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Visar resultat 6 - 10 av 16 avhandlingar som matchar ovanstående sökkriterier.

  1. 6. Genes predisposing to type 2 diabetes and cardiovascular mortality

    Författare :Jenny Fredriksson; diabetes och endokrinologi Genomik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; APOE; APM1; PPARG; PPARGC1A; survival abalysis; Medicin människa och djur ; Medicine human and vertebrates ; Type 2 Diabetes; cardiovascular mortality; glycogen synthase; adiponectin; GYS1;

    Sammanfattning : Cardiovascular complications are frequent in type 2 diabetes (T2D) and cardiovascular death is the most common cause of death for these individuals. A region on chromosome 19 (19q13) has been indicated by several genome scans as a susceptibility locus for T2D or components of the metabolic syndrome (MetS). LÄS MER

  2. 7. Gene expression profiles at the myotonic dystrophy 1 locus : possible role in disease mechanisms

    Författare :Maria Eriksson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Myotonic dystrophy 1 (DM1) is the commonest adult onset muscular dystrophy, (prevalence 1/8000). The disorder is characterized by anticipation (earlier onset in successive generations, which is accompanied in this disorder by an increase in severity of symptoms) and variable multisystemic symptom presentation. LÄS MER

  3. 8. Hormone-sensitive lipase: Molecular analyses of the human gene; structural and evolutionary aspects on expression, alternative splicing and cold adaptation

    Författare :Henrik Laurell; Institutionen för experimentell medicinsk vetenskap; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; enzymologi; Proteiner; Proteins; enzymology;

    Sammanfattning : Hormone-sensitive lipase (HSL) is a key enzyme in adipose tissue that hydrolyses stored fat (triacylglycerol). The activity of HSL is under strict hormonal and neural control. LÄS MER

  4. 9. Genetic analyses of multiple myeloma and related plasma cell dyscrasias

    Författare :Therese Nilsson; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetik; cytogenetik; cytogenetics; Genetics; FISH; cytogenetic; multiple myeloma; MGUS;

    Sammanfattning : Acquired genetic changes have proved to be of diagnostic and prognostic importance in different hematologic malignancies as well as in some solid tumor types. However, although multiple myeloma (MM), an incurable disease, and its proceeding stage monoclonal gammopathy of undetermined significance (MGUS) are quite common, little is known about the karyotypic features of these plasma cell dyscrasias. LÄS MER

  5. 10. Hypoxia inducible factor 1alpha : molecular mechanisms of regulation

    Författare :William J Wilson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Hypoxia-Inducible Factor 1alpha (HIF-1alpha) is an important protein in the homeostatic control of genes in response to low oxygen, or hypoxia. It is thus also a key factor in the regulation of angiogenesis in response to hypoxia, including induction of vascular endothelial growth factor (VEGF) gene expression. LÄS MER