Index | PMID | Date | Reference |
---|---|---|---|
1 | 15278763 | 2004 | Kong, Q. P., Yao, Y. G., Sun, C., Zhu, C. L., Zhong, L., Wang, C. Y., Cai, W. W., Xu, X. M., Xu, A. L., Zhang, Y. P. (2004) Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the ND5 gene not to be pathogenic Journal of Human Genetics . 49 (8): 414-423 . |
2 | 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 . |
3 | 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 . |
4 | 21131053 | 2011 | Liu, X. L., Zhou, X., Zhou, J., Zhao, F., Zhang, J., Li, C., Ji, Y., Zhang, Y., Wei, Q. P., Sun, Y. H., Yang, L., Lin, B., Yuan, Y., Li, Y., Qu, J., Guan, M. X. (2011) Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families Ophthalmology . 118 (5): 978-985 . |
5 | 21419139 | 2011 | Bi, R., Li, W. L., Chen, M. Q., Zhu, Z., Yao, Y. G. (2011) Rapid identification of mtDNA somatic mutations in gastric cancer tissues based on the mtDNA phylogeny Mutation Research . 709-710 (): 15-20 . |
6 | 21482521 | 2011 | Ji, Y. C., Liu, X. L., Zhao, F. X., Zhang, J. J., Zhang, Y., Zhou, X. T., Qu, J., Guan, M. X. (2011) [The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families] Yi Chuan . 33 (4): 322-328 . |
7 | 21724059 | 2011 | Bi, R., Zhang, A. M., Yao, Y. G. (2011) Leber's hereditary optic neuropathy Ophthalmology . 118 (7): 1489-1489 e1 . |
8 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
9 | 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 . |
10 | 29579248 | 2018 | Zhang, J., Ji, Y., Lu, Y., Fu, R., Xu, M., Liu, X., Guan, M. X. (2018) Leber's hereditary optic neuropathy (LHON)-associated ND5 12338T > C mutation altered the assembly and function of complex I, apoptosis and mitophagy Human Molecular Genetics . 27 (11): 1999-2011 . |
11 | 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 . |