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 13 of 13 for “"Medical Genetics and Genomics (including Gene Therapy)"”.
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Molecular and functional studies of ABL1 and FGFR1 fusion oncogenes in myeloproliferative neoplasms
The tyrosine kinase encoding genes ABL1 and FGFR1 are involved in fusion genes underlying the myeloproliferative neoplasms chronic myeloid leukemia (CML) and the 8p11-myeloproliferative syndrome (EMS). CML and EMS are both myeloproliferative disorders with an initiating, relatively indolent, …
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EWSR1 and FUS fusion genes in tumorigenesis
… present thesis concerns the involvement of EWSR1 and FUS fusion genes, and the chimeric proteins they encode, in tumorigenesis. In Article I, the EWSR1 promoter, which regulates the expression of EWSR1 fusion genes, was characterized and regions that were crucial for promoter activity could be …
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Genetic Characterization of Pediatric T-cell Acute Lymphoblastic Leukemia
The aim of my thesis has been to characterize genetically pediatric T-cell acute lymphoblastic leukemia (T-ALL). Articles I and II focus on molecular characterization of translocations involving T-cell receptor (TCR) loci. These types of aberration are characteristic for T-ALL and have previously …
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Chromosome dynamics and genomic instablity in neuroblastoma. Three genomic pillars: MYCN amplification, numerical and structural changes.
… cancer neuroblastoma, one of the most common and lethal childhood tumours. Neuroblastoma has througout the years continued to be a clinical and biological enigma. Our first focus was on one of the most important biological risk factors in neuroblastoma -- amplification of the oncogene MYCN in …
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Identification, Validation and Implementation of Blastemal Biomarkers in Wilms Tumour
… cancer. Blastema is, together with epithelium and stroma, one of the three common histological elements of WT. WTs dominated by blastema after preoperative chemotherapy are classified as high risk tumours. According to the SIOP2001 protocol used in most European countries today, there is no …
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Functional Modeling of Genes Upregulated in Chronic Myeloid Leukemia
… hematopoietic cell by the BCR/ABL1 fusion gene that is formed through the chromosomal translocation t(9;22). CML is currently successfully treated with tyrosine kinase inhibitors targeting the ABL1 kinase domain. However, the CML stem cells are insensitive to this drug and a large fraction …
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IKAROS and LEUKEMIA
… of immature lymphoid cells in the bone marrow and is the most common cancer type in children. It is an immunophenotypically, morphologically, clinically, and genetically heterogeneous disorder that comprises several distinct subtypes. Proper classification is important because determining the …
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Trisomies in Hematologic Malignancies
… aberrations, closely associated with leukemogenesis, are found in many hematologic malignancies. Although the balanced rearrangements, such as translocations and inversions, are the ones most commonly thought of in the context of leukemias, gains of chromosomes ? e.g.., trisomies ? are also …
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Genomic characterization of ETV6/RUNX1-positive acute lymphoblastic leukemia
The t(12;21) translocation generates the ETV6/RUNX1 fusion gene, present in 25% of childhood acute lymphoblastic leukemia. This fusion gene is important for leukemia development but is not sufficient for leukemia to arise. Hence, the additional genetic changes present in leukemic …
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Mitochondrial and chromosomal genomics in type 2 diabetes
Understanding the mechanisms of complex polygenic diseases like type 2 diabetes (T2D) is as complex as their nature. Cellular processes involved in glucose homeostasis need high and reliable energy supply. Mitochondria are the major energy producers in mammalian cells. Since majority of the …
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Genetic and epigenetic characterization of pediatric high hyperdiploid acute lymphoblastic leukemia
The aim of this thesis was to analyze the genetic and epigenetic characteristics of pediatric high hyperdiploid acute lymphoblastic leukemia (HeH ALL), the most common type of childhood malignancy. The three original articles presented in this thesis have addressed three major questions regarding …
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Mechanisms and Consequences of Chromosomal Instability in Malignant tumours
… in established colorectal cancer cell lines and in Wilms tumour. In colorectal cancer cell lines, anaphase bridging was observed to generate both numerical and structural chromosomal aberrations and was also associated with the presence of multipolar mitoses. In contrast to cells having …
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MOLECULAR PROFILING OF UROTHELIAL CARCINOMA
The general aim of this thesis was to molecularly characterize urothelial carcinoma (UC) at the transcriptional level using gene expression microarrays to improve the classification and pathogenetic understanding of this disease. In the first two studies (Articles I and II), gene expression …