MITOMAP References for Variant T14674C at 14674

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PMID Reference
8155739 Houshmand, M., Larsson, N.G., Holme, E., Oldfors, A., Tulinius, M.H., Andersen, O. (1994) Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1226 (1): 49-55 .
29253894 Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 .
NA Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub ( 798264 .
31965079 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 .
16150714 Merriwether, D. A., Hodgson, J. A., Friedlaender, F. R., Allaby, R., Cerchio, S., Koki, G., Friedlaender, J. S. (2005) Ancient mitochondrial M haplogroups identified in the Southwest Pacific Proceedings of the National Academy of Sciences of the United States of America . 102 (37): 13034-13039 .
19720722 Horvath, R., Kemp, J. P., Tuppen, H. A., Hudson, G., Oldfors, A., Marie, S. K., Moslemi, A. R., Servidei, S., Holme, E., Shanske, S., Kollberg, G., Jayakar, P., Pyle, A., Marks, H. M., Holinski-Feder, E., Scavina, M., Walter, M. C., Coku, J., Gunther-Scholz, A., Smith, P. M., McFarland, R., Chrzanowska-Lightowlers, Z. M., Lightowlers, R. N., Hirano, M., Lochmuller, H., Taylor, R. W., Chinnery, P. F., Tulinius, M., DiMauro, S. (2009) Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy Brain . 132 (Pt 11): 3165-3174 .
21194154 Mimaki, M., Hatakeyama, H., Komaki, H., Yokoyama, M., Arai, H., Kirino, Y., Suzuki, T., Nishino, I., Nonaka, I., Goto, Y. (2010) Reversible infantile respiratory chain deficiency: a clinical and molecular study Annals of Neurology . 68 (6): 845-854 .
32970680 Toncheva, D., Serbezov, D., Karachanak-Yankova, S., Nesheva, D. (2020) Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease PLoS One 15 (9): e0233666 .
33128823 Hathazi, D., Griffin, H., Jennings, M. J., Giunta, M., Powell, C., Pearce, S. F., Munro, B., Wei, W., Boczonadi, V., Poulton, J., Pyle, A., Calabrese, C., Gomez-Duran, A., Schara, U., Pitceathly, R. D. S., Hanna, M. G., Joost, K., Cotta, A., Paim, J. F., Navarro, M. M., Duff, J., Mattman, A., Chapman, K., Servidei, S., Della Marina, A., Uusimaa, J., Roos, A., Mootha, V., Hirano, M., Tulinius, M., Giri, M., Hoffmann, E. P., Lochmuller, H., DiMauro, S., Minczuk, M., Chinnery, P. F., Muller, J. S., Horvath, R. (2020) Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency The EMBO Journal . 39 (23): e105364 .
NA van Oven, M., Kayser, M. (2016) . . Variants appear in tree, sequence(s) available. Phylotree (Build 17): 18 Feb .