Search for dissertations about: "splice-junction analysis"

Found 4 swedish dissertations containing the words splice-junction analysis.

  2. 1. Glycerol kinase deficiency. Clinical, biochemical, and genetic aspects

    Author : Christina Hellerud; Göteborgs universitet; []
    Keywords : contiguous gene syndrome; diagnose; exercise; fasting; glucose deficit; glycerol; glycerol kinase deficiency; metabolism; molecular modelling; mRNA analysis; mutation; natural history; prognosis; splice-junction analysis; treatment; triglycerides;

    Abstract : Glycerol kinase deficiency (GKD, MIM 307030) is an X-linked recessive inborn error of metabolism occurring isolated or in an Xp contiguous gene syndrome with adrenal hypoplasia and/or Duchenne muscular dystrophy. The gene syndrome is due to deletions in the p21 region on the X chromosome. READ MORE

  4. 2. Genome-wide Characterization of RNA Expression and Processing

    Author : Ammar Zaghlool; Lars Feuk; Rickard Sandberg; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RNA sequencing; RNA splicing; RNA processing; Gene expression; Molekylär genetik; Molecular Genetics;

    Abstract : The production of fully mature protein-coding transcripts is an intricate process that involves numerous regulation steps. The complexity of these steps provides the means for multilayered control of gene expression. READ MORE

  5. 3. Familial hypercholesterolemia in Sweden : genetic and metabolic studies

    Author : Suzanne Lind; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Familial hypercholesterolemia; LDL receptor gene mutations; LDL cholesterol; bile acids; autosomal recessive hypercholesterolemia; growth hormone; LDL clearance.;

    Abstract : Familial hypercholesterolemia (FH) is inherited as an autosomal codominant disease, usually caused by mutations in the LDL receptor (LDLR) gene. Heterozygous FH is a common disease with a prevalence of about 1/500 in most populations. Clinically, FH is characterized by elevated LDL cholesterol, tendon xanthomas and premature atherosclerosis. READ MORE

  6. 4. Genetic and functional studies of MTTP and PLIN2 in relation to metabolic and cardiac dysfunction

    Author : Anna Aminoff; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Lipids including triglycerides, cholesterol, cholesterol esters and fatty acids are important sources for energy production, act as building blocks for intracellular compartments, are involved in numerous biological pathways and may act as signal molecules. Lipids are transported in blood as lipoproteins between organs, where they are immediately used in cellular processes or stored as cytosolic lipid droplets. READ MORE