Sökning: "epidermolysis bullosa simplex"

Hittade 1 avhandling innehållade orden epidermolysis bullosa simplex.

1. 1. Disease-causing Keratin Mutations and Cytoskeletal Dysfunction in Human Skin : In vitro Models and new Pharmacologic Strategies for Treating Epidermolytic Genodermatoses

   Författare :Jean Christopher Chamcheu; Anders Vahlquist; Hans Törmä; Harshad Navsaria; Marie Virtanen; Torbjörn Egelrud; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; epidermolysis bullosa simplex; epidermolytic ichthyosis; genodermatoses; keratin; keratin mutation; keratinocytes; gene therapy; pharmacological therapy; immortalization; gene regulation; trimethylamine N-oxide TMAO ; sodium 4-phenylbutyrate 4-PBA ; tissue engineering; cell culture; heat shock proteins; MAP kinases; Dermatology and venerology; Dermatologi och venerologi; Dermatologi och venereologi; Dermatology and Venerology;

   Sammanfattning : Epidermolysis bullosa simplex (EBS) and epidermolytic ichthyosis (EI) are rare skin fragility diseases characterized by intra-epidermal blistering due to autosomal dominant-negative mutations in basal (KRT5 or KRT14) and suprabasal (KRT1 or KRT10) keratin genes,  respectively. Despite vast knowledge in the disease pathogenesis, the pathomechanisms are not fully understood, and no effective remedies exist. LÄS MER