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 20 of 110 for “"genetic alterations"”.
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Genetic Alterations in Advanced Head and Neck Cancer
Genetic alterations of the PTEN gene located on chromosome 10q23 have been found in different neoplasms. In squamous cell carcinoma of the head and neck (SCCHN) loss of heterozygosity (LOH) at 10q has been described to be associated with poor prognosis. Moreover, genetic instability of …
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Genetic Alterations Associated with Attention Deficit Hyperactivity Disorder
… may lead to long term developmental cognitive alterations. Previous literature has identified ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3 (ST3GAL3) as a possible genetic component underlying ADHD. This study uses Loop Mediated Isothermal Amplification (LAMP) to amplify the wild type of …
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Genetic alterations defining human primary melanoma and mechanisms of immune evasion
… have focused on advanced disease. Thus, somatic alterations that influence the behaviour of early-stage tumours have not been fully explored. Consequently, in this thesis I study a collection of 524 primary melanomas on which extensive clinical data have been collected for almost two decades. I …
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The role of genetic alterations in the gut-joint axis of Crohn's disease and Spondyloarthropathies
… CD and SpA, we demonstrate in this work a genetic connection between these two disorders. Carriership of CD-related CARD15 polymorphisms in SpA patients is associated with the presence of chonic gut inflammation, similar to CD. Whether these genetic variants in CD and SpA play a direct role …
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Mechanism of resistance to tyrosine kinase inhibitors in philadelphia-positive acute lymphblastic leukaemia (all): from genetic alterations to impaired RNA editing
The Ph chromosome is the most frequent cytogenetic aberration associated with adult ALL and it represents the single most significant adverse prognostic marker. Despite imatinib has led to significant improvements in the treatment of patients with Ph+ ALL, in the majority of cases resistance …
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Investigation of Genetic Alterations In Emt Suppressor, Dear1, Through Pan-Cancer Analysis and Ultra-Deep Targeted Sequencing In Ductal Carcinoma In Situ
<p>Ductal carcinoma in situ<strong> (</strong>DCIS) is thought to be one of the earliest pre-invasive form of and non-obligate precursor to invasive ductal carcinoma (IDC). There is an urgent need to identify predictive and prognostic biomarkers for breast cancers with a heightened risk of …
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The relationship between BRAF genetic alterations and the risk of tumour recurrence in Pilocytic Astrocytomas in children diagnosed at Red Cross Children's Hospital over a 33-year period
… prognostic factors. Essentially all PAs harbour genetic aberrations resulting in the deregulation of the MAPK signalling pathway, with BRAF gene mutations being the most frequent. 4 However, reports on the impact of specific mutations on patient prognosis are controversial. 5–8 Advances in …
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Combination of CT-based Radiomics Features and Clinical Data for Predicting Tumor Genetic Profile in patients with Intrahepatic Cholangiocarcinoma
… cancer with increasing incidence, and its genetic alterations may serve as potential targets for systemic therapies. Objective: This study aims to determine whether radiomic features extracted from contrast-enhanced CT scans can predict iCCA genetic alterations non-invasively. Methods: …
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Deconvolute Brain Tumor Genomic Alterations Based On Dna Methylation
… gliomas. However, the association between epigenetic signature and genetic alterations is poorly understood. For example, mutation of isocitrate dehydrogenase (<em>IDH</em>) is associated with genome-wide hypermethylation of CpG islands in gliomas. But other subtype-associated alterations, …
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Investigation of de-novo copy number variants in patients with Autism Spectrum Disorder in Vietnam
… restricted interests and repetitive behaviours. Genetic alterations contributing to increasing risk of ASD have been reported. Early genetic screening, especially for families with a positive ASD history, could aid the early diagnosis and potentially more effective disease management strategies. …
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Determining therapeutically actionable genetic interactions in human cancer at scale using multiplexed CRISPR screening
… mutual exclusivity and co-occurrence analysis of genetic alterations across thousands of sequenced cancer genomes (Chapter 2), while the second utilised a machine-learning classifier to predict SL among paralog pairs, prioritising those with clinical relevance and therapeutic tractability (Chapter …
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Genetic dissection of EGFRvIII brain and spinal mouse gliomas through whole-exome sequencing and in vivo piggyBac mutagenesis forward genetic screening
… significant morbidity in children; however the genetics of these spinal gliomas is poorly understood. EGFRvIII is a common driver mutation in brain gliomas; it is unclear when this is acquired during glioma evolution and what its cooperative genetic drivers are. Here, we show that EGFRvIII …
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Human Immunodeficiency Virus/Human Papillomavirus co-infection and host molecular genetics of cervical carcinoma
… proposition with consideration of host molecular genetic alterations and variations of the human leukocyte antigen class II (HLA II) genes as one of the groups of immune-response genes that are involved in directing CD4 T-cell responses during infection, in the instance of cervical cancer …
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The Mechanism of Tumorigenesis In The Immortalized Human Pancreatic Cell Lines: Cell Culture Models of Human Pancreatic Cancer
… most lethal cancer in the world. The most common genetic lesions identified in PDAC include activation of K-ras (90%) and Her2 (70%), loss of p16 (95%) and p14 (40%), inactivation p53 (50-75%) and Smad4 (55%). However, the role of these signature gene alterations in PDAC is still not well …
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Establishment of new human and mouse liver cancer models and their use to uncover the role of RNF43 and ZNRF3 in liver homeostasis and repair
… recapitulate the original tumour histology and genetic alterations and are also able to generate tumours in an in vivo xenograft mouse model after long-term expansion. Furthermore, we have shown that tumoroids can also be successfully used for drug testing, suggesting their use to devise new …
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Whole genome doubling confers unique genetic vulnerabilities on tumor cells
Whole genome doubling (WGD) generates genetically unstable tetraploid cells that fuel tumorigenesis. Cells that undergo WGD must acquire adaptive characteristics to accommodate their tetraploid state, and these adaptations may confer unique vulnerabilities that can be exploited therapeutically. We …
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Knowledge-Informed Weakly-Supervised Deep Learning Models for Cancer Applications
… enable dense spatial prediction of gene modules, genetic alterations, and segmentation of heterogeneous tumors with vague boundaries, even under sparse supervision. Across applications in glioblastoma and liver cancer, the methods demonstrate substantial improvements in generalizability and …
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An Assessment of Universal Tumour Associated Antigens in Primary Liver Neoplasms
… In this research I have assessed the presence of genetic alterations, attempted to quantify the transcriptome, and measured protein expression in patients with liver cancer using a digital pathology platform. Telomerase and Survivin, the two targets of these endeavours, have previously been shown …
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Investigating the Role of ZNF384 Rearrangements in Acute Leukemia
… most often, transcription factors or epigenetic modifiers. It has been shown that ZNF384-rearranged tumors have a distinct gene expression profile that is consistent between disease groups and N terminal partners. Genomic analyses of patient tumors has shown that ZNF384 fusions arise in …
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Screening and Functional Study of the Genes inducing Malignant Degeneration of Neurofibromatosis Type 1
… in malignant cells. To confirm the existence of genetic alterations in NF1 tumor cells, we carried out CGH(comparative genomic hybridization) array in NF1 cells, but no genetic alterations have been found in the NF1 cells. We have cloned and sequenced 20 DEGs that showed clear differences in …
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