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 10 of 10 for “"Cancer associated mutations"”.
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FRK cancer-related mutations: Effect on enzymatic activity and cellular processes
Cancer-associated FRK mutations have not been thoroughly studied however, a previous study analyzed six cancer related mutations of BRK L16F, R131L, V253M, N317S, L343F, P450L; and it was found that there are similar residues in FRK. We identified R64P, K87N, S145R, K265R, N359I, del V378-F379 (VF) …
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Cell Cycle Regulation and Cancer: The Emerging Role of KIAA1143
… governing these checkpoints, diseases such as cancer frequently arise. These checkpoints include the G1/S transition, where cancer-associated mutations are most prevalent, the G2/M transition, and the spindle checkpoints. In this study, we characterize the novel gene KIAA1143 and explore its …
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Genome-wide CRISPR Screening in FBXW7-mutant Cells Uncovers Multiple Druggable Synthetic Lethal Interactions Involving Cell Cycle Control
… actively dividing cells, with both healthy and cancerous cells being damaged, causing toxic side effects. Personalized oncology aims to selectively target cancerous cells based on their mutational status, minimizing toxic and life-altering side effects, while effectively blocking the cancer’s …
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Structural and Functional Studies of ASCC1 in DNA and RNA Alkylation Damage Response
… domains: nucleotide-binding K-Homology (KH) (associated with splicing, transcriptional regulation, and translational control) and two-histidine phosphodiesterase (PDE) (associated with hydrolysis of cyclic nucleotide phosphate bonds). Germline mutations link ASCC1 loss of function to spinal …
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Using S. pombe to Study the Biological Roles of the Histone Deacetylases Sir2 and Clr3 and the DEAD-Box RNA Helicase Ded1
… Sir2 and Clr3 in heterochromatin formation and cancer associated mutations of the DEAD-box RNA helicase DDX3X, homolog of fission yeast Ded1, in translational control. Heterochromatin in fission yeast is characterized by hypoacetylation as well as methylation of histone H3 on lysine 9 (H3K9me). …
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Automatic Tumour Typing based on Patterns of Somatic Passenger Mutations
In cancer, a tumour’s cell of origin is the strongest determinant of its clinical behaviour. While cell of origin is typically clear at the time of diagnosis, 3-5% of cancer patients present with a metastatic tumour and no obvious corresponding primary tumour. Despite advances in molecular testing, …
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Dynamics and utility of cell-free DNA release following radiotherapy in prostate cancer and non-small cell lung cancer
… undergoing radiotherapy for prostate and lung cancer; samples from a sub-cohort underwent methylation analysis and NGS. METHODS: Analysis of blood plasma cfDNA was carried out on samples from patients receiving stereotactic ablative body radiotherapy for non-small cell lung cancer (n=39), …
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Prevalence and fate of pro-oncogenic clones in the human colon
… tissues are thought to exist as a patchwork of mutations. The detection of cancer-driver mutations in the normal human colonic epithelium had been so far limited. Using immunohistochemistry and sequencing methods, and by screening a large number of patients and crypts, pro-oncogenic clones were …
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Mechanistic Investigation of Genotype-Phenotype Correlations in PIK3R1-Related Diseases
… and molecular mechanisms whereby PIK3R1 mutations cause diverse disease phenotypes observed in SHORT syndrome (defined by Short stature, Hyperextensibility, Ocular depression, Rieger anomaly and Teething delay), the primary immunodeficiency Activated PI3K-$\delta$ Syndrome 2 (APDS2), and …
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Suppression and activation of lipid signalling in cancer : tumour suppressor PTEN and oncogenic sphingosine kinase
… frequently mutated tumour suppressor gene in cancer. It is a lipid and protein phosphatase that negatively regulates the well-known pro-proliferative and anti-apoptotic phosphatidylinositol 3-kinase (PI3K)/AKT signalling pathway to modulate cell proliferation, cell cycle progression and cell …