MITOMAP References for Variant T14674C at 14674

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Index PMID Date Reference
1 8155739 1994 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 .
2 16150714 2005 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 .
3 19720722 2009 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 .
4 21194154 2010 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 .
5 21931168 2011 Uusimaa, J., Jungbluth, H., Fratter, C., Crisponi, G., Feng, L., Zeviani, M., Hughes, I., Treacy, E. P., Birks, J., Brown, G. K., Sewry, C. A., McDermott, M., Muntoni, F., Poulton, J. (2011) Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease Journal of Medical Genetics . 48 (10): 660-668 .
6 23814040 2013 Boczonadi, V., Smith, P. M., Pyle, A., Gomez-Duran, A., Schara, U., Tulinius, M., Chinnery, P. F., Horvath, R. (2013) Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency Human Molecular Genetics . 22 (22): 4602-4615 .
7 25407320 2015 Boczonadi, V., Bansagi, B., Horvath, R. (2015) Reversible infantile mitochondrial diseases Journal of Inherited Metabolic Disease . 38 (3): 427-435 .
8 NA 2016 van Oven, M., Kayser, M. (2016) . . Variants appear in tree, sequence(s) available. Phylotree (Build 17): 18 Feb .
9 29253894 2017 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 .
10 31333056 2019 Guerrero, J. C., Pedro, H., Parisotto, S., Heller, D., Baisre-de Leon, A. (2019) A case of reversible infantile respiratory chain deficiency presenting with hypotonia, hyperammonemia, and failure to thrive Pediatric and Developmental Pathology . 22 (6): 590-593 .
11 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 .
12 32970680 2020 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 .
13 33128823 2020 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 .
14 33832841 2021 Cotta, A., Carvalho, E., da-Cunha-Junior, A., Navarro, M. M., Paim, J. F., Valicek, J., Baptista-Junior, S., da Silveira, E. B., Lima, M. I., Carellos, E. V. M., de-La-Rocque-Ferreira, A., Takata, R. I., Horvath, R. (2021) Muscle fat replacement and modified ragged red fibers in two patients with reversible infantile respiratory chain deficiency Neuromuscular Disorders . 31 (6): 551-557 .
15 34732400 2021 Schon, K. R., Horvath, R., Wei, W., Calabrese, C., Tucci, A., Ibanez, K., Ratnaike, T., Pitceathly, R. D. S., Bugiardini, E., Quinlivan, R., Hanna, M. G., Clement, E., Ashton, E., Sayer, J. A., Brennan, P., Josifova, D., Izatt, L., Fratter, C., Nesbitt, V., Barrett, T., McMullen, D. J., Smith, A., Deshpande, C., Smithson, S. F., Festenstein, R., Canham, N., Caulfield, M., Houlden, H., Rahman, S., Chinnery, P. F., Genomics England Research Consortium (2021) Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study BMJ: British Medical Journal . 375 (): e066288 .
16 34806237 2022 Roos, S., Hedberg-Oldfors, C., Visuttijai, K., Stein, M., Kollberg, G., Eliasdottir, O., Lindberg, C., Darin, N., Oldfors, A. (2022) Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant Brain Pathology . 32 (4): e13038 .