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Supplementary data
“Mitochondrial DNA rearrangements in health and disease - a comprehensive study”
Joana Damas, David C Samuels, João Carneiro, António Amorim and Filipe Pereira. 2013. Accepted.
DOI: 10.1002/humu.22452
| Reference | Paper information | PubMed ID or link |
|---|---|---|
| 1 | Bodyak, N.D., et al., Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues. Human Molecular Genetics, 2001. 10(1): p. 17-24. | PM:11136709 |
| 2 | Bouzidi, M. F., et al., Co-existence of high levels of a cytochrome b mutation and of a tandem 200 bp duplication in the D-loop of muscle human mitochondrial DNA. Human Molecular Genetics, 1998. 7(3): p. 385-391 | PM:9466994 |
| 3 | Tang, Y., et al., Rearrangements of human mitochondrial DNA (mtDNA): new insights into the regulation of mtDNA copy number and gene expression. Mol Biol Cell, 2000. 11(4): p. 1471-85. | PM:10749943 |
| 4 | Houshmand, M., et al., Different tissue distribution of a mitochondrial DNA duplication and the correpondimg deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood. Neuromuscular disorders, 2004. 14: p. 195-201. | PM:15036329 |
| 5 | Fromenty, B., et al., High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart. American Journal of Medical Genetics, 1997. 71: p. 443-452, | PM:9286453 |
| 6 | Brockington, M., et al., A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies. Nature Genetics, 1993. 4(1): p. 67-71. | PM:8513327 |
| 7 | Manfredi, G., et al., Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic?. Annals of Neurology, 1997. 42(2): p. 180-188. | PM:9266727 |
| 8 | Tengan, C.H., et al., Frequency of duplications in the D-loop in patients with mitochondrial DNA deletions. Biochimica Et Biophysica Acta, 2002. 1588(1): p. 65-70. | PM:12379315 |
| 9 | Poltoun, J., et al., Tandem direct duplications of mitochondrial DNA in mitochondrial myopathy: analysis of nucleotide sequence and tissue distribution. Nucleic Acids Research, 1989. 17(24): p. 10223-10229. | PM:2602151 |
| 10 | Poltoun, J., et al., Restriction enzyme analysis of the mitochondrial genome in mitochondrial myopathy. Journal of Medical Genetics, 1988. 25(9): p. 600-605 | PM:2903249 |
| 11 | Schurr, T.G., et al., Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary maternal lineages. American Journal of Human Genetics, 1990. 46(3): p. 613-623. | PM:1968708 |
| 12 | Kleinle, S., et al., Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR. Human Genetics, 1997. 100(5-6): p. 643-50. | PM:9341886 |
| 13 | Dunbar, D. R., Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus. Human Molecular Genetics, 1993. 2(10): p. 1619-1624. | PM:8268914 |
| 14 | Poulton, J., et al., Duplications of mitochondrial DNA: Implications in pathogenesis. J. Inher. Metab. Dis, 1992. 15: p. 487-498. | PM:1528009 |
| 15 | Marchington, D. R., et al., Evidence from human oocytes for a genetic bottleneck in an mtDNA disease. Am. J. Hum. Gen, 1998. 63: p. 769-775. | PM:9718339 |
| 16 | Puoti, G., et al., Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son. J Med Genet, 2003. 40: p. 585-863. | PM:14627683 |
| 17 | Wong, L-J. C., et al., Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load. J Med Genet, 2003. 10: p. e125. | PM:14627692 |
| 18 | Wei, Y-H., et al., Oxidative stress, mitochondrial DNA mutation, and impairment of antioxidant enzymes in aging. Experimental biology and medicine, 2002. 227: p. 671-682. | PM:12324649 |
| 19 | Muraki, K., et al., Clinical implications of duplicated mtDNA in Pearson syndrome. American Journal of Medical Genetics, 2001. 98: p. 205-209. | PM:11169556 |
| 20 | Tengan, C. H., et al., Mitochondrial encephalomyopathy and hypoparathyrodism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid. Journal of clinical endocrinology and metabolism, 1998. 83(1): p. 125-129. | PM:9435428 |
| 21 | Mancuso, M., et la., A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome. J Med Genet, 2004. 41: p.e73. | PM:15173239 |
| 22 | Tang, Y., et al., Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines. Molecular biology of the cell, 2000. 11: p.2349-2358. | PM:10888673 |
| 23 | Ballinger, S. W., et al., Mitochondrial diabetes revisited. Nature, 1994. 7: p.458-459. | PM:7951312 |
| 24 | Poulton, J., et al., Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form. Human Molecular Genetics, 1993. 2(1): p. 23-30. | PM:8490619 |
| 25 | Ferlin, T., et al., Detection of mitochondrial DNA deletions by a screening procedure using the polymerase chain reaction. Molecular and Cellular Biochemistry, 1997. 174: p. 221-225. | PM:9309691 |
| 26 | Kraunch, G., et al., Pearson Marrow-Pancreas syndrome with worsening cardiac function caused by pleotropic rearrangement of mitochondrial DNA. American Journal of Medical Genetics, 2002. 110: p. 57-61. | PM:12116272 |
| 27 | Odoardi, F., et al., Pathogenic role of mtDNA duplications in mitochondrial diseases associated with mtDNA deletions. American Journal of Medical Genetics, 2003. 118A: p. 247-254. | PM:12673655 |
| 28 | Fromenty, B., et al., Efficient and specific amplification of identified partial duplications of human mitochondrial DNA by long PCR. Biochimica et Biophysica Acta. 1993. 1308: p. 222-230. | PM:8809114 |
| 29 | Wilichowski, E., et al., Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre Syndrome. Pediatric Research. 1997. 41: p. 193-200. | PM:9029638 |
| 30 | Torroni, A., et al., mtDNA and the origin of caucasians: identification of ancient caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-Loop region. American Journal of Human Genetics. 1994. 55: p. 760-776. | PM:7942855 |