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 8 of 8 for “"hotspot mutation"”.
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Persistent Oxidative Damage Accounts for the Origin of Mutations Observed in Uterine Pathology
… gene. The type I endometrial cancer PTEN hotspot mutation involves a cytosine to guanine transversion. The mechanism for C to G transversions in endometrial tissue has not been previously explained. For the first time, we show that the CpG dinucleotide of codon 130 is methylated, which …
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Cooperative Genomic Events Driving Mutant TP53-Driven DCIS Progression
… and breast cancer suggest that <em>TP53</em> mutations occur early in DCIS, suggesting a critical role for mutant <em>TP53</em> in driving disease progression. Using a somatic mouse model of <em>p53<sup>R245W</sup></em> induced breast cancer (equivalent to the <em>TP53<sup>R248W</sup></em> …
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Omics Approaches to Uncover Germline and Somatic Variation Underlying Inherited Sarcomagenesis
… a high incidence of sarcomas. LFS is caused by mutations in the tumor suppressor gene <em>TP53 (p53)</em><em>, </em>but has variable and incomplete penetrance, suggesting additional acquired somatic mutations are necessary for tumorigenesis. In contrast, LFSL has no known cause, although a 10-Mb …
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Identifikation von Mutationen im Tumorsuppressorgen p53 und des Bakteriums Helicobacter pylori in Magenkarzinomen histopathologischer Präparate aus verschiedenen medizinhistorischen Sammlungen
… zu rezenten gibt. Als typisches Zielgen für Tumormutationen wurde das Tumorsuppressorgen p53 untersucht. Au¬ßerdem wurde Helicobacter pylori (H. pylori) als Risikofaktor für die Entstehung von Magenkarzinomen in den historischen Proben identifiziert. Insgesamt standen 51 Gewebeproben von …
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Investigation into the molecular mechanisms underlying circadian rhythm disruption and human cancer
… promoting p53 stability. Critically, one p53 mutation, Y220C (YC), is a hotspot in cancer and uniquely lies at the binding site of PER2 within p53, distant from the interface binding to DNA. We hypothesized that an altered interaction between PER2 and p53YC results in less available PER2 and …
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Accurate Mutation Annotation and Functional Prediction Enhance The Applicability of -Omics Data In Precision Medicine
… data sources, and is crucial for precise mutation biomarker identification and functional prediction; 3) It improves “forward annotation” (i.e., translation of genomic variants to protein variants) over existing annotators by more rigorously implementing the Human Genome Variation Society …
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Quantitative dynamics of T-cell receptor repertoires and their use for cancer patient stratification
… use for patient stratification based on their mutational status for the hotspot mutation IDH1 R132H in glioma. First, in Chapter 2 we deeply characterised the statistical properties of data generated from TCR repertoire sequencing, in order to understand the source and amount of expected …
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Genetic basis of inherited kidney and related tumours
… phenotype. This variant occurs as a somatic hotspot mutation in RCC and disrupts pVHL-ELOC interaction mimicking the effects of pVHL inactivation on expression of hypoxia response elements. *ELOC* functions as a tumour suppressor gene and chromosome 8 deletion was demonstrated in the RCC …