Sökning: "allele-specific expression"

Visar resultat 16 - 20 av 43 avhandlingar innehållade orden allele-specific expression.

  1. 16. Epigenic regulation and posttranslational modification of human cytochrome P450s : focus on CYP2W1, CYP1A2 and CYP2C18

    Författare :Alvin V Gomez; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The cytochrome P450 superfamily represents a very important group of enzymes that are responsible for the metabolism of drugs as well as of endogenous compounds. Many P450s are genetically polymorphic causing important interindividual variability in P450 expression and activity whereas in some cases the basis for interindividual variation has still not been resolved. LÄS MER

  3. 17. Dissecting the complexity of human susceptibility to Plasmodium falciparum malaria: genetic approaches

    Författare :Valentina D Mangano; Marita Troye-Blomberg; Marta Alarcon; Stockholms universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; immunology; genetics; malaria; Immunology; Immunologi; immunologi; Immunology;

    Sammanfattning : There are many aspects of the immunology of P. falciparum infection that are not understood. Genetic approaches are of great value for dissecting the complexity of immune responses to malaria in natura by providing new insights into molecular interactions between the parasite and the host. LÄS MER

  4. 18. Functional genetics of the interleukin-4 receptors in allergic asthma

    Författare :Ann-Marie Bergin; Göteborgs universitet; []
    Nyckelord :Asthma; association study; candidate genes; IL4R; CIITA; alternative splicing; minigene;

    Sammanfattning : Asthma is a complex disorder, with both genetic and environmental factors contributing to disease development. Our aim was to analyse possible associations between genetic variations of immunologically important genes and the susceptibility to and severity of allergic asthma in adults. LÄS MER

  5. 19. Functional genomics approaches to dissect causal DNA variations in obesity and type 2 diabetes

    Författare :Mi Huang; Genetisk och molekylär epidemiologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; Obesity; Type 2 diabetes; CRISPR Cas9; precision medicine; adipocytes; functional genomics;

    Sammanfattning : GWAS studies have identified hundreds of loci that associate with obesity and type 2 diabetes. However, the functional relevance of the genetic variants, and their impact on disease or traits, is largely unknown. LÄS MER

  7. 20. On the role of genetic variation and epigenetics in hemostatic gene regulation

    Författare :Martina Olsson Lindvall; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hemostasis; Tissue-type plasminogen activator; Genetics; Epigenetics; DNA methylation;

    Sammanfattning : Many genetic variants have been identified to associate with circulating levels of hemostatic proteins and with thrombotic or hemorrhagic disorders. However, the underlying molecular mechanisms remain largely unknown. LÄS MER