MITOMAP References for Variant C>T at 9296

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Index PMID Date Reference
1 7806218 1994 Tanaka, M., Ozawa, T. (1994) Strand asymmetry in human mitochondrial DNA mutations Genomics . 22 (2): 327-335 .
2 NA 2003 Silva, W. A., Jr., Bonatto, S. L., Holanda, A. J., Ribeiro-Dos-Santos, A. K., Paixao, B. M., Goldman, G. H., Abe-Sandes, K., Rodriguez-Delfin, L., Barbosa, M., Paco-Larson, M. L., Petzl-Erler, M. L., Valente, V., Santos, S. E., Zago, M. A. (2003) Correction: mitochondrial DNA variation in Amerindians American Journal of Human Genetics . 72 (5): 1346-1348; in response to 1341-1346; further reply 1348-1349 .
3 15708009 2005 Young, W. Y., Zhao, L., Qian, Y., Wang, Q., Li, N., Greinwald, J. H., Jr., Guan, M. X. (2005) Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation Biochemical and Biophysical Research Communications . 328 (4): 1244-1251 .
4 15896721 2005 Qian, Y., Zhou, X., Hu, Y., Tong, Y., Li, R., Lu, F., Yang, H., Mo, J. Q., Qu, J., Guan, M. X. (2005) Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy Biochemical and Biophysical Research Communications . 332 (2): 614-621 .
5 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 .
6 17033820 2007 Nishigaki, Y., Yamada, Y., Fuku, N., Matsuo, H., Segawa, T., Watanabe, S., Kato, K., Yokoi, K., Yamaguchi, S., Nozawa, Y., Tanaka, M. (2007) Mitochondrial haplogroup N9b is protective against myocardial infarction in Japanese males Human Genetics . 120 (6): 827-836 .
7 17259400 2007 Tanaka, M., Fuku, N., Nishigaki, Y., Matsuo, H., Segawa, T., Watanabe, S., Kato, K., Yokoi, K., Ito, M., Nozawa, Y., Yamada, Y. (2007) Women with mitochondrial haplogroup N9a are protected against metabolic syndrome Diabetes . 56 (2): 518-521 .
8 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 .
9 18386806 2008 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. (2008) Mitochondrial ND5 T12338C, tRNA(Cys) T5802C, and tRNA(Thr) G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees American Journal of Medical Genetics. Part A . 146A (10): 1248-1258 .
10 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 .
11 19167085 2009 Qu, J., Zhou, X., Zhang, J., Zhao, F., Sun, Y. H., Tong, Y., Wei, Q. P., Cai, W., Yang, L., West, C. E., Guan, M. X. (2009) Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation Ophthalmology . 116 (3): 558-564 e3 .
12 19324017 2009 Liang, M., Guan, M., Zhao, F., Zhou, X., Yuan, M., Tong, Y., Yang, L., Wei, Q. P., Sun, Y. H., Lu, F., Qu, J., Guan, M. X. (2009) Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation Biochemical and Biophysical Research Communications . 383 (3): 286-292 .
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 22487888 2012 Sukernik, R. I., Volodko, N. V., Mazunin, I. O., Eltsov, N. P., Dryomov, S. V., Starikovskaya, E. B. (2012) Mitochondrial genome diversity in the Tubalar, Even, and Ulchi: contribution to prehistory of native Siberians and their affinities to Native Americans American Journal of Physical Anthropology . 148 (1): 123-138 .
15 NA 2014 van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .
16 24470521 2014 Qin, Y., Xue, L., Jiang, P., Xu, M., He, Y., Shi, S., Huang, Y., He, J., Mo, J. Q., Guan, M. X. (2014) Mitochondrial tRNA variants in Chinese subjects with coronary heart disease Journal of the American Heart Association . 3 (1): e000437 .