MITOMAP References for RNA Mutation T1095C

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Index PMID Date Reference
1 11313749 2001 Tessa, A., Giannotti, A., Tieri, L., Vilarinho, L., Marotta, G., Santorelli, F. M. (2001) Maternally inherited deafness associated with a T1095C mutation in the mDNA European Journal of Human Genetics . 9 (2): 147-149 .
2 11079536 2000 Thyagarajan, D., Bressman, S., Bruno, C., Przedborski, S., Shanske, S., Lynch, T., Fahn, S., DiMauro, S. (2000) A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy Annals of Neurology . 48 (5): 730-736 .
3 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 .
4 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 .
5 15555598 2004 Zhao, L., Young, W. Y., Li, R., Wang, Q., Qian, Y., Guan, M. X. (2004) Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation Biochemical and Biophysical Research Communications . 325 (4): 1503-1508 .
6 15637703 2005 Wang, Q., Li, R., Zhao, H., Peters, J. L., Liu, Q., Yang, L., Han, D., Greinwald, J. H., Jr., Young, W. Y., Guan, M. X. (2005) Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation American Journal of Medical Genetics . 133A (1): 27-30 .
7 15841390 2005 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. (2005) Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss Human Genetics . 117 (1): 9-15 .
8 16528519 2006 Yao, Y. G., Salas, A., Bravi, C. M., Bandelt, H. J. (2006) A reappraisal of complete mtDNA variation in East Asian families with hearing impairment Human Genetics . 119 (5): 505-515 .
9 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 .
10 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 .
11 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 .
12 17489842 2007 Kokotas, H., Petersen, M. B., Willems, P. J. (2007) Mitochondrial deafness Clinical Genetics . 71 (5): 379-391 .
13 16875663 2006 Dai, P., Yuan, Y., Huang, D., Qian, Y., Liu, X., Han, D., Yuan, H., Wang, X., Young, W. Y., Guan, M. X. (2006) Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA T1095C mutation in three Chinese families Biochemical and Biophysical Research Communications . 348 (1): 200-205 .
14 30523288 2019 Igumnova, V., Veidemane, L., Viksna, A., Capligina, V., Zole, E., Ranka, R. (2019) The prevalence of mitochondrial mutations associated with aminoglycoside-induced deafness in ethnic Latvian population: the appraisal of the evidence Journal of Human Genetics . 64 (3): 199-206 .
15 19705751 2009 Dzhemileva, L. U., Posukh, O. L., Tazetdinov, A. M., Barashkov, N. A., Zhuravskii, S. G., Ponidelko, S. N., Markova, T. G., Tadinova, V. N., Fedorova, S. A., Maksimova, N. R., Khusnutdinova, E. K. (2009) [Analysis of mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia] Genetika . 45 (7): 982-991 .
16 27654872 2016 Barbarino, J. M., McGregor, T. L., Altman, R. B., Klein, T. E. (2016) PharmGKB summary: very important pharmacogene information for MT-RNR1 Pharmacogenetics and Genomics . 26 (12): 558-567 .