrial DNA 12S rRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients. Mitochondrion 2008, 8:377-382.
-
(2008)
Mitochondrion
, vol.8
, pp. 377-382
-
-
Konings, A.1
Van Camp, G.2
Goethals, A.3
Van Eyken, E.4
Vandevelde, A.5
Ben Azza, J.6
Peeters, N.7
Wuyts, W.8
Smeets, H.9
Van Laer, L.10
-
45
-
-
35548963935
-
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip
-
Leveque M., Marlin S., Jonard L., Procaccio V., Reynier P., Amati-Bonneau P., Baulande S., Pierron D., Lacombe D., Duriez F., Francannet C., Mom T., Journel H., Catros H., Drouin-Garraud V., Obstoy M.F., Dollfus H., Eliot M.M., Faivre L., Duvillard C., Couderc R., Garabedian E.N., Petit C., Feldmann D., Denoyelle F. Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip. Eur. J. Hum. Genet. 2007, 15:1145-1155.
-
(2007)
Eur. J. Hum. Genet.
, vol.15
, pp. 1145-1155
-
-
Leveque, M.1
Marlin, S.2
Jonard, L.3
Procaccio, V.4
Reynier, P.5
Amati-Bonneau, P.6
Baulande, S.7
Pierron, D.8
Lacombe, D.9
Duriez, F.10
Francannet, C.11
Mom, T.12
Journel, H.13
Catros, H.14
Drouin-Garraud, V.15
Obstoy, M.F.16
Dollfus, H.17
Eliot, M.M.18
Faivre, L.19
Duvillard, C.20
Couderc, R.21
Garabedian, E.N.22
Petit, C.23
Feldmann, D.24
Denoyelle, F.25
more..
-
46
-
-
0036837683
-
A human mitochondrial GTP binding protein related to tRNA modification may modulate the phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation
-
Li X., Guan M.X. A human mitochondrial GTP binding protein related to tRNA modification may modulate the phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation. Mol. Cell. Biol. 2002, 22:7701-7711.
-
(2002)
Mol. Cell. Biol.
, vol.22
, pp. 7701-7711
-
-
Li, X.1
Guan, M.X.2
-
47
-
-
0037178851
-
Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12S rRNA A1555G mutation
-
Li X., Li R., Lin X., Guan M.X. Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12S rRNA A1555G mutation. J. Biol. Chem. 2002, 277:27256-27264.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 27256-27264
-
-
Li, X.1
Li, R.2
Lin, X.3
Guan, M.X.4
-
48
-
-
0344167734
-
Cosegregation of C-insertion at position 961 with A1555G mutation of 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., Guan M.X. Cosegregation of C-insertion at position 961 with A1555G mutation of mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss. Am. J. Med. Genet. 2004, 124A:113-117.
-
(2004)
Am. J. Med. Genet.
, vol.124 A
, 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
-
49
-
-
4043089861
-
Molecular analysis of mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with nonsyndromic hearing loss
-
Li R., Greinwald J.H., Yang L., Choo D.I., Wenstrup R.J., Guan M.X. Molecular analysis of mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with nonsyndromic hearing loss. J. Med. Genet. 2004, 41:615-620.
-
(2004)
J. Med. Genet.
, vol.41
, pp. 615-620
-
-
Li, R.1
Greinwald, J.H.2
Yang, L.3
Choo, D.I.4
Wenstrup, R.J.5
Guan, M.X.6
-
50
-
-
1842678658
-
Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness
-
Li X., Fischel-Ghodsian N., Schwart F., Yan Q., Friedman R.A., Guan M.X. Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness. Nucleic Acids Res. 2004, 32:867-877.
-
(2004)
Nucleic Acids Res.
, vol.32
, pp. 867-877
-
-
Li, X.1
Fischel-Ghodsian, N.2
Schwart, F.3
Yan, Q.4
Friedman, R.A.5
Guan, M.X.6
-
51
-
-
20344407298
-
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., 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. 2005, 117:9-15.
-
(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
-
52
-
-
33745150756
-
The mitochondrial tRNAThr A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family
-
Li R., Qu J., Zhou X., Tong Y., Hu Y., Qian Y., Lu F., Mo J.Q., West C.E., Guan M.X. The mitochondrial tRNAThr A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family. Gene 2006, 376:79-86.
-
(2006)
Gene
, vol.376
, pp. 79-86
-
-
Li, R.1
Qu, J.2
Zhou, X.3
Tong, Y.4
Hu, Y.5
Qian, Y.6
Lu, F.7
Mo, J.Q.8
West, C.E.9
Guan, M.X.10
-
53
-
-
45849151340
-
Audiological and genetic features of the mtDNA mutations
-
Liu X.Z., Angeli S., Ouyang X.M., Liu W., Ke X.M., Liu Y.H., Liu S.X., Du L.L., Deng X.W., Yuan H., Yan D. Audiological and genetic features of the mtDNA mutations. Acta Otolaryngol. 2008, 128:732-738.
-
(2008)
Acta Otolaryngol.
, vol.128
, pp. 732-738
-
-
Liu, X.Z.1
Angeli, S.2
Ouyang, X.M.3
Liu, W.4
Ke, X.M.5
Liu, Y.H.6
Liu, S.X.7
Du, L.L.8
Deng, X.W.9
Yuan, H.10
Yan, D.11
-
54
-
-
0029005340
-
Aminoglycosides
-
Lortholary O., Tod M., Cohen Y., Petitjean O. Aminoglycosides. Med. Clin. North Am. 1995, 79:761-798.
-
(1995)
Med. Clin. North Am.
, vol.79
, pp. 761-798
-
-
Lortholary, O.1
Tod, M.2
Cohen, Y.3
Petitjean, O.4
-
55
-
-
70450250078
-
Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation
-
Lu J., Qian Y., Li Z., Yang A., Zhu Y., Li R., Yang L., Tang X., Chen B., Ding Y., Li Y., You J., Zheng J., Tao Z., Zhao F., Wang J., Sun D., Zhao J., Meng Y., Guan M.X. Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation. Mitochondrion 2010, 10:69-81.
-
(2010)
Mitochondrion
, vol.10
, pp. 69-81
-
-
Lu, J.1
Qian, Y.2
Li, Z.3
Yang, A.4
Zhu, Y.5
Li, R.6
Yang, L.7
Tang, X.8
Chen, B.9
Ding, Y.10
Li, Y.11
You, J.12
Zheng, J.13
Tao, Z.14
Zhao, F.15
Wang, J.16
Sun, D.17
Zhao, J.18
Meng, Y.19
Guan, M.X.20
more..
-
56
-
-
77952821177
-
Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss
-
Lu J., Li Z., Zhu Y., Yang A., Li R., Zheng J., Cai Q., Peng G., Zheng W., Tang X., Chen B., Chen J., Liao Z., Yang L., Li Y., You J., Ding Y., Yu H., Wang J., Sun D., Zhao J., Xue L., Wang J., Guan M.X. Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. Mitochondrion 2010, 10:380-390.
-
(2010)
Mitochondrion
, vol.10
, pp. 380-390
-
-
Lu, J.1
Li, Z.2
Zhu, Y.3
Yang, A.4
Li, R.5
Zheng, J.6
Cai, Q.7
Peng, G.8
Zheng, W.9
Tang, X.10
Chen, B.11
Chen, J.12
Liao, Z.13
Yang, L.14
Li, Y.15
You, J.16
Ding, Y.17
Yu, H.18
Wang, J.19
Sun, D.20
Zhao, J.21
Xue, L.22
Wang, J.23
Guan, M.X.24
more..
-
57
-
-
0142119393
-
Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia
-
Malik S.G., Pieter N., Sudoyo H., Kadir A., Marzuki S. Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. J. Hum. Genet. 2003, 48:480-483.
-
(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
-
58
-
-
0029916599
-
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-Bbenza B., Cassiman J.J. Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree. Eur. J. Hum. Genet. 1996, 4:46-51.
-
(1996)
Eur. J. Hum. Genet.
, vol.4
, pp. 46-51
-
-
Matthijs, G.1
Claes, S.2
Longo-Bbenza, B.3
Cassiman, J.J.4
-
59
-
-
0036363375
-
The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening
-
Mehl A.L., Thomson V. The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening. Pediatrics 2002, 109:E7.
-
(2002)
Pediatrics
, vol.109
-
-
Mehl, A.L.1
Thomson, V.2
-
60
-
-
0023238983
-
Interaction of antibiotics with functional sites in 16S ribosomal RNA
-
Moazed D., Noller H.F. Interaction of antibiotics with functional sites in 16S ribosomal RNA. Nature 1987, 327:389-394.
-
(1987)
Nature
, vol.327
, pp. 389-394
-
-
Moazed, D.1
Noller, H.F.2
-
61
-
-
0021365039
-
Risk factors for the development of auditory toxicity in patients receiving aminoglycosides
-
Moore R.D., Smith C.R., Lietman P.S. Risk factors for the development of auditory toxicity in patients receiving aminoglycosides. J. Infect. Dis. 1984, 149:23-30.
-
(1984)
J. Infect. Dis.
, vol.149
, pp. 23-30
-
-
Moore, R.D.1
Smith, C.R.2
Lietman, P.S.3
-
62
-
-
0026410464
-
Genetic epidemiology of hearing impairment
-
Morton M.E. Genetic epidemiology of hearing impairment. Ann. NY Acad. Sci. 1991, 630:16-31.
-
(1991)
Ann. NY Acad. Sci.
, vol.630
, pp. 16-31
-
-
Morton, M.E.1
-
63
-
-
0037092599
-
Genetics, genomics and gene discovery in auditory system
-
Morton C.C. Genetics, genomics and gene discovery in auditory system. Hum. Mol. Genet. 2002, 11:1229-1240.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1229-1240
-
-
Morton, C.C.1
-
64
-
-
0025906879
-
Compilation of small ribosomal subunit RNA sequences
-
Neefs J.M., Van de Peer Y., De Rijik P., Goris A., De Wachter R. Compilation of small ribosomal subunit RNA sequences. Nucleic Acids Res. 1991, 19:1987-2018. (Suppl.).
-
(1991)
Nucleic Acids Res.
, vol.19
, Issue.SUPPL.
, pp. 1987-2018
-
-
Neefs, J.M.1
Van de Peer, Y.2
De Rijik, P.3
Goris, A.4
De Wachter, R.5
-
65
-
-
0842277862
-
Audiovestibular findings in patients with mitochondrial A1555G mutation
-
Noguchi Y., Yashima T., Ito T., Sumi T., Tsuzuku T., Kitamura K. Audiovestibular findings in patients with mitochondrial A1555G mutation. Laryngoscope 2004, 114:344-348.
-
(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
-
66
-
-
0025733603
-
Ribosomal RNA and translation
-
Noller H.F. Ribosomal RNA and translation. Annu. Rev. Biochem. 1991, 60:191-227.
-
(1991)
Annu. Rev. Biochem.
, vol.60
, pp. 191-227
-
-
Noller, H.F.1
-
67
-
-
0034056709
-
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. Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies. Teratology 2000, 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
-
-
0036822030
-
The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs
-
Ostergaard E., Montserrat-Sentis B., Gronskov K., Brondum-Nielsen K. The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs. Clin. Genet. 2002, 62:303-305.
-
(2002)
Clin. Genet.
, vol.62
, pp. 303-305
-
-
Ostergaard, E.1
Montserrat-Sentis, B.2
Gronskov, K.3
Brondum-Nielsen, K.4
-
69
-
-
0031055387
-
Mutation in the mitochondrial 12S ribosomal-RNA gene in 2 families from Mongolia with matrilineal aminoglycoside ototoxicity
-
Pandya A., Xia X., Radnaabazar J., Batsuuri J., Dangaansuren B., Fischel-Ghodsian N., Nance W.E. Mutation in the mitochondrial 12S ribosomal-RNA gene in 2 families from Mongolia with matrilineal aminoglycoside ototoxicity. J. Med. Genet. 1997, 34:169-172.
-
(1997)
J. Med. Genet.
, vol.34
, pp. 169-172
-
-
Pandya, A.1
Xia, X.2
Radnaabazar, J.3
Batsuuri, J.4
Dangaansuren, B.5
Fischel-Ghodsian, N.6
Nance, W.E.7
-
71
-
-
0027226069
-
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant T.R., Agapian J.V., Bohlman M.C., Bu X., Oztas S., Qiu W.Q., Arnos K.S., Cortopassi G.A., Jaber L., Rotter J.I., Shohat M., Fischel-Ghodsian N. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet. 1993, 4:289-294.
-
(1993)
Nat. Genet.
, vol.4
, pp. 289-294
-
-
Prezant, T.R.1
Agapian, J.V.2
Bohlman, M.C.3
Bu, X.4
Oztas, S.5
Qiu, W.Q.6
Arnos, K.S.7
Cortopassi, G.A.8
Jaber, L.9
Rotter, J.I.10
Shohat, M.11
Fischel-Ghodsian, N.12
-
72
-
-
0022618766
-
Aminoglycoside research 1975-1985: prospects for development of improved agents
-
Price K.E. Aminoglycoside research 1975-1985: prospects for development of improved agents. Antimicrob. Agent. Chemother. 1986, 29:543-548.
-
(1986)
Antimicrob. Agent. Chemother.
, vol.29
, pp. 543-548
-
-
Price, K.E.1
-
73
-
-
0028138280
-
Interactions of a small RNA with antibiotic and RNA ligands of the 30S subunit
-
Purohit P., Stern S. Interactions of a small RNA with antibiotic and RNA ligands of the 30S subunit. Nature 1994, 370:659-662.
-
(1994)
Nature
, vol.370
, pp. 659-662
-
-
Purohit, P.1
Stern, S.2
-
74
-
-
70350329459
-
Interaction of aminoglycosides with human mitochondrial 12S ribosomal RNA carrying the deafness-associated mutation
-
Qian Y., Guan M.X. Interaction of aminoglycosides with human mitochondrial 12S ribosomal RNA carrying the deafness-associated mutation. Antimicrob. Agents Chemother. 2009, 53:4612-4618.
-
(2009)
Antimicrob. Agents Chemother.
, vol.53
, pp. 4612-4618
-
-
Qian, Y.1
Guan, M.X.2
-
75
-
-
33644868369
-
The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation
-
Qu J., Li R., Zhou X., Tong Y., Lu F., Qian Y., Hu Y., Mo J.Q., West C.E., Guan M.X. The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation. Invest. Ophthalmol. Vis. Sci. 2006, 47:475-483.
-
(2006)
Invest. Ophthalmol. Vis. Sci.
, vol.47
, pp. 475-483
-
-
Qu, J.1
Li, R.2
Zhou, X.3
Tong, Y.4
Lu, F.5
Qian, Y.6
Hu, Y.7
Mo, J.Q.8
West, C.E.9
Guan, M.X.10
-
76
-
-
1842388479
-
RNA sequence determinants for aminoglycoside bind to an A-site rRNA model oligonucleotide
-
Recht M.I., Fourmy D., Blanchard S.C., Dahlquist K.D., Puglisi J.D. RNA sequence determinants for aminoglycoside bind to an A-site rRNA model oligonucleotide. J. Mol. Biol. 1996, 262:421-436.
-
(1996)
J. Mol. Biol.
, vol.262
, pp. 421-436
-
-
Recht, M.I.1
Fourmy, D.2
Blanchard, S.C.3
Dahlquist, K.D.4
Puglisi, J.D.5
-
77
-
-
34247176852
-
Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene
-
Rodriguez-Ballesteros M., Olarte M., Aguirre L.A., Galan F., Galan R., Vallejo L.A., Navas C., Villamar M., Moreno-Pelayo M.A., Moreno F., del Castillo I. Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene. J. Med. Genet. 2006, 43:e54.
-
(2006)
J. Med. Genet.
, vol.43
-
-
Rodriguez-Ballesteros, M.1
Olarte, M.2
Aguirre, L.A.3
Galan, F.4
Galan, R.5
Vallejo, L.A.6
Navas, C.7
Villamar, M.8
Moreno-Pelayo, M.A.9
Moreno, F.10
del Castillo, I.11
-
78
-
-
33750927660
-
Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA
-
Ruiz-Pesini E., Wallace D.C. Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA. Hum. Mutat. 2006, 27:1072-1081.
-
(2006)
Hum. Mutat.
, vol.27
, pp. 1072-1081
-
-
Ruiz-Pesini, E.1
Wallace, D.C.2
-
80
-
-
0000043793
-
Antimicrobial agents
-
Pergomon Press, Elmsford, NY, A.G. Gilman, T.W. Rall, A.S. Nies, Taylor (Eds.)
-
Sande M.A., Mandell G.L. Antimicrobial agents. Goodman and Golman's The Pharmacological Basis of Therapeutics 1990, 1098-1116. Pergomon Press, Elmsford, NY. 8th ed. A.G. Gilman, T.W. Rall, A.S. Nies, Taylor (Eds.).
-
(1990)
Goodman and Golman's The Pharmacological Basis of Therapeutics
, pp. 1098-1116
-
-
Sande, M.A.1
Mandell, G.L.2
-
81
-
-
0033366515
-
Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation
-
Santorelli F.M., Tanji K., Manta P., Casali C., Krishna S., Hays A.P., Mancini D.M., DiMauro S., Hirano M. Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. Am. J. Hum. Genet. 1999, 64:295-300.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 295-300
-
-
Santorelli, F.M.1
Tanji, K.2
Manta, P.3
Casali, C.4
Krishna, S.5
Hays, A.P.6
Mancini, D.M.7
DiMauro, S.8
Hirano, M.9
-
82
-
-
0031804156
-
Compilation of tRNA sequences and sequences of tRNA genes
-
Sprinzl M., Horn C., Brown M., Ioudovitch Steinberg S. Compilation of tRNA sequences and sequences of tRNA genes. Nucleic Acids Res. 1998, 26:148-153.
-
(1998)
Nucleic Acids Res.
, vol.26
, pp. 148-153
-
-
Sprinzl, M.1
Horn, C.2
Brown, M.3
Ioudovitch Steinberg, S.4
-
83
-
-
0036726578
-
Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk?
-
Tang H.Y., Hutcheson E., Neill S., Drummond-Borg M., Speer M., Alford R.L. Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk?. Genet. Med. 2002, 4:336-345.
-
(2002)
Genet. Med.
, vol.4
, pp. 336-345
-
-
Tang, H.Y.1
Hutcheson, E.2
Neill, S.3
Drummond-Borg, M.4
Speer, M.5
Alford, R.L.6
-
84
-
-
34047266817
-
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation
-
Tang X., Yang L., Zhu Y., Wang J., Qian Y., Wang X., Hu L., Tao Z., Wu J., Liao Z., Chen J., Li Z., Lu J., Guan M.X. Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. Gene 2007, 393:11-19.
-
(2007)
Gene
, vol.393
, pp. 11-19
-
-
Tang, X.1
Yang, L.2
Zhu, Y.3
Wang, J.4
Qian, Y.5
Wang, X.6
Hu, L.7
Tao, Z.8
Wu, J.9
Liao, Z.10
Chen, J.11
Li, Z.12
Lu, J.13
Guan, M.X.14
-
85
-
-
0037340257
-
Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey
-
Tekin M., Duman T., Bogoclu G., Incesulu A., Comak E., Fitoz S., Yilmaz E., Ilhan I., Akar N. Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. Eur. J. Pediatr. 2003, 162:154-158.
-
(2003)
Eur. J. Pediatr.
, vol.162
, pp. 154-158
-
-
Tekin, M.1
Duman, T.2
Bogoclu, G.3
Incesulu, A.4
Comak, E.5
Fitoz, S.6
Yilmaz, E.7
Ilhan, I.8
Akar, N.9
-
86
-
-
0035131983
-
Maternally inherited deafness associated with a T1095C mutation in the mDNA
-
Tessa A., Giannotti A., Tieri L., Vilarinho L., Marotta G., Santorelli F.M. Maternally inherited deafness associated with a T1095C mutation in the mDNA. Eur. J. Hum. Genet. 2002, 9:147-149.
-
(2002)
Eur. J. Hum. Genet.
, vol.9
, pp. 147-149
-
-
Tessa, A.1
Giannotti, A.2
Tieri, L.3
Vilarinho, L.4
Marotta, G.5
Santorelli, F.M.6
-
87
-
-
0033768121
-
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy
-
Thyagarajan D., Bressman S., Bruno C., Przedborski S., Shanske S., Lynch Y., Fahn S., DiMauro S. A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. Ann. Neurol. 2002, 48:730-736.
-
(2002)
Ann. Neurol.
, vol.48
, pp. 730-736
-
-
Thyagarajan, D.1
Bressman, S.2
Bruno, C.3
Przedborski, S.4
Shanske, S.5
Lynch, Y.6
Fahn, S.7
DiMauro, S.8
-
88
-
-
0033361927
-
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness
-
Torroni A., Cruciani F., Rengo C., Sellitto D., López-Bigas N., Rabionet R., Govea N., López De Munain A., Sarduy M., Romero L., Villamar M., del Castillo I., Moreno F., Estivill X., Scozzari R. The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness. Am. J. Hum. Genet. 1999, 65:1349-1358.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1349-1358
-
-
Torroni, A.1
Cruciani, F.2
Rengo, C.3
Sellitto, D.4
López-Bigas, N.5
Rabionet, R.6
Govea, N.7
López De Munain, A.8
Sarduy, M.9
Romero, L.10
Villamar, M.11
del Castillo, I.12
Moreno, F.13
Estivill, X.14
Scozzari, R.15
-
89
-
-
0031004773
-
Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation
-
Usami S.I., Abe S., Kasai M., Shinkawa H., Moeller B., Kenyon J.B., Kimberling W.J. Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation. Laryngoscope 1997, 107:483-490.
-
(1997)
Laryngoscope
, vol.107
, pp. 483-490
-
-
Usami, S.I.1
Abe, S.2
Kasai, M.3
Shinkawa, H.4
Moeller, B.5
Kenyon, J.B.6
Kimberling, W.J.7
-
90
-
-
0034054301
-
Prevalence of mitochondrial gene mutations among hearing impaired patients
-
Usami S.I., Abe S., Akita J., Namba A., Shinkawa H., Ishii M., Iwasaki S., Hoshino T., Ito J., Doi K., Kubo T., Nakagawa T., Komiyama S., Tono T., Komune S. Prevalence of mitochondrial gene mutations among hearing impaired patients. J. Med. Genet. 2000, 37:38-40.
-
(2000)
J. Med. Genet.
, vol.37
, pp. 38-40
-
-
Usami, S.I.1
Abe, S.2
Akita, J.3
Namba, A.4
Shinkawa, H.5
Ishii, M.6
Iwasaki, S.7
Hoshino, T.8
Ito, J.9
Doi, K.10
Kubo, T.11
Nakagawa, T.12
Komiyama, S.13
Tono, T.14
Komune, S.15
-
92
-
-
19944430235
-
Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated mitochondrial 12S rRNA T1095C mutation
-
Wang Q., Li R., Zhao H., Yang L., Peters J.L., Han D., Greinwald J.H., Young W.Y., Guan M.X. Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated mitochondrial 12S rRNA T1095C mutation. Am. J. Med. Genet. 2005, 133A:27-30.
-
(2005)
Am. J. Med. Genet.
, vol.133 A
, pp. 27-30
-
-
Wang, Q.1
Li, R.2
Zhao, H.3
Yang, L.4
Peters, J.L.5
Han, D.6
Greinwald, J.H.7
Young, W.Y.8
Guan, M.X.9
-
93
-
-
29644446464
-
Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation
-
Wang Q., Li Q.Z., Han D., Zhao Y., Zhao L., Qian Y., Yuan H., Li R., Zhai S., Young W.Y., Guan M.X. Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation. Biochem. Biophys. Res. Commun. 2006, 340:583-588.
-
(2006)
Biochem. Biophys. Res. Commun.
, vol.340
, pp. 583-588
-
-
Wang, Q.1
Li, Q.Z.2
Han, D.3
Zhao, Y.4
Zhao, L.5
Qian, Y.6
Yuan, H.7
Li, R.8
Zhai, S.9
Young, W.Y.10
Guan, M.X.11
-
94
-
-
57149125444
-
Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families
-
Wang X., Lu J., Zhu Y., Yang A., Yang L., Li R., Chen B., Qian Y., Tang X., Wang J., Zhang X., Guan M.X. Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families. Pharmacogenet. Genomics 2008, 18:1059-1070.
-
(2008)
Pharmacogenet. Genomics
, vol.18
, pp. 1059-1070
-
-
Wang, X.1
Lu, J.2
Zhu, Y.3
Yang, A.4
Yang, L.5
Li, R.6
Chen, B.7
Qian, Y.8
Tang, X.9
Wang, J.10
Zhang, X.11
Guan, M.X.12
-
95
-
-
73649147996
-
Combination of the loss of cmnm5U34 with the lack of s2U34 modifications of tRNALys, tRNAGlu, and tRNAGln altered mitochondrial biogenesis and respiration
-
Wang X., Yan Q., Guan M.X. Combination of the loss of cmnm5U34 with the lack of s2U34 modifications of tRNALys, tRNAGlu, and tRNAGln altered mitochondrial biogenesis and respiration. J. Mol. Biol. 2010, 395:1038-1048.
-
(2010)
J. Mol. Biol.
, vol.395
, pp. 1038-1048
-
-
Wang, X.1
Yan, Q.2
Guan, M.X.3
-
96
-
-
34247860605
-
The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss
-
Wei Q.P., Zhou X., Yang L., Sun Y.H., Zhou J., Li G., Jiang R., Lu F., Qu J., Guan M.X. The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss. Biochem. Biophys. Res. Commun. 2007, 357:910-916.
-
(2007)
Biochem. Biophys. Res. Commun.
, vol.357
, pp. 910-916
-
-
Wei, Q.P.1
Zhou, X.2
Yang, L.3
Sun, Y.H.4
Zhou, J.5
Li, G.6
Jiang, R.7
Lu, F.8
Qu, J.9
Guan, M.X.10
-
97
-
-
23844437940
-
Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15S rRNA
-
Yan Q., Li X., Faye G., Guan M.X. Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15S rRNA. J. Biol. Chem. 2005, 280:29151-29157.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 29151-29157
-
-
Yan, Q.1
Li, X.2
Faye, G.3
Guan, M.X.4
-
98
-
-
13744258058
-
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation
-
Young W.Y., Zhao L., Qian Y., Wang Q., Li N., Greinwald J.H., Guan M.X. Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. Biochem. Biophys. Res. Commun. 2005, 328:1244-1251.
-
(2005)
Biochem. Biophys. Res. Commun.
, vol.328
, pp. 1244-1251
-
-
Young, W.Y.1
Zhao, L.2
Qian, Y.3
Wang, Q.4
Li, N.5
Greinwald, J.H.6
Guan, M.X.7
-
99
-
-
33749463802
-
Variants in mitochondrial tRNAGlu, tRNAArg and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Chinese families with hearing loss
-
Young W.Y., Zhao L., Qian Y., Li R., Chen J., Dai P., Zhai S., Han D., Guan M.X. Variants in mitochondrial tRNAGlu, tRNAArg and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Chinese families with hearing loss. Am. J. Med. Genet. A 2006, 140:2188-2197.
-
(2006)
Am. J. Med. Genet. A
, vol.140
, pp. 2188-2197
-
-
Young, W.Y.1
Zhao, L.2
Qian, Y.3
Li, R.4
Chen, J.5
Dai, P.6
Zhai, S.7
Han, D.8
Guan, M.X.9
-
100
-
-
25144501268
-
Cosegregation of the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and non-syndromic hearing loss
-
Yuan H., Qian Y., Xu Y., Cao J., Bai L., Shen W., Ji F., Zhang X., Kang D., Mo J.Q., Greinwald J.H., Han D., Zhai S., Young W.Y., Guan M.X. Cosegregation of the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and non-syndromic hearing loss. Am. J. Med. Genet. 2005, 138A:133-140.
-
(2005)
Am. J. Med. Genet.
, vol.138 A
, pp. 133-140
-
-
Yuan, H.1
Qian, Y.2
Xu, Y.3
Cao, J.4
Bai, L.5
Shen, W.6
Ji, F.7
Zhang, X.8
Kang, D.9
Mo, J.Q.10
Greinwald, J.H.11
Han, D.12
Zhai, S.13
Young, W.Y.14
Guan, M.X.15
-
101
-
-
34548092747
-
Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNASer(UCN) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss
-
Yuan H., Chen J., Liu X., Cheng J., Wang X., Yang L., Yang S., Cao J., Kang D., Dai P., Zhai S., Han D., Young W.Y., Guan M.X. Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNASer(UCN) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss. Biochem. Biophys. Res. Commun. 2007, 362:94-100.
-
(2007)
Biochem. Biophys. Res. Commun.
, vol.362
, pp. 94-100
-
-
Yuan, H.1
Chen, J.2
Liu, X.3
Cheng, J.4
Wang, X.5
Yang, L.6
Yang, S.7
Cao, J.8
Kang, D.9
Dai, P.10
Zhai, S.11
Han, D.12
Young, W.Y.13
Guan, M.X.14
-
102
-
-
0347003512
-
Maternally inherited aminoglycoside-induced and non-syndromic 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., Guan M.X. Maternally inherited aminoglycoside-induced and non-syndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am. J. Hum. Genet. 2004, 74:139-152.
-
(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
-
103
-
-
8844236333
-
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., 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. 2004, 325:1503-1508.
-
(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
-
104
-
-
20044362198
-
Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and nonsyndromic hearing loss
-
Zhao H., Young W.Y., Yan Q., Li R., Cao J., Wang Q., Li X., Peters J.L., Han D., Guan M.X. Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and nonsyndromic hearing loss. Nucleic Acids Res. 2005, 33:1132-1139.
-
(2005)
Nucleic Acids Res.
, vol.33
, pp. 1132-1139
-
-
Zhao, H.1
Young, W.Y.2
Yan, Q.3
Li, R.4
Cao, J.5
Wang, Q.6
Li, X.7
Peters, J.L.8
Han, D.9
Guan, M.X.10
-
105
-
-
25144464065
-
Clinical evaluation and mitochondrial genome sequence analysis of two Chinese families with aminoglycoside-induced and nonsyndromic hearing loss
-
Zhao L., Wang Q., Qian Y., Li R., Cao J., Hart L.C., Zhai S., Han D., Young W.Y., Guan M.X. Clinical evaluation and mitochondrial genome sequence analysis of two Chinese families with aminoglycoside-induced and nonsyndromic hearing loss. Biochem. Biophys. Res. Commun. 2005, 336:967-973.
-
(2005)
Biochem. Biophys. Res. Commun.
, vol.336
, pp. 967-973
-
-
Zhao, L.1
Wang, Q.2
Qian, Y.3
Li, R.4
Cao, J.5
Hart, L.C.6
Zhai, S.7
Han, D.8
Young, W.Y.9
Guan, M.X.10
-
106
-
-
70449109181
-
Mitochondrial haplotype and phenotype of 13 Chinese families may suggest multi-original evolution of mitochondrial C1494T mutation
-
Zhu Y., Li Q., Chen Z., Kun Y., Liu L., Liu X., Yuan H., Zhai S., Han D., Dai P. Mitochondrial haplotype and phenotype of 13 Chinese families may suggest multi-original evolution of mitochondrial C1494T mutation. Mitochondrion 2009, 9:418-428.
-
(2009)
Mitochondrion
, vol.9
, pp. 418-428
-
-
Zhu, Y.1
Li, Q.2
Chen, Z.3
Kun, Y.4
Liu, L.5
Liu, X.6
Yuan, H.7
Zhai, S.8
Han, D.9
Dai, P.10
-
107
-
-
0022714308
-
Characterization of a collection of deletion mutants at the 3'-end of 16S ribosomal RNA of Escherichia coli
-
Zwieb C.D., Jemiolo D.K., Jacob W.F., Wagner R., Dahlberg A.E. Characterization of a collection of deletion mutants at the 3'-end of 16S ribosomal RNA of Escherichia coli. Mol. Gen. Genet. 1986, 203:256-264.
-
(1986)
Mol. Gen. Genet.
, vol.203
, pp. 256-264
-
-
Zwieb, C.D.1
Jemiolo, D.K.2
Jacob, W.F.3
Wagner, R.4
Dahlberg, A.E.5
|