MITOMAP References for Variant T>C at 8843

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Index PMID Date Reference
1 11349229 2001 Finnila, S., Lehtonen, M. S., Majamaa, K. (2001) Phylogenetic network for European mtDNA American Journal of Human Genetics . 68 (6): 1475-1484 .
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 16120352 2003 Poetsch, M., Wittig, H., Krause, D., Lignitz, E. (2003) The impact of mtDNA analysis between positions nt8306 and nt9021 for forensic casework Mitochondrion . 3 (3): 133-137 .
4 16044424 2005 Esteitie, N., Hinttala, R., Wibom, R., Nilsson, H., Hance, N., Naess, K., Tear-Fahnehjelm, K., von Dobeln, U., Majamaa, K., Larsson, N. G. (2005) Secondary metabolic effects in complex I deficiency Annals of Neurology . 58 (4): 544-552 .
5 19370763 2009 Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 .
6 20304802 2010 van Oven, M. (2010) Revision of the mtDNA tree and corresponding haplogroup nomenclature Proceedings of the National Academy of Sciences of the United States of America . 107 (11): E38-E39; author reply E40-E41 .
7 21978175 2011 Kumar, S., Bellis, C., Zlojutro, M., Melton, P. E., Blangero, J., Curran, J. E. (2011) Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins BMC Evolutionary Biology . 11 (): 293 .
8 22108605 2012 Bedford, F. L. (2012) Sephardic signature in haplogroup T mitochondrial DNA European Journal of Human Genetics . 20 (4): 441-448 .
9 22312186 2012 Roshan, M., Kabekkodu, S. P., Vijaya, P. H., Manjunath, K., Graw, J., Gopinath, P. M., Satyamoorthy, K. (2012) Analysis of mitochondrial DNA variations in Indian patients with congenital cataract Molecular Vision . 18 (): 181-193 .
10 23563965 2013 Levin, L., Zhidkov, I., Gurman, Y., Hawlena, H., Mishmar, D. (2013) Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease Genome Biology and Evolution . 5 (5): 876-890 .
11 24002810 2013 Kang, L., Zheng, H. X., Chen, F., Yan, S., Liu, K., Qin, Z., Liu, L., Zhao, Z., Li, L., Wang, X., He, Y., Jin, L. (2013) mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands. [Supplementary Materials online.] Molecular Biology and Evolution . 30 (12): 2579-2587 .
12 NA 2014 van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .
13 30763462 2019 Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 .
14 31152278 2020 Kytovuori, L., Junttila, J., Huikuri, H., Keinanen-Kiukaanniemi, S., Majamaa, K., Martikainen, M. H. (2020) Mitochondrial DNA variation in sudden cardiac death: a population-based study International Journal of Legal Medicine . 134 (1): 39-44 .
15 37083953 2023 Baranowska, E., Niedzwiecka, K., Panja, C., Charles, C., Dautant, A., Poznanski, J., di Rago, J. P., Tribouillard-Tanvier, D., Kucharczyk, R. (2023) Probing the pathogenicity of patient-derived variants of MT-ATP6 in yeast Disease Models and Mechanisms . 16 (4): dmm049783 .