Search for dissertations about: "mutation"

Showing result 16 - 20 of 1253 swedish dissertations containing the word mutation.

2. 16. RAS-MAPK syndromes - a Clinical and Molecular Investigation

   Author : Anna-Maja Nyström; Marie-Louise Bondeson; Göran Annerén; Anna Wedell; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RAS-MAPK syndromes; Noonan syndrome; Neurofibromatosis type I; cardio-facio-cutaneous syndrome; mutation; multiplex ligation-dependent probe amplification; gene; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Klinisk genetik; Clinical Genetics;

   Abstract : The RAS-MAPK syndromes are a group of clinically and genetically related disorders, characterized by cardiac defects, facial dysmorphism, cutaneous abnormalities and neurocognitive impairment. The pathogenesis is dysregulation of the RAS-MAPK pathway, and several genes within the pathway are involved. READ MORE

4. 17. 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

5. 18. Mutations and Mutation Rate in the Development of Fluoroquinolone Resistance

   Author : Patricia Komp Lindgren; Diarmaid Hughes; Fernando Baquero; Uppsala universitet; []
   Keywords : Microbiology; Mutation rate; Fluoroquinolone; Resistance; Biological fitness; Urinary tract infection; Escherichia coli; MPC; Mikrobiologi;

   Abstract : The emergence of multidrug resistant bacteria world wide is a serious problem, and very few new drugs are under development. The selection of resistant bacteria is affected by factors such as mutation rate, biological fitness cost and the rate of fitness compensation. READ MORE

6. 19. Wnt/β-Catenin Signalling in Parathyroid Tumours

   Author : Peyman Björklund; Gunnar Westin; Göran Åkerström; Tommy Andersson; Uppsala universitet; []
   Keywords : Surgery; Hyperparathyroidism; β-catenin; Mutation; Human parathyroid cell line; LRP5; Alternative splicing; Kirurgi;

   Abstract : Primary hyperparathyroidism (pHPT) due to parathyroid tumours with hypersecretion of parathyroid hormone and hypercalcaemia is a common disease with incompletely understood etiology affecting more than 1 % of the population, primarily postmenopausal women. In secondary hyperparathyroidism (sHPT), parathyroid tumours develop in response to calcium and vitamin D deficiency generally in patients with uraemia. READ MORE

7. 20. 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