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- W2996111177 abstract "One of the genetic predisposing factors for atopic dermatitis (AD) is abnormal barrier function in the stratum corneum. Mutations in the filaggrin gene (FLG) have become apparent as a cause of this abnormal barrier function [ [1] O’Regan G.M. Sandilands A. McLean W.H.I. Irvine A.D. Filaggrin in atopic dermatitis. J. Allergy Clin. Immunol. 2008; 122: 689-693 Abstract Full Text Full Text PDF PubMed Scopus (275) Google Scholar ]. In addition, functional lipids in the epidermis, especially ω-O-esterified ultra-long-chain acylceramide (EOS), are important for skin barrier function [ [2] Akiyama M. Corneocyte lipid envelope (CLE), the key structure for skin barrier function and ichthyosis pathogenesis. J. Dermatol. Sci. 2017; 88: 3-9 Abstract Full Text Full Text PDF PubMed Scopus (68) Google Scholar ]. The corneocyte lipid envelope (CLE) is also an essential structure for proper stratum corneum barrier function [ [2] Akiyama M. Corneocyte lipid envelope (CLE), the key structure for skin barrier function and ichthyosis pathogenesis. J. Dermatol. Sci. 2017; 88: 3-9 Abstract Full Text Full Text PDF PubMed Scopus (68) Google Scholar ]. CLE is a thin, single lipid layer located between the intercellular lipid layers and the cornified cell envelope (CCE). The CLE is mostly composed of ω-hydroxyceramide with ultra-long-chain (ULC) fatty acids derived from EOS. A number of genes are involved in the formation of the CLE, including ELOVL family genes, CYP4F22, SLC27A4, and PNPLA1 [ [3] Kihara A. Synthesis and degradation pathways, functions, and pathology of ceramides and epidermal acylceramides. Prog. Lipid Res. 2016; 63: 50-69 Crossref PubMed Scopus (122) Google Scholar , [4] Ohno Y. Nakamichi S. Ohkuni A. Kamiyama N. Naoe A. Tsujimura H. et al. Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation. Proc. Natl. Acad. Sci. U.S.A. 2015; 112: 7707-7712 Crossref PubMed Scopus (108) Google Scholar ]. Few reports have addressed the association between CLE formation and AD. Thus, to understand the association between AD, and EOS synthesis and CLE formation, we analyzed polymorphisms of genes related to EOS synthesis and CLE formation, and identified a significant association between the PNPLA1 single-nucleotide polymorphism (SNP) rs4713956 and AD." @default.
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- W2996111177 date "2020-01-01" @default.
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- W2996111177 title "Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis" @default.
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- W2996111177 doi "https://doi.org/10.1016/j.jdermsci.2019.12.006" @default.
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