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Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am J Hum Genet. 2001 Aug;69(2):291-300. doi: 10.1086/321295. Epub 2001 Jul 3.
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Genetic polymorphisms in the DNA repair genes XPD and XRCC1, p53 gene mutations and bladder cancer risk.Oncol Rep. 2010 Jul;24(1):257-62. doi: 10.3892/or_00000854.
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3 |
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene. Hum Mutat. 2009 Mar;30(3):438-45. doi: 10.1002/humu.20912.
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4 |
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
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Acute megakaryoblastic leukemia in a patient with xeroderma pigmentosum: discussion of pathophysiological, prognostic, and toxicological aspects.Acta Haematol. 2013;129(2):121-5. doi: 10.1159/000342897. Epub 2012 Nov 28.
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Genetic polymorphisms in DNA repair genes XPC, XPD, and XRCC4, and susceptibility to Helicobacter pylori infection-related gastric antrum adenocarcinoma in Guangxi population, China.Mol Carcinog. 2010 Jun;49(6):611-8. doi: 10.1002/mc.20630.
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Genetic variability in DNA repair proteins in age-related macular degeneration.Int J Mol Sci. 2012 Oct 18;13(10):13378-97. doi: 10.3390/ijms131013378.
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Association of ERCC2 Gene Polymorphisms with Susceptibility to Diffuse Large B-Cell Lymphoma.Med Sci Monit. 2018 Oct 3;24:7015-7022. doi: 10.12659/MSM.908813.
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Polymorphism in the nuclear excision repair gene ERCC2/XPD: association between an exon 6-exon 10 haplotype and susceptibility to cutaneous basal cell carcinoma.Hum Mutat. 2005 Apr;25(4):353-9. doi: 10.1002/humu.20158.
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Polymorphism of DNA repair genes OGG1, XRCC1, XPD and ERCC6 in bladder cancer in Belarus.Biomarkers. 2014 Sep;19(6):509-16. doi: 10.3109/1354750X.2014.943291. Epub 2014 Aug 4.
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DNA repair gene ERCC2 polymorphisms and associations with breast and ovarian cancer risk.Mol Cancer. 2008 May 2;7:36. doi: 10.1186/1476-4598-7-36.
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Association Between ERCC1 rs3212986 and ERCC2/XPD rs1799793 and OS in Patients With Advanced Esophageal Cancer.Front Oncol. 2019 Feb 21;9:85. doi: 10.3389/fonc.2019.00085. eCollection 2019.
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Decreased expression of DNA repair genes (XRCC1, ERCC1, ERCC2, and ERCC4) in squamous intraepithelial lesion and invasive squamous cell carcinoma of the cervix.Mol Cell Biochem. 2013 May;377(1-2):45-53. doi: 10.1007/s11010-013-1569-y. Epub 2013 Feb 23.
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Evaluating chromosomal damage in workers exposed to hexavalent chromium and the modulating role of polymorphisms of DNA repair genes.Int Arch Occup Environ Health. 2012 Jul;85(5):473-81. doi: 10.1007/s00420-011-0684-x. Epub 2011 Aug 20.
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RRM1, RRM2 and ERCC2 Gene Polymorphisms in Coronary Artery Disease.In Vivo. 2016 09-10;30(5):611-5.
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Polymorphism in the ERCC2 codon 751 is associated with arsenic-induced premalignant hyperkeratosis and significant chromosome aberrations. Carcinogenesis. 2007 Mar;28(3):672-6. doi: 10.1093/carcin/bgl181. Epub 2006 Oct 17.
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A pooled analysis of the ERCC2 Asp312Asn polymorphism and esophageal cancer susceptibility.Tumour Biol. 2014 Apr;35(4):2959-65. doi: 10.1007/s13277-013-1380-0.
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Genetic risk of subsequent esophageal cancer in lymphoma and breast cancer long-term survival patients: a pilot study.Pharmacogenomics J. 2016 Jun;16(3):266-71. doi: 10.1038/tpj.2015.41. Epub 2015 Jun 9.
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XPD suppresses cell proliferation and migration via miR-29a-3p-Mdm2/PDGF-B axis in HCC.Cell Biosci. 2019 Jan 5;9:6. doi: 10.1186/s13578-018-0269-4. eCollection 2019.
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Xeroderma pigmentosum group D 751 polymorphism as a predictive factor in resected gastric cancer treated with chemo-radiotherapy.World J Gastroenterol. 2006 Oct 7;12(37):6032-6. doi: 10.3748/wjg.v12.i37.6032.
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21 |
Genetic predisposition to lung adenocarcinoma among never-smoking Chinese with different epidermal growth factor receptor mutation status.Lung Cancer. 2017 Dec;114:79-89. doi: 10.1016/j.lungcan.2017.10.012. Epub 2017 Oct 31.
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Association between the ERCC2 Asp312Asn polymorphism and risk of cancer.Oncotarget. 2017 Jul 18;8(29):48488-48506. doi: 10.18632/oncotarget.17290.
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Histopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degeneration.Otol Neurotol. 2013 Sep;34(7):1230-6. doi: 10.1097/MAO.0b013e31829795e9.
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DNA repair polymorphisms in B-cell chronic lymphocytic leukemia in sufferers of Chernobyl Nuclear Power Plant accident.J Radiat Res. 2012;53(3):497-503. doi: 10.1269/jrr.11093.
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Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors.Nat Genet. 2016 Jun;48(6):600-606. doi: 10.1038/ng.3557. Epub 2016 Apr 25.
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Insulin-like growth factors II exon 9 and E-cadherin-Pml I but not myeloperoxidase promoter-463, urokinase-ApaL I nor xeroderma pigmentosum polymorphisms are associated with higher susceptibility to leiomyoma.Anticancer Res. 2010 Jun;30(6):2203-8.
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ERCC2 2251A>C genetic polymorphism was highly correlated with early relapse in high-risk stage II and stage III colorectal cancer patients: a preliminary study.BMC Cancer. 2008 Feb 12;8:50. doi: 10.1186/1471-2407-8-50.
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XPD gene polymorphism and host characteristics in the association with cutaneous malignant melanoma risk.Br J Cancer. 2004 Jan 26;90(2):497-502. doi: 10.1038/sj.bjc.6601385.
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Monogenic and polygenic determinants of sarcoma risk: an international genetic study. Lancet Oncol. 2016 Sep;17(9):1261-71. doi: 10.1016/S1470-2045(16)30147-4. Epub 2016 Aug 4.
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Are XPD and XPG gene variants related to the mechanism of oral squamous cell carcinoma?.Cell Mol Biol (Noisy-le-grand). 2018 Dec 31;64(15):94-99.
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Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. Hum Mol Genet. 2002 Nov 1;11(23):2919-28. doi: 10.1093/hmg/11.23.2919.
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Xeroderma Pigmentosum. 2003 Jun 20 [updated 2022 Mar 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
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ERCC polymorphisms and risk of osteosarcoma: a meta-analysis.Eur Rev Med Pharmacol Sci. 2018 Oct;22(20):6658-6666. doi: 10.26355/eurrev_201810_16142.
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XRCC1 and XPD genetic polymorphisms and susceptibility to age-related cataract: a meta-analysis.Mol Vis. 2015 Mar 30;21:335-46. eCollection 2015.
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Transcription preinitiation complex structure and dynamics provide insight into genetic diseases.Nat Struct Mol Biol. 2019 Jun;26(6):397-406. doi: 10.1038/s41594-019-0220-3. Epub 2019 May 20.
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The Differential Expression of Core Genes in Nucleotide Excision Repair Pathway Indicates Colorectal Carcinogenesis and Prognosis.Biomed Res Int. 2018 Jan 15;2018:9651320. doi: 10.1155/2018/9651320. eCollection 2018.
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The R156R ERCC2 polymorphism as a risk factor of endometrial cancer.Tumour Biol. 2016 Feb;37(2):2171-6. doi: 10.1007/s13277-015-4040-8. Epub 2015 Sep 9.
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Lethality in yeast of trichothiodystrophy (TTD) mutations in the human xeroderma pigmentosum group D gene. Implications for transcriptional defect in TTD.J Biol Chem. 1995 Jul 28;270(30):17660-3. doi: 10.1074/jbc.270.30.17660.
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Polymorphisms in XPC, XPD and XPG DNA repair genes and leukemia risk in a Tunisian population.Leuk Lymphoma. 2015 Jun;56(6):1856-62. doi: 10.3109/10428194.2014.974045. Epub 2014 Nov 14.
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Association of XPD polymorphisms with prostate cancer in Taiwanese patients.Anticancer Res. 2007 Jul-Aug;27(4C):2893-6.
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41 |
Integrating multiple omics to unravel mechanisms of Cyclosporin A induced hepatotoxicity in vitro. Toxicol In Vitro. 2015 Apr;29(3):489-501.
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42 |
Transcriptional and Metabolic Dissection of ATRA-Induced Granulocytic Differentiation in NB4 Acute Promyelocytic Leukemia Cells. Cells. 2020 Nov 5;9(11):2423. doi: 10.3390/cells9112423.
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Bringing in vitro analysis closer to in vivo: studying doxorubicin toxicity and associated mechanisms in 3D human microtissues with PBPK-based dose modelling. Toxicol Lett. 2018 Sep 15;294:184-192.
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44 |
Low doses of cisplatin induce gene alterations, cell cycle arrest, and apoptosis in human promyelocytic leukemia cells. Biomark Insights. 2016 Aug 24;11:113-21.
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Changes in gene expressions elicited by physiological concentrations of genistein on human endometrial cancer cells. Mol Carcinog. 2006 Oct;45(10):752-63.
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46 |
Quantitative proteomics reveals a broad-spectrum antiviral property of ivermectin, benefiting for COVID-19 treatment. J Cell Physiol. 2021 Apr;236(4):2959-2975. doi: 10.1002/jcp.30055. Epub 2020 Sep 22.
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Chronic occupational exposure to arsenic induces carcinogenic gene signaling networks and neoplastic transformation in human lung epithelial cells. Toxicol Appl Pharmacol. 2012 Jun 1;261(2):204-16.
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Repurposing L-menthol for systems medicine and cancer therapeutics? L-menthol induces apoptosis through caspase 10 and by suppressing HSP90. OMICS. 2016 Jan;20(1):53-64.
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49 |
Beta-carotene and apocarotenals promote retinoid signaling in BEAS-2B human bronchioepithelial cells. Arch Biochem Biophys. 2006 Nov 1;455(1):48-60.
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Characterization of arecoline-induced effects on cytotoxicity in normal human gingival fibroblasts by global gene expression profiling. Toxicol Sci. 2007 Nov;100(1):66-74.
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51 |
Bisphenol A induces DSB-ATM-p53 signaling leading to cell cycle arrest, senescence, autophagy, stress response, and estrogen release in human fetal lung fibroblasts. Arch Toxicol. 2018 Apr;92(4):1453-1469.
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Comparison of the global gene expression profiles produced by methylparaben, n-butylparaben and 17beta-oestradiol in MCF7 human breast cancer cells. J Appl Toxicol. 2007 Jan-Feb;27(1):67-77. doi: 10.1002/jat.1200.
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Microarray analysis of H2O2-, HNE-, or tBH-treated ARPE-19 cells. Free Radic Biol Med. 2002 Nov 15;33(10):1419-32.
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Molecular mechanisms of quercitrin-induced apoptosis in non-small cell lung cancer. Arch Med Res. 2014 Aug;45(6):445-54.
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55 |
Polymorphism in the ERCC2 codon 751 is associated with arsenic-induced premalignant hyperkeratosis and significant chromosome aberrations. Carcinogenesis. 2007 Mar;28(3):672-6. doi: 10.1093/carcin/bgl181. Epub 2006 Oct 17.
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56 |
DNA repair gene deficiency does not predispose human bronchial epithelial cells to benzo(a)pyrene-induced cell transformation. Toxicol In Vitro. 2012 Jun;26(4):579-84. doi: 10.1016/j.tiv.2012.02.002. Epub 2012 Feb 22.
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