Advanced search
Showing result 1 - 5 of 10 swedish dissertations matching the above criteria.
-
1. Hereditary ichthyosis : Causes, Skin Manifestations, Treatments and Quality of Life
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
-
2. Congenital Recessive Ichthyosis : Studies of Gene Expressions Related to Keratinocyte Differentiation and Skin Barrier Repair
Abstract : Autosomal recessive congenital ichthyosis (ARCI) is a rare monogenetic disorder characterized by a defective skin barrier, hyperkeratosis, and dry, scaly skin. It affects keratinocyte differentiation and is caused by mutations in any of at least 12 genes believed to control the formation of ω-O-acylceramide and the corneocyte lipid envelope (CLE): ABCA12, ALOXE3, ALOX12B, CERS3, CYP4F22, ELOVL4, LIPN, NIPAL4, PNPLA1, SDR9C7, SLC27A4, and TGM1. READ MORE
-
3. Molecular genetic studies of three autosomal recessive disorders : Sjögren-Larsson syndrome, glutathione synthetase deficiency and congenital ichthyosis
Abstract : Investigations at the DNA level were performed in order to characterise the molecular basis forthree genetic disorders:Sjögren-Larsson syndrome (SLS) is characterised by congenital ichthyosis and severeneurological symptoms. Linkage analysis and allelic association of 24 Swedish families affectedby SLS showed linkage between the disease and the marker D17S805 on chromosome 17. READ MORE
-
4. Positional Cloning of Disease Causing Genes : A Genetic Study of Obesity, Ichthyosis Prematurity Syndrome and Meniere's Disease
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
-
5. Sjögren-Larsson syndrome in Sweden : an epidemiological, genetic, clinical and biochemical study
Abstract : The Sjögren-Larsson syndrome (SLS) is a genetically determined syndrome with autosomal recessive inheritance originally and comprehensively described from Sweden. It is characterized by the three cardinal signs congenital ichthyosis, spastic di- or tetraplegia and mental retardation. READ MORE