Sökning: "Genotype"

Visar resultat 11 - 15 av 697 avhandlingar innehållade ordet Genotype.

  1. 11. The Monoamine Oxidase A Gene and Antisocial Outcomes : An Examination of Genetic, Epigenetic, and Environmental Factors

    Författare :David Checknita; Kent W. Nilsson; Lars Westberg; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Epigenetics; Antisocial; Genotype; Maltreatment;

    Sammanfattning : Background. Antisocial behaviour involves violation of the basic rights of others or social norms or rules. Such behaviours are indexed in diagnoses such as conduct disorder (CD) in adolescence and antisocial personality disorder (ASPD) in adulthood, which are typified by comorbidity with mood, anxiety, and substance misuse disorders. LÄS MER

  3. 12. Group B streptococci and other neonatal infections

    Författare :Elisabet Persson; Göteborgs universitet; []
    Nyckelord :Neonatal infections; sepsis; incidence; ; Group B streptococcus; ; serotype; ; epidemiology; ; genotype; ; surface protein; ; antibiotic susceptibility;

    Sammanfattning : The main objectives of this thesis were to estimate the incidence and etiology of invasive infections in neonates and to characterize invasive strains of group B streptococci from a defined geographic area. All infants aged 0-120 days with a bacterial or fungal isolate from blood or CSF in the defined area were identified. LÄS MER

  4. 13. Gastroduodenal epithelial transport in patients with cystic fibrosis

    Författare :Karin Edshage Hallberg; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Cystic fibrosis; CFTR; intestinal motility; gastric secretion; IgA; Ussing chamber; intestinal permeability; genotype;

    Sammanfattning : Cystic fibrosis (CF) is an inherited disease where respiratory failure due to chronic lung infection is the major cause of death. A defective protein, cystic fibrosis transmembrane conductance regulator (CFTR) alters chloride epithelial transport. LÄS MER

  5. 14. Towards Pharmacological Treatment of Cystic Fibrosis

    Författare :Charlotte Andersson; Aleksander Edelman; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Cell biology; cystic fibrosis; airway epithelium; genotype; CFTR; chloride transport; genistein; phenotype; phenylbutyrate; S-nitrosoglutathione; Cellbiologi; Cell biology; Cellbiologi; entomologi; Entomology;

    Sammanfattning : S-nitrosogluthatione is an endogenous substance, present at decreased levels in the lungs of CF patients and was recently found to induce mature CFTR in airway epithelial CF cell lines. We show that S-nitrosoglutathione in physiological concentrations increases the presence of ΔF508 CFTR in the cell membrane and induces cAMP dependent chloride transport in cystic fibrosis airway epithelial cells. LÄS MER

  7. 15. Clinical expressions of juvenile hereditary retinal degenerations and macular dystrophies: Electrophysiological and genetic studies

    Författare :Louise Eksandh; Lund Oftalmologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Oftalmologi; Ophtalmology; Rod-monochromacy; Stargardt disease; Juvenile X-linked retinoschisis; Spielmeyer-Vogt disease; Best disease; multifocal-ERG; EOG; full-field ERG; Phenotype; genotype;

    Sammanfattning : Hereditary retinal degenerations are the most frequent reason for severe visual handicap among young people in Scandinavia today. In the six papers included in this thesis the phenotypic expressions, with emphasis on the electrophysiological findings, of five different juvenile hereditary retinal degenerations are described. LÄS MER