Index | PMID | Date | Reference |
---|---|---|---|
1 | 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 . |
2 | 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 . |
3 | 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 . |
4 | 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 . |
5 | 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 . |
6 | 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 . |
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 | 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 . |
10 | 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 . |
11 | 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 . |
12 | 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 . |
13 | 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 . |
14 | 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 . |
15 | 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 . |
16 | 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 . |
17 | 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 . |
18 | 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 . |
19 | 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 . |
20 | 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 . |
21 | 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 . |
22 | 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 . |
23 | 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 . |
24 | 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 . |
25 | 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 . |
26 | 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 . |
27 | 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 . |
28 | 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 . |
29 | 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 . |
30 | 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 . |
31 | 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 . |
32 | 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 . |
33 | 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 . |
34 | 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 . |
35 | 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 . |
36 | 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 . |
37 | 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 . |
38 | 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 . |
39 | 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 . |
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 . |