MITOMAP References for Somatic Polymorphism (N)ins at 8469:13447

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1 1303288 1992 Corral-Debrinski, M., Horton, T., Lott, M.T., Shoffner, J.M., Beal, M.F., Wallace, D.C. (1992) Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age Nature Genetics . 2 (4): 324-329 .
2 1890710 1991 Corral-Debrinski, M., Stepien, G., Shoffner, J.M., Lott, M.T., Kanter, K., Wallace, D.C. (1991) Hypoxemia is associated with mitochondrial DNA damage and gene induction JAMA . 266 (13): 1812-1816 .
3 7835898 1994 Corral-Debrinski, M., Horton, T., Lott, M.T., Shoffner, J.M., McKee, A.C., Beal, M.F., Graham, B.H., Wallace, D.C. (1994) Marked changes in mitochondrial DNA deletion levels in Alzheimer brains Genomics . 23 (2): 471-476 .
4 NA 1992 Cortopassi, G., Arnheim, N. (1992) Accumulation of mitochondrial DNA mutation in normal aging brain and muscle Mitochondrial DNA in Human Pathology DiMauro, S., Wallace, D.C. (.): 125-136 Raven Press
5 2390073 1990 Ikebe, S., Tanaka, M., Ohno, K., Sato, W., Hattori, K., Kondo, T., Mizuno, Y., Ozawa, T. (1990) Increase of deleted mitochondrial DNA in the striatum in Parkinson's disease and senescence Biochemical and Biophysical Research Communications . 170 (3): 1044-1048 .
6 8155737 1994 Lee, H.C., Pang, C.Y., Hsu, H.S., Wei, Y.H. (1994) Differential accumulations of 4,977 bp deletion in mitochondrial DNA of various tissues in human ageing Biochimica et Biophysica Acta . 1226 (1): 37-43 .
7 2554297 1989 Shoffner, J. M., Lott, M. T., Voljavec, A. S., Soueidan, S. A., Costigan, D. A., Wallace, D. C. (1989) Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy Proceedings of the National Academy of Sciences of the United States of America . 86 (20): 7952-7956 .
8 1463763 1992 Simonetti, S., Chen, X., DiMauro, S., Schon, E.A. (1992) Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR Biochimica et Biophysica Acta . 1180 (2): 113-122 .
9 1303287 1992 Soong, N.W., Hinton, D.R., Cortopassi, G., Arnheim, N. (1992) Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain Nature Genetics . 2 (4): 318-323 .
10 1383757 1992 Wei, Y. H. (1992) Mitochondrial DNA alterations as ageing-associated molecular events Mutation Research . 275 (40608): 145-155 .
11 7957906 1994 Lee, H.C., Pang, C.Y., Hsu, H.S., Wei, Y.H. (1994) Ageing-associated tandem duplications in the D-loop of mitochondrial DNA of human muscle FEBS Letters . 354 (1): 79-83 .
12 7818280 1994 Yang, J.H., Lee, H.C., Lin, K.J., Wei, Y.H. (1994) A specific 4977-bp deletion of mitochondrial DNA in human ageing skin Archives of Dermatological Research . 286 (7): 386-390 .
13 9233484 1997 Bai, U., Seidman, M.D., Hinojosa, R., Quirk, W.S. (1997) Mitochondrial DNA deletions associated with aging and possibly presbycusis: a human archival temporal bone study American Journal of Otology . 18 (4): 449-453 .
14 9359971 1997 Kato, T., Stine, O.C., McMahon, F.J., Crowe, R.R. (1997) Increased levels of a mitochondrial DNA deletion in the brain of patients with bipolar disorder Biological Psychiatry . 42 (10): 871-875 .
15 10051601 1998 Ito, S., Ohta, S., Nishimaki, K., Kagawa, Y., Soma, R., Kuno, S., Komatsuzaki, Y., Mizusawa, H., Hayashi, J.I. (1998) Functional integrity of mitochondrial genomes in human platelets and autopsied brain tissues from elderly patients with Alzheimer's disease Proceedings of the National Academy of Sciences of the United States of America . 96 (5): 2099-2103 .
16 9989940 1999 Lee, H. C., Lim, M. L., Lu, C. Y., Liu, V. W., Fahn, H. J., Zhang, C., Nagley, P., Wei, Y. H. (1999) Concurrent increase of oxidative DNA damage and lipid peroxidation together with mitochondrial DNA mutation in human lung tissues during aging--smoking enhances oxidative stress on the aged tissues Archives of Biochemistry and Biophysics . 362 (2): 309-316 .
17 11368920 2001 Pesce, V., Cormio, A., Fracasso, F., Vecchiet, J., Felzani, G., Lezza, A. M., Cantatore, P., Gadaleta, M. N. (2001) Age-related mitochondrial genotypic and phenotypic alterations in human skeletal muscle Free Radical Biology and Medicine . 30 (11): 1223-1233 .
18 12031622 2002 Fayet, G., Jansson, M., Sternberg, D., Moslemi, A.R., Blondy, P., Lombes, A., Fardeau, M., Oldfors, A. (2002) Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function Neuromuscular Disorders . 12 (5): 484-493 .
19 16604072 2006 Kraytsberg, Y., Kudryavtseva, E., McKee, A. C., Geula, C., Kowall, N. W., Khrapko, K. (2006) Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons Nature Genetics . 38 (5): 518-520 .
20 20816876 2010 Lee, H. C., Chang, C. M., Chi, C. W. (2010) Somatic mutations of mitochondrial DNA in aging and cancer progression Ageing Research Reviews . 9 Suppl 1 (): S47-S58 .
21 26215577 2015 Quan, C., Cho, M. K., Perry, D., Quan, T. (2015) Age-associated reduction of cell spreading induces mitochondrial DNA common deletion by oxidative stress in human skin dermal fibroblasts: implication for human skin connective tissue aging Journal of Biomedical Science . 22 (1): 62 .
22 14753755 2003 Liu, C. S., Tsai, C. S., Kuo, C. L., Chen, H. W., Lii, C. K., Ma, Y. S., Wei, Y. H. (2003) Oxidative stress-related alteration of the copy number of mitochondrial DNA in human leukocytes Free Radical Research . 37 (12): 1307-1317 .
23 12742534 2003 Thayer, R. E., Wittock, R., Parr, R., Zullo, S., Birch-Machin, M. A. (2003) A maternal line study investigating the 4977-bp mitochondrial DNA deletion Experimental Gerontology . 38 (5): 567-571 .
24 12089377 2002 Yamagata, K., Muro, K., Usui, J., Hagiwara, M., Kai, H., Arakawa, Y., Shimizu, Y., Tomida, C., Hirayama, K., Kobayashi, M., Koyama, A. (2002) Mitochondrial DNA mutations in focal segmental glomerulosclerosis lesions Journal of the American Society of Nephrology . 13 (7): 1816-1823 .
25 15109774 2004 Samuels, D. C. (2004) Mitochondrial DNA repeats constrain the life span of mammals Trends in Genetics . 20 (5): 226-229 .
26 16120337 2003 Pogozelski, W. K., Hamel, C. J. C., Woeller, C. F., Jackson, W. E., Zullo, S. J., Fischel-Ghodsian, N., Blakely, W. F. (2003) Quantification of total mitochondrial DNA and the 4977-bp common deletion in Pearson's syndrome lymphoblasts using a fluorogenic 5'-nuclease (TaqMan(TM)) real-time polymerase chain reaction assay and plasmid external calibration standards Mitochondrion . 2 (6): 415-427 .
27 16167362 2005 Brandstatter, A., Sanger, T., Lutz-Bonengel, S., Parson, W., Beraud-Colomb, E., Wen, B., Kong, Q. P., Bravi, C. M., Bandelt, H. J. (2005) Phantom mutation hotspots in human mitochondrial DNA Electrophoresis . 26 (18): 3414-3429 .
28 2069552 1991 Yen, T. C., Su, J. H., King, K. L., Wei, Y. H. (1991) Ageing-associated 5 kb deletion in human liver mitochondrial DNA Biochemical and Biophysical Research Communications . 178 (1): 124-131 .
29 16530527 2006 Giordano, C., Sebastiani, M., Plazzi, G., Travaglini, C., Sale, P., Pinti, M., Tancredi, A., Liguori, R., Montagna, P., Bellan, M., Valentino, M. L., Cossarizza, A., Hirano, M., d'Amati, G., Carelli, V. (2006) Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine Gastroenterology . 130 (3): 893-901 .
30 18197537 2008 Rossato, L. B., Nunes, A. C., Pereira, M. L., de Souza, C. F., Dummer, C., Milani, V., Porsch, D. B., de Mattos, C. B., Barros, E. J. (2008) Prevalence of 4977bp deletion in mitochondrial DNA from patients with chronic kidney disease receiving conservative treatment or hemodialysis in southern Brazil Renal Failure . 30 (1): 9-14 .
31 17989728 2008 Reimann, V., Kramer, U., Sugiri, D., Schroeder, P., Hoffmann, B., Medve-Koenigs, K., Jockel, K. H., Ranft, U., Krutmann, J. (2008) Sunbed use induces the photoaging-associated mitochondrial common deletion Journal of Investigative Dermatology . 128 (5): 1294-1297 .
32 18242646 2008 Markaryan, A., Nelson, E. G., Hinojosa, R. (2008) Detection of mitochondrial DNA deletions in the cochlea and its structural elements from archival human temporal bone tissue Mutation Research . 640 (40545): 38-45 .
33 18428021 2008 Shao, L., Martin, M. V., Watson, S. J., Schatzberg, A., Akil, H., Myers, R. M., Jones, E. G., Bunney, W. E., Vawter, M. P. (2008) Mitochondrial involvement in psychiatric disorders Annals of Medicine . 40 (4): 281-295 .
34 8656967 1996 Seidman, M. D., Bai, U., Khan, M. J., Murphy, M. J., Quirk, W. S., Castora, F. L., Hinojosa, R. (1996) Association of mitochondrial DNA deletions and cochlear pathology: a molecular biologic tool Laryngoscope . 106 (6): 777-783 .
35 11423217 2001 Bai, U., Seidman, M. D. (2001) A specific mitochondrial DNA deletion (mtDNA4977) is identified in a pedigree of a family with hearing loss Hearing Research . 154 (40545): 73-80 .
36 17541740 2008 Ye, C., Shu, X. O., Wen, W., Pierce, L., Courtney, R., Gao, Y. T., Zheng, W., Cai, Q. (2008) Quantitative analysis of mitochondrial DNA 4977-bp deletion in sporadic breast cancer and benign breast diseases Breast Cancer Research and Treatment . 108 (3): 427-434 .
37 18337828 2008 Schroeder, P., Gremmel, T., Berneburg, M., Krutmann, J. (2008) Partial depletion of mitochondrial DNA from human skin fibroblasts induces a gene expression profile reminiscent of photoaged skin Journal of Investigative Dermatology . 128 (9): 2297-2303 .
38 8530074 1995 Cavelier, L., Jazin, E. E., Eriksson, I., Prince, J., Bave, U., Oreland, L., Gyllensten, U. (1995) Decreased cytochrome-c oxidase activity and lack of age-related accumulation of mitochondrial DNA deletions in the brains of schizophrenics Genomics . 29 (1): 217-224 .
39 16624514 2006 Meissner, C., Bruse, P., Oehmichen, M. (2006) Tissue-specific deletion patterns of the mitochondrial genome with advancing age Experimental Gerontology . 41 (5): 518-524 .
40 19360290 2009 Tseng, L. M., Yin, P. H., Tsai, Y. F., Chi, C. W., Wu, C. W., Lee, L. M., Lee, H. C. (2009) Association between mitochondrial DNA 4,977 bp deletion and NAD(P)H:quinone oxidoreductase 1 C609T polymorphism in human breast tissues Oncology Reports . 21 (5): 1169-1174 .
41 24339796 2013 Williams, S. L., Mash, D. C., Zuchner, S., Moraes, C. T. (2013) Somatic mtDNA mutation spectra in the aging human putamen PLoS Genetics . 9 (12): e1003990 .