Sökning: "Ichthyin"

Hittade 2 avhandlingar innehållade ordet Ichthyin.

  1. 1. Genetic and Molecular Studies of Two Hereditary Skin Disorders

    Författare :Johanna Dahlqvist; Niklas Dahl; Anders Vahlquist; Juha Kere; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Monogenic disorder; autosomal recessive congenital ichthyosis; KLICK syndrome; Ichthyin; POMP; proteasome; epidermal differentiation; Clinical genetics; Klinisk genetik; Clinical Genetics; Klinisk genetik;

    Sammanfattning : Monogenic disorders, i.e., disorders caused by mutations in a single gene, are rare and clinically heterogeneous conditions. Identification of the genetic cause of monogenic traits can bring new insights into molecular pathways and disease mechanisms. LÄS MER

  3. 2. In vitro Studies of Genodermatoses Affecting Cytoskeletal Integrity and Lipid Processing in Human Epidermis : Pathogenic Mechanisms and Effects of Retinoid Therapy

    Författare :Hao Li; Hans Törmä; Anders Vahlquist; Mikael Ivarsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Congenital Ichthyosiform Erythroderma; Epidermolytic Hyperkeratosis; Ceramides; Keratins; Retinoids; Molecular Probe Techniques; Transglutaminases; Lipoxygenases; Fatty Acid Transporter Proteins; Keratinocytes; Epidermis; Medicinsk vetenskap; Medical Science;

    Sammanfattning : Autosomal dominant epidermolytic ichthyosis (EI) is a rare disease characterized by intra-epidermal blistering due to mutations in either of two keratin genes, KRT1 and KRT10, expressed by suprabasal keratinocytes. Autosomal recessive congenital ichthyosis (ARCI) is a non-blistering, hyperkeratotic disease caused by mutations in one of the following genes: ABCA12, ALOX12B, ALOXE3, TGM1, CYP4F22, NIPAL4 and SLC27A4, which are all essential for skin barrier homeostasis. LÄS MER