Sökning: "transglutaminase-1"
Hittade 5 avhandlingar innehållade ordet transglutaminase-1.
1. Congenital Recessive Ichthyosis : Studies of Gene Expressions Related to Keratinocyte Differentiation and Skin Barrier Repair
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
2. Hereditary ichthyosis : Causes, Skin Manifestations, Treatments and Quality of Life
Sammanfattning : 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. LÄS MER
3. Gene expression and genetic association studies in eczema
Sammanfattning : Eczema is an itching relapsing and often chronic inflammatory skin disorder associated with cutaneous hyper reactivity to environmental triggers that are innocuous to normal individuals. The differentiation of epidermal keratinocytes leads to the formation of a physical barrier and together with appropriate innate immune responses produce a functional epidermal barrier protecting us against a number of detrimental factors in the external environment. LÄS MER
4. Psoriasin For Better or for Worse in Sickness and in Health : The Role of Psoriasin in Angiogenesis and Differentation of Epithelial Cells
Sammanfattning : Psoriasin (S100A7), a member of the S100 family of calcium-binding proteins, is highly expressed in high-grade ductal carcinoma in situ (DCIS) and in the benign hyper-proliferative skin disorder psoriasis. Both breast cancer and psoriasis are diseases which are characterized by hyperproliferation and a disturbed differentiation of the epithelial cells as well as a pronounced angiogenesis. LÄS MER
5. Genetic studies of skin barrier defects with focus on atopic dermatitis
Sammanfattning : Atopic dermatitis (AD) is a common, complex inflammatory skin disorder where a defect skin barrier is central in the pathogenesis. Mutations in the filaggrin gene cause ichthyosis vulgaris (IV). IV is one of several keratinization disorders named ichthyoses where mutations in skin barrier genes are a common underlying genetic factor. LÄS MER