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Showing 1 to 18 of 18 for “"FANCD2"”.
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FANCD2 in relation to BRCA2 mutated breast cancer
… DNA repair pathways controlled by PARP-1 and FANCD2, take over (Kais et al., 2016). Tissue staining for the active unit of telomerase (hTERT) and FANCD2 was performed on 470 BC samples on tissue microarrays (TMAs). It was evaluated whether overexpression of these proteins in the cell nuclei …
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The p97 cofactors UBXN7 and UBXN8 interact with and modulate the function of cullin-RING complexes and Fanconi anaemia proteins FANCD2/FANCI, respectively
… proteins, including the Fanconi anaemia proteins FANCD2 and FANCI. I could show that homodimeric UBXN8 interacts directly with non-ubiquitylated FANCD2 and FANCI. The direct binding of UBXN8 to the non-ubiquitylated FA proteins supports the notion that UBX-only proteins interact with substrates in …
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Studio del meccanismo di riparazione del DNA nelle leucemie in età pediatrica: alterazioni dei geni NBS1, Fancd2, Palb2 ed espressione dei geni BRCA1 e BRCA2.
… dell'Anemia di Fanconi (FA) (BRCA1, BRCA2, FANCD2 e PALB2), che coopera con il gene della sindrome da rottura di Nijmegen (NBS1). Abbiamo voluto la correlazione tra alterazioni del meccanismo di riparazione del DNA e l’insorgenza di recidive e/o con tossicità grave (grado III-IV – CTCAE) …
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Modulated Functions of The Fanconi Anemia Core Complex
… providing the essential E3 ligase activity for FANCD2 mono-ubiquitination. Previous studies suggested the existence of three protein-protein interaction groups. However, the functions of most FA core complex protein are still limited to their presence in the complex. How the spatially-defined …
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Separate Roles of FAN1 and Fanconi Anemia Proteins in DNA Interstrand Crosslink Repair and Human Disease
… steps. Here, we assessed the contributions of FANCD2/FANCI-Associated Nuclease 1 (FAN1) to the repair of ICL lesions and studied the consequences of its deficiency, which results in rare chronic kidney disease - Karyomegalic Interstitial Nephritis (KIN). FAN1 is a highly conserved nuclease from …
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Defining the role of endonuclease VIII-like 1 and 3 in the repair of interstrand crosslinks in cancer cells
… NEIL1 or NEIL3 expression in cell lines lacking FANCD2, of the monoubiquitinated DNA-heterodimer protein complex FANCD2/FANCI, could significantly affect their sensitivity to ICL-inducing agents, such as mitomycin C and cisplatin. An FA original and two FA-generated cancerous cell model systems …
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The Crosstalk Between DNA Mismatch Repair and Replication
… the recruitment of fork protection factors FANCD2 and BRCA1 to replication forks, and promotes MRE11-catalyzed nascent strand degradation. This MMR-dependent degradation causes DNA breaks and chromosome abnormalities, thereby promoting an ultramutator phenotype. Therefore, our findings …
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Identification of MEN1 loss-off function as a potential biomarker for immune checkpoint therapy
… but in some cases, such as the stabilisation of FANCD2, also via direct protein binding. MEN1 mutation predisposes to multiple endocrine neoplasia 1 syndrome, characterised by the development of a range of neuroendocrine tumours, and affected patients have limited treatment options. The biology …
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Post-Replicative Resolution of Under-Replication
… to spontaneous under-replication, and include FANCD2 and MiDAS, which function in early mitosis to facilitate completion of replication before cells enter anaphase. In conclusion, a series of mechanisms that sequentially function throughout the cell cycle protects the stability of the human …
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DNA repair and sister chromatid exchange
… investigating the Werner (WRN), Bloom (BLM), and FANCD2 proteins. I also investigated the role of non-homologous end joining (NHEJ) by examining the DNA-dependent protein kinase (DNA-PKcs), both the Ku70/80 heterodimer and the catalytic subunit (DNA-PKcs), and Artemis. ERCC1 is a representative …
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Fancm and Faap24 Maintain Genomic Stability Through Cooperative and Unique Functions
… chromatin localization of FA core complex and FANCD2 monoubiqutination. They also cooperatively function to suppress sister chromatid exchange and radial chromosome formation, likely by limiting crossovers in recombination repair. In addition, I defined novel non-overlapping functions of FANCM …
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Genomic changes in Fanconi anemia: implications for diagnosis, pathogenesis and prognosis
… FANCG interact in a nuclear complex upstream of FANCD2. Complementation group FA-D1 was recently shown to be due to biallelic mutations in the human breast cancer gene 2 (BRCA2). After DNA damage, the nuclear complex regulates monoubiquitylation of FANCD2, result- ing in targeting of this protein …
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The Adenylate-Uridylate-Rich element RNA binding protein ZFP36L1 suppresses replication stress-induced genomic instability
… loss of ZFP36L1 increases the prevalence of FANCD2-associated anaphase ultra-fine bridges indicating chromatid non-disjunction at intrinsically labile common fragile site loci. Furthermore, we detected an increase in RPA and γH2AX foci in S/G2 cells indicative of replication stress-induced …
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Fanconi Anaemia DNA crosslink repair factors protect against LINE-1 retrotransposition during mammalian development
… DNA replication fork stability (BRCA1 and FANCD2). Despite this, two key questions remain to be elucidated; firstly, how does the DNA repair machinery suppress LINE-1 retrotransposition? And secondly, is DNA repair a physiologically relevant LINE-1 restriction mechanism? Here, using reverse …
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Structural and Biochemical Investigation of Fanconi Anemia Pathway Activation
… and repairs DNA ICLs. Ubiquitination of the FANCD2-FANCI (D2-I) complex by a multi-subunit ubiquitin E3 ligase, the FA core complex, is a key step of the FA pathway. D2-I ubiquitination initiates ICL repair by recruiting endonucleases to remove the DNA lesion, which is subsequently repaired …
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Identification of determinants of sensitivity to duocarmycin analogues: A class of potent anti-cancer drugs
… data was also carried out identifying RAD54 and FANCD2 to be upregulated in sensitive cell lines. To determine potential single genomic determinants of sensitivity to duocarmycins, genome-wide knockout CRISPR-Cas9 screens were carried out in two cell lines, UT-SCC-54C and KBM7, and with two …
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New Insights into the Roles of FAN1 Nuclease in Genome Maintenance and Disease
… 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 expansion of trinucleotide repeats. ICLs are highly deleterious lesions that disrupt …
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Caretaker-Gen-Syndrome
… Dennoch erscheinen seit der Identifizierung des FANCD2, das durch den FA-Komplex aktiviert wird und mit dem RAD51-Interaktor BRCA1 in nukleäre Foci kolokalisiert, weitere Untersuchungen einer Verknüpfung der FA-Proteine mit den Angehörigen des HRR-Weges durchaus sinnvoll.