Sökning: "Medicin och hälsovetenskap Medicinska grundvetenskaper Medicinsk genetik"
Visar resultat 6 - 10 av 312 avhandlingar innehållade orden Medicin och hälsovetenskap Medicinska grundvetenskaper Medicinsk genetik.
6. Genetic and Epigenetic Profiling of Mantle Cell Lymphoma and Chronic Lymphocytic Leukemia
Sammanfattning : Mantle cell lymphoma (MCL) and chronic lymphocytic leukemia (CLL) both belong to the group of mature B-cell malignancies. However, MCL is typically clinically aggressive while the clinical course of CLL varies. LÄS MER
7. Genetic Cartography at Massively Parallel Scale
Sammanfattning : Massively parallel sequencing (MPS) is revolutionizing genomics. In this work we use, refine, and develop new tools for the discipline.MPS has led to the discovery of multiple novel subtypes in Acute Lymphoblastic Leukemia (ALL). In Study I we screen for fusion genes in 134 pediatric ALL patients, including patients without an assigned subtype. LÄS MER
8. Lipoproteomics : Environmental and Genetic Factors Affecting High-Density Lipoprotein (HDL)
Sammanfattning : Lipoprotein particles act as lipid transporters in the blood stream, and measuring cholesterol content in specific subclasses of lipoprotein particles has long been, and still is, a frequently used tool to estimate the risk of cardiovascular disease (CVD). High-density lipoprotein (HDL) is a subclass of lipoproteins often regarded as providing protection against CVD via several functions including reverse cholesterol transport and anti-inflammatory capacities. LÄS MER
9. Familial amyloidosis with polyneuropathy : studies of genetic factors modifying the phenotype of the disease
Sammanfattning : Background. Familial Amyloidosis with Polyneuropathy (FAP) is an autosomal dominantly inherited systemic amyloid disease. The disease is caused by mutations in the transthyretin (TTR) gene, where close to 100 different amyloidogenic mutations have been identified. LÄS MER
10. Somatic Mutations in Breast Cancer Genomes : Discovery and Validation of Breast Cancer Genes
Sammanfattning : Breast cancer is the most common cancer in women worldwide. However, the genetic alterations that lead to breast cancer are not fully understood. This thesis aims to identify novel genes of potential mechanistic, diagnostic or therapeutic interest in breast cancers by mutational analysis and whole-genome sequencing. LÄS MER