Experts and Doctors on dna repair enzymes in United States

Summary

Locale: United States
Topic: dna repair enzymes

Top Publications

  1. Goodenberger M, Thomas B, Riegert Johnson D, Boland C, Plon S, Clendenning M, et al. PMS2 monoallelic mutation carriers: the known unknown. Genet Med. 2016;18:13-9 pubmed publisher
    ..Genet Med 18 1, 13-19. ..
  2. Bhaskara V, Dupré A, Lengsfeld B, Hopkins B, Chan A, Lee J, et al. Rad50 adenylate kinase activity regulates DNA tethering by Mre11/Rad50 complexes. Mol Cell. 2007;25:647-61 pubmed
    ..We propose a model for Rad50 that incorporates both ATPase and adenylate kinase reactions as critical activities that regulate Rad50 functions. ..
  3. Wyatt M, Wilson D. Participation of DNA repair in the response to 5-fluorouracil. Cell Mol Life Sci. 2009;66:788-99 pubmed publisher
    ..Ongoing efforts aim to design approaches and reagents that (i) approximate repair capacity and (ii) mediate strategic regulation of DNA repair in order to improve the efficacy of current anticancer treatments. ..
  4. Jiang Y, Gao X, Zhou G, Patel A, Javer A. Selective recognition of uracil and its derivatives using a DNA repair enzyme structural mimic. J Org Chem. 2010;75:324-33 pubmed publisher
    ..Our study provides some insight into how uracil and its derivatives in DNA are bound by DNA repair enzymes through hydrogen bonding and pi-pi stacking interactions. ..
  5. Lee J, Goodarzi A, Jeggo P, Paull T. 53BP1 promotes ATM activity through direct interactions with the MRN complex. EMBO J. 2010;29:574-85 pubmed publisher
    ..We also find that the BRCT domains of 53BP1 affect the overall structure of 53BP1 multimers and that this structure is important for promoting ATM phosphorylation of substrates as well as for the repair of DNA DSBs in mammalian cells. ..
  6. Chahwan R, Edelmann W, Scharff M, Roa S. Mismatch-mediated error prone repair at the immunoglobulin genes. Biomed Pharmacother. 2011;65:529-36 pubmed publisher
  7. Siker M, Chakravarti A, Mehta M. Should concomitant and adjuvant treatment with temozolomide be used as standard therapy in patients with anaplastic glioma?. Crit Rev Oncol Hematol. 2006;60:99-111 pubmed
    ..Further investigation is needed to better define the role of chemotherapy in patients with anaplastic gliomas. Trials evaluating chemoradiotherapy as well as targeted therapeutic agents are the subject of further research. ..
  8. Shah N, Lin B, Sibenaller Z, Ryken T, Lee H, Yoon J, et al. Comprehensive analysis of MGMT promoter methylation: correlation with MGMT expression and clinical response in GBM. PLoS ONE. 2011;6:e16146 pubmed publisher
    ..Further prospective validation of these two methods in a large independent patient cohort will be needed to confirm the added value of promoter wide analysis of MGMT methylation in the clinical setting. ..
  9. Jiang Y, Wang Y, Wang Y. In vitro replication and repair studies of tandem lesions containing neighboring thymidine glycol and 8-oxo-7,8-dihydro-2'-deoxyguanosine. Chem Res Toxicol. 2009;22:574-83 pubmed publisher
    ..These results supported the notion that the replication and repair of tandem single-nucleobase lesions depend on the types of lesions involved and their spatial arrangement. ..

More Information

Publications122 found, 100 shown here

  1. Backes F, Leon M, Ivanov I, Suarez A, Frankel W, Hampel H, et al. Prospective evaluation of DNA mismatch repair protein expression in primary endometrial cancer. Gynecol Oncol. 2009;114:486-90 pubmed publisher
    ..However, acceptance of genetic consultation and testing is surprisingly low and deserves further investigation. ..
  2. Yang S, Zhou R, Campbell J, Chen J, Ha T, Paull T. The SOSS1 single-stranded DNA binding complex promotes DNA end resection in concert with Exo1. EMBO J. 2013;32:126-39 pubmed publisher
    ..These results may explain why SOSS complexes do not localize with RPA to replication sites in human cells, yet have a strong effect on double-strand break resection and homologous recombination. ..
  3. Pinsonneault R, Vacek P, O Neill J, Finette B. Induction of V(D)J-mediated recombination of an extrachromosomal substrate following exposure to DNA-damaging agents. Environ Mol Mutagen. 2007;48:440-50 pubmed
  4. Sontz P, Mui T, FUSS J, Tainer J, Barton J. DNA charge transport as a first step in coordinating the detection of lesions by repair proteins. Proc Natl Acad Sci U S A. 2012;109:1856-61 pubmed publisher
  5. Trobridge G, Beard B, Wu R, Ironside C, Malik P, Kiem H. Stem cell selection in vivo using foamy vectors cures canine pyruvate kinase deficiency. PLoS ONE. 2012;7:e45173 pubmed publisher
    ..In addition to providing a potential cure for patients with pyruvate kinase deficiency, in vivo selection using foamy vectors with MGMTP140K has broad potential for several hematopoietic diseases including hemoglobinopathies. ..
  6. Kisby G, Fry R, Lasarev M, Bammler T, Beyer R, Churchwell M, et al. The cycad genotoxin MAM modulates brain cellular pathways involved in neurodegenerative disease and cancer in a DNA damage-linked manner. PLoS ONE. 2011;6:e20911 pubmed publisher
    ..Exposure to MAM-related environmental genotoxins may have relevance to the etiology of related tauopathies, notably, Alzheimer's disease...
  7. Karanja K, Cox S, Duxin J, Stewart S, Campbell J. DNA2 and EXO1 in replication-coupled, homology-directed repair and in the interplay between HDR and the FA/BRCA network. Cell Cycle. 2012;11:3983-96 pubmed publisher
    ..This is the first demonstration of the redundancy of human resection nucleases in the HDR step in replication-coupled repair, and suggests that DNA2 may represent a new mediator of the interplay between HDR and the FA/BRCA pathway. ..
  8. Wu X, Wang Z. Relationships between yeast Rad27 and Apn1 in response to apurinic/apyrimidinic (AP) sites in DNA. Nucleic Acids Res. 1999;27:956-62 pubmed
    ..In contrast, nucleotide excision repair and BER of oxidative damage were not affected in rad27 mutant extracts, indicating that Rad27 is specifically required for BER of AP sites in DNA. ..
  9. Vogelbaum M, Berkey B, Peereboom D, MacDonald D, Giannini C, Suh J, et al. Phase II trial of preirradiation and concurrent temozolomide in patients with newly diagnosed anaplastic oligodendrogliomas and mixed anaplastic oligoastrocytomas: RTOG BR0131. Neuro Oncol. 2009;11:167-75 pubmed publisher
    ..Future studies will need to prospectively stratify patients according to the presence of deletions of chromosomes 1p and 19q. ..
  10. Horbinski C, Hamilton R, Lovell C, Burnham J, Pollack I. Impact of morphology, MIB-1, p53 and MGMT on outcome in pilocytic astrocytomas. Brain Pathol. 2010;20:581-8 pubmed publisher
    ..These results suggest that PAs differ fundamentally according to location; therefore, biological behavior may not simply depend on extent of resection. ..
  11. Hassane D, Lee R, Pickett C. Campylobacter jejuni cytolethal distending toxin promotes DNA repair responses in normal human cells. Infect Immun. 2003;71:541-5 pubmed
    ..jejuni CDT. Fibroblasts that were intoxicated and later stimulated to proliferate failed to divide and remained arrested in the G(1) phase of the cell cycle. ..
  12. Marshall C, Pippin J, Krofft R, Shankland S. Puromycin aminonucleoside induces oxidant-dependent DNA damage in podocytes in vitro and in vivo. Kidney Int. 2006;70:1962-73 pubmed
    ..A mechanism underlying the lack of podocyte proliferation following PA-induced injury in vitro and in vivo may be ROS-mediated DNA damage, with upregulation of specific cell cycle checkpoints leading to cell cycle arrest. ..
  13. Gal T, Huang W, Chen C, Hayes R, Schwartz S. DNA repair gene polymorphisms and risk of second primary neoplasms and mortality in oral cancer patients. Laryngoscope. 2005;115:2221-31 pubmed
    ..These findings require confirmation in other populations before the clinical implications can be considered. ..
  14. Chan S, Yu A, McVey M. Dual roles for DNA polymerase theta in alternative end-joining repair of double-strand breaks in Drosophila. PLoS Genet. 2010;6:e1001005 pubmed publisher
    ..Our results establish pol theta as a key protein in alternative end joining in Drosophila and suggest a potential mechanistic link between alternative end joining and interstrand crosslink repair. ..
  15. Paull T. Making the best of the loose ends: Mre11/Rad50 complexes and Sae2 promote DNA double-strand break resection. DNA Repair (Amst). 2010;9:1283-91 pubmed publisher
  16. Shin C, Mellon I, Turker M. Multiple mutations are common at mouse Aprt in genotoxin-exposed mismatch repair deficient cells. Oncogene. 2002;21:1768-76 pubmed
    ..The significance of these results is discussed with regards to the roles for the PMS2 and MLH1 proteins in preventing spontaneous and genotoxin-related mutations. ..
  17. Cherry S, Adelman C, Theunissen J, Hassold T, Hunt P, Petrini J. The Mre11 complex influences DNA repair, synapsis, and crossing over in murine meiosis. Curr Biol. 2007;17:373-8 pubmed
    ..Thus, our findings implicate the Mre11 complex in meiotic DNA repair and synapsis in mammals and indicate that the complex may contribute to the establishment of normal sex-specific differences in meiosis...
  18. Balasubramanian N, Bai P, Buchek G, Korza G, Weller S. Physical interaction between the herpes simplex virus type 1 exonuclease, UL12, and the DNA double-strand break-sensing MRN complex. J Virol. 2010;84:12504-14 pubmed publisher
    ..These observations support the hypothesis that cellular and viral recombination factors work together to promote efficient HSV-1 growth. ..
  19. Nabors L, Mikkelsen T, Hegi M, Ye X, Batchelor T, Lesser G, et al. A safety run-in and randomized phase 2 study of cilengitide combined with chemoradiation for newly diagnosed glioblastoma (NABTT 0306). Cancer. 2012;118:5601-7 pubmed publisher
    ..The authors concluded that, from an efficacy and safety standpoint, future trials of this agent in this population should use the 2000 mg dose. ..
  20. Herzig M, Zavadil J, Street K, Hildreth K, Drinkwater N, Reddick T, et al. DNA Alkylating Agent Protects Against Spontaneous Hepatocellular Carcinoma Regardless of O6-Methylguanine-DNA Methyltransferase Status. Cancer Prev Res (Phila). 2016;9:245-52 pubmed publisher
    ..Together, these results suggest that targeting the repair of cytotoxic lesions may be a good preventative for patients at high risk of developing hepatocellular carcinoma. ..
  21. Bessler J, Zakian V. The amino terminus of the Saccharomyces cerevisiae DNA helicase Rrm3p modulates protein function altering replication and checkpoint activity. Genetics. 2004;168:1205-18 pubmed
    ..These data demonstrate that the amino terminus of Rrm3p is essential for Rrm3p function. However, the helicase domain of Rrm3p also contributes to its functional specificity. ..
  22. Cannon B, Kuhnlein J, Yang S, Cheng A, Schindler D, Stark J, et al. Visualization of local DNA unwinding by Mre11/Rad50/Nbs1 using single-molecule FRET. Proc Natl Acad Sci U S A. 2013;110:18868-73 pubmed publisher
  23. Charbonneau N, Amunugama R, Schmutte C, Yoder K, Fishel R. Evidence that hMLH3 functions primarily in meiosis and in hMSH2-hMSH3 mismatch repair. Cancer Biol Ther. 2009;8:1411-20 pubmed
    ..These data are consistent with yeast studies and suggest a role for hMLH3 in meiosis as well as hMSH2-hMSH3 repair processes and little if any role in Hereditary Non-Polyposis Colorectal Cancer (HNPCC). ..
  24. Lee J, Paull T. Direct activation of the ATM protein kinase by the Mre11/Rad50/Nbs1 complex. Science. 2004;304:93-6 pubmed
    ..Kinase-deficient ATM inhibits wild-type ATM phosphorylation of Chk2, consistent with the dominant-negative effect of kinase-deficient ATM in vivo. ..
  25. Boal A, Yavin E, Barton J. DNA repair glycosylases with a [4Fe-4S] cluster: a redox cofactor for DNA-mediated charge transport?. J Inorg Biochem. 2007;101:1913-21 pubmed
  26. Miller A, Dudley S, Tsao J, Shibata D, Liskay R. Tractable Cre-lox system for stochastic alteration of genes in mice. Nat Methods. 2008;5:227-9 pubmed publisher
    ..This system should be particularly useful for delineating pathways of neoplasia, and determining the developmental and aging consequences of specific gene alterations. ..
  27. Sinicrope F, Okamoto K, Kasi P, Kawakami H. Molecular Biomarkers in the Personalized Treatment of Colorectal Cancer. Clin Gastroenterol Hepatol. 2016;14:651-8 pubmed publisher
    ..Efforts to validate and refine these subtypes to include additional genomic features are ongoing. The focus of this article is to highlight molecular markers that can inform clinical decision-making in patients with CRC. ..
  28. Vallur A, Maizels N. Complementary roles for exonuclease 1 and Flap endonuclease 1 in maintenance of triplet repeats. J Biol Chem. 2010;285:28514-9 pubmed publisher
    ..These results also suggest that unresolved G4 DNA may prevent key steps in normal post-replicative DNA processing. ..
  29. Adeyemi R, Landry S, Davis M, Weitzman M, Pintel D. Parvovirus minute virus of mice induces a DNA damage response that facilitates viral replication. PLoS Pathog. 2010;6:e1001141 pubmed publisher
    ..Thus it appears that MVM exploits the cellular DNA damage response machinery early in infection to enhance its replication in host cells. ..
  30. Tomer G, Buermeyer A, Nguyen M, Liskay R. Contribution of human mlh1 and pms2 ATPase activities to DNA mismatch repair. J Biol Chem. 2002;277:21801-9 pubmed
    ..These findings imply that ATP hydrolysis is required for MutLalpha activity in mismatch repair and that this activity is associated with differential conformational changes in Mlh1 and Pms2. ..
  31. Wu X, Platt J, Cascalho M. Dimerization of MLH1 and PMS2 limits nuclear localization of MutLalpha. Mol Cell Biol. 2003;23:3320-8 pubmed
    ..Limited nuclear localization of MutLalpha may thus represent a novel mechanism by which cells fine-tune mismatch repair functions. This mechanism may have implications in the pathogenesis of hereditary non-polyposis colon cancer. ..
  32. Nemec A, Wallace S, Sweasy J. Variant base excision repair proteins: contributors to genomic instability. Semin Cancer Biol. 2010;20:320-8 pubmed publisher
    ..Mutations that arise in key growth control genes, imbalances in chromosome number, chromosomal translocations, and loss of heterozygosity can result in the initiation of human cancer or its progression. ..
  33. Ponnala S, Veeravalli K, Chetty C, Dinh D, Rao J. Regulation of DNA repair mechanism in human glioma xenograft cells both in vitro and in vivo in nude mice. PLoS ONE. 2011;6:e26191 pubmed publisher
    ..Considering the radio- and chemo-resistant cancers favored by hypoxia, our study provides important therapeutic potential of MMP9, uPAR and cathepsin B shRNA in the treatment of glioma from clinical stand point. ..
  34. Lee J, Mand M, Deshpande R, Kinoshita E, Yang S, Wyman C, et al. Ataxia telangiectasia-mutated (ATM) kinase activity is regulated by ATP-driven conformational changes in the Mre11/Rad50/Nbs1 (MRN) complex. J Biol Chem. 2013;288:12840-51 pubmed publisher
    ..Collectively, these results show that the ATP-bound form of MRN is the critical conformation for ATM activation. ..
  35. Sears C, Cooney S, Chin Sinex H, Mendonca M, Turchi J. DNA damage response (DDR) pathway engagement in cisplatin radiosensitization of non-small cell lung cancer. DNA Repair (Amst). 2016;40:35-46 pubmed publisher
  36. Zhang Y, Yuan F, Presnell S, Tian K, Gao Y, Tomkinson A, et al. Reconstitution of 5'-directed human mismatch repair in a purified system. Cell. 2005;122:693-705 pubmed
    ..These data suggest a model for human mismatch repair involving coordinated initiation and termination of mismatch-provoked excision. ..
  37. Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D, et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 2006;66:7810-7 pubmed
    ..Studying all endometrial cancer patients for Lynch syndrome using a combination of MSI and immunohistochemistry for molecular prescreening followed by gene sequencing and deletion analysis is feasible and may be desirable. ..
  38. Hemphill A, Bruun D, Thrun L, Akkari Y, Torimaru Y, Hejna K, et al. Mammalian SNM1 is required for genome stability. Mol Genet Metab. 2008;94:38-45 pubmed publisher
    ..Further, mono-ubiquitination of FANCD2, an endpoint of the FA pathway, is not disturbed by depletion of hSNM1 in normal cells. Thus, hSNM1 appears to represent a second pathway for genome stability, distinct from the FA pathway. ..
  39. Lee M, Bachant J. SUMO modification of DNA topoisomerase II: trying to get a CENse of it all. DNA Repair (Amst). 2009;8:557-68 pubmed publisher
    ..In closing, however, we will evaluate two possible interpretations: one in which SUMO promotes enzyme turnover, and a second in which SUMO acts as a localization tag for topo II chromosome trafficking. ..
  40. Peereboom D, Shepard D, Ahluwalia M, Brewer C, Agarwal N, Stevens G, et al. Phase II trial of erlotinib with temozolomide and radiation in patients with newly diagnosed glioblastoma multiforme. J Neurooncol. 2010;98:93-9 pubmed publisher
    ..Erlotinib co administered with RT and temozolomide was not efficacious and had an unacceptable toxicity. ..
  41. Myler L, Gallardo I, Soniat M, Deshpande R, Gonzalez X, Kim Y, et al. Single-Molecule Imaging Reveals How Mre11-Rad50-Nbs1 Initiates DNA Break Repair. Mol Cell. 2017;67:891-898.e4 pubmed publisher
    ..Our results provide a mechanism for how MRN promotes homologous recombination on nucleosome-coated DNA. ..
  42. Matthews K, Estes J, Conner M, Manne U, Whitworth J, Huh W, et al. Lynch syndrome in women less than 50 years of age with endometrial cancer. Obstet Gynecol. 2008;111:1161-6 pubmed publisher
    ..A number of young women diagnosed with endometrial cancer will require further genetic testing for mismatch repair mutations. III. ..
  43. Mao G, Lee S, Ortega J, Gu L, Li G. Modulation of microRNA processing by mismatch repair protein MutL?. Cell Res. 2012;22:973-85 pubmed publisher
    ..In contrast, miR-422a downregulates MutL? levels by suppressing MLH1 expression through base pairing with the MLH1 3'-untranslated region. A model depicting this feedback mechanism is discussed. ..
  44. Mathur P, Kaga S, Zhan L, Das D, Maulik N. Antibody-array technique reveals overexpression of important DNA-repair proteins during cardiac ischemic preconditioning. J Mol Cell Cardiol. 2005;38:99-102 pubmed
    ..Therefore, this report focuses on the overexpression of Rad50 and DNA topoisomerase and proposes that the DNA-repair mechanism in the permanent left anterior descending coronary artery (LAD) occlusion model involves these two proteins. ..
  45. Gomez Gutierrez J, Nitz J, Sharma R, Wechman S, Riedinger E, Martinez Jaramillo E, et al. Combined therapy of oncolytic adenovirus and temozolomide enhances lung cancer virotherapy in vitro and in vivo. Virology. 2016;487:249-59 pubmed publisher
    ..In this study, we have provided an experimental rationale to test OAds in combination with TMZ in a lung cancer clinical trial. ..
  46. Baker S, Bronner C, Zhang L, Plug A, Robatzek M, Warren G, et al. Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. Cell. 1995;82:309-19 pubmed
    ..These observations suggest links among mismatch repair, genetic recombination, and chromosome synapsis in meiosis. ..
  47. Williams B, Mirzoeva O, Morgan W, Lin J, Dunnick W, Petrini J. A murine model of Nijmegen breakage syndrome. Curr Biol. 2002;12:648-53 pubmed
    ..We propose that the ATM-Mre11 complex DNA damage response pathway is essential and that ATM or the Mre11 complex serves as a nexus to additional components of the pathway. ..
  48. Moline J, Mahdi H, Yang B, Biscotti C, Roma A, Heald B, et al. Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center. Gynecol Oncol. 2013;130:121-6 pubmed publisher
    ..Universal screening of endometrial cancers for LS is practical and successfully implemented with collaboration among genetic counselors, gynecologic oncologists, and pathologists. ..
  49. Maiuri A, Peng M, Podicheti R, Sriramkumar S, Kamplain C, Rusch D, et al. Mismatch Repair Proteins Initiate Epigenetic Alterations during Inflammation-Driven Tumorigenesis. Cancer Res. 2017;77:3467-3478 pubmed publisher
    ..Understanding such mechanisms will inform development of pharmacotherapies to reduce carcinogenesis. Cancer Res; 77(13); 3467-78. ©2017 AACR. ..
  50. Bender C, Sikes M, Sullivan R, Huye L, Le Beau M, Roth D, et al. Cancer predisposition and hematopoietic failure in Rad50(S/S) mice. Genes Dev. 2002;16:2237-51 pubmed
    ..The data indicate that even subtle perturbation of Mre11 complex functions results in severe genotoxic stress, and that the complex is critically important for homeostasis of proliferative tissues. ..
  51. Jeon Y, Kim D, Martín López J, Lee R, Oh J, Hanne J, et al. Dynamic control of strand excision during human DNA mismatch repair. Proc Natl Acad Sci U S A. 2016;113:3281-6 pubmed publisher
    ..Conversely, HsMLH1-HsPMS2 regulates tract length by controlling the number of excision complexes, providing a link to 5' MMR. ..
  52. Qin X, Shibata D, Gerson S. Heterozygous DNA mismatch repair gene PMS2-knockout mice are susceptible to intestinal tumor induction with N-methyl-N-nitrosourea. Carcinogenesis. 2000;21:833-8 pubmed
    ..Organ-specific factors might influence MMR- mediated resistance to methylating agents. Heterozygous PMS2 knockout mice may be used as a promising animal model for intestinal tumorigenesis studies involving environmental carcinogens. ..
  53. Marchetti M, Kumar S, Hartsuiker E, Maftahi M, Carr A, Freyer G, et al. A single unbranched S-phase DNA damage and replication fork blockage checkpoint pathway. Proc Natl Acad Sci U S A. 2002;99:7472-7 pubmed
    ..These results suggest that, in fission yeast, the signal activating the intra-S-phase checkpoint is generated only when replication forks encounter DNA damage. ..
  54. Chen Y, Wang J, Fraig M, Henderson K, Bissada N, Watson D, et al. Alterations in PMS2, MSH2 and MLH1 expression in human prostate cancer. Int J Oncol. 2003;22:1033-43 pubmed
    ..These series of events may play important roles in the development of human prostate cancer. ..
  55. Nakagawa H, Lockman J, Frankel W, Hampel H, Steenblock K, Burgart L, et al. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Cancer Res. 2004;64:4721-7 pubmed
    ..Paralogous genes interfere with mutation detection, resulting in underdiagnosis of PMS2 mutations. Mutation detection in PMS2 requires haploid DNA. ..
  56. Lee J, Paull T. ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex. Science. 2005;308:551-4 pubmed
    ..The unwinding of DNA ends by MRN was essential for ATM stimulation, which is consistent with the central role of single-stranded DNA as an evolutionarily conserved signal for DNA damage. ..
  57. Yabuki M, Fujii M, Maizels N. The MRE11-RAD50-NBS1 complex accelerates somatic hypermutation and gene conversion of immunoglobulin variable regions. Nat Immunol. 2005;6:730-6 pubmed
    ..These data suggest that MRN promotes DNA cleavage and/or mutagenic repair of lesions initiated by activation-induced deaminase, acting in the shared pathway of immunoglobulin gene diversification. ..
  58. Clendenning M, Senter L, Hampel H, Robinson K, Sun S, Buchanan D, et al. A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. J Med Genet. 2008;45:340-5 pubmed publisher
    ..This disparity is primarily due to complications in the study of this gene caused by interference from pseudogene sequences...
  59. Newman J, Bailey A, Fan H, Pavelitz T, Weiner A. An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome. PLoS Genet. 2008;4:e1000031 pubmed publisher
    ..We speculate that the CSB-transposase fusion protein has been conserved for host antitransposon defense, or to modulate gene regulation by MER85 elements, but may cause CS in the absence of functional CSB protein...
  60. Kisby G, Olivas A, Park T, Churchwell M, Doerge D, Samson L, et al. DNA repair modulates the vulnerability of the developing brain to alkylating agents. DNA Repair (Amst). 2009;8:400-12 pubmed publisher
  61. Guo Z, Kozlov S, Lavin M, Person M, Paull T. ATM activation by oxidative stress. Science. 2010;330:517-21 pubmed publisher
    ..Identification of this pathway explains observations of ATM activation under conditions of oxidative stress and shows that ATM is an important sensor of reactive oxygen species in human cells...
  62. Kitange G, Mladek A, Carlson B, Schroeder M, Pokorny J, Cen L, et al. Inhibition of histone deacetylation potentiates the evolution of acquired temozolomide resistance linked to MGMT upregulation in glioblastoma xenografts. Clin Cancer Res. 2012;18:4070-9 pubmed publisher
  63. Shon W, Wolz M, Newman C, Bridges A. Reticulated acanthoma with sebaceous differentiation: another sebaceous neoplasm associated with Muir-Torre syndrome?. Australas J Dermatol. 2014;55:e71-3 pubmed publisher
    ..This benign neoplasm, which can be mistaken for various other cutaneous lesions with sebaceous differentiation, deserves wider recognition for its possible association with MTS. ..
  64. Couch F, Shimelis H, Hu C, Hart S, Polley E, Na J, et al. Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA Oncol. 2017;3:1190-1196 pubmed publisher
  65. Mansky L, Preveral S, Le Rouzic E, Bernard L, Selig L, Depienne C, et al. Interaction of human immunodeficiency virus type 1 Vpr with the HHR23A DNA repair protein does not correlate with multiple biological functions of Vpr. Virology. 2001;282:176-85 pubmed
    ..Further analysis is needed to determine the functional role(s) of the Vpr-HHR23A association during the HIV-1 life cycle. ..
  66. Tassotto M, Mathews C. Assessing the metabolic function of the MutT 8-oxodeoxyguanosine triphosphatase in Escherichia coli by nucleotide pool analysis. J Biol Chem. 2002;277:15807-12 pubmed
    ..These findings lead us to question the conclusion that 8-oxo-dGTP is the most significant physiological substrate for the MutT protein. ..
  67. Shin C, Turker M. A:T --> G:C base pair substitutions occur at a higher rate than other substitution events in Pms2 deficient mouse cells. DNA Repair (Amst). 2002;1:995-1001 pubmed
    ..The results are discussed with regards to the role of mismatch repair proteins in preventing base-pair substitutions, including those induced by oxidative stress. ..
  68. Patel S, Venkatesh K, Edwards J. An integrated mechanistic model for transcription-coupled nucleotide excision repair. DNA Repair (Amst). 2004;3:343-8 pubmed
    ..The implications of the model on the mechanism for transcription-coupled repair in higher organisms are briefly discussed. ..
  69. Denver D, Feinberg S, Steding C, Durbin M, Lynch M. The relative roles of three DNA repair pathways in preventing Caenorhabditis elegans mutation accumulation. Genetics. 2006;174:57-65 pubmed
    ..elegans mutation accumulation and provides evidence for the presence of pathway-specific DNA repair territories in the C. elegans genome. ..
  70. Lee Y, McKinnon P. Responding to DNA double strand breaks in the nervous system. Neuroscience. 2007;145:1365-74 pubmed
    ..Thus, there are distinct requirements for each DNA DSB repair pathway during neural development, which have important implications for understanding diseases of the nervous system...
  71. DESCHENES S, Tomer G, Nguyen M, Erdeniz N, Juba N, Sepúlveda N, et al. The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair. Cancer Lett. 2007;249:148-56 pubmed
    ..Our results strongly suggest that hPMS2-E705K is a recessive loss-of-function allele. ..
  72. Giri N, Sun H, Chen H, Costa M, Maroney M. X-ray absorption spectroscopy structural investigation of early intermediates in the mechanism of DNA repair by human ABH2. Biochemistry. 2011;50:5067-76 pubmed publisher
    ..However, in the case of the Ni(II)-substituted enzyme, the complex that forms in the presence of the cofactor and substrate is six-coordinate and, therefore, features no open coordination site for oxygen activation at the metal. ..
  73. Liu S, Yan S, Lee Y, Liu N, Ting H, Li G, et al. Testicular nuclear receptor 4 (TR4) regulates UV light-induced responses via Cockayne syndrome B protein-mediated transcription-coupled DNA repair. J Biol Chem. 2011;286:38103-8 pubmed publisher
    ..These results may lead to the development of new treatments for UV light-sensitive syndromes, skin cancer, and aging. ..
  74. Wysham W, Mhawech Fauceglia P, Li H, Hays L, Syriac S, Skrepnik T, et al. BRCAness profile of sporadic ovarian cancer predicts disease recurrence. PLoS ONE. 2012;7:e30042 pubmed publisher
    ..03). Patients with concomitantly high levels of PARP, FANCD2 and P53 protein expression are at increased risk of early ovarian cancer recurrence and platinum resistance. ..
  75. Izumchenko E, Saydi J, Brown K. Exonuclease 1 (Exo1) is required for activating response to S(N)1 DNA methylating agents. DNA Repair (Amst). 2012;11:951-64 pubmed publisher
    ..This study indicates that EXO1 is required to activate MMR-dependent DDR in response to S(N)1 methylating agents; however, this function of EXO1 is independent of its nucleolytic activity. ..
  76. Roth S, Rottach A, Lotz Havla A, Laux V, Muschaweckh A, Gersting S, et al. Rad50-CARD9 interactions link cytosolic DNA sensing to IL-1? production. Nat Immunol. 2014;15:538-45 pubmed publisher
    ..Our results define a cytosolic DNA-recognition pathway for inflammation and a physical and functional connection between a conserved DNA-damage sensor and the innate immune response to pathogens. ..
  77. Wang Z, Wu X, Friedberg E. Molecular mechanism of base excision repair of uracil-containing DNA in yeast cell-free extracts. J Biol Chem. 1997;272:24064-71 pubmed
    ..The processing of the 5'-deoxyribose phosphate moieties was found to be a rate-limiting step. During BER of uracil-containing DNA, repair patch sizes of 1-5 nucleotides were detected, with single nucleotide repair patches predominant. ..
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