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ISSN Druckformat: 0893-9675
ISSN Online: 2162-6448
Indexed in
Xeroderma Pigmentosum: A Glimpse into Nucleotide Excision Repair, Genetic Instability, and Cancer
ABSTRAKT
Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by extreme sensitivity to sunlight and severe predisposition to UV-induced skin cancer. Seven genes, ranging from XPA to XPG, are defective in XP. These genes are important components of the nucleotide excision repair (NER) system, which removes DNA damage induced by solar radiation, thereby preventing genome instability and carcinogenesis. In addition, XPV patients are defective in a translesion synthesis activity specialized in bypassing UV-induced lesions, and share symptoms with other XP patients. This review will focus on the evidence that elucidates the link between defective NER, genetic instability, and oncogenesis.
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Pikor Larissa, Thu Kelsie, Vucic Emily, Lam Wan, The detection and implication of genome instability in cancer, Cancer and Metastasis Reviews, 32, 3-4, 2013. Crossref
-
Martin Sarah A, Hewish Madeleine, Lord Christopher J, Ashworth Alan, Genomic instability and the selection of treatments for cancer, The Journal of Pathology, 2009. Crossref
-
Wen Hui, Ding Qiang, Fang Zu-jun, Xia Guo-wei, Fang Jie, Population study of genetic polymorphisms and superficial bladder cancer risk in Han-Chinese smokers in Shanghai, International Urology and Nephrology, 41, 4, 2009. Crossref
-
D'Orazio John A., Inherited Cancer Syndromes in Children and Young Adults, Journal of Pediatric Hematology/Oncology, 32, 3, 2010. Crossref
-
Smith Dean L., Walsh Mark, Smith Jane P., Running Posture and Step Length Changes Immediately After Chiropractic Treatment in a Patient With Xeroderma Pigmentosum, Journal of Manipulative and Physiological Therapeutics, 32, 1, 2009. Crossref
-
Rouissi Kamel, Ouerhani Slah, Hamrita Bechr, Bougatef Karim, Marrakchi Raja, Cherif Mohamed, Ben Slama Mohamed Riadh, Bouzouita Mohamed, Chebil Mohamed, Ben Ammar Elgaaied Amel, Smoking and Polymorphisms in Xenobiotic Metabolism and DNA Repair Genes are Additive Risk Factors Affecting Bladder Cancer in Northern Tunisia, Pathology & Oncology Research, 17, 4, 2011. Crossref
-
Harris Valerie K., Schiffman Joshua D., Boddy Amy M., Evolution of Cancer Defense Mechanisms Across Species, in Ecology and Evolution of Cancer, 2017. Crossref
-
Hosler Gregory A., Murphy Kathleen M., Basics of Nucleic Acids and Molecular Biology, in Molecular Diagnostics for Dermatology, 2014. Crossref
-
Fisher Elizabeth M. C., Lana-Elola Eva, Watson Sheona D., Vassiliou George, Tybulewicz Victor L. J., New approaches for modelling sporadic genetic disease in the mouse, Disease Models & Mechanisms, 2, 9-10, 2009. Crossref
-
Latimer Jean J., Johnson Jennifer M., Kelly Crystal M., Miles Tiffany D., Beaudry-Rodgers Kelly A., Lalanne Nancy A., Vogel Victor G., Kanbour-Shakir Amal, Kelley Joseph L., Johnson Ronald R., Grant Stephen G., Nucleotide excision repair deficiency is intrinsic in sporadic stage I breast cancer, Proceedings of the National Academy of Sciences, 107, 50, 2010. Crossref
-
Klein George, Toward a genetics of cancer resistance, Proceedings of the National Academy of Sciences, 106, 3, 2009. Crossref
-
Khan Sharik R., Kuzminov Andrei, Replication Forks Stalled at Ultraviolet Lesions Are Rescued via RecA and RuvABC Protein-catalyzed Disintegration in Escherichia coli, Journal of Biological Chemistry, 287, 9, 2012. Crossref
-
Sykora Peter, Croteau Deborah L., Bohr Vilhelm A., Wilson David M., Aprataxin localizes to mitochondria and preserves mitochondrial function, Proceedings of the National Academy of Sciences, 108, 18, 2011. Crossref
-
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