Search for dissertations about: "19q13.3"

Found 3 swedish dissertations containing the word 19q13.3.

  2. 1. Human glycogen synthase genes. Role in insulin resistance and hypoglycaemia

    Author : Marju Orho-Melander; diabetes och endokrinologi Genomik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mutation; GYS2; GYS1; glycogen synthase; glycogen; insulin resistance; hypoglycaemia; liver glycogen synthase deficiency; glycogen storage disease type 0; Type 2 diabetes; metabolic syndrome; expression; chromosome 19; 19q13.3; Endocrinology; secreting systems; diabetology; Endokrinologi; sekretion; diabetologi;

    Abstract : Effective insulin-stimulated storage of excess glucose after a meal, and its rapid mobilisation in the fasting state provide basis of glucose homeostasis. Glycogen is the macromolecular storage form of glucose and glycogen synthase (GS) is the rate-limiting enzyme in glycogen synthesis. Skeletal muscle and liver are the major depots of glycogen. READ MORE

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

    Author : Maria Eriksson; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : 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. READ MORE

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

    Author : William J Wilson; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : 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. READ MORE