Sökning: "Mutation"

Visar resultat 16 - 20 av 1258 avhandlingar innehållade ordet Mutation.

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

   Författare :Anna-Maja Nyström; Marie-Louise Bondeson; Göran Annerén; Anna Wedell; Uppsala universitet; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

3. 17. 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

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

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

   Sammanfattning : 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. LÄS MER

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

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

   Sammanfattning : 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. LÄS MER

7. 20. Genetic variability of hepatitis B virus in chronic infection

   Författare :Charles Hannoun; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; hepatitis B virus; mutation; genotype; phylogeny; ; Recombination; coinfection; interferon; response;

   Sammanfattning : Chronic hepatitis B is a major health problem, and may lead to cirrhosis and hepatocellular carcinoma. The liver damage in hepatitis B virus (HBV) infection is considered to be a result of the immune response, and not a cytopathic effect of the virus itself. LÄS MER