MITOMAP References for Variant C>T at 8393

Download PMID list

Index PMID Date Reference
1 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 .
2 12802679 2003 Lehtonen, M. S., Moilanen, J. S., Majamaa, K. (2003) Increased variation in mtDNA in patients with familial sensorineural hearing impairment Human Genetics . 113 (3): 220-227 .
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 15338331 2004 Mostafaie, N., Rossmanith, W., Hombauer, H., Dechat, T., Raffelsberger, T., Bauer, K., Worofka, B., Kittl, E., Hofmann, J., Hejtman, M., Kirchmeyr, W., Schreiber, W., Weissgram, S., Jungwirth, S., Fischer, P., Bittner, R., Huber, K. (2004) Mitochondrial genotype and risk for Alzheimer's disease: cross-sectional data from the Vienna-Transdanube-Aging "VITA" study Journal of Neural Transmission . 111 (9): 1155-1165 .
5 16050984 2005 Povalko, N., Zakharova, E., Rudenskaia, G., Akita, Y., Hirata, K., Toyojiro, M., Koga, Y. (2005) A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy Mitochondrion . 5 (3): 194-199 .
6 16901986 2006 Fraumene, C., Belle, E. M., Castri, L., Sanna, S., Mancosu, G., Cosso, M., Marras, F., Barbujani, G., Pirastu, M., Angius, A. (2006) High resolution analysis and phylogenetic network construction using complete mtDNA sequences in Sardinian genetic isolates Molecular Biology and Evolution . 23 (11): 2101-2111 .
7 17101920 2006 Galimberti, C. A., Diegoli, M., Sartori, I., Uggetti, C., Brega, A., Tartara, A., Arbustini, E. (2006) Brain pseudoatrophy and mental regression on valproate and a mitochondrial DNA mutation Neurology . 67 (9): 1715-1717 .
8 21457906 2011 Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 .
9 NA 2014 van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .
10 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 .
11 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 .