Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 12 of 12 for “"DNA interstrand-crosslinks"”.
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Understanding of Intrinsic Sources of DNA Damage that Drive Human Disease: A Foray into the Study of DNA Interstrand Crosslinks and Genome-Embedded Ribonucleotides
<p>Sources of damage to deoxyribonucleic acid (DNA) can be categorized broadly into exogenous and endogenous. Exogenous sources range from environmental (e.g., air pollution, tobacco and alcohol, ultraviolet (UV) radiation due to sun exposure), to pharmaceutical sources (e.g., chemotherapeutics …
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Modulated Functions of The Fanconi Anemia Core Complex
… are characterized by hypersensitivity to DNA interstrand crosslinks (ICLs), suggesting that FA genes play a role in ICL repair. Fanconi anemia core complex (including A, B, C, E, F, G, L, FAAP20, and FAAP100) activates the Fanconi pathway by providing the essential E3 ligase activity for …
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Clinical resistance to platinum chemotherapy in ovarian cancer
… ovarian cancer. Their cytotoxicty results from DNA crosslinking. High tumour response rates are seen, but 80 % of patients relapse. Major mechanisms of platinum resistance in patients remain to be established. We have studied DNA interstrand crosslinking and its repair in response to ex vivo …
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Nucleotide Excision Repair, Crosslink Repair and Transcriptional Function of Xpa In Human Cells
… the cell nucleus even in the absence of external DNA damage, in contrast to previous reports that XPA is normally resident in the cytoplasm and is imported following DNA damage. We then analyzed four genetically matched human cell line pairs deficient or proficient in XPA. At a false discovery …
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Regulation of structure-selective nucleases by the SLX4 scaffold in ICL repair and HJ resolution
… that directs the formation of a multi-protein DNA processing toolkit that includes three different structure-selective endonucleases: XPF-ERCC1, MUS81-EME1 and SLX1. The SLX4 complex has been shown to have essential roles in repair of DNA interstrand crosslinks (ICLs). In addition to its role …
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Defining the role of endonuclease VIII-like 1 and 3 in the repair of interstrand crosslinks in cancer cells
… from FA patients are unusually sensitive to DNA crosslinking agents and it is now known that FA cells lack one of twenty-two known different FA complementation group (FANC) proteins involved in the repair of DNA interstrand crosslinks (ICLs). More recently, two DNA glycosylases (endonuclease …
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Molecular Characterization of Novel Mutations in Fanconi Anemia Patients
… proteins are required for the proper repair of DNA interstrand crosslinks (ICL), a deleterious type of DNA damage that covalently binds DNA strands. We have used Whole Exome Sequencing (WES) in conjunction with cell-based assays to determine disease-causing mutations in a subset of patients …
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Investigating the Role of Reactive Aldehydes in the Development of Head and Neck Squamous Cell Carcinoma in Fanconi Anemia
… cell carcinoma (HNSCC). Typically, the FA DNA repair pathway, which is responsible for the repair of DNA interstrand crosslinks, is ubiquitously found in all tissues; however, FA patients lose the FA DNA repair pathway in all their tissues. Despite the absence of this pathway in all their …
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Structural and Biochemical Investigation of Fanconi Anemia Pathway Activation
DNA interstrand-crosslinks (ICLs) are covalent links between complementary DNA strands that prevent their separation, interfering with fundamental cellular processes such as DNA replication and transcription. Consequently, these DNA lesions are highly toxic and the inability to repair them results …
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Investigation into ubiquitin signalling in response to cisplatin
… anti-cancer drug that acts by introducing toxic DNA interstrand crosslinks into proliferating cells, causing both cytostatic and cytotoxic effects. Although various models of the interstrand crosslink (ICL) response have been proposed, none of them are complete and much still remains unknown …
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New Insights into the Roles of FAN1 Nuclease in Genome Maintenance and Disease
… threat to every species, and therefore robust DNA damage repair mechanisms have evolved to protect against genotoxic threats. FANCD2 and FANCI associated nuclease 1 (FAN1) has roles in protection against two major threats to genomic stability: DNA interstrand crosslinks (ICLs), and the …
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Caretaker-Gen-Syndrome
… dieser Aberrationen wurden allerdings nur auf cDNA-Ebene detektiert. Sollte es sich hierbei in den meisten Fällen um Mutationen an den Spleiß-Konsensussequenzen handeln, läge der Anteil der Spleißmutationen im ATM-Gen beträchtlich höher (~35 Prozent) als in anderen betroffenen Genen (~15 …