Search for dissertations about: "congenital ichthyosis"

Showing result 1 - 5 of 10 swedish dissertations containing the words congenital ichthyosis.

  1. 1. Hereditary ichthyosis Causes, Skin Manifestations, Treatments and Quality of Life

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Agneta Gånemo; Uppsala universitet.; [2002]
    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; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Dermatology and venerology; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Dermatologi och venerologi; dermatologi och venereologi; Dermatology and Venerology;

    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. 2. Congenital Recessive Ichthyosis Studies of Gene Expressions Related to Keratinocyte Differentiation and Skin Barrier Repair

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Hanqian Zhang; Uppsala universitet.; [2019]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; genodermatoses; oligoarray; trancriptomics; transglutaminase-1; cornified envelope; peroxisome proliferator-activated receptor δ; all-trans retinoic acids.; Dermatologi och venereologi; Dermatology and Venerology;

    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. 3. Molecular genetic studies of three autosomal recessive disorders : Sjögren-Larsson syndrome, glutathione synthetase deficiency and congenital ichthyosis

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Maritta Pigg; Uppsala universitet.; [2000]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Sjögren-Larsson syndrome; glutathione synthetase deficiency; congenital ichthyosis; linkage analysis; allelic association; mutation analysis; transglutaminase 1 gene; Genetik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik; Clinical Genetics; klinisk genetik;

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

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Joakim Klar; Uppsala universitet.; [2005]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Positional cloning; Obesity; Ichthyosis; Meniere’s disease; RORa; PIK3C2G; Genetik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin 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

  5. 5. Sjögren-Larsson syndrome in Sweden an epidemiological, genetic, clinical and biochemical study

    University dissertation from Umeå : Umeå universitet

    Author : Sten Jagell; Umeå universitet.; [1981]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Sjögren-Larsson syndrome; spastic diplegia; spastic tetraplegia; mental retardation; congenital ichthyosis; macular changes;

    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