Sökning: "allelic"

Visar resultat 26 - 30 av 186 avhandlingar innehållade ordet allelic.

  1. 26. Genetic and cellular studies of familial hemophagocytic lymphohistiocytosis

    Författare :Eva Rudd; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Familial hemophagocytic lymphohistiocytosis; PRF1; STX11; UNC13D; degranulation; genotype; phenotype;

    Sammanfattning : Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive and genetically heterogeneous disorder of immune dysregulation with an incidence of 1/50000 live births that is inevitably fatal without appropriate treatment. The disease is characterized by fever, hepatosplenomegaly, cytopenias, hyperferritinemia, hypertriglyceridemia, hypofibrinogenemia and, sometimes, hemophagocytosis in bone marrow and/or other organs such as liver, spleen or lymph nodes. LÄS MER

  3. 27. Genetic susceptibility to psoriasis in Sweden

    Författare :Fredrik Enlund; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; CD80; CD86; joint complaints; linkage analysis; NPL; psoriasis; TDT; chromosome region 3q21;

    Sammanfattning : A common skin disease affecting about 2-3% of the population, psoriasis has an inheritance pattern that is unclear, but most probably many genes are involved in its pathogenesis. Other studies have suggested many susceptibility regions in the genome, but as yet independent studies have replicated only some of these regions located on chromosome 1q, 6p and 17q. LÄS MER

  4. 28. Reproductive Biology and Population Genetics of Common Ash (Fraxinus excelsior L.)

    Författare :Grazyna Bochenek; Göteborgs universitet; []
    Nyckelord :Fraxinus excelsior; delayed fertilization; functional dioecy; gender-related grow difference; inbreeding; tree-rings; non random mating; wind-pollination;

    Sammanfattning : Common Ash, Fraxinus excelsior L. (Oleaceae) is a wind-pollinated, wind-dispersed, deciduous tree, commonly occurring throughout Central and Northern Europe. The thesis addresses several questions concerning reproductive biology and factors influencing the genetic richness of ash stands. LÄS MER

  5. 29. Definition of immunoglobulin germline genes by next generation sequencing for studies of antigen-specific B cell responses

    Författare :Néstor Vázquez Bernat; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Immunoglobulins play a critical role in the adaptive immune system, existing as cell surface-expressed B cell receptors and secreted antibodies. Circulating antibodies are the main correlate of protective immunity for most vaccines. LÄS MER

  7. 30. 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