Sökning: "chromosome 19"

Visar resultat 1 - 5 av 49 avhandlingar innehållade orden chromosome 19.

  1. 1. Engineering short-chain carboxylic-acid metabolism in the model microorganism Escherichia coli

    Författare :Gustav Sjöberg; Antonius J. A. van Maris; Solange Mussatto; KTH; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; metabolic engineering; R -3-hydroxybutyrate; volatile fatty acids; bioprocess design; Escherichia coli; bacterial artificial chromosome; Bioteknologi; Biotechnology;

    Sammanfattning : The ever-increasing concern about carbon dioxide emissions has created an urgent need to develop alternative methods to cheaply and renewably produce materials, chemicals and fuels. The biorefinery is uniquely suited to deliver these products from sustainable biomass. LÄS MER

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

    Författare :Marju Orho-Melander; diabetes och endokrinologi Genomik; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  4. 3. Molecular and functional studies of the BCR/ABL1 fusion gene

    Författare :Petra Johnels; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; extracellular fluids; Hematologi; Haematology; onkologi; Cytologi; cancerology; oncology; Cytology; gene expression profiling; acute lymphoblastic leukemia; chronic myeloid leukemia; Ph chromosome; BCR ABL; extracellulära vätskor; Clinical genetics; Klinisk genetik; cancer;

    Sammanfattning : The BCR/ABL1 fusion gene is associated with chronic myeloid leukemia and a subgroup of acute lymphoblastic leukemia. The general aim of this thesis was to increase the understanding of BCR/ABL1-induced leukemogenesis by molecular and functional studies of this fusion gene. LÄS MER

  5. 4. Chromosome aberrations and environmental exposures in acute leukemia

    Författare :Ragnhild Rosengren Lindquist; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Acute leukemia; chromosome 3; chromosome 8; fragile site; occupational exposure; mutagen exposure; case-control study; trisomy; benzene; organic solvent; petroleum; epidemiology; environmental carcinogens; painter; driver;

    Sammanfattning : The aims of this thesis are to evaluate the role of environmental exposures, especially professional exposure to organic solvents and petroleum products in the etiology of acute leukemia and to investigate if there is a correlation between the exposure to a specific leukemogen factor and a clonal chromosome aberration of the leukemic cells. Papers I and II present results of a case-control study of environmental exposures, in all occupations during life-time, medical treatments with medicines, chemotherapy and radiation, tobacco-use and the exposure to chemical compounds in private life in 120 patients with acute leukemia and of 120 controls, matched for age (+ 4 years), residence and sex. LÄS MER

  7. 5. Prenatal diagnosis of structural malformations and chromosome anomalies : Detection, influence of Body Mass Index and ways to improve screening

    Författare :Eric Hildebrand; Marie Blomberg; Tomas Gottvall; Jan Brynhildsen; Ove Axelsson; Linköpings universitet; []
    Nyckelord :;

    Sammanfattning : Introduction: Prenatal diagnosis of structural malformations and chromosome anomalies is possible in the presence of an effective screening with ultrasound during pregnancy. The continuous evolution of the ultrasound equipment facilitates the examination. LÄS MER