ゲノム不安定性 (Japanese Wikipedia)

Analysis of information sources in references of the Wikipedia article "ゲノム不安定性" in Japanese language version.

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doi.org

Darmon, E; Leach, DRF (2014). “Bacterial Genome Instability”. Microbiol. Mol. Biol. Rev. 78 (1): 1–39. doi:10.1128/MMBR.00035-13. PMC 3957733. PMID 24600039.
Keightley PD (February 2012). “Rates and fitness consequences of new mutations in humans”. Genetics 190 (2): 295–304. doi:10.1534/genetics.111.134668. PMC 3276617. PMID 22345605.
Aguilera, A.; Klein, H. L. (1988-08). “Genetic control of intrachromosomal recombination in Saccharomyces cerevisiae. I. Isolation and genetic characterization of hyper-recombination mutations”. Genetics 119 (4): 779–790. doi:10.1093/genetics/119.4.779. ISSN 0016-6731. PMC 1203464. PMID 3044923.
Cobb, J. A. (Dec 2005). “Replisome instability, fork collapse, and gross chromosomal rearrangements arise synergistically from Mec1 kinase and RecQ helicase mutations”. Genes & Development 19 (24): 3055–3069. doi:10.1101/gad.361805. PMC 1315408. PMID 16357221.
Cortes-Ledesma, Felipe; Aguilera, Andres (Sep 2006). “Double-strand breaks arising from replication through a nick are repaired by cohesin-dependent sister-chromatid exchange”. EMBO Reports 7 (9): 919–926. doi:10.1038/sj.embor.7400774. PMC 1559660. PMID 16888651.
Weinert, T. A.; Hartwell, L. H. (May 1993). “Cell cycle arrest of cdc mutants and specificity of the RAD9 checkpoint”. Genetics 134 (1): 63–80. doi:10.1093/genetics/134.1.63. PMC 1205445. PMID 8514150.
Durkin, Sandra G.; Glover, Thomas W. (Dec 2007). “Chromosome Fragile Sites”. Annual Review of Genetics 41 (1): 169–192. doi:10.1146/annurev.genet.41.042007.165900. PMID 17608616.
Grabczyk, E.; Mancuso, M.; Sammarco, M. C. (Aug 2007). “A persistent RNA-DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro”. Nucleic Acids Research 35 (16): 5351–5359. doi:10.1093/nar/gkm589. PMC 2018641. PMID 17693431.
Trautinger, Brigitte W.; Jaktaji, Razieh P.; Rusakova, Ekaterina; Lloyd, Robert G. (July 2005). “RNA Polymerase Modulators and DNA Repair Activities Resolve Conflicts between DNA Replication and Transcription”. Molecular Cell 19 (2): 247–258. doi:10.1016/j.molcel.2005.06.004. PMID 16039593.
Schrader, Carol E.; Guikema, Jeroen E. J.; Linehan, Erin K.; Selsing, Erik; Stavnezer, Janet (Nov 2007). “Activation-induced cytidine deaminase-dependent DNA breaks in class switch recombination occur during G1 phase of the cell cycle and depend upon mismatch repair”. Journal of Immunology 179 (9): 6064–6071. doi:10.4049/jimmunol.179.9.6064. PMID 17947680.
Subba Rao, K (2007). “Mechanisms of disease: DNA repair defects and neurological disease”. Nat Clin Pract Neurol 3 (3): 162–72. doi:10.1038/ncpneuro0448. PMID 17342192.
Jeppesen, DK; Bohr, VA; Stevnsner, T (2011). “DNA repair deficiency in neurodegeneration”. Prog Neurobiol 94 (2): 166–200. doi:10.1016/j.pneurobio.2011.04.013. PMC 3123739. PMID 21550379.
Storchova, Z.; Pellman, D. (2004), “From polyploidy to aneuploidy, genome instability and cancer”, Nat Rev Mol Cell Biol 5 (1): 45–54, doi:10.1038/nrm1276, PMID 14708009
Vogelstein B; Papadopoulos N; Velculescu VE; Zhou S; Diaz LA; Kinzler KW (March 2013). “Cancer genome landscapes”. Science 339 (6127): 1546–58. Bibcode: 2013Sci...339.1546V. doi:10.1126/science.1235122. PMC 3749880. PMID 23539594.
Nowak, M. A.; Komarova, N. L.; Sengupta, A.; Jallepalli, P.V.; Shih, I.M.; Vogelstein, B.; Lengauer, C. (2002), “The role of chromosomal instability in tumor initiation”, Proc. Natl. Acad. Sci. USA 99 (25): 16226–31, Bibcode: 2002PNAS...9916226N, doi:10.1073/pnas.202617399, PMC 138593, PMID 12446840
Kinzler, K. W.; Vogelstein, B. (April 1997), “Cancer-susceptibility genes. Gatekeepers and caretakers”, Nature 386 (6627): 761–3, doi:10.1038/386761a0, PMID 9126728
Cahill, D. P.; Kinzler, K. W.; Vogelstein, B.; Lengauer, C. (1999), “Genetic instability and darwinian selection in tumours”, Trends Cell Biol. 9 (12): M57–M60, doi:10.1016/S0168-9525(99)01874-0, PMID 10611684
Hui, T.; Zhen, G.; HuiZhong, L.; BaoFu, Z.; Gang, W.; Qing, Z.; DongSheng, P.; JunNian, Z. (2015), “DNA damage response – A double-edged sword in cancer prevention and cancer therapy”, Cancer Letters 358 (1): 8–16, doi:10.1016/j.canlet.2014.12.038, PMID 25528631
Lander, E. S.; Linton, L. M.; Birren, B.; Nusbaum, C.; Zody, M. C.; Baldwin, J.; Devon, K.; Dewar, K. et al. (2001-02-15). “Initial sequencing and analysis of the human genome”. Nature 409 (6822): 860–921. doi:10.1038/35057062. ISSN 0028-0836. PMID 11237011.
Roach, Jared C.; Glusman, Gustavo; Smit, Arian F. A.; Huff, Chad D.; Hubley, Robert; Shannon, Paul T.; Rowen, Lee; Pant, Krishna P. et al. (2010-04-30). “Analysis of genetic inheritance in a family quartet by whole-genome sequencing”. Science (New York, N.Y.) 328 (5978): 636–639. doi:10.1126/science.1186802. ISSN 1095-9203. PMC 3037280. PMID 20220176.
Campbell, Catarina D.; Chong, Jessica X.; Malig, Maika; Ko, Arthur; Dumont, Beth L.; Han, Lide; Vives, Laura; O'Roak, Brian J. et al. (2012-11). “Estimating the human mutation rate using autozygosity in a founder population”. Nature Genetics 44 (11): 1277–1281. doi:10.1038/ng.2418. ISSN 1546-1718. PMC 3483378. PMID 23001126.
Cunningham, FH; Fiebelkorn, S; Johnson, M; Meredith, C (2011). “A novel application of the Margin of Exposure approach: segregation of tobacco smoke toxicants”. Food Chem Toxicol 49 (11): 2921–2933. doi:10.1016/j.fct.2011.07.019. PMID 21802474.
Cuozzo, C; Porcellini, A; Angrisano, T; Morano, A; Lee, B; Di Pardo, A; Messina, S; Iuliano, R et al. (2007). “DNA damage, homology-directed repair, and DNA methylation”. PLOS Genet 3 (7): e110. doi:10.1371/journal.pgen.0030110. PMC 1913100. PMID 17616978.
O'Hagan, HM; Mohammad, HP; Baylin, SB (2008). “Double strand breaks can initiate gene silencing and SIRT1-dependent onset of DNA methylation in an exogenous promoter CpG island”. PLOS Genet 4 (8): e1000155. doi:10.1371/journal.pgen.1000155. PMC 2491723. PMID 18704159.
Gottschalk, AJ; Timinszky, G; Kong, SE; Jin, J; Cai, Y; Swanson, SK; Washburn, MP; Florens, L et al. (2009). “Poly(ADP-ribosyl)ation directs recruitment and activation of an ATP-dependent chromatin remodeler”. Proc Natl Acad Sci U S A 106 (33): 13770–4. Bibcode: 2009PNAS..10613770G. doi:10.1073/pnas.0906920106. PMC 2722505. PMID 19666485.
Yost SE; Smith EN; Schwab RB; Bao L; Jung H; Wang X; Voest E; Pierce JP et al. (August 2012). “Identification of high-confidence somatic mutations in whole genome sequence of formalin-fixed breast cancer specimens”. Nucleic Acids Res. 40 (14): e107. doi:10.1093/nar/gks299. PMC 3413110. PMID 22492626.
Berger MF; Hodis E; Heffernan TP; Deribe YL; Lawrence MS; Protopopov A; Ivanova E; Watson IR et al. (May 2012). “Melanoma genome sequencing reveals frequent PREX2 mutations”. Nature 485 (7399): 502–6. Bibcode: 2012Natur.485..502B. doi:10.1038/nature11071. PMC 3367798. PMID 22622578.
Narayanan L; Fritzell JA; Baker SM; Liskay RM; Glazer PM (April 1997). “Elevated levels of mutation in multiple tissues of mice deficient in the DNA mismatch repair gene Pms2”. Proc. Natl. Acad. Sci. U.S.A. 94 (7): 3122–7. Bibcode: 1997PNAS...94.3122N. doi:10.1073/pnas.94.7.3122. PMC 20332. PMID 9096356.
Hegan DC; Narayanan L; Jirik FR; Edelmann W; Liskay RM; Glazer PM (December 2006). “Differing patterns of genetic instability in mice deficient in the mismatch repair genes Pms2, Mlh1, Msh2, Msh3 and Msh6”. Carcinogenesis 27 (12): 2402–8. doi:10.1093/carcin/bgl079. PMC 2612936. PMID 16728433.
Tutt AN; van Oostrom CT; Ross GM; van Steeg H; Ashworth A (March 2002). “Disruption of Brca2 increases the spontaneous mutation rate in vivo: synergism with ionizing radiation”. EMBO Rep. 3 (3): 255–60. doi:10.1093/embo-reports/kvf037. PMC 1084010. PMID 11850397.
Halford S; Rowan A; Sawyer E; Talbot I; Tomlinson I (June 2005). “O(6)-methylguanine methyltransferase in colorectal cancers: detection of mutations, loss of expression, and weak association with G:C>A:T transitions”. Gut 54 (6): 797–802. doi:10.1136/gut.2004.059535. PMC 1774551. PMID 15888787.
Truninger, K; Menigatti, M; Luz, J; Russell, A; Haider, R; Gebbers, JO; Bannwart, F; Yurtsever, H et al. (2005). “Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer”. Gastroenterology 128 (5): 1160–1171. doi:10.1053/j.gastro.2005.01.056. PMID 15887099.
Valeri, N; Gasparini, P; Fabbri, M; Braconi, C; Veronese, A; Lovat, F; Adair, B; Vannini, I et al. (2010). “Modulation of mismatch repair and genomic stability by miR-155”. Proc Natl Acad Sci USA 107 (15): 6982–6987. Bibcode: 2010PNAS..107.6982V. doi:10.1073/pnas.1002472107. PMC 2872463. PMID 20351277.
Facista, A; Nguyen, H; Lewis, C; Prasad, AR; Ramsey, L; Zaitlin, B; Nfonsam, V; Krouse, RS et al. (2012). “Deficient expression of DNA repair enzymes in early progression to sporadic colon cancer”. Genome Integr 3 (1): 3. doi:10.1186/2041-9414-3-3. PMC 3351028. PMID 22494821.
Zheng, Jie (Nov 2013). “Oncogenic chromosomal translocations and human cancer (Review)”. Oncology Reports 30 (5): 2011–2019. doi:10.3892/or.2013.2677. PMID 23970180.

harvard.edu

ui.adsabs.harvard.edu

Vogelstein B; Papadopoulos N; Velculescu VE; Zhou S; Diaz LA; Kinzler KW (March 2013). “Cancer genome landscapes”. Science 339 (6127): 1546–58. Bibcode: 2013Sci...339.1546V. doi:10.1126/science.1235122. PMC 3749880. PMID 23539594.
Nowak, M. A.; Komarova, N. L.; Sengupta, A.; Jallepalli, P.V.; Shih, I.M.; Vogelstein, B.; Lengauer, C. (2002), “The role of chromosomal instability in tumor initiation”, Proc. Natl. Acad. Sci. USA 99 (25): 16226–31, Bibcode: 2002PNAS...9916226N, doi:10.1073/pnas.202617399, PMC 138593, PMID 12446840
Gottschalk, AJ; Timinszky, G; Kong, SE; Jin, J; Cai, Y; Swanson, SK; Washburn, MP; Florens, L et al. (2009). “Poly(ADP-ribosyl)ation directs recruitment and activation of an ATP-dependent chromatin remodeler”. Proc Natl Acad Sci U S A 106 (33): 13770–4. Bibcode: 2009PNAS..10613770G. doi:10.1073/pnas.0906920106. PMC 2722505. PMID 19666485.
Berger MF; Hodis E; Heffernan TP; Deribe YL; Lawrence MS; Protopopov A; Ivanova E; Watson IR et al. (May 2012). “Melanoma genome sequencing reveals frequent PREX2 mutations”. Nature 485 (7399): 502–6. Bibcode: 2012Natur.485..502B. doi:10.1038/nature11071. PMC 3367798. PMID 22622578.
Narayanan L; Fritzell JA; Baker SM; Liskay RM; Glazer PM (April 1997). “Elevated levels of mutation in multiple tissues of mice deficient in the DNA mismatch repair gene Pms2”. Proc. Natl. Acad. Sci. U.S.A. 94 (7): 3122–7. Bibcode: 1997PNAS...94.3122N. doi:10.1073/pnas.94.7.3122. PMC 20332. PMID 9096356.
Valeri, N; Gasparini, P; Fabbri, M; Braconi, C; Veronese, A; Lovat, F; Adair, B; Vannini, I et al. (2010). “Modulation of mismatch repair and genomic stability by miR-155”. Proc Natl Acad Sci USA 107 (15): 6982–6987. Bibcode: 2010PNAS..107.6982V. doi:10.1073/pnas.1002472107. PMC 2872463. PMID 20351277.

nih.gov

pubmed.ncbi.nlm.nih.gov

Darmon, E; Leach, DRF (2014). “Bacterial Genome Instability”. Microbiol. Mol. Biol. Rev. 78 (1): 1–39. doi:10.1128/MMBR.00035-13. PMC 3957733. PMID 24600039.
Keightley PD (February 2012). “Rates and fitness consequences of new mutations in humans”. Genetics 190 (2): 295–304. doi:10.1534/genetics.111.134668. PMC 3276617. PMID 22345605.
Aguilera, A.; Klein, H. L. (1988-08). “Genetic control of intrachromosomal recombination in Saccharomyces cerevisiae. I. Isolation and genetic characterization of hyper-recombination mutations”. Genetics 119 (4): 779–790. doi:10.1093/genetics/119.4.779. ISSN 0016-6731. PMC 1203464. PMID 3044923.
Cobb, J. A. (Dec 2005). “Replisome instability, fork collapse, and gross chromosomal rearrangements arise synergistically from Mec1 kinase and RecQ helicase mutations”. Genes & Development 19 (24): 3055–3069. doi:10.1101/gad.361805. PMC 1315408. PMID 16357221.
Cortes-Ledesma, Felipe; Aguilera, Andres (Sep 2006). “Double-strand breaks arising from replication through a nick are repaired by cohesin-dependent sister-chromatid exchange”. EMBO Reports 7 (9): 919–926. doi:10.1038/sj.embor.7400774. PMC 1559660. PMID 16888651.
Weinert, T. A.; Hartwell, L. H. (May 1993). “Cell cycle arrest of cdc mutants and specificity of the RAD9 checkpoint”. Genetics 134 (1): 63–80. doi:10.1093/genetics/134.1.63. PMC 1205445. PMID 8514150.
Durkin, Sandra G.; Glover, Thomas W. (Dec 2007). “Chromosome Fragile Sites”. Annual Review of Genetics 41 (1): 169–192. doi:10.1146/annurev.genet.41.042007.165900. PMID 17608616.
Grabczyk, E.; Mancuso, M.; Sammarco, M. C. (Aug 2007). “A persistent RNA-DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro”. Nucleic Acids Research 35 (16): 5351–5359. doi:10.1093/nar/gkm589. PMC 2018641. PMID 17693431.
Trautinger, Brigitte W.; Jaktaji, Razieh P.; Rusakova, Ekaterina; Lloyd, Robert G. (July 2005). “RNA Polymerase Modulators and DNA Repair Activities Resolve Conflicts between DNA Replication and Transcription”. Molecular Cell 19 (2): 247–258. doi:10.1016/j.molcel.2005.06.004. PMID 16039593.
Schrader, Carol E.; Guikema, Jeroen E. J.; Linehan, Erin K.; Selsing, Erik; Stavnezer, Janet (Nov 2007). “Activation-induced cytidine deaminase-dependent DNA breaks in class switch recombination occur during G1 phase of the cell cycle and depend upon mismatch repair”. Journal of Immunology 179 (9): 6064–6071. doi:10.4049/jimmunol.179.9.6064. PMID 17947680.
Subba Rao, K (2007). “Mechanisms of disease: DNA repair defects and neurological disease”. Nat Clin Pract Neurol 3 (3): 162–72. doi:10.1038/ncpneuro0448. PMID 17342192.
Jeppesen, DK; Bohr, VA; Stevnsner, T (2011). “DNA repair deficiency in neurodegeneration”. Prog Neurobiol 94 (2): 166–200. doi:10.1016/j.pneurobio.2011.04.013. PMC 3123739. PMID 21550379.
Corcos, D. (2012), “Unbalanced replication as a major source of genetic instability in cancer cells”, American Journal of Blood Research 2 (3): 160–9, PMC 3484411, PMID 23119227
Storchova, Z.; Pellman, D. (2004), “From polyploidy to aneuploidy, genome instability and cancer”, Nat Rev Mol Cell Biol 5 (1): 45–54, doi:10.1038/nrm1276, PMID 14708009
Vogelstein B; Papadopoulos N; Velculescu VE; Zhou S; Diaz LA; Kinzler KW (March 2013). “Cancer genome landscapes”. Science 339 (6127): 1546–58. Bibcode: 2013Sci...339.1546V. doi:10.1126/science.1235122. PMC 3749880. PMID 23539594.
Nowak, M. A.; Komarova, N. L.; Sengupta, A.; Jallepalli, P.V.; Shih, I.M.; Vogelstein, B.; Lengauer, C. (2002), “The role of chromosomal instability in tumor initiation”, Proc. Natl. Acad. Sci. USA 99 (25): 16226–31, Bibcode: 2002PNAS...9916226N, doi:10.1073/pnas.202617399, PMC 138593, PMID 12446840
Kinzler, K. W.; Vogelstein, B. (April 1997), “Cancer-susceptibility genes. Gatekeepers and caretakers”, Nature 386 (6627): 761–3, doi:10.1038/386761a0, PMID 9126728
Cahill, D. P.; Kinzler, K. W.; Vogelstein, B.; Lengauer, C. (1999), “Genetic instability and darwinian selection in tumours”, Trends Cell Biol. 9 (12): M57–M60, doi:10.1016/S0168-9525(99)01874-0, PMID 10611684
Hui, T.; Zhen, G.; HuiZhong, L.; BaoFu, Z.; Gang, W.; Qing, Z.; DongSheng, P.; JunNian, Z. (2015), “DNA damage response – A double-edged sword in cancer prevention and cancer therapy”, Cancer Letters 358 (1): 8–16, doi:10.1016/j.canlet.2014.12.038, PMID 25528631
Lander, E. S.; Linton, L. M.; Birren, B.; Nusbaum, C.; Zody, M. C.; Baldwin, J.; Devon, K.; Dewar, K. et al. (2001-02-15). “Initial sequencing and analysis of the human genome”. Nature 409 (6822): 860–921. doi:10.1038/35057062. ISSN 0028-0836. PMID 11237011.
Roach, Jared C.; Glusman, Gustavo; Smit, Arian F. A.; Huff, Chad D.; Hubley, Robert; Shannon, Paul T.; Rowen, Lee; Pant, Krishna P. et al. (2010-04-30). “Analysis of genetic inheritance in a family quartet by whole-genome sequencing”. Science (New York, N.Y.) 328 (5978): 636–639. doi:10.1126/science.1186802. ISSN 1095-9203. PMC 3037280. PMID 20220176.
Campbell, Catarina D.; Chong, Jessica X.; Malig, Maika; Ko, Arthur; Dumont, Beth L.; Han, Lide; Vives, Laura; O'Roak, Brian J. et al. (2012-11). “Estimating the human mutation rate using autozygosity in a founder population”. Nature Genetics 44 (11): 1277–1281. doi:10.1038/ng.2418. ISSN 1546-1718. PMC 3483378. PMID 23001126.
Cunningham, FH; Fiebelkorn, S; Johnson, M; Meredith, C (2011). “A novel application of the Margin of Exposure approach: segregation of tobacco smoke toxicants”. Food Chem Toxicol 49 (11): 2921–2933. doi:10.1016/j.fct.2011.07.019. PMID 21802474.
Cuozzo, C; Porcellini, A; Angrisano, T; Morano, A; Lee, B; Di Pardo, A; Messina, S; Iuliano, R et al. (2007). “DNA damage, homology-directed repair, and DNA methylation”. PLOS Genet 3 (7): e110. doi:10.1371/journal.pgen.0030110. PMC 1913100. PMID 17616978.
O'Hagan, HM; Mohammad, HP; Baylin, SB (2008). “Double strand breaks can initiate gene silencing and SIRT1-dependent onset of DNA methylation in an exogenous promoter CpG island”. PLOS Genet 4 (8): e1000155. doi:10.1371/journal.pgen.1000155. PMC 2491723. PMID 18704159.
Gottschalk, AJ; Timinszky, G; Kong, SE; Jin, J; Cai, Y; Swanson, SK; Washburn, MP; Florens, L et al. (2009). “Poly(ADP-ribosyl)ation directs recruitment and activation of an ATP-dependent chromatin remodeler”. Proc Natl Acad Sci U S A 106 (33): 13770–4. Bibcode: 2009PNAS..10613770G. doi:10.1073/pnas.0906920106. PMC 2722505. PMID 19666485.
Yost SE; Smith EN; Schwab RB; Bao L; Jung H; Wang X; Voest E; Pierce JP et al. (August 2012). “Identification of high-confidence somatic mutations in whole genome sequence of formalin-fixed breast cancer specimens”. Nucleic Acids Res. 40 (14): e107. doi:10.1093/nar/gks299. PMC 3413110. PMID 22492626.
Berger MF; Hodis E; Heffernan TP; Deribe YL; Lawrence MS; Protopopov A; Ivanova E; Watson IR et al. (May 2012). “Melanoma genome sequencing reveals frequent PREX2 mutations”. Nature 485 (7399): 502–6. Bibcode: 2012Natur.485..502B. doi:10.1038/nature11071. PMC 3367798. PMID 22622578.
Narayanan L; Fritzell JA; Baker SM; Liskay RM; Glazer PM (April 1997). “Elevated levels of mutation in multiple tissues of mice deficient in the DNA mismatch repair gene Pms2”. Proc. Natl. Acad. Sci. U.S.A. 94 (7): 3122–7. Bibcode: 1997PNAS...94.3122N. doi:10.1073/pnas.94.7.3122. PMC 20332. PMID 9096356.
Hegan DC; Narayanan L; Jirik FR; Edelmann W; Liskay RM; Glazer PM (December 2006). “Differing patterns of genetic instability in mice deficient in the mismatch repair genes Pms2, Mlh1, Msh2, Msh3 and Msh6”. Carcinogenesis 27 (12): 2402–8. doi:10.1093/carcin/bgl079. PMC 2612936. PMID 16728433.
Tutt AN; van Oostrom CT; Ross GM; van Steeg H; Ashworth A (March 2002). “Disruption of Brca2 increases the spontaneous mutation rate in vivo: synergism with ionizing radiation”. EMBO Rep. 3 (3): 255–60. doi:10.1093/embo-reports/kvf037. PMC 1084010. PMID 11850397.
German, J (Mar 1969). “Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients”. Am J Hum Genet 21 (2): 196–227. PMC 1706430. PMID 5770175.
Halford S; Rowan A; Sawyer E; Talbot I; Tomlinson I (June 2005). “O(6)-methylguanine methyltransferase in colorectal cancers: detection of mutations, loss of expression, and weak association with G:C>A:T transitions”. Gut 54 (6): 797–802. doi:10.1136/gut.2004.059535. PMC 1774551. PMID 15888787.
Truninger, K; Menigatti, M; Luz, J; Russell, A; Haider, R; Gebbers, JO; Bannwart, F; Yurtsever, H et al. (2005). “Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer”. Gastroenterology 128 (5): 1160–1171. doi:10.1053/j.gastro.2005.01.056. PMID 15887099.
Valeri, N; Gasparini, P; Fabbri, M; Braconi, C; Veronese, A; Lovat, F; Adair, B; Vannini, I et al. (2010). “Modulation of mismatch repair and genomic stability by miR-155”. Proc Natl Acad Sci USA 107 (15): 6982–6987. Bibcode: 2010PNAS..107.6982V. doi:10.1073/pnas.1002472107. PMC 2872463. PMID 20351277.
Facista, A; Nguyen, H; Lewis, C; Prasad, AR; Ramsey, L; Zaitlin, B; Nfonsam, V; Krouse, RS et al. (2012). “Deficient expression of DNA repair enzymes in early progression to sporadic colon cancer”. Genome Integr 3 (1): 3. doi:10.1186/2041-9414-3-3. PMC 3351028. PMID 22494821.
Zheng, Jie (Nov 2013). “Oncogenic chromosomal translocations and human cancer (Review)”. Oncology Reports 30 (5): 2011–2019. doi:10.3892/or.2013.2677. PMID 23970180.

pmc.ncbi.nlm.nih.gov

Darmon, E; Leach, DRF (2014). “Bacterial Genome Instability”. Microbiol. Mol. Biol. Rev. 78 (1): 1–39. doi:10.1128/MMBR.00035-13. PMC 3957733. PMID 24600039.
Keightley PD (February 2012). “Rates and fitness consequences of new mutations in humans”. Genetics 190 (2): 295–304. doi:10.1534/genetics.111.134668. PMC 3276617. PMID 22345605.
Aguilera, A.; Klein, H. L. (1988-08). “Genetic control of intrachromosomal recombination in Saccharomyces cerevisiae. I. Isolation and genetic characterization of hyper-recombination mutations”. Genetics 119 (4): 779–790. doi:10.1093/genetics/119.4.779. ISSN 0016-6731. PMC 1203464. PMID 3044923.
Cobb, J. A. (Dec 2005). “Replisome instability, fork collapse, and gross chromosomal rearrangements arise synergistically from Mec1 kinase and RecQ helicase mutations”. Genes & Development 19 (24): 3055–3069. doi:10.1101/gad.361805. PMC 1315408. PMID 16357221.
Cortes-Ledesma, Felipe; Aguilera, Andres (Sep 2006). “Double-strand breaks arising from replication through a nick are repaired by cohesin-dependent sister-chromatid exchange”. EMBO Reports 7 (9): 919–926. doi:10.1038/sj.embor.7400774. PMC 1559660. PMID 16888651.
Weinert, T. A.; Hartwell, L. H. (May 1993). “Cell cycle arrest of cdc mutants and specificity of the RAD9 checkpoint”. Genetics 134 (1): 63–80. doi:10.1093/genetics/134.1.63. PMC 1205445. PMID 8514150.
Grabczyk, E.; Mancuso, M.; Sammarco, M. C. (Aug 2007). “A persistent RNA-DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro”. Nucleic Acids Research 35 (16): 5351–5359. doi:10.1093/nar/gkm589. PMC 2018641. PMID 17693431.
Jeppesen, DK; Bohr, VA; Stevnsner, T (2011). “DNA repair deficiency in neurodegeneration”. Prog Neurobiol 94 (2): 166–200. doi:10.1016/j.pneurobio.2011.04.013. PMC 3123739. PMID 21550379.
Corcos, D. (2012), “Unbalanced replication as a major source of genetic instability in cancer cells”, American Journal of Blood Research 2 (3): 160–9, PMC 3484411, PMID 23119227
Vogelstein B; Papadopoulos N; Velculescu VE; Zhou S; Diaz LA; Kinzler KW (March 2013). “Cancer genome landscapes”. Science 339 (6127): 1546–58. Bibcode: 2013Sci...339.1546V. doi:10.1126/science.1235122. PMC 3749880. PMID 23539594.
Nowak, M. A.; Komarova, N. L.; Sengupta, A.; Jallepalli, P.V.; Shih, I.M.; Vogelstein, B.; Lengauer, C. (2002), “The role of chromosomal instability in tumor initiation”, Proc. Natl. Acad. Sci. USA 99 (25): 16226–31, Bibcode: 2002PNAS...9916226N, doi:10.1073/pnas.202617399, PMC 138593, PMID 12446840
Roach, Jared C.; Glusman, Gustavo; Smit, Arian F. A.; Huff, Chad D.; Hubley, Robert; Shannon, Paul T.; Rowen, Lee; Pant, Krishna P. et al. (2010-04-30). “Analysis of genetic inheritance in a family quartet by whole-genome sequencing”. Science (New York, N.Y.) 328 (5978): 636–639. doi:10.1126/science.1186802. ISSN 1095-9203. PMC 3037280. PMID 20220176.
Campbell, Catarina D.; Chong, Jessica X.; Malig, Maika; Ko, Arthur; Dumont, Beth L.; Han, Lide; Vives, Laura; O'Roak, Brian J. et al. (2012-11). “Estimating the human mutation rate using autozygosity in a founder population”. Nature Genetics 44 (11): 1277–1281. doi:10.1038/ng.2418. ISSN 1546-1718. PMC 3483378. PMID 23001126.
Cuozzo, C; Porcellini, A; Angrisano, T; Morano, A; Lee, B; Di Pardo, A; Messina, S; Iuliano, R et al. (2007). “DNA damage, homology-directed repair, and DNA methylation”. PLOS Genet 3 (7): e110. doi:10.1371/journal.pgen.0030110. PMC 1913100. PMID 17616978.
O'Hagan, HM; Mohammad, HP; Baylin, SB (2008). “Double strand breaks can initiate gene silencing and SIRT1-dependent onset of DNA methylation in an exogenous promoter CpG island”. PLOS Genet 4 (8): e1000155. doi:10.1371/journal.pgen.1000155. PMC 2491723. PMID 18704159.
Gottschalk, AJ; Timinszky, G; Kong, SE; Jin, J; Cai, Y; Swanson, SK; Washburn, MP; Florens, L et al. (2009). “Poly(ADP-ribosyl)ation directs recruitment and activation of an ATP-dependent chromatin remodeler”. Proc Natl Acad Sci U S A 106 (33): 13770–4. Bibcode: 2009PNAS..10613770G. doi:10.1073/pnas.0906920106. PMC 2722505. PMID 19666485.
Yost SE; Smith EN; Schwab RB; Bao L; Jung H; Wang X; Voest E; Pierce JP et al. (August 2012). “Identification of high-confidence somatic mutations in whole genome sequence of formalin-fixed breast cancer specimens”. Nucleic Acids Res. 40 (14): e107. doi:10.1093/nar/gks299. PMC 3413110. PMID 22492626.
Berger MF; Hodis E; Heffernan TP; Deribe YL; Lawrence MS; Protopopov A; Ivanova E; Watson IR et al. (May 2012). “Melanoma genome sequencing reveals frequent PREX2 mutations”. Nature 485 (7399): 502–6. Bibcode: 2012Natur.485..502B. doi:10.1038/nature11071. PMC 3367798. PMID 22622578.
Narayanan L; Fritzell JA; Baker SM; Liskay RM; Glazer PM (April 1997). “Elevated levels of mutation in multiple tissues of mice deficient in the DNA mismatch repair gene Pms2”. Proc. Natl. Acad. Sci. U.S.A. 94 (7): 3122–7. Bibcode: 1997PNAS...94.3122N. doi:10.1073/pnas.94.7.3122. PMC 20332. PMID 9096356.
Hegan DC; Narayanan L; Jirik FR; Edelmann W; Liskay RM; Glazer PM (December 2006). “Differing patterns of genetic instability in mice deficient in the mismatch repair genes Pms2, Mlh1, Msh2, Msh3 and Msh6”. Carcinogenesis 27 (12): 2402–8. doi:10.1093/carcin/bgl079. PMC 2612936. PMID 16728433.
Tutt AN; van Oostrom CT; Ross GM; van Steeg H; Ashworth A (March 2002). “Disruption of Brca2 increases the spontaneous mutation rate in vivo: synergism with ionizing radiation”. EMBO Rep. 3 (3): 255–60. doi:10.1093/embo-reports/kvf037. PMC 1084010. PMID 11850397.
German, J (Mar 1969). “Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients”. Am J Hum Genet 21 (2): 196–227. PMC 1706430. PMID 5770175.
Halford S; Rowan A; Sawyer E; Talbot I; Tomlinson I (June 2005). “O(6)-methylguanine methyltransferase in colorectal cancers: detection of mutations, loss of expression, and weak association with G:C>A:T transitions”. Gut 54 (6): 797–802. doi:10.1136/gut.2004.059535. PMC 1774551. PMID 15888787.
Valeri, N; Gasparini, P; Fabbri, M; Braconi, C; Veronese, A; Lovat, F; Adair, B; Vannini, I et al. (2010). “Modulation of mismatch repair and genomic stability by miR-155”. Proc Natl Acad Sci USA 107 (15): 6982–6987. Bibcode: 2010PNAS..107.6982V. doi:10.1073/pnas.1002472107. PMC 2872463. PMID 20351277.
Facista, A; Nguyen, H; Lewis, C; Prasad, AR; Ramsey, L; Zaitlin, B; Nfonsam, V; Krouse, RS et al. (2012). “Deficient expression of DNA repair enzymes in early progression to sporadic colon cancer”. Genome Integr 3 (1): 3. doi:10.1186/2041-9414-3-3. PMC 3351028. PMID 22494821.

ncbi.nlm.nih.gov

Darmon, E; Leach, DRF (2014). “Bacterial Genome Instability”. Microbiol. Mol. Biol. Rev. 78 (1): 1–39. doi:10.1128/MMBR.00035-13. PMC 3957733. PMID 24600039.
Keightley PD (February 2012). “Rates and fitness consequences of new mutations in humans”. Genetics 190 (2): 295–304. doi:10.1534/genetics.111.134668. PMC 3276617. PMID 22345605.
Cobb, J. A. (Dec 2005). “Replisome instability, fork collapse, and gross chromosomal rearrangements arise synergistically from Mec1 kinase and RecQ helicase mutations”. Genes & Development 19 (24): 3055–3069. doi:10.1101/gad.361805. PMC 1315408. PMID 16357221.
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Jeppesen, DK; Bohr, VA; Stevnsner, T (2011). “DNA repair deficiency in neurodegeneration”. Prog Neurobiol 94 (2): 166–200. doi:10.1016/j.pneurobio.2011.04.013. PMC 3123739. PMID 21550379.
Vogelstein B; Papadopoulos N; Velculescu VE; Zhou S; Diaz LA; Kinzler KW (March 2013). “Cancer genome landscapes”. Science 339 (6127): 1546–58. Bibcode: 2013Sci...339.1546V. doi:10.1126/science.1235122. PMC 3749880. PMID 23539594.
Cuozzo, C; Porcellini, A; Angrisano, T; Morano, A; Lee, B; Di Pardo, A; Messina, S; Iuliano, R et al. (2007). “DNA damage, homology-directed repair, and DNA methylation”. PLOS Genet 3 (7): e110. doi:10.1371/journal.pgen.0030110. PMC 1913100. PMID 17616978.
O'Hagan, HM; Mohammad, HP; Baylin, SB (2008). “Double strand breaks can initiate gene silencing and SIRT1-dependent onset of DNA methylation in an exogenous promoter CpG island”. PLOS Genet 4 (8): e1000155. doi:10.1371/journal.pgen.1000155. PMC 2491723. PMID 18704159.
Gottschalk, AJ; Timinszky, G; Kong, SE; Jin, J; Cai, Y; Swanson, SK; Washburn, MP; Florens, L et al. (2009). “Poly(ADP-ribosyl)ation directs recruitment and activation of an ATP-dependent chromatin remodeler”. Proc Natl Acad Sci U S A 106 (33): 13770–4. Bibcode: 2009PNAS..10613770G. doi:10.1073/pnas.0906920106. PMC 2722505. PMID 19666485.
Yost SE; Smith EN; Schwab RB; Bao L; Jung H; Wang X; Voest E; Pierce JP et al. (August 2012). “Identification of high-confidence somatic mutations in whole genome sequence of formalin-fixed breast cancer specimens”. Nucleic Acids Res. 40 (14): e107. doi:10.1093/nar/gks299. PMC 3413110. PMID 22492626.
Berger MF; Hodis E; Heffernan TP; Deribe YL; Lawrence MS; Protopopov A; Ivanova E; Watson IR et al. (May 2012). “Melanoma genome sequencing reveals frequent PREX2 mutations”. Nature 485 (7399): 502–6. Bibcode: 2012Natur.485..502B. doi:10.1038/nature11071. PMC 3367798. PMID 22622578.
Narayanan L; Fritzell JA; Baker SM; Liskay RM; Glazer PM (April 1997). “Elevated levels of mutation in multiple tissues of mice deficient in the DNA mismatch repair gene Pms2”. Proc. Natl. Acad. Sci. U.S.A. 94 (7): 3122–7. Bibcode: 1997PNAS...94.3122N. doi:10.1073/pnas.94.7.3122. PMC 20332. PMID 9096356.
Hegan DC; Narayanan L; Jirik FR; Edelmann W; Liskay RM; Glazer PM (December 2006). “Differing patterns of genetic instability in mice deficient in the mismatch repair genes Pms2, Mlh1, Msh2, Msh3 and Msh6”. Carcinogenesis 27 (12): 2402–8. doi:10.1093/carcin/bgl079. PMC 2612936. PMID 16728433.
Tutt AN; van Oostrom CT; Ross GM; van Steeg H; Ashworth A (March 2002). “Disruption of Brca2 increases the spontaneous mutation rate in vivo: synergism with ionizing radiation”. EMBO Rep. 3 (3): 255–60. doi:10.1093/embo-reports/kvf037. PMC 1084010. PMID 11850397.
German, J (Mar 1969). “Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients”. Am J Hum Genet 21 (2): 196–227. PMC 1706430. PMID 5770175.
Halford S; Rowan A; Sawyer E; Talbot I; Tomlinson I (June 2005). “O(6)-methylguanine methyltransferase in colorectal cancers: detection of mutations, loss of expression, and weak association with G:C>A:T transitions”. Gut 54 (6): 797–802. doi:10.1136/gut.2004.059535. PMC 1774551. PMID 15888787.
Valeri, N; Gasparini, P; Fabbri, M; Braconi, C; Veronese, A; Lovat, F; Adair, B; Vannini, I et al. (2010). “Modulation of mismatch repair and genomic stability by miR-155”. Proc Natl Acad Sci USA 107 (15): 6982–6987. Bibcode: 2010PNAS..107.6982V. doi:10.1073/pnas.1002472107. PMC 2872463. PMID 20351277.
Facista, A; Nguyen, H; Lewis, C; Prasad, AR; Ramsey, L; Zaitlin, B; Nfonsam, V; Krouse, RS et al. (2012). “Deficient expression of DNA repair enzymes in early progression to sporadic colon cancer”. Genome Integr 3 (1): 3. doi:10.1186/2041-9414-3-3. PMC 3351028. PMID 22494821.

pubmedcentral.nih.gov

Corcos, D. (2012), “Unbalanced replication as a major source of genetic instability in cancer cells”, American Journal of Blood Research 2 (3): 160–9, PMC 3484411, PMID 23119227
Nowak, M. A.; Komarova, N. L.; Sengupta, A.; Jallepalli, P.V.; Shih, I.M.; Vogelstein, B.; Lengauer, C. (2002), “The role of chromosomal instability in tumor initiation”, Proc. Natl. Acad. Sci. USA 99 (25): 16226–31, Bibcode: 2002PNAS...9916226N, doi:10.1073/pnas.202617399, PMC 138593, PMID 12446840

worldcat.org

search.worldcat.org

Aguilera, A.; Klein, H. L. (1988-08). “Genetic control of intrachromosomal recombination in Saccharomyces cerevisiae. I. Isolation and genetic characterization of hyper-recombination mutations”. Genetics 119 (4): 779–790. doi:10.1093/genetics/119.4.779. ISSN 0016-6731. PMC 1203464. PMID 3044923.
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Campbell, Catarina D.; Chong, Jessica X.; Malig, Maika; Ko, Arthur; Dumont, Beth L.; Han, Lide; Vives, Laura; O'Roak, Brian J. et al. (2012-11). “Estimating the human mutation rate using autozygosity in a founder population”. Nature Genetics 44 (11): 1277–1281. doi:10.1038/ng.2418. ISSN 1546-1718. PMC 3483378. PMID 23001126.