Sökning: "trancriptomics"

Hittade 1 avhandling innehållade ordet trancriptomics.

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

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

    Sammanfattning : 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. LÄS MER