Search for dissertations about: "Phenotyping"
Showing result 16 - 20 of 72 swedish dissertations containing the word Phenotyping.
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16. Pharmacogenetic analysis in sickness and in health - for better or for worse
Abstract : An individual's pharmacogenetic constitution may predict response to drugs, hormones and toxins, and might be a susceptibility factor for disease. Pharmacogenetic diversity is especially pronounced for drug metabolising enzymes. READ MORE
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17. Biochemical studies of carbohydrate blood group antigens - Carbohydrate phenotype in relation to cellular glycosyltranferases
Abstract : The possibility to alter the cell surface carbohydrate expression by insertion or deletion of glycosyltransferase genes is a powerful technique to study the biological function of selected carbohydrate antigens. However, shifting the equilibrium between competing glycosyltransferases might lead to unexpected phenotypic effects, such as accumulation of other carbohydrate antigens and exposure of antigen structures that normally are cryptic or present in minute amounts on the cell surface. READ MORE
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18. Multiomics strategy in clinical immunology aiding unsolved antibody deficiencies
Abstract : Clinical and immunological phenotyping of a cohort of consecutive dysgammaglobulinemic patients with unknown genetic defects underwent genomic (e.g. whole-exome sequencing) and other relative multiomics (e.g. READ MORE
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19. Mitochondrial dysfunction and the metabolism - studies on respiratory chain disorders
Abstract : Background: Mutations of the mitochondrial assembly factor BCS1L disrupt assembly and function of the respiratory chain complex III (CIII) and thereby result in energy deprivation. In GRACILE syndrome, the BCS1L mutation causes a liver disorder that leads to metabolic disturbances associated with severe growth restriction. READ MORE
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20. Expanding the genetic and phenotypic spectrum of skeletal dysplasias
Abstract : Skeletal dysplasias constitute a large and heterogeneous group of disorders, many causing disabilities with profound effects on the quality of life of the affected individuals and their families. Each individual skeletal dysplasia is rare, however, as more than 450 different disorders have been described, skeletal dysplasias as a group affect approximately three in 10 000 individuals. READ MORE