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Visar resultat 11 - 14 av 14 avhandlingar som matchar ovanstående sökkriterier.

  1. 11. Pharmaceutical insights into improving oligonucleotide delivery and efficacy

    Författare :Osama Saher; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The power of gene therapy lies in their capacity to target a disease on a genetic level. Nucleic acid containing therapeutics can be utilized to treat, diagnose or prevent a possible disease or condition. However, the successful delivery of such molecules constitutes a major limitation. LÄS MER

  2. 12. Hypothalamic and Metabolic Dysfunction in Genetic Models of Huntington’s Disease

    Författare :Rana Soylu Kucharz; Translationell neuroendokrinologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Huntington’s Disease; Huntingtin; Hypothalamus; Metabolism; Obesity; orexin; PVN; BAT; TH; neuroendocrinology;

    Sammanfattning : Huntington’s disease (HD) is caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) gene. HD is an inherited progressive neurodegenerative disorder manifested by the wide array of motor dysfunctions, as well as non-motor symptoms. LÄS MER

  3. 13. Mutation profile at the hprt locus in T-cells of non-smoking males

    Författare :Anne-May Österholm; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :human T-cells; hprt mutation; in vivo; deletion; splicing; base substitution;

    Sammanfattning : Extensive studies have been done on mutations in several marker genes in order to predict health consequences such as carcinogenesis. However, more information about mutations arising in vivo in somatic cells is needed to understand the relationship between the different factors involved in mutagenesis such as DNA damage, DNA repair capacity and individual susceptibility, and to elucidate the influence of endogenous mechanisms and environmental exposures. LÄS MER

  4. 14. Immunogenetic studies in autoimmune endocrine diseases

    Författare :Giovanni Gambelunghe; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Type I Diabetes; LADA; Addison s disease; HLA; MICA; MICB; autoantibodies;

    Sammanfattning : Type 1 diabetes mellitus (T1DM) is an autoimmune disease characterised by Tlymphocyte infiltration of islets of Langerhans with consequent destruction of beta cells. A permissive genetic background is required for the development of the islet autoimmune process. LÄS MER