Sökning: "mutation screening"

Visar resultat 11 - 15 av 145 avhandlingar innehållade orden mutation screening.

  1. 11. Molecular genetic studies on cystinuria

    Författare :Lotta Harnevik; Peter Söderkvist; Catharina Larsson; Linköpings universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amino acid transport systems; Amino acids diamino; Mutation; Sulphydryl compounds; urine; Cystine; Carrier proteins; Cystinuria; DNA mutational analysis; Dog diseases; genetic; Membrane glycoproteins; Medical genetics; Medicinsk genetik;

    Sammanfattning : Cystinuria is defined as an inherited disorder characterized by increased urinary excretion of cystine and the dibasic amino acids arginine, lysine and ornithine. The only clinical manifestation of cystinuria is renal cystine stone formation due to the low solubility of cystine in the urine. LÄS MER

  3. 12. Hydrolases as Catalysts for Green Chemistry and Industrial Applications - Esterase, Lipase and Phytase

    Författare :Yasser Gaber; Bioteknik; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; HPLC-EAT; sustainable environment; mutation; metallo-enzyme; phytate; b-propeller; biodegraqdable; metrics; green chemistry; Novozym 435; CalB; solvent-free; kinetic resolution; Biocatalysis; rational design; PLE; esterase; clopidogrel; enantioselectivity;

    Sammanfattning : The use of enzymes in industrial applications has been recognised for providing clean processes with minimal impact on the environment. This thesis presents studies on engineering of enzymes and enzyme-based processes in the light of green chemistry and environmental sustainability, and focuses on three hydrolases: esterase, lipase and phytase. LÄS MER

  4. 13. Hunting a Silent Killer. Biomolecular Approaches in Ovarian Cancer

    Författare :Nicolai Arildsen; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Ovarian cancer; Molecular biology; genetic variant; TP53 mutation; early detection; Drug Screening Assays; Antitumor; bioinformatics; next generation sequencing; NGS; prognostic and predictive biomarkers; ovarian clear cell cancer; high-grade serous ovarian cancer;

    Sammanfattning : Ovarian cancer is a heterogeneous disease and recent advances in improving patient outcome havebeen limited. It is estimated that a woman’s risk of developing ovarian cancer during her lifetime is about 1 in 70, making it a frequently occurring cancer type in women. LÄS MER

  5. 14. The Effects of Mutation and Selection on the Rate and Pattern of Molecular Evolution in Birds

    Författare :Sofia Berlin; Hans Ellegren; Adam Eyre-Walker; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; substitution rate; diversity; selection; male mutation bias; birds; Genetik; Genetics; Genetik;

    Sammanfattning : By comparing sequence diversity and divergence on sex chromosomes one can study how the rate of evolution in affected by mutation and/or selection. The rate of mutation in male biased, meaning that relatively more mutations are created in the male germ line than in the female. LÄS MER

  7. 15. Environmental factors and p53 mutation spectrum in lung cancer

    Författare :Anna Bessö; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Lung cancer; p53; radon; tobacco smoking; arsenic; environmental tobacco smoke; ETS; case-only study; case-control study;

    Sammanfattning : The use of molecular biomarkers, such as mutations in the p53 gene, has raised expectations for improving the resolution power in epidemiological studies. In this thesis we assessed the influence of smoking, environmental tobacco smoke (ETS), residential radon and arsenic on the p53 mutation prevalence and spectrum in lung tumors. LÄS MER