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Article

Patients with congenital ichthyosis and TGM 1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?

29 Oct 2018

Abstract excerpt

Autosomal recessive congenital ichthyosis (ARCI) is a group of monogenic skin disorders caused by mutations in any of at least 12 different genes, many of which are involved in the epidermal synthesis of ω-O-acylceramides (acylCer). AcylCer are essential precursors of the corneocyte lipid envelope crosslinked by transglutaminase-1 (TGm-1), or a yet unidentified enzyme, for normal skin barrier formation. We...

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PMID: 30372788
DOI: 10.1111/exd.13813

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