MITOMAP References for Variant C>T at 8468

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Index PMID Date Reference
1 8254046 1993 Moraes, C. T., Ciacci, F., Bonilla, E., Jansen, C., Hirano, M., Rao, N., Lovelace, R. E., Rowland, L. P., Schon, E. A., DiMauro, S. (1993) Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNALeu(UUR) gene an etiologic hot spot? Journal of Clinical Investigation . 92 (6): 2906-2915 .
2 11938495 2002 Herrnstadt, C., Elson, J. L., Fahy, E., Preston, G., Turnbull, D. M., Anderson, C., Ghosh, S. S., Olefsky, J. M., Beal, M. F., Davis, R. E., Howell, N. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups American Journal of Human Genetics . 70 (5): 1152-1171 .
3 15382008 2004 Achilli, A., Rengo, C., Magri, C., Battaglia, V., Olivieri, A., Scozzari, R., Cruciani, F., Zeviani, M., Briem, E., Carelli, V., Moral, P., Dugoujon, J. M., Roostalu, U., Loogvali, E. L., Kivisild, T., Bandelt, H. J., Richards, M., Villems, R., Santachiara-Benerecetti, A. S., Semino, O., Torroni, A. (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool American Journal of Human Genetics . 75 (5): 910-918 .
4 15771256 2005 Malyarchuk, B. A. (2005) [Distribution of nucleotide substitutions in human mitochondrial DNA genes] Genetika . 41 (1): 93-99 .
5 16172508 2006 Kivisild, T., Shen, P., Wall, D. P., Do, B., Sung, R., Davis, K., Passarino, G., Underhill, P. A., Scharfe, C., Torroni, A., Scozzari, R., Modiano, D., Coppa, A., de Knijff, P., Feldman, M., Cavalli-Sforza, L. L., Oefner, P. J. (2006) The role of selection in the evolution of human mitochondrial genomes Genetics . 172 (1): 373-387 .
6 NA 2007 Logan, I. (2007) A suggested genome for “Mitochondrial Eve”. http://www.jogg.info/32/logan.htm Journal of Genetic Genealogy . 3 (2): 72-77 .
7 21034508 2010 Palanichamy, M. G., Zhang, Y. P. (2010) Potential pitfalls in MitoChip detected tumor-specific somatic mutations: a call for caution when interpreting patient data BMC Cancer . 10 (): 597 .
8 21041797 2011 Batini, C., Lopes, J., Behar, D. M., Calafell, F., Jorde, L. B., van der Veen, L., Quintana-Murci, L., Spedini, G., Destro-Bisol, G., Comas, D. (2011) Insights into the demographic history of African Pygmies from complete mitochondrial genomes Molecular Biology and Evolution . 28 (2): 1099-1110 .
9 21625124 2011 Zarrouk Mahjoub, S., Mehri, S., Ourda, F., Boussaada, R., Mechmeche, R., Arab, S. B., Finsterer, J. (2011) Transition m.3308T>C in the ND1 gene is associated with left ventricular hypertrabeculation/noncompaction Cardiology . 118 (3): 153-158 .
10 21741027 2011 Shah, A. M., Tamang, R., Moorjani, P., Rani, D. S., Govindaraj, P., Kulkarni, G., Bhattacharya, T., Mustak, M. S., Bhaskar, L. V., Reddy, A. G., Gadhvi, D., Gai, P. B., Chaubey, G., Patterson, N., Reich, D., Tyler-Smith, C., Singh, L., Thangaraj, K. (2011) Indian Siddis: African descendants with Indian admixture American Journal of Human Genetics . 89 (1): 154-161 .
11 NA 2014 van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .
12 25941154 2015 Hirose, M., Schilf, P., Benoit, S., Eming, R., Glaser, R., Homey, B., Kunz, M., Nebel, A., Peitsch, W. K., Pfohler, C., Sardy, M., Schreiber, S., Zillikens, D., Schmidt, E., Ibrahim, S. M., German, A. G. S. G. (2015) Polymorphisms in the mitochondrially encoded ATP synthase 8 gene are associated with susceptibility to bullous pemphigoid in the German population Experimental Dermatology . 24 (9): 715-717 .
13 32094358 2020 Marcus, J. H., Posth, C., Ringbauer, H., Lai, L., Skeates, R., Sidore, C., Beckett, J., Furtwangler, A., Olivieri, A., Chiang, C. W. K., Al-Asadi, H., Dey, K., Joseph, T. A., Liu, C. C., Der Sarkissian, C., Radzeviciute, R., Michel, M., Gradoli, M. G., Marongiu, P., Rubino, S., Mazzarello, V., Rovina, D., La Fragola, A., Serra, R. M., Bandiera, P., Bianucci, R., Pompianu, E., Murgia, C., Guirguis, M., Orquin, R. P., Tuross, N., van Dommelen, P., Haak, W., Reich, D., Schlessinger, D., Cucca, F., Krause, J., Novembre, J. (2020) Genetic history from the Middle Neolithic to present on the Mediterranean island of Sardinia Nature Communications . 11 (1): 939 .