Search for dissertations about: "point mutation"

Showing result 21 - 25 of 163 swedish dissertations containing the words point mutation.

  2. 21. Molecular mechanisms of fluoroquinolone resistance in Pseudomonas aeruginosa

    Author : Shah Jalal; Karolinska Institutet; Karolinska Institutet; []
    Keywords : quinolone resistance; P. aeruginosa; PCR; DNA sequencing; mutation; NIRCA; RESA; multidrug efflux; cystic fibrosis;

    Abstract : Pseudomonas aeruginosa is an opportunistic nosocomial pathogen. In compromised human, it can cause infections in urinary tract, wound and respiratory tract such as pneumonia and progressive lung diseases. READ MORE

  4. 22. Molecular mechanisms of tumor development in hyperparathyroidism

    Author : Filip Farnebo; Karolinska Institutet; Karolinska Institutet; []
    Keywords : parathyroid; hyperparathyroidism; MEN 1; FIHP; loss of heterozygosity; comparative genomic hybridization; mutation analysis; in situ hybridization;

    Abstract : Loss of heterozygosity (LOH) analysis and comparative genomic hybridization (CGH) were used in an attempt to identify recurrent chromosomal alterations in different types of parathyroid tumors. These included familial and sporadic, benign and malignant, as well as primary, irradiation associated and secondary tumors. READ MORE

  5. 23. Rational redesign of Candida antarctica lipase B

    Author : Anders Magnusson; Karl Hult; Bernhard Hauer; KTH; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Biochemistry; Candida antarctica lipase B; rational redesign; secondary alcohols; substrate-assisted catalysis; S-selective; entropy; aldolase; stereospecificity pocket; oxyanion hole.; Biokemi; Biochemistry; Biokemi;

    Abstract : This thesis describes the use of rational redesign to modify the properties of the enzyme Candida antarctica lipase B. Through carefully selected single-point mutations, we were able to introduce substrate-assisted catalysis and to alter the reaction specificity. READ MORE

  6. 24. Cellular and Molecular Mechanisms Underlying Congenital Myopathy-related Weakness

    Author : Johan Lindqvist; Julien Ochala; Anders Arner; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; skeletal muscle; skeletal muscle contraction; atrophy; nemaline myopathy; myofibrillar myopathy; myosin; actin;

    Abstract : Congenital myopathies are a rare and heterogeneous group of diseases. They are primarily characterised by skeletal muscle weakness and disease-specific pathological features. They harshly limit ordinary life and in severe cases, these myopathies are associated with early death of the affected individuals. READ MORE

  7. 25. On keratin mutations in epidermolytic hyperkeratosis and the regulation of keratin expression by retinoids

    Author : Marie Virtanen; Uppsala universitet; []
    Keywords : Medical sciences; EHK; keratin; retinoids; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Dermatology and Venerology; dermatologi och venereologi;

    Abstract : Epidermolytic hyperkeratosis is a rare inherited disease of the skin caused by a dominant-negative mutation in keratin 1 (K1) or 10 (K10). Keratins are the major structural protein in epidermis and mutations causes instability of intermediate filament and keratinocyte fragility. READ MORE