Sökning: "molekylär medicin genetik och patologi"
Visar resultat 11 - 15 av 52 avhandlingar innehållade orden molekylär medicin genetik och patologi.
11. Quantitative analysis of disease associated mutations and sequence variants
Sammanfattning : A solid-phase sequencing technique was applied to quantify the mitochondrial A3243G mutation in three families with maternally inherited diabetes and deafness. A correlation between the level of heteroplasmy and age at onset was found. LÄS MER
12. Genetic and Genomic Analysis of DNA Sequence Variation
Sammanfattning : The studies in this thesis describe the application of genotyping and allele specific expression analysis to genetic studies. The role of the gene NPC1 in Triglyceride metabolism was explored in mouse models and in humans on the population level in study I. LÄS MER
13. Genetic Analyses of Multiple Sclerosis and Systemic Lupus Erythematosus : From Single Markers to Genome-Wide Data
Sammanfattning : In autoimmune diseases an individual’s immune system becomes targeted at the body’s own healthy cells. The aim of this thesis was to identify genetic risk factors for the two autoimmune diseases multiple sclerosis (MS) and systemic lupus erythematosus (SLE). LÄS MER
14. Molecular Regulation of Inflammation and Angiogenesis in the Tumor Microenvironment
Sammanfattning : Tumor growth and progression not only depend on properties of the malignant cells but are strongly influenced by the tumor microenvironment. The tumor stroma consists of various cell types such as inflammatory cells, endothelial cells and fibroblasts, which can either inhibit or promote tumor growth. LÄS MER
15. Ligation-mediated Molecular Analysis of Influenza Subtypes, Splicing and Protein Glycosylation
Sammanfattning : Binder-based assays are employed throughout the life sciences. Powerful signal amplification techniques have enabled detection of very rare molecule species diluted in simple buffers. Unspecific binding of primary binders leads to increased background in more complex samples. LÄS MER