| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 2025303 | 1991 | Ozawa, T., Tanaka, M., Ino, H., Ohno, K., Sano, T., Wada, Y., Yoneda, M., Tanno, Y., Miyatake, T., Tanaka, T., Itoyama, S., Ikebe, S., Hattori, N., Mizuno, Y. (1991) Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease Biochemical and Biophysical Research Communications . 176 (2): 938-946 . |
| 2 | 2043137 | 1991 | Ozawa, T., Tanaka, M., Sugiyama, S., Ino, H., Ohno, K., Hattori, K., Ohbayashi, T., Ito, T., Deguchi, H., Kawamura, K., Nakane, Y., Hashiba, K. (1991) Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy Biochemical and Biophysical Research Communications . 177 (1): 518-525 . |
| 3 | 1442494 | 1992 | Obayashi, T., Hattori, K., Sugiyama, S., Tanaka, M., Tanaka, T., Itoyama, S., Deguchi, H., Kawamura, K., Koga, Y., Toshima, H., Takeda, N., Nagano, M., Ito, T., Ozawa, T. (1992) Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy American Heart Journal . 124 (5): 1263-1269 . |
| 4 | 7723627 | 1995 | Ikebe, S., Tanaka, M., Ozawa, T. (1995) Point mutations of mitochondrial genome in Parkinson's disease Molecular Brain Research . 28 (2): 281-295 . |
| 5 | 15638829 | 2005 | Starikovskaya, E. B., Sukernik, R. I., Derbeneva, O. A., Volodko, N. V., Ruiz-Pesini, E., Torroni, A., Brown, M. D., Lott, M. T., Hosseini, S. H., Huoponen, K., Wallace, D. C. (2005) Mitochondrial DNA diversity in indigenous populations of the southern belt of Siberia and its implications for the origins and evolution of Native American haplogroups Annals of Human Genetics . 69 (Pt 1): 67-89 . |
| 6 | 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 . |
| 7 | 16714301 | 2006 | Kong, Q. P., Bandelt, H. J., Sun, C., Yao, Y. G., Salas, A., Achilli, A., Wang, C. Y., Zhong, L., Zhu, C. L., Wu, S. F., Torroni, A., Zhang, Y. P. (2006) Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations Human Molecular Genetics . 15 (13): 2076-2086 . |
| 8 | 16895436 | 2006 | Kazuno, A. A., Munakata, K., Nagai, T., Shimozono, S., Tanaka, M., Yoneda, M., Kato, N., Miyawaki, A., Kato, T. (2006) Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics PLoS Genetics . 2 (8): e128 . |
| 9 | 17341440 | 2007 | Tang, X., Yang, L., Zhu, Y., Liao, Z., Wang, J., Qian, Y., Tao, Z., Hu, L., Wu, G., Lan, J., Wang, X., Ji, J., Wu, J., Ji, Y., Feng, J., Chen, J., Li, Z., Zhang, X., Lu, J., Guan, M. X. (2007) Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation Gene . 393 (40545): 11-19 . |
| 10 | 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 . |
| 11 | 18545700 | 2008 | Bilal, E., Rabadan, R., Alexe, G., Fuku, N., Ueno, H., Nishigaki, Y., Fujita, Y., Ito, M., Arai, Y., Hirose, N., Ruckenstein, A., Bhanot, G., Tanaka, M. (2008) Mitochondrial DNA haplogroup D4a is a marker for extreme longevity in Japan PLoS One . 3 (6): e2421 . |
| 12 | 18801464 | 2008 | Tonska, K., Kurzawa, M., Ambroziak, A. M., Korwin-Rujna, M., Szaflik, J. P., Grabowska, E., Szaflik, J., Bartnik, E. (2008) A family with 3460G>A and 11778G>A mutations and haplogroup analysis of Polish Leber hereditary optic neuropathy patients Mitochondrion . 8 (40669): 383-388 . |
| 13 | 19818876 | 2010 | 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. (2010) Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation Mitochondrion . 10 (1): 69-81 . |
| 14 | 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 . |
| 15 | 24002810 | 2013 | Kang, L., Zheng, H. X., Chen, F., Yan, S., Liu, K., Qin, Z., Liu, L., Zhao, Z., Li, L., Wang, X., He, Y., Jin, L. (2013) mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands. [Supplementary Materials online.] Molecular Biology and Evolution . 30 (12): 2579-2587 . |
| 16 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
| 17 | 29343773 | 2018 | Koh, H., Park, G. S., Shin, S. M., Park, C. E., Kim, S., Han, S. J., Pham, H. Q., Shin, J. H., Lee, D. W. (2018) Mitochondrial mutations in cholestatic liver disease with biliary atresia Scientific Reports . 8 (1): 905 . |