1. |
DNA repair polymorphisms in B-cell chronic lymphocytic leukemia in sufferers of Chernobyl Nuclear Power Plant accident. |
Abramenko I, etal., J Radiat Res. 2012;53(3):497-503.
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2. |
Investigation of DNA repair gene variants on myelodysplastic syndromes in a Turkish population. |
Aktuglu MB, etal., Med Oncol. 2014 Oct;31(10):174. doi: 10.1007/s12032-014-0174-6. Epub 2014 Aug 26.
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3. |
Genetic variation in XPD predicts treatment outcome and risk of acute myeloid leukemia following chemotherapy. |
Allan JM, etal., Blood. 2004 Dec 15;104(13):3872-7. Epub 2004 Aug 31.
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4. |
RRM1, RRM2 and ERCC2 Gene Polymorphisms in Coronary Artery Disease. |
Altinkilic EM, etal., In Vivo. 2016 09-10;30(5):611-5.
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5. |
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria. |
Andressoo JO, etal., Cancer Cell. 2006 Aug;10(2):121-32.
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6. |
Polymorphism in the ERCC2 codon 751 is associated with arsenic-induced premalignant hyperkeratosis and significant chromosome aberrations. |
Banerjee M, etal., Carcinogenesis. 2007 Mar;28(3):672-6. Epub 2006 Oct 17.
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7. |
Polymorphism of XRCC1, XRCC3, and XPD genes and risk of chronic myeloid leukemia. |
Banescu C, etal., Biomed Res Int. 2014;2014:213790. doi: 10.1155/2014/213790. Epub 2014 May 15.
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8. |
DNA repair gene XPD and XRCC1 polymorphisms and the risk of childhood acute lymphoblastic leukemia. |
Batar B, etal., Leuk Res. 2009 Jun;33(6):759-63. doi: 10.1016/j.leukres.2008.11.005. Epub 2008 Dec 19.
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9. |
Association of XPD polymorphisms with prostate cancer in Taiwanese patients. |
Bau DT, etal., Anticancer Res. 2007 Jul-Aug;27(4C):2893-6.
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10. |
The genetic association database. |
Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
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11. |
Associations between ERCC2 polymorphisms and gliomas. |
Caggana M, etal., Cancer Epidemiol Biomarkers Prev. 2001 Apr;10(4):355-60.
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12. |
Phase II studies of gemcitabine and cisplatin in heavily and minimally pretreated metastatic breast cancer. |
Chew HK, etal., J Clin Oncol. 2009 May 1;27(13):2163-9. doi: 10.1200/JCO.2008.17.4839. Epub 2009 Mar 23.
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13. |
mRNA levels of the hypoxia inducible factor (HIF-1) and DNA repair genes in perinatal asphyxia of the rat. |
Chiappe-Gutierrez M, etal., Life Sci. 1998;63(13):1157-67.
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14. |
Haplotypes of DNA repair and cell cycle control genes, X-ray exposure, and risk of childhood acute lymphoblastic leukemia. |
Chokkalingam AP, etal., Cancer Causes Control. 2011 Dec;22(12):1721-30. doi: 10.1007/s10552-011-9848-y. Epub 2011 Oct 11.
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15. |
DNA repair genes polymorphisms in multiple myeloma: no association with XRCC1 (Arg399Gln) polymorphism, but the XRCC4 (VNTR in intron 3 and G-1394T) and XPD (Lys751Gln) polymorphisms is associated with the disease in Turkish patients. |
Cifci S, etal., Hematology. 2011 Nov;16(6):361-7. doi: 10.1179/102453311X13127324303399.
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16. |
TFIIH: when transcription met DNA repair. |
Compe E and Egly JM, Nat Rev Mol Cell Biol. 2012 May 10;13(6):343-54. doi: 10.1038/nrm3350.
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17. |
Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition. |
de Boer J, etal., Cancer Res. 1999 Jul 15;59(14):3489-94.
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18. |
Phase 1a/1b and pharmacogenetic study of docetaxel, oxaliplatin and capecitabine in patients with advanced cancer of the stomach or the gastroesophageal junction. |
Deenen MJ, etal., Cancer Chemother Pharmacol. 2015 Dec;76(6):1285-95. doi: 10.1007/s00280-015-2872-y. Epub 2015 Oct 23.
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19. |
Polymorphisms in XPC, XPD and XPG DNA repair genes and leukemia risk in a Tunisian population. |
Douzi K, etal., Leuk Lymphoma. 2015 Jun;56(6):1856-62. doi: 10.3109/10428194.2014.974045. Epub 2014 Nov 14.
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20. |
A history of TFIIH: two decades of molecular biology on a pivotal transcription/repair factor. |
Egly JM and Coin F, DNA Repair (Amst). 2011 Jul 15;10(7):714-21. doi: 10.1016/j.dnarep.2011.04.021. Epub 2011 May 17.
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21. |
XPD gene polymorphisms and the effects of induction chemotherapy in cytogenetically normal de novo acute myeloid leukemia patients. |
El-Tokhy MA, etal., Hematology. 2014 Oct;19(7):397-403. doi: 10.1179/1607845413Y.0000000144. Epub 2013 Nov 28.
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22. |
Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. |
Frederick GD, etal., Hum Mol Genet. 1994 Oct;3(10):1783-8.
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23. |
DNA repair polymorphisms associated with cytogenetic subgroups in B-cell chronic lymphocytic leukemia. |
Ganster C, etal., Genes Chromosomes Cancer. 2009 Sep;48(9):760-7. doi: 10.1002/gcc.20680.
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24. |
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. |
Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
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25. |
Prognostic value of ERCC1, ERCC2, XRCC1, and TP53 single nucleotide polymorphisms in patients with early-stage non-small cell lung cancer. |
Geredeli C, etal., Tumour Biol. 2015 Jun;36(6):4279-85. doi: 10.1007/s13277-015-3066-2. Epub 2015 Jan 18.
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26. |
Polymorphisms of DNA repair genes OGG1 and XPD and the risk of age-related cataract in Egyptians. |
Gharib AF, etal., Mol Vis. 2014 May 21;20:661-9. eCollection 2014.
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27. |
Rat ISS GO annotations from GOA human gene data--August 2006 |
GOA data from the GO Consortium
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28. |
Polymorphisms of the DNA repair genes XPD and XRCC1 and the risk of age-related macular degeneration. |
Gorgun E, etal., Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4732-7. doi: 10.1167/iovs.09-4842. Epub 2010 Apr 7.
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29. |
Changes in the expression of DNA double strand break repair genes in primordial follicles from immature and aged rats. |
Govindaraj V, etal., Reprod Biomed Online. 2015 Mar;30(3):303-10. doi: 10.1016/j.rbmo.2014.11.010. Epub 2014 Dec 4.
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30. |
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. |
Graham JM Jr, etal., Am J Hum Genet. 2001 Aug;69(2):291-300. Epub 2001 Jul 3.
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31. |
XRCC1 and XPD polymorphisms and their relation to the clinical course in hepatocarcinoma patients. |
Guan Q, etal., Oncol Lett. 2017 Sep;14(3):2783-2788. doi: 10.3892/ol.2017.6522. Epub 2017 Jul 5.
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32. |
Expression of DNA excision-repair-cross-complementing proteins p80 and p89 in brain of patients with Down Syndrome and Alzheimer's disease. |
Hermon M, etal., Neurosci Lett. 1998 Jul 17;251(1):45-8.
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33. |
A polymorphism in the XPD gene predisposes to leukemic transformation and new nonmyeloid malignancies in essential thrombocythemia and polycythemia vera. |
Hernandez-Boluda JC, etal., Blood. 2012 May 31;119(22):5221-8. doi: 10.1182/blood-2012-02-411215. Epub 2012 Apr 11.
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34. |
The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and pancreatic cancer risk. |
Jiao L, etal., Cancer Lett. 2007 Jan 8;245(1-2):61-8. Epub 2006 Feb 3.
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35. |
Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome. |
Joshi D, etal., Ann Hematol. 2016 Jan;95(1):79-85.
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36. |
ERCC2 genotypes and a corresponding haplotype are linked with breast cancer risk in a German population. |
Justenhoven C, etal., Cancer Epidemiol Biomarkers Prev. 2004 Dec;13(12):2059-64.
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37. |
Nucleotide excision repair: new tricks with old bricks. |
Kamileri I, etal., Trends Genet. 2012 Nov;28(11):566-73. doi: 10.1016/j.tig.2012.06.004. Epub 2012 Jul 22.
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38. |
Genetic polymorphisms and the efficacy and toxicity of cisplatin-based chemotherapy in ovarian cancer patients. |
Khrunin AV, etal., Pharmacogenomics J. 2010 Feb;10(1):54-61. Epub 2009 Sep 29.
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39. |
The Relationship Between Single-Nucleotide Polymorphisms, the Expression of DNA Damage Response Genes, and Hepatocellular Carcinoma in a Polish Population. |
Krupa R, etal., DNA Cell Biol. 2017 Aug;36(8):693-708. doi: 10.1089/dna.2017.3664. Epub 2017 Jun 9.
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40. |
New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataracts. |
Kunze S, etal., PLoS One. 2015 May 7;10(5):e0125304. doi: 10.1371/journal.pone.0125304. eCollection 2015.
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41. |
Polymorphisms in DNA repair genes and therapeutic outcomes of AML patients from SWOG clinical trials. |
Kuptsova N, etal., Blood. 2007 May 1;109(9):3936-44. Epub 2006 Dec 29.
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42. |
XPD DNA nucleotide excision repair gene polymorphisms associated with DNA repair deficiency predict better treatment outcomes in secondary acute myeloid leukemia. |
Kuptsova-Clarkson N, etal., Int J Mol Epidemiol Genet. 2010;1(4):278-94. Epub 2010 Aug 10.
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43. |
Genetic variability in drug transport, metabolism or DNA repair affecting toxicity of chemotherapy in ovarian cancer. |
Lambrechts S, etal., BMC Pharmacol Toxicol. 2015 Feb 27;16:2. doi: 10.1186/s40360-015-0001-5.
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44. |
Association of XPD/ERCC2 G23591A and A35931C polymorphisms with skin lesion prevalence in a multiethnic, arseniasis-hyperendemic village exposed to indoor combustion of high arsenic coal. |
Lin GF, etal., Arch Toxicol. 2010 Jan;84(1):17-24. doi: 10.1007/s00204-009-0474-3. Epub 2009 Oct 16.
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45. |
Polymorphisms of multiple genes involved in NER pathway predict prognosis of gastric cancer. |
Liu J, etal., Oncotarget. 2016 Jul 26;7(30):48130-48142. doi: 10.18632/oncotarget.10173.
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46. |
XPD codon 312 and 751 polymorphisms, and AFB1 exposure, and hepatocellular carcinoma risk. |
Long XD, etal., BMC Cancer. 2009 Nov 17;9:400. doi: 10.1186/1471-2407-9-400.
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47. |
Prognostic Value of Excision Repair Cross-Complementing mRNA Expression in Gastric Cancer. |
Luo SS, etal., Biomed Res Int. 2018 Oct 17;2018:6204684. doi: 10.1155/2018/6204684. eCollection 2018.
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48. |
Polymorphisms of the DNA repair genes XPD and XRCC1 and the risk of age-related cataract development in Han Chinese. |
Luo YF, etal., Curr Eye Res. 2011 Jul;36(7):632-6. doi: 10.3109/02713683.2011.571358. Epub 2011 May 20.
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49. |
Polymorphisms at XPD and XRCC1 DNA repair loci and increased risk of oral leukoplakia and cancer among NAT2 slow acetylators. |
Majumder M, etal., Int J Cancer. 2007 May 15;120(10):2148-56.
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50. |
Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk. |
McWilliams RR, etal., Cancer Res. 2008 Jun 15;68(12):4928-35. Epub 2008 Jun 10.
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51. |
Rat ISS GO annotations from MGI mouse gene data--August 2006 |
MGD data from the GO Consortium
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52. |
The R156R ERCC2 polymorphism as a risk factor of endometrial cancer. |
Michalska MM, etal., Tumour Biol. 2016 Feb;37(2):2171-6. doi: 10.1007/s13277-015-4040-8. Epub 2015 Sep 9.
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53. |
A phase II trial of erlotinib in combination with gemcitabine and capecitabine in previously untreated metastatic/recurrent pancreatic cancer: combined analysis with translational research. |
Oh DY, etal., Invest New Drugs. 2012 Jun;30(3):1164-74. doi: 10.1007/s10637-011-9651-3. Epub 2011 Mar 15.
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54. |
OMIM Disease Annotation Pipeline |
OMIM Disease Annotation Pipeline
|
55. |
KEGG Annotation Import Pipeline |
Pipeline to import KEGG annotations from KEGG into RGD
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56. |
SMPDB Annotation Import Pipeline |
Pipeline to import SMPDB annotations from SMPDB into RGD
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57. |
No association between the XPD Lys751Gln (rs13181) polymorphism and disease phenotype or leukemic transformation in primary myelofibrosis. |
Poletto V, etal., Haematologica. 2013 Aug;98(8):e83-4. doi: 10.3324/haematol.2013.086496. Epub 2013 May 28.
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58. |
Hepatitis B virus transactivator protein, HBx, associates with the components of TFIIH and stimulates the DNA helicase activity of TFIIH. |
Qadri I, etal., Proc Natl Acad Sci U S A. 1996 Oct 1;93(20):10578-83.
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59. |
DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma. |
Rajaraman P, etal., Neuro Oncol. 2010 Jan;12(1):37-48. Epub 2009 Dec 10.
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60. |
ClinVar Automated Import and Annotation Pipeline |
RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
|
61. |
Data Import for Chemical-Gene Interactions |
RGD automated import pipeline for gene-chemical interactions
|
62. |
Comprehensive gene review and curation |
RGD comprehensive gene curation
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63. |
Nucleotide excision repair gene polymorphisms may predict acute toxicity in patients treated with chemoradiotherapy for bladder cancer. |
Sakano S, etal., Pharmacogenomics. 2010 Oct;11(10):1377-87. doi: 10.2217/pgs.10.106.
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64. |
ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln polymorphisms are independent prognostic factors for the clinical course of melanoma. |
Schrama D, etal., J Invest Dermatol. 2011 Jun;131(6):1280-90. doi: 10.1038/jid.2011.35. Epub 2011 Mar 10.
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65. |
Impact of ERCC2 gene polymorphism on HIV-1 disease progression to AIDS among North Indian HIV patients. |
Sobti RC, etal., Mol Biol Rep. 2011 Jun;38(5):2945-52. Epub 2010 Feb 2.
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66. |
Single nucleotide polymorphisms of nucleotide excision repair pathway are significantly associated with outcomes of platinum-based chemotherapy in lung cancer. |
Song X, etal., Sci Rep. 2017 Sep 18;7(1):11785. doi: 10.1038/s41598-017-08257-7.
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67. |
The genotype distribution of the XRCC1, XRCC3, and XPD DNA repair genes and their role for the development of acute myeloblastic leukemia. |
Sorour A, etal., Genet Test Mol Biomarkers. 2013 Mar;17(3):195-201. doi: 10.1089/gtmb.2012.0278. Epub 2013 Feb 11.
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68. |
Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes. |
Srivastava K, etal., PLoS One. 2011 Jan 21;6(1):e16449.
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69. |
Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients. |
Strom SS, etal., Leuk Lymphoma. 2010 Apr;51(4):598-605. doi: 10.3109/10428190903582804.
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70. |
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. |
Takayama K, etal., Hum Mutat. 1997;9(6):519-25.
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71. |
Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse models. |
van de Ven M, etal., DNA Repair (Amst). 2012 Nov 1;11(11):874-83. doi: 10.1016/j.dnarep.2012.08.003. Epub 2012 Oct 7.
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72. |
Polymorphisms in the genes ERCC2, XRCC3 and CD3EAP influence treatment outcome in multiple myeloma patients undergoing autologous bone marrow transplantation. |
Vangsted A, etal., Int J Cancer. 2007 Mar 1;120(5):1036-45. doi: 10.1002/ijc.22411.
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73. |
Nucleotide excision repair gene expression in the rat conceptus during organogenesis. |
Vinson RK and Hales BF, Mutat Res. 2001 Jul 12;486(2):113-23.
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74. |
Analysis of ERCC2/XPD functional polymorphisms in systemic lupus erythematosus. |
Wan L, etal., Int J Immunogenet. 2009 Feb;36(1):33-7. Epub 2008 Nov 25.
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75. |
Whole-exome sequencing of muscle-invasive bladder cancer identifies recurrent mutations of UNC5C and prognostic importance of DNA repair gene mutations on survival. |
Yap KL, etal., Clin Cancer Res. 2014 Dec 15;20(24):6605-17. doi: 10.1158/1078-0432.CCR-14-0257. Epub 2014 Oct 14.
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76. |
A haplotype encompassing the variant allele of DNA repair gene polymorphism ERCC2/XPD Lys751Gln but not the variant allele of Asp312Asn is associated with risk of lung cancer in a northeastern Chinese population. |
Yin J, etal., Cancer Genet Cytogenet. 2007 May;175(1):47-51.
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77. |
DNA repair pathway profiling and microsatellite instability in colorectal cancer. |
Yu J, etal., Clin Cancer Res. 2006 Sep 1;12(17):5104-11. doi: 10.1158/1078-0432.CCR-06-0547.
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78. |
Increased expression of ERCC2 gene in head and neck cancer is associated with aggressive tumors: a systematic review and case-control study. |
Zafeer M, etal., Int J Biol Markers. 2016 Feb 28;31(1):e17-25. doi: 10.5301/jbm.5000186.
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79. |
[Relation of polymorphisms of the XPD and GSTM1 genes with susceptibility to hepatocellular carcinoma in Qinghai Tibetans]. |
Zhao JH, etal., Zhonghua Gan Zang Bing Za Zhi. 2014 Nov;22(11):831-6. doi: 10.3760/cma.j.issn.1007-3418.2014.11.007.
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80. |
Susceptibility of XPD and hOGG1 genetic variants to prostate cancer. |
Zhou C, etal., Biomed Rep. 2013 Jul;1(4):679-683. Epub 2013 May 30.
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