Sökning: "disease genes"

Visar resultat 1 - 5 av 1534 avhandlingar innehållade orden disease genes.

  1. 1. Susceptibility genes in conformational diseases

    Författare :Malin von Otter; Göteborgs universitet; []
    Nyckelord :Conformational disease; Alzheimer’s disease; Parkinson’s disease; Cataract Protein aggregation; Cellular transport; Oxidative stress; Susceptibility; genes; SNP; Haplotype;

    Sammanfattning : Conformational diseases are characterized by protein misfolding and aggregation in the affected tissue. The aim of this thesis was to find genetic support for mechanisms in common for three prevalent ... LÄS MER

  3. 2. Positional Cloning of Disease Causing Genes : A Genetic Study of Obesity, Ichthyosis Prematurity Syndrome and Meniere's Disease

    Författare :Joakim Klar; Niklas Dahl; Catharina Larsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Positional cloning; Obesity; Ichthyosis; Meniere’s disease; RORa; PIK3C2G; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : Positional cloning is a method to identify genes from their position in the genome without prior knowledge about function. We used this approach to investigate the basis for three distinct genetic disorders; Obesity, Ichthyosis Prematurity Syndrome and Meniere's disease. LÄS MER

  4. 3. Marker genes : molecular tools for in situ monitoring of bacterial distribution and activity in environmental samples

    Författare :Annika Unge; Stockholms universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Biochemistry; Biokemi;

    Sammanfattning : Many different microorganisms carry out environmental functions, such as nutrient cycling, plant growth enhancement, or biodegradation. Some microorganisms also negatively affect their environment by causing disease. LÄS MER

  5. 4. Psoriatic arthritis: a complex disease : analyses on genetic and serological biomarkers and of comorbidity

    Författare :Kristina Juneblad; Gerd-Marie Alenius; Solbritt Rantapää-Dahlqvist; Lars-Erik Kristenssen; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Psoriatic Arthritis; genetics; inflammasomes; polymorphisms; biomarkers; disease expression; disease activity; cardiovascular diseases; mortality; epidemiology;

    Sammanfattning : Psoriatic Arthritis (PsA) is a heterogonous inflammatory arthritis associated with psoriasis. The disease leads to inflammation of peripheral joints, axial skeleton and/or enthesites, and can result in severe destruction of affected joints. LÄS MER

  7. 5. Serologic Markers in Screening for Coeliac Disease, Clinical significance and immunogenetic basis

    Författare :Klas Sjöberg; Gastroenterologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Gastro-enterology; transglutaminase; specificity; sensitivity; prevalence; HLA; liver disease; endomysial antibodies; gliadin antibodies; diabetes; Autoimmune disease; coeliac disease; Gastroenterologi;

    Sammanfattning : The prevalence of coeliac disease (CD) was initially estimated to 1/1537. Based on serial analysis [GA and endomysial antibodies (EMA)], the prevalence was 6/1970 (0.30%). In autoimmune chronic hepatitis 5. LÄS MER