Search for dissertations about: "Thesis skin disease"

Showing result 1 - 5 of 419 swedish dissertations containing the words Thesis skin disease.

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

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

    Abstract : 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. READ MORE

  4. 2. Darier disease : more than skin deep

    Author : Philip Curman; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Darier disease (DD) is a severe, inherited dermatological disorder with a characteristic clinical and histopathological appearance. It is caused by mutations in the ATP2A2 gene, encoding a Ca2+ pump in the endoplasmic reticulum, Sarco/Endoplasmic Reticulum Ca2+-ATPase 2 (SERCA2), which has been found to be an essential regulator of cellular Ca2+ homeostasis. READ MORE

  5. 3. Hereditary ichthyosis : Causes, Skin Manifestations, Treatments and Quality of Life

    Author : Agneta Gånemo; Åke Svensson; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Dermatology and venereology; Ichthyosis; congenital ichthyosis; genodermatoses; skin disease; quality of life; topical treatment; lactic acid; propylene glycol; Dermatologi och venerologi; Dermatology and venerology; Dermatologi och venerologi; Dermatology and Venerology; dermatologi och venereologi;

    Abstract : Hereditary ichthyosis is a collective name for many dry and scaly skin disorders ranging in frequency from common to very rare. The main groups are autosomal recessive lamellar ichthyosis, autosomal dominant epidermolytic hyperkeratosis and ichthyosis vulgaris, and x-linked recessive ichthyosis. READ MORE

  6. 4. The limbic-hypothalamic-pituitary-adrenal axis in Alzheimer's disease

    Author : Birgitta Näsman; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Alzheimer’s disease; multi-infarct dementia; hippocampus; temporal lobe; adrenal androgens; adrenocorticotropin; corticotropinreleasing hormone; cortisol; skin blanching;

    Abstract : Dysfunction of the limbic-hypothalamic-pituitary-adrenal (LHPA) axis is a common finding in advanced dementia. In this study, the function of the LHPA axis at different levels was investigated in patients with dementia and in healthy elderly.A subtle disturbance in the feedback regulation of the LHPA axis was found in patients with early (i.e. READ MORE

  7. 5. Aspects of Microbial Influence on Skin Disease

    Author : Andreas Sonesson; Lund Dermatologi och venereologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Abstract : The skin constitutes an effective barrier mediating protection against environmental danger and foreign substances. At the surface of the skin, the residential microorganisms grow as small colonies and consist of various non-pathogenic bacteria, fungi and viruses. READ MORE