Search for dissertations about: "Mikael Ivarsson"

Showing result 6 - 6 of 6 swedish dissertations containing the words Mikael Ivarsson.

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

    Author : Hanqian Zhang; Hans Törmä; Anders Vahlquist; Marie Virtanen; Mikael Ivarsson; Uppsala universitet; []
    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