Sökning: "genetik"
Visar resultat 1 - 5 av 1249 avhandlingar innehållade ordet genetik.
1. Dissecting the Genetic Basis of Systemic Lupus Erythematosus : The Pursuit of Functional Variants
Sammanfattning : Systemic lupus erythematosus (SLE) is a chronic and systemic autoimmune disease that primarily affects women during the childbearing years. SLE is characterized by the production of autoantibodies against nucleic acids and their interacting proteins. LÄS MER
2. Assessment of Novel Molecular Prognostic Markers in Chronic Lymphocytic Leukemia
Sammanfattning : The clinical course of chronic lymphocytic leukemia (CLL) is highly heterogeneous, which has prompted the search for biomarkers that can predict prognosis in this disease. The IGHV gene mutation status and certain genomic aberrations have been identified as reliable prognostic markers of clinical outcome for this disorder. LÄS MER
3. 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
4. Application of Genomic and Expression Arrays for Identification of new Cancer Genes
Sammanfattning : Copy number variation (CNV) comprises a recently discovered kind of variation involving deletion and duplication of DNA segments of variable size, ranging from a few hundred basepairs to several million. By altering gene dosage levels or disrupting proximal or distant regulatory elements CNVs create human diversity. LÄS MER
5. Functional organisation of the cell nucleus in the fission yeast, Schizosaccharomyces pombe
Sammanfattning : In eukaryotes the genome adopts a non-random spatial organisation, which is important for gene regulation. However, very little is known about the driving forces behind nuclear organisation. LÄS MER