MITOMAP References for Somatic Polymorphism T-G at 414

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1 10531063 1999 Michikawa, Y., Mazzucchelli, F., Bresolin, N., Scarlato, G., Attardi, G. (1999) Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication Science . 286 (5440): 774-779 .
2 11058135 2000 Murdock, D. G., Christacos, N. C., Wallace, D. C. (2000) The age-related accumulation of a mitochondrial DNA control region mutation in muscle, but not brain, detected by a sensitive PNA-directed PCR clamping based method Nucleic Acids Research . 28 (21): 4350-4355 .
3 12220698 2002 Del Bo, R., Bordoni, A., Boneschi, F.M., Crimi, M., Sciacco, M., Bresolin, N., Scarlato, G., Comi, G.P. (2002) Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients Journal of the Neurological Sciences . 202 (40545): 85-91 .
4 11198288 2001 Del Bo, R., Comi, G. P., Perini, M. P., Strazzer, S., Bresolin, N., Scarlato, G. (2001) Down's syndrome fibroblasts anticipate the accumulation of specific ageing-related mtDNA mutations Annals of Neurology . 49 (1): 137-138 .
5 NA 2001 Del Bo, R., Sciacco, M., Crimi, M., Napoli, L., Bresolin, N., Scarlato, G., Comi, G. P. (2001) Somatic ageing-related mutations in the human mtDNA control region from normal muscles: a single-fiber study Mitochondrion . 1 (Suppl 1): S44 .
6 16120306 2002 Attardi, G. (2002) Role of mitochondrial DNA in human aging Mitochondrion . 2 (40545): 27-37 .
7 11274426 2001 Wang, Y., Michikawa, Y., Mallidis, C., Bai, Y., Woodhouse, L., Yarasheski, K. E., Miller, C. A., Askanas, V., Engel, W. K., Bhasin, S., Attardi, G. (2001) Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication Proceedings of the National Academy of Sciences of the United States of America . 98 (7): 4022-4027 .
8 12606714 2003 Coskun, P. E., Ruiz-Pesini, E. E., Wallace, D. C. (2003) Control region mtDNA variants: longevity, climatic adaptation and a forensic conundrum Proceedings of the National Academy of Sciences of the United States of America . 100 (5): 2174-2176 .
9 15247418 2004 Coskun, P. E., Beal, M. F., Wallace, D. C. (2004) Somatic mitochondrial DNA control region mutations are prevalent in Alzheimer Disease brains Proceedings of the National Academy of Sciences of the United States of America . 101 (29): 10726-10731 .
10 12804188 2000 Barritt, J. A., Cohen, J., Brenner, C. A. (2000) Mitochondrial DNA point mutation in human oocytes is associated with maternal age Reproductive Biomedicine Online . 1 (3): 96-100 .
11 19052564 2009 Birket, M. J., Passos, J. F., von Zglinicki, T., Birch-Machin, M. A. (2009) The relationship between the aging- and photo-dependent T414G mitochondrial DNA mutation with cellular senescence and reactive oxygen species production in cultured skin fibroblasts Journal of Investigative Dermatology . 129 (6): 1361-1366 .
12 24244193 2013 Samuels, D. C., Li, C., Li, B., Song, Z., Torstenson, E., Boyd Clay, H., Rokas, A., Thornton-Wells, T. A., Moore, J. H., Hughes, T. M., Hoffman, R. D., Haines, J. L., Murdock, D. G., Mortlock, D. P., Williams, S. M. (2013) Recurrent tissue-specific mtDNA mutations are common in humans PLoS Genetics . 9 (11): e1003929 .
13 15328912 1999 Michikawa, Y., Laderman, K., Richter, K., Attardi, G. (1999) Role of nuclear background and in vivo environment in variable segregation behavior of the aging-dependent T414G mutation at critical control site for human fibroblast mtDNA replication Somatic Cell and Molecular Genetics . 25 (40669): 333-342 .
14 12927765 2003 Del Bo, R., Crimi, M., Sciacco, M., Malferrari, G., Bordoni, A., Napoli, L., Prelle, A., Biunno, I., Moggio, M., Bresolin, N., Scarlato, G., Pietro Comi, G. (2003) High mutational burden in the mtDNA control region from aged muscles: a single-fiber study Neurobiology of Aging . 24 (6): 829-838 .
15 14557557 2003 Del Bo, R., Bordoni, A., Sciacco, M., Di Fonzo, A., Galbiati, S., Crimi, M., Bresolin, N., Comi, G. P. (2003) Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain Neurology . 61 (7): 903-908 .
16 19076427 2008 Reeve, A. K., Krishnan, K. J., Turnbull, D. (2008) Mitochondrial DNA mutations in disease, aging, and neurodegeneration Annals of the New York Academy of Sciences . 1147 (-): 21-29 .
17 18796524 2008 Seibel, P., Di Nunno, C., Kukat, C., Schafer, I., Del Bo, R., Bordoni, A., Comi, G. P., Schon, A., Capuano, F., Latorre, D., Villani, G. (2008) Cosegregation of novel mitochondrial 16S rRNA gene mutations with the age-associated T414G variant in human cybrids Nucleic Acids Research . 36 (18): 5872-5881 .
18 33453104 2021 Gary, A. S., Dorr, M. M., Rochette, P. J. (2021) The T414G mitochondrial DNA mutation: a biomarker of ageing in human eye Mutagenesis . 36 (2): 187-192 .