Sökning: "allele-specific expression"

Visar resultat 21 - 25 av 43 avhandlingar innehållade orden allele-specific expression.

  1. 21. Genetic predisposition for Multiple Myeloma. Identification and functional characterization of risk variants

    Författare :Laura Duran Lozano; Avdelningen för hematologi och transfusionsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; multiple myeloma; CRISPR Cas9; cancer genetics; functional characterization; Germline variants;

    Sammanfattning : Multiple myeloma (MM) is a blood malignancy originating from plasma cells. First-degree relatives of patients with MM have two- to four-fold higher risk of MM. However, the molecular basis remains largely unknown. This Ph. LÄS MER

  3. 22. Natural killer cell education under conditions of perturbed sensing of MHC : studies in MHC-I mosaic and chimaeric mice

    Författare :Sadia Salam; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Natural killer (NK) cells are innate lymphocytes that play a role in infections, tumours and transplantation. Their activating and inhibitory receptors sense cell surface ligands on potential target cells. LÄS MER

  4. 23. Regulation of TNF-alpha : implications for health and disease

    Författare :Tiina Skoog; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Adhesion molecules; adipocyte; atherosclerosis; DNase I HS site; EMSA; IMT; polymorphism; TNF-alpha;

    Sammanfattning : Tumor necrosis factor-alpha (TNF-alpha) is a proinflammatory cytokine, which is implicated in some metabolic disorders and may play a role in the development of cardiovascular disease. When healthy 50-year-old men were studied, the plasma TNF-alpha concentration was associated with systolic and diastolic blood pressure, degree of alimentary lipaemia, plasma VLDL triglyceride and LDL cholesterol concentrations, peak LDL particle size and all measured cell adhesion molecules. LÄS MER

  5. 24. Genetic, epigenetic and environmental factors of importance for CYP1A2 catalyzed drug metabolism

    Författare :Roza Ghotbi; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The heme containing cytochrome P450 (CYP450) enzymes participate in the phase I metabolism of drugs and other xenobiotics as well as endogenous substrates. CYP1A2 is one of the major CYP450 enzymes and account for about 13% of the total CYP450 content in the liver and is responsible for the metabolism of several clinically used drugs, e. LÄS MER

  7. 25. Matrix degrading proteases in vascular disease

    Författare :Sofia Jormsjö-Pettersson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Atherosclerosis; abdominal aortic aneurysm; MMP; cathepsin; polymorphism; in vitro; proteases; extracellular matrix.;

    Sammanfattning : Diverse processes of vascular disease including lesion growth, plaque rupture and abdominal aortic aneurysm formation are influenced by protease expression. Arteries undergo compensatory remodelling when the mechanical forces that are imposed on them are altered. LÄS MER