Sökning: "Mutation"

Visar resultat 6 - 10 av 1258 avhandlingar innehållade ordet Mutation.

1. 6. Pathogenic Mechanisms of the Arctic Alzheimer Mutation

   Författare :Charlotte Sahlin; Lars Lannfelt; Lars Nilsson; Christian Haass; Uppsala universitet; []
   Nyckelord :Neurosciences; Alzheimer s disease; Arctic mutation; Amyloid precursor protein; Amyloid-β; APP processing; Aβ oligomers; Docosahexaenoic acid; Neurovetenskap;

   Sammanfattning : Alzheimer’s disease (AD) is a progressive neurodegenerative disorder, neuropathologically characterized by neurofibrillay tangles and deposition of amyloid-β (Aβ) peptides. Several mutations in the gene for amyloid precursor protein (APP) cause familial AD and affect APP processing leading to increased levels of Aβ42. LÄS MER

3. 7. Mutation Analysis and Hypercholesterolemia: Studies in FH patients and in healthy middle-aged men with high, low, or increasing cholesterol levels during a six-year follow-up (the CRISS study)

   Författare :Ulf Ekström; Avdelningen för klinisk kemi och farmakologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Klinisk kemi; Clinical chemistry; LDL receptor; Mutation; risk factor; FH; familial hypercholesterolemia;

   Sammanfattning : Our aims were to characterize familial hypercholesterolemia (FH) in a Swedish FH population and to further elucidate the clinical expression and treatment response in relation to genotype. Secondly, we wanted to identify gene variants, which may have impact on cholesterol levels in apparently healthy subjects. LÄS MER

4. 8. A Mutation-based Framework for Automated Testing of Timeliness

   Författare :Robert Nilsson; Sten F. Andler; Michael G. Hinchey; Linköpings universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Automated Testing; Timeliness; Real-time systems; Time constraints; Model-based; Mutation testing; Computer science; Datalogi;

   Sammanfattning : A problem when testing timeliness of event-triggered real-time systems is that response times depend on the execution order of concurrent tasks. Conventional testing methods ignore task interleaving and timing and thus do not help determine which execution orders need to be exercised to gain confidence in temporal correctness. LÄS MER

5. 9. Biosensor technology applied to hybridization analysis and mutation detection

   Författare :Peter Nilsson; KTH; []
   Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; biosensor; genosensor; surface plasmon resonance; hybridization; nucleic acids; oligonucleotide; mutation detection; mismatch discrimination; modular; Bioengineering; Bioteknik;

   Sammanfattning : This thesis demonstrates the application of biosensor technology for molecular biology investigations, utilizing a surface plasmon resonance based optical device for mass sensitive detection of biomolecular interactions at a chipsurface. Oligonucleotide model systems were designed for analysis of the action of DNA manipulating enzymes. LÄS MER

7. 10. Molecular Genetic Alterations In Endometrial And Ovarian Cancers

   Författare :Anjila Koul; Bröstcancer-genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; KRAS; PTEN; TP53; Overexpression; Mutation; Microsatellite instability; Complex atypical hyperplasia; Endometrial cancer; Ovarian cancer; cancer; onkologi; Cytologi; cancerology; oncology; Cytology; CNS metastasis; Cytogenetic analysis; BRCA2; BRCA1; B-catenin; CDKN2A;

   Sammanfattning : Endometrial cancer is the most common gynecological cancer diagnosed in western countries. Complex atypical hyperplasia (CAH) reflects a state of hyperestrinism and its role as a precursor lesion of this cancer is established. LÄS MER