MITOMAP References for RNA Mutation A4435G

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Index PMID Date Reference
1 16431939 2006 Qu, J., Li, R., Zhou, X., Tong, Y., Lu, F., Qian, Y., Hu, Y., Mo, J. Q., West, C. E., Guan, M. X. (2006) The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation Investigative Ophthalmology and Visual Science . 47 (2): 475-483 .
2 19022198 2008 Cai, W., Fu, Q., Zhou, X., Qu, J., Tong, Y., Guan, M. X. (2008) Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation Journal of Genetics and Genomics . 35 (11): 649-655 .
3 31965079 2020 Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 .
4 16060290 2005 Guo, L. J., Oshida, Y., Fuku, N., Takeyasu, T., Fujita, Y., Kurata, M., Sato, Y., Ito, M., Tanaka, M. (2005) Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity Mitochondrion . 5 (1): 15-33 .
5 19398658 2009 Liu, Y., Li, R., Li, Z., Wang, X. J., Yang, L., Wang, S., Guan, M. X. (2009) Mitochondrial transfer RNAMet 4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree Hypertension . 53 (6): 1083-1090 .
6 17123466 2007 Bandelt, H. J., Yao, Y. G., Salas, A., Kivisild, T., Bravi, C. M. (2007) High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients Biochemical and Biophysical Research Communications . 352 (2): 283-291 .
7 19778529 2009 Zhu, H. Y., Wang, S. W., Liu, L., Chen, R., Wang, L., Gong, X. L., Zhang, M. L. (2009) Genetic variants in mitochondrial tRNA genes are associated with essential hypertension in a Chinese Han population Clinica Chimica Acta . 410 (40545): 64-69 .
8 21694735 2011 Lu, Z., Chen, H., Meng, Y., Wang, Y., Xue, L., Zhi, S., Qiu, Q., Yang, L., Mo, J. Q., Guan, M. X. (2011) The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree European Journal of Human Genetics . 19 (11): 1181-1186 .
9 29222331 2018 Zhou, M., Xue, L., Chen, Y., Li, H., He, Q., Wang, B., Meng, F., Wang, M., Guan, M. X. (2018) A hypertension-associated mitochondrial DNA mutation introduces an m(1)G37 modification into tRNA(Met), altering its structure and function The Journal of Biological Chemistry . 293 (4): 1425-1438 .
10 29340697 2018 Valiente-Palleja, A., Torrell, H., Muntane, G., Cortes, M. J., Martinez-Leal, R., Abasolo, N., Alonso, Y., Vilella, E., Martorell, L. (2018) Genetic and clinical evidence of mitochondrial dysfunction in autism spectrum disorder and intellectual disability Human Molecular Genetics . 27 (5): 891-900 .
11 27214402 2016 Nakano, S., Suzuki, T., Kawarada, L., Iwata, H., Asano, K., Suzuki, T. (2016) NSUN3 methylase initiates 5-formylcytidine biogenesis in human mitochondrial tRNA(Met) Nature Chemical Biology . 12 (7): 546-551 .
12 32169613 2020 Zheng, J., Bai, X., Xiao, Y., Ji, Y., Meng, F., Aishanjiang, M., Gao, Y., Wang, H., Fu, Y., Guan, M. X. (2020) Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss Mitochondrion . 52 (): 163-172 .
13 29211511 2018 Zheng, P., Li, S., Liu, C., Zha, Z., Wei, X., Yuan, Y. (2018) Mitochondrial tRNA(Ala) C5601T mutation may modulate the clinical expression of tRNA(Met) A4435G mutation in a Han Chinese family with hypertension Clinical and Experimental Hypertension . 40 (6): 595-600 .
14 33552719 2021 Ding, Y., Zhuo, G., Guo, Q., Li, M. (2021) Leber's hereditary optic neuropathy: the roles of mitochondrial transfer RNA variants PeerJ . 9 (): e10651 .
15 34053002 2021 Shuai, J., Shi, J., Liang, Y., Ji, F., Gu, L., Yuan, Z. (2021) Mutational analysis of mitochondrial tRNA genes in 138 patients with Leber's hereditary optic neuropathy Irish Journal of Medical Science ePub ahead of print, http://doi.org/10.1007/s11845-021-02656-6 (): .
16 34755158 2021 Podskoczyj, K., Kulik, K., Wasko, J., Nawrot, B., Suzuki, T., Leszczynska, G. (2021) Synthesis and properties of the anticodon stem-loop of human mitochondrial tRNA(Met) containing the disease-related G or m(1)G nucleosides at position 37 Chemical Communications (Cambridge, England) . ePub ahead of print, http://doi.org/10.1039.d1cc05215b (): .