Search for dissertations about: "missense mutation"

Showing result 1 - 5 of 84 swedish dissertations containing the words missense mutation.

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. Gastrointestinal stromal tumors. Pathogenetic mechanisms, phenotypic characterization and prognosis

   Author : Johanna Andersson; Göteborgs universitet; []
   Keywords : Gastrointestinal stromal tumor GIST ; neurofibromatosis type I NF1 ; mutation; prognosis; denaturating high performance liquid chromatography dHPLC ; sequencing; KIT; PDGFRA; NF1;

   Abstract : Gastrointestinal stromal tumor (GIST), the most common non-epithelial neoplasm of the gastrointestinal tract, has historically been problematic both conceptually and clinically. Recently, GIST has been shown to share phenotypic features with the interstitial cells of Cajal (ICC), including the almost uniform expression of the tyrosine kinase receptor KIT. READ MORE

5. 3. Mitotic Kinesin-Like Protein 1 (MKLP1/KIF23) in hereditary congenital dyserythropoietic anemia type III and in cancer

   Author : Ann-Louise Vikberg; Irina Golovleva; Monica Holmberg; Masanori Mishima; Pontus Aspenström; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Alternative splicing; Cell division; COPI; Congenital dyserythropoietic anemia; Cytokinesis; Gene expression; KIF23 protein human; Cancer; MKLP1 protein mouse; Mutation; medicinsk genetik; Medical Genetics;

   Abstract : A hereditary form of autosomal dominant congenital dyserythropoietic anaemiatype III (CDA III) has been reported in four families from Sweden, Argentina, Cuba and USA. CDA III patients might experience signs of mild anaemia and some of them need occasional blood transfusions. READ MORE

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

   Author : Gittan Kollberg; Göteborgs universitet; []
   Keywords : 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;

   Abstract : 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. READ MORE

7. 5. Investigation of Mechanics of Mutation and Selection by Comparative Sequencing

   Author : Michael C. Zody; Kerstin Lindblad-Toh; Leif Andersson; Chad Nusbaum; Henrik Kaessmann; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; chicken; chimpanzee; human; evolution; segmental duplication; structural variation; chromosomal rearrangement; comparative genomics; positive selection; selective sweep; Genetics; Genetik; Genetics; genetik;

   Abstract : The process of evolution is of both scientific and medical interest. This thesis presents several studies using complete genomic reference sequences, comparative genomic data, and intraspecific diversity data to study the two key processes of evolution: mutation and selection. READ MORE