Articles with "tgm1 mutations" as a keyword



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Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?

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Published in 2018 at "Experimental Dermatology"

DOI: 10.1111/exd.13813

Abstract: 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).… read more here.

Keywords: barrier; barrier repair; response; tgm1 mutations ... See more keywords