Index | PMID | Date | Reference |
---|---|---|---|
1 | 14681830 | 2004 | Zhao, H., Li, R., Wang, Q., Yan, Q., Deng, J. H., Han, D., Bai, Y., Young, W. Y., Guan, M. X. (2004) 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 American Journal of Human Genetics . 74 (1): 139-152 . |
2 | 15126302 | 2004 | Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 . |
3 | 15722487 | 2005 | Zhao, H., Young, W. Y., Yan, Q., Li, R., Cao, J., Wang, Q., Li, X., Peters, J. L., Han, D., Guan, M. X. (2005) Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss Nucleic Acids Research . 33 (3): 1132-1139 . |
4 | 16380089 | 2006 | 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. (2006) 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 Biochemical and Biophysical Research Communications . 340 (2): 583-588 . |
5 | 16458854 | 2006 | Ballana, E., Morales, E., Rabionet, R., Montserrat, B., Ventayol, M., Bravo, O., Gasparini, P., Estivill, X. (2006) Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment Biochemical and Biophysical Research Communications . 341 (4): 950-957 . |
6 | 16826519 | 2006 | 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. (2006) Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations American Journal of Human Genetics . 79 (2): 291-302 . |
7 | 16890911 | 2006 | Wang, C. Y., Kong, Q. P., Yao, Y. G., Zhang, Y. P. (2006) mtDNA mutation C1494T, haplogroup A, and hearing loss in Chinese Biochemical and Biophysical Research Communications . 348 (2): 712-715 . |
8 | 16947981 | 2006 | Ruiz-Pesini, E., Wallace, D. C. (2006) Evidence for adaptive selection acting on the tRNA and rRNA genes of the human mitochondrial DNA Human Mutation . 27 (11): 1072-1081 . |
9 | 17434445 | 2007 | Han, D., Dai, P., Zhu, Q., Liu, X., Huang, D., Yuan, Y., Yuan, H., Wang, X., Qian, Y., Young, W. Y., Guan, M. X. (2007) The mitochondrial tRNA(Ala) 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 Biochemical and Biophysical Research Communications . 357 (2): 554-560 . |
10 | 17489842 | 2007 | Kokotas, H., Petersen, M. B., Willems, P. J. (2007) Mitochondrial deafness Clinical Genetics . 71 (5): 379-391 . |
11 | 17698030 | 2007 | 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. (2007) Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss Biochemical and Biophysical Research Communications . 362 (1): 94-100 . |
12 | 17698299 | 2007 | Chen, J., Yang, L., Yang, A., Zhu, Y., Zhao, J., Sun, D., Tao, Z., Tang, X., Wang, J., Wang, X., Tsushima, A., Lan, J., Li, W., Wu, F., Yuan, Q., Ji, J., Feng, J., Wu, C., Liao, Z., Li, Z., Greinwald, J. H., Lu, J., Guan, M. X. (2007) Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees Gene . 401 (40545): 4-11 . |
13 | 18308926 | 2008 | Hobbie, S. N., Bruell, C. M., Akshay, S., Kalapala, S. K., Shcherbakov, D., Bottger, E. C. (2008) Mitochondrial deafness alleles confer misreading of the genetic code Proceedings of the National Academy of Sciences of the United States of America . 105 (9): 3244-3249 . |
14 | 18325329 | 2008 | Mkaouar-Rebai, E., Tlili, A., Masmoudi, S., Charfeddine, I., Fakhfakh, F. (2008) New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss Biochemical and Biophysical Research Communications . 369 (3): 849-852 . |
15 | 19144107 | 2009 | Bardien, S., Human, H., Harris, T., Hefke, G., Veikondis, R., Schaaf, H. S., van der Merwe, L., Greinwald, J. H., Fagan, J., de Jong, G. (2009) A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness BMC Medical Genetics . 10 (-): 2 . |
16 | 19687236 | 2009 | Qian, Y., Guan, M. X. (2009) Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation Antimicrobial Agents and Chemotherapy . 53 (11): 4612-4618 . |
17 | 20100600 | 2010 | 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. (2010) Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss Mitochondrion . 10 (4): 380-390 . |
18 | 20860455 | 2010 | Pacheu-Grau, D., Gomez-Duran, A., Montoya, J., Ruiz-Pesini, E. (2010) Influence of mtDNA genetic variation on antibiotic therapy Pharmacogenomics . 11 (9): 1185-1187 . |
19 | 21047563 | 2011 | Guan, M. X. (2011) Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity Mitochondrion . 11 (2): 237-45 . |
20 | 21495045 | 2011 | Ealy, M., Lynch, K. A., Meyer, N. C., Smith, R. J. (2011) The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population Laryngoscope . 121 (6): 1184-1186 . |
21 | 25837512 | 2015 | Greber, B. J., Bieri, P., Leibundgut, M., Leitner, A., Aebersold, R., Boehringer, D., Ban, N. (2015) Ribosome. The complete structure of the 55S mammalian mitochondrial ribosome Science . 348 (6232): 303-308 . |
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23 | 28901477 | 2017 | Duan, S. H., Ma, J. L., Yang, X. L., Guo, Y. F. (2017) Simultaneous multigene mutation screening using SNPscan in patients from ethnic minorities with nonsyndromic hearingimpairment in Northwest China Molecular Medicine Reports . 16 (5): 6722-6728 . |
24 | 29707576 | 2018 | Wang, C., Wang, S., Chen, H., Lu, D. (2018) Establishment of a gene detection system for hotspot mutations of hearing loss Biomed Research International . 2018 (): 6828306 . |