MITOMAP References for Variant T616C at 616

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Index PMID Date Reference
1 20142618 2010 Zsurka, G., Hampel, K. G., Nelson, I., Jardel, C., Mirandola, S. R., Sassen, R., Kornblum, C., Marcorelles, P., Lavoue, S., Lombes, A., Kunz, W. S. (2010) Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene Neurology . 74 (6): 507-512 .
2 28267784 2017 Connor, T. M., Hoer, S., Mallett, A., Gale, D. P., Gomez-Duran, A., Posse, V., Antrobus, R., Moreno, P., Sciacovelli, M., Frezza, C., Duff, J., Sheerin, N. S., Sayer, J. A., Ashcroft, M., Wiesener, M. S., Hudson, G., Gustafsson, C. M., Chinnery, P. F., Maxwell, P. H. (2017) Mutations in mitochondrial DNA causing tubulointerstitial kidney disease PLoS Genetics . 13 (3): e1006620 .
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 31722346 2020 Lorenz, R., Ahting, U., Betzler, C., Heimering, S., Borggrafe, I., Lange-Sperandio, B. (2020) Homoplasmy of the mitochondrial DNA mutation m.616T>C leads to mitochondrial tubulointerstitial kidney disease and encephalopathia Nephron . 144 (3): 156-160 .
5 35472031 2022 Xu, C., Tong, L., Rao, J., Ye, Q., Chen, Y., Zhang, Y., Xu, J., Mao, X., Meng, F., Shen, H., Lu, Z., Cang, X., Fu, H., Wang, S., Gu, W., Lai, E. Y., Guan, M. X., Jiang, P., Mao, J. (2022) Heteroplasmic and homoplasmic m.616T>C in mitochondria tRNAPhe promote isolated chronic kidney disease and hyperuricemia JCI Insight . 7 (11): .
6 34607911 2022 Viering, D., Schlingmann, K. P., Hureaux, M., Nijenhuis, T., Mallett, A., Chan, M. M. Y., van Beek, A., van Eerde, A. M., Coulibaly, J. M., Vallet, M., Decramer, S., Pelletier, S., Klaus, G., Komhoff, M., Beetz, R., Patel, C., Shenoy, M., Steenbergen, E. J., Anderson, G., Bongers, E., Bergmann, C., Panneman, D., Rodenburg, R. J., Kleta, R., Houillier, P., Konrad, M., Vargas-Poussou, R., Knoers, N., Bockenhauer, D., de Baaij, J. H. F., Genomics England Research Consortium (2022) Gitelman-like syndrome caused by pathogenic variants in mtDNA Journal of the American Society of Nephrology . 33 (2): 305-325 .