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Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma.
Life Sci Alliance
February 2019
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Revertant mosaicism is a phenomenon in which pathogenic mutations are rescued by somatic events, representing a form of natural gene therapy. Here, we report on the first evidence for revertant mosaicism in loricrin keratoderma (LK), an autosomal dominant form of ichthyosis caused by mutations in on 1q21.3.
View Article and Find Full Text PDFLoricrin Confers Photoprotective Function against UVB in Corneocytes.
J Invest Dermatol
December 2018
Department of Dermatology and Charles C. Gates Center for Regenerative Medicine, Anschutz Medical Campus, University of Colorado, Aurora, Colorado, USA.
Proteomic Analysis of Loricrin Knockout Mouse Epidermis.
J Proteome Res
August 2016
Department of Dermatology, Charles C. Gates Center for Regenerative Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado 80045, United States.
The crosslinked envelope of the mammalian epidermal corneocyte serves as a scaffold for assembly of the lipid barrier of the epidermis. Thus, deficient envelope crosslinking by keratinocyte transglutaminase (TGM1) is a major cause of the human autosomal recessive congenital ichthyoses characterized by barrier defects. Expectations that loss of some envelope protein components would also confer an ichthyosis phenotype have been difficult to demonstrate.
View Article and Find Full Text PDFStructural changes in epidermal scale and appendages as indicators of defective TGM1 activity.
Arch Dermatol Res
September 2005
Department of Environmental Toxicology, University of California, One Shields Avenue, Davis, CA 95616-8588, USA.
Defective transglutaminase 1 (TGM1) is a causative factor in some cases of lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) despite large differences in the phenotype between these conditions. In some of these individuals, defective cornified envelopes (CEs) have been reported by light or electron microscopic examination in epidermal scale, nail and/or hair. These findings suggest that assessment of such defects could have a diagnostic utility in distinguishing TG1-deficient versus non-deficient cases of autosomal recessive ichthyosis (ARI) .
View Article and Find Full Text PDFBricks and mortar of the epidermal barrier.
Exp Mol Med
March 1999
Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Maryland 20892-2752, USA.
A specialized tissue type, the keratinizing epithelium, protects terrestrial mammals from water loss and noxious physical, chemical and mechanical insults. This barrier between the body and the environment is constantly maintained by reproduction of inner living epidermal keratinocytes which undergo a process of terminal differentiation and then migrate to the surface as interlocking layers of dead stratum corneum cells. These cells provide the bulwark of mechanical and chemical protection, and together with their intercellular lipid surroundings, confer water-impermeability.
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