MITOMAP References for Mutation T-C at 3394

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1 8680405 1995 Brown, M.D., Torroni, A., Reckord, C.L., Wallace, D.C. (1995) Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations Human Mutation . 6 (4): 311-325 .
2 1732158 1992 Brown, M.D., Voljavec, A.S., Lott, M.T., Torroni, A., Yang, C.-C., Wallace, D.C. (1992) Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy Genetics . 130 (1): 163-173 .
3 1417830 1992 Johns, D. R., Neufeld, M. J., Park, R. D. (1992) An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy Biochemical and Biophysical Research Communications . 187 (3): 1551-1557 .
4 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 .
5 7599217 1995 Gerbitz, K. D., van den Ouweland, J. M., Maassen, J. A., Jaksch, M. (1995) Mitochondrial diabetes mellitus: a review Biochimica et Biophysica Acta . 1271 (1): 253-260 .
6 7635294 1995 Howell, N., Kubacka, I., Halvorson, S., Howell, B., McCullough, D. A., Mackey, D. (1995) Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees Genetics . 140 (1): 285-302 .
7 8728705 1996 Thomas, A.W., Edwards, A., Sherratt, E.J., Majid, A., Gagg, J., Alcolado, J.C. (1996) Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus Journal of Medical Genetics . 33 (3): 253-256 .
8 10520236 1999 Matsumoto, M., Hayasaka, S., Kadoi, C., Hotta, Y., Fujiki, K., Fujimaki, T., Takeda, M., Ishida, N., Endo, S., Kanai, A. (1999) Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy Ophthalmic Genetics . 20 (3): 153-160 .
9 16773565 2006 Saxena, R., de Bakker, P. I., Singer, K., Mootha, V., Burtt, N., Hirschhorn, J. N., Gaudet, D., Isomaa, B., Daly, M. J., Groop, L., Ardlie, K. G., Altshuler, D. (2006) Comprehensive association testing of common mitochondrial DNA variation in metabolic disease American Journal of Human Genetics . 79 (1): 54-61 .
10 18679013 2008 Liao, W. Q., Pang, Y., Yu, C. A., Wen, J. Y., Zhang, Y. G., Li, X. H. (2008) Novel mutations of mitochondrial DNA associated with type 2 diabetes in Chinese Han population The Tohoku Journal of Experimental Medicine . 215 (4): 377-384 .
11 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 .
12 20728388 2010 Zhang, M., Zhou, X., Li, C., Zhao, F., Zhang, J., Yuan, M., Sun, Y. H., Wang, J., Tong, Y., Liang, M., Yang, L., Cai, W., Wang, L., Qu, J., Guan, M. X. (2010) Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation Molecular Genetics and Metabolism . 101 (40577): 192-199 .
13 22517755 2012 Ji, F., Sharpley, M. S., Derbeneva, O., Alves, L. S., Qian, P., Wang, Y., Chalkia, D., Lvova, M., Xu, J., Yao, W., Simon, M., Platt, J., Xu, S., Angelin, A., Davila, A., Huang, T., Wang, P. H., Chuang, L. M., Moore, L. G., Qian, G., Wallace, D. C. (2012) Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans Proceedings of the National Academy of Sciences of the United States of America . 109 (19): 7391-7396 .
14 23563965 2013 Levin, L., Zhidkov, I., Gurman, Y., Hawlena, H., Mishmar, D. (2013) Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease Genome Biology and Evolution . 5 (5): 876-890 .
15 22233893 2012 Gu, M., Dong, X., Shi, L., Shi, L., Lin, K., Huang, X., Chu, J. (2012) Differences in mtDNA whole sequence between Tibetan and Han populations suggesting adaptive selection to high altitude Gene . 496 (1): 37-44 .
16 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 .
17 27498855 2016 Kang, L., Zheng, H. X., Zhang, M., Yan, S., Li, L., Liu, L., Liu, K., Hu, K., Chen, F., Ma, L., Qin, Z., Wang, Y., Wang, X., Jin, L. (2016) MtDNA analysis reveals enriched pathogenic mutations in Tibetan highlanders Scientific Reports . 6 (): 31083 .
18 29444077 2018 Caporali, L., Iommarini, L., La Morgia, C., Olivieri, A., Achilli, A., Maresca, A., Valentino, M. L., Capristo, M., Tagliavini, F., Del Dotto, V., Zanna, C., Liguori, R., Barboni, P., Carbonelli, M., Cocetta, V., Montopoli, M., Martinuzzi, A., Cenacchi, G., De Michele, G., Testa, F., Nesti, A., Simonelli, F., Porcelli, A. M., Torroni, A., Carelli, V. (2018) Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy PLoS Genetics . 14 (2): e1007210 .
19 29997041 2018 Chalkia, D., Chang, Y. C., Derbeneva, O., Lvova, M., Wang, P., Mishmar, D., Liu, X. G., Singh, L. N., Chuang, L. M., Wallace, D. C. (2018) Mitochondrial DNA associations with East Asian metabolic syndrome Biochimica et Biophysica Acta 1859 (9): 878-892 .
20 33420243 2021 Verma, R. K., Kalyakulina, A., Giuliani, C., Shinde, P., Kachhvah, A. D., Ivanchenko, M., Jalan, S. (2021) Analysis of human mitochondrial genome co-occurrence networks of Asian population at varying altitudes Scientific Reports . 11 (1): 133 .
21 33763872 2021 Pozzi, A., Dowling, D. K. (2021) Small mitochondrial RNAs as mediators of nuclear gene regulation, and potential implications for human health Bioessays . 43 (6): e2000265 .
22 15972314 2006 Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 .
23 16168441 2005 Sciacco, M., Prelle, A., Fagiolari, G., Bordoni, A., Crimi, M., Di Fonzo, A., Ciscato, P., Lamperti, C., D'Adda, E., Jann, S., Bresolin, N., Comi, G. P., Moggio, M. (2005) A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy Journal of the Neurological Sciences . 239 (1): 21-24 .
24 10704697 2000 Chen, Y., Liao, W. X., Roy, A. C., Loganath, A., Ng, S. C. (2000) Mitochondrial gene mutations in gestational diabetes mellitus Diabetes Research and Clinical Practice . 48 (1): 29-35 .
25 18428021 2008 Shao, L., Martin, M. V., Watson, S. J., Schatzberg, A., Akil, H., Myers, R. M., Jones, E. G., Bunney, W. E., Vawter, M. P. (2008) Mitochondrial involvement in psychiatric disorders Annals of Medicine . 40 (4): 281-295 .
26 15338331 2004 Mostafaie, N., Rossmanith, W., Hombauer, H., Dechat, T., Raffelsberger, T., Bauer, K., Worofka, B., Kittl, E., Hofmann, J., Hejtman, M., Kirchmeyr, W., Schreiber, W., Weissgram, S., Jungwirth, S., Fischer, P., Bittner, R., Huber, K. (2004) Mitochondrial genotype and risk for Alzheimer's disease: cross-sectional data from the Vienna-Transdanube-Aging "VITA" study Journal of Neural Transmission . 111 (9): 1155-1165 .
27 21457906 2011 Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 .
28 21694444 2011 Du, W. D., Chen, G., Cao, H. M., Jin, Q. H., Liao, R. F., He, X. C., Chen, D. B., Huang, S. R., Zhao, H., Lv, Y. M., Tang, H. Y., Tang, X. F., Wang, Y. Q., Sun, S., Zhao, J. L., Zhang, X. J. (2011) A simple oligonucleotide biochip capable of rapidly detecting known mitochondrial DNA mutations in Chinese patients with Leber's hereditary optic neuropathy (LHON) Disease Markers . 30 (4): 181-190 .
29 16331560 2005 Tang, D. L., Zhou, X., Zhou, K. Y., Li, X., Zhao, L., Liu, F., Zheng, F., Liu, S. M. (2005) [Association of mitochondrial DNA variation with type 2 diabetes mellitus] Zhonghua Yi Xue Yi Chuan Xue Za Zhi . 22 (6): 636-640 .
30 16414144 2006 Tang, D. L., Zhou, X., Li, X., Zhao, L., Liu, F. (2006) Variation of mitochondrial gene and the association with type 2 diabetes mellitus in a Chinese population Diabetes Research and Clinical Practice . 73 (1): 77-82 .
31 27177320 2016 Ji, Y., Liang, M., Zhang, J., Zhu, L., Zhang, Z., Fu, R., Liu, X., Zhang, M., Fu, Q., Zhao, F., Tong, Y., Sun, Y., Jiang, P., Guan, M. X. (2016) Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's hereditary optic neuropathy Investigative Ophthalmology and Visual Science . 57 (6): 2377-2789 .
32 29987491 2018 O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 .
33 30597069 2019 Ji, Y., Zhang, J., Yu, J., Wang, Y., Lu, Y., Liang, M., Li, Q., Jin, X., Wei, Y., Meng, F., Gao, Y., Cang, X., Tong, Y., Liu, X., Zhang, M., Jiang, P., Zhu, T., Mo, J. Q., Huang, T., Jiang, P., Guan, M. X. (2019) Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy Human Molecular Genetics . 28 (9): 1515-1529 .
34 19199242 2009 Wang, S. J., Wu, S. H., Zheng, T. S., Wang, L., Lu, H. J., Xiang, K. S. (2009) [Study on the mitochondrial DNA mutations in familial diabetes mellitus in Chinese population] Zhonghua Yi Xue Yi Chuan Xue Za Zhi . 26 (1): 6-10 .
35 29387390 2018 Dai, Y., Wang, C., Nie, Z., Han, J., Chen, T., Zhao, X., Ai, C., Ji, Y., Gao, T., Jiang, P. (2018) Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel Biomedical Reports . 8 (1): 51-58 .
36 27465874 2016 Li, Q., Lin, K., Sun, H., Liu, S., Huang, K., Huang, X., Chu, J., Yang, Z. (2016) Mitochondrial haplogroup M9a1a1c1b is associated with hypoxic adaptation in the Tibetans Journal of Human Genetics . 61 (12): 1021-1026 .
37 23350576 2013 Luo, Y., Yang, X., Gao, Y. (2013) Mitochondrial DNA response to high altitude: a new perspective on high-altitude adaptation Mitochondrial DNA . 24 (4): 313-319 .
38 32887465 2020 Dawod, P. G. A., Jancic, J., Marjanovic, A., Brankovic, M., Jankovic, M., Samardzic, J., Potkonjak, D., Djuric, V., Mesaros, S., Novakovic, I., Abdel Motaleb, F. I., Kostic, V. S., Nikolic, D. (2020) Whole mitochondrial genome analysis in Serbian cases of Leber's hereditary optic neuropathy Genes (Basel) . 11 (9): 1037 .
39 11853713 2002 Yen, M. Y., Wang, A. G., Chang, W. L., Hsu, W. M., Liu, J. H., Wei, Y. H. (2002) Leber's hereditary optic neuropathy--the spectrum of mitochondrial DNA mutations in Chinese patients Japanese Journal of Ophthalmology . 46 (1): 45-51 .
40 33840063 2022 You, X., Huang, X., Bi, L., Li, R., Zheng, L., Xin, C. (2022) Clinical and molecular features of two diabetes families carrying mitochondrial ND1 T3394C mutation Irish Journal of Medical Science . 191 (2): 749-758 .