Sökning: "promoter polymorphisms"

Visar resultat 16 - 20 av 81 avhandlingar innehållade orden promoter polymorphisms.

  1. 16. Genetic variation and regulation of oxidative stress related genes

    Författare :Lena Forsberg; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Oxidative stress, is a state that has been implicated in the pathogenesis of a variety of human diseases, including atherosclerosis, inflammation, neurodegenerative disease and cancer. In an effort to determine the importance of oxidative stress in disease etiology, by a genetic approach, we have, studied individual variation and regulation of oxidative stress related genes including also basal characterization. LÄS MER

  3. 17. The Relation between Serotonergic Biomarkers and Behaviour : – studies on human primates, non-human primates and transgenic mice

    Författare :Hanna-Linn Wargelius; Dan Larhammar; Lars Oreland; Claudia Fahlke; Elias Eriksson; Uppsala universitet; []
    Nyckelord :Serotonin; MAO-A; 5-HTT; MAO-B; alcohol; ADHD; MEDICINE; MEDICIN; Medicin; Medicine; Neuroscience; Neurovetenskap;

    Sammanfattning : Rationale: The serotonergic system is involved in the modulation of emotion and plays an important role for personality and vulnerability for psychiatric disorders. In the papers included in this thesis, we investigate three biological factors that have been studied in relation to psychiatric symptoms: Platelet monoamine oxidase B (MAO-B) activity, and variations in the MAO-A and the serotonin transporter (5HTT) genes. LÄS MER

  4. 18. High-resolution Studies of mRNA Expression in Brain : A Search for Genes Differently Expressed in Schizophrenia

    Författare :Anja Castensson; Elena Jazin; Terence Speed; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; mRNA; gene expression; real-time RT-PCR; schizophrenia; 5-HT serotonin receptor 2C; brain; psychiatric genetics; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : Gene expression differences between patients and controls can be used to find susceptibility genes and drug targets for a disease. High-resolution strategies are required because the differences between the investigated groups may be small and numerous factors may affect the mRNA quantity. LÄS MER

  5. 19. Studies on the mechanism of regulation of bile acid synthesis in humans with some aspects on genetic factors

    Författare :Anna Abrahamsson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Bile acid synthesis; CYP7A1; CYP8B1; nuclear factors; primary human hepatocytes; regulation; polymorphism;

    Sammanfattning : In the present investigation we studied human bile acid synthesis and its regulation both in vivo and in vitro and also evaluated a possible influence of polymorphisms in the CYP7A1 and CYP8B1 genes on bile acid synthesis in vivo. The following observations were made: · Primary human hepatocytes cultured on matrigel under serum-free conditions produced bile acids consistent with the pattern in vivo, i. LÄS MER

  7. 20. CYP2C19 and CYP2C9 : new aspects of pharmacogenetics and transcriptional regulation

    Författare :Jessica Mwinyi; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Cytochrome P450s (CYPs) are responsible for approximately 75% of the phase I-dependent drug metabolism. Several important polymorphisms in these enzymes are known to significantly affect the individual drug response. LÄS MER