Search for dissertations about: "gene cloning"

Showing result 1 - 5 of 138 swedish dissertations containing the words gene cloning.

  1. 1. Hormone-Sensitive Lipase and the Pancreatic Beta-Cell

    Author : Håkan Lindvall; Institutionen för experimentell medicinsk vetenskap; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cytogenetik; cytogenetics; Genetik; Genetics; cloning; gene expression; lipase; insulin secretion; diabetes; lipotoxicity;

    Abstract : Hormone-sensitive lipase (HSL) is a key enzyme in fatty acid mobilization. It is acutely regulated by extracellular signals via reversible phosphorylation. In the recent past, the focus of type 2 diabetes research has moved towards the lipid component. READ MORE

  2. 2. Diamond-Blackfan anemia : Mapping and identification of the disease gene

    Author : Peter Gustavsson; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Diamond-Blackfan anemia; erythropoiesis; positional cloning; chromosome 19q13; ribosomal protein S19 gene; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Abstract : This thesis presents the positional cloning of the gene behind Diamond-Blackfan anemia. Evidence for the involvement of ribosomal protein (RP) S19 gene mutations in Diamond-Blackfan anemia is given. This is the first example of a human disease that is directly related to a ribosomal protein. READ MORE

  3. 3. Positional Cloning of Disease Causing Genes : A Genetic Study of Obesity, Ichthyosis Prematurity Syndrome and Meniere's Disease

    Author : Joakim Klar; Niklas Dahl; Catharina Larsson; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Positional cloning; Obesity; Ichthyosis; Meniere’s disease; RORa; PIK3C2G; Genetik; Clinical genetics; Klinisk genetik;

    Abstract : Positional cloning is a method to identify genes from their position in the genome without prior knowledge about function. We used this approach to investigate the basis for three distinct genetic disorders; Obesity, Ichthyosis Prematurity Syndrome and Meniere's disease. READ MORE

  4. 4. Molecular Cloning and Functional Characterization of Factors Involved in Post-transcriptional Gene Expression

    Author : Shao-Bo Jin; Lars Wieslander; Maria Carmo-Fonseca; Stockholms universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; gene expression; pre-mRNA processing; pre-rRNA processing; Molecular biology; Molekylärbiologi;

    Abstract : Gene expression in the eukaryotic cell is a fundamental cellular process, which consists of several distinct steps but extensively coupled to each other. From site of transcription in the nucleus to the cytoplasm, both mRNA and rRNA are associated with a proper set of proteins. READ MORE

  5. 5. An Alkaline Active Cyclodextrin Glycosyltransferase from an Alkaliphilic Bacillus agaradhaerens

    Author : Rita Martins; Bioteknik; []
    Keywords : TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; cloning; characterization; purification; 16S rRNA gene analysis; screening; alkaliphiles; soda lakes; Bacillus agaradhaerens; cyclodextrins; cyclodextrin glycosyltransferase; alpha-amylase family; sequencing; immobilization; Biotechnology; Bioteknik;

    Abstract : Soda lakes represent the most stable naturally-occurring alkaline environments on Earth and harbour a diverse population of alkaliphiles. Alkaliphilic microorganisms have attracted a great interest due to their ability to produce extracellular enzymes that are active and stable at high pH values. READ MORE