Sökning: "point mutation"

Visar resultat 1 - 5 av 163 avhandlingar innehållade orden point mutation.

  1. 1. Genotyping and Mutation Detection In Situ : Development and application of single-molecule techniques

    Författare :Ida Grundberg; Mats Nilsson; Ulf Landegren; Olli-Pekka Kallioniemi; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; padlock probes; in situ; rolling circle amplification; mRNA; genotyping; mutation detection; cancer; tissue sections; diagnostics; single-molecule; single-cell; microscopy; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Molekylär medicin; Molecular Medicine;

    Sammanfattning : The human body is composed of trillions of cells closely working together to maintain a functional organism. Every cell is unique in molecular composition and can acquire genetic variations that might cause it to turn pathological. LÄS MER

  3. 2. Padlock Probe-Based Nucleic Acid Amplification Tests : Point-of-care Diagnostics of Infectious Diseases

    Författare :Sibel Ciftci; Mats Nilsson; Jonas Klingström; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Nucleic Acid Amplification; Isothermal Amplification Methods; Padlock Probes; Rolling Circle Amplification; Molecular Diagnostics; Infectious Disease Diagnostics; Virus; Point-of-Care; Biochemistry; biokemi;

    Sammanfattning : Recent advancements in molecular biology and biotechnology have pushed the field of molecular diagnostics much further to benefit the society towards smart access for rapid and simplified health care. In this context, point-of-care (PoC) technologies that bring the inventions in diagnostics closer to bedside settings draw attention. LÄS MER

  4. 3. Crisis in Energy Metabolism - Mitochondrial Defects and a New Disease Entity

    Författare :Gittan Kollberg; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Energy metabolism; Mitochondrial Disorders; mtDNA; multiple mtDNA deletions; Alpers-Huttenlocher syndrome; POLG1; GYS1; glycogen synthase; point mutation; Polymerase gamma;

    Sammanfattning : Impairment of energy metabolism may be associated with severe implications for affected individuals since all fundamental cell functions are energy-dependent. Disorders of energy metabolism are often genetic and associated with defects in the oxidative phosphorylation in mitochondria. LÄS MER

  5. 4. 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

  7. 5. Approaches for analysis of mutations and genetic variations

    Författare :Afshin Ahmadian; KTH; []
    Nyckelord :LOH; microsatellite; fragment analysis; DNA sequencing; pyrosequencing; cancer; mutation; variation; SNP; allele-specific extension; apyrase; TECHNOLOGY; TEKNIKVETENSKAP;

    Sammanfattning : Detecting mutations and genomic variations is fundamental indiagnosis, isolating disease genes, association studies,functional genomics and pharmacogenomics. The objective hasbeen to use and further develop a variety of tools andtechnologies to analyze these genetic alterations andvariations. LÄS MER