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Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation
http://hdl.handle.net/2237/00032357
http://hdl.handle.net/2237/0003235705ac7054-a80e-4279-8363-aa5bfded4ec0
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
JDS_NIPAL4_R2 (2.7 MB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2020-06-12 | |||||
| タイトル | ||||||
| タイトル | Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation | |||||
| 言語 | en | |||||
| 著者 |
Murase, Yuya
× Murase, Yuya× Takeichi, Takuya× Kawamoto, Akane× Tanahashi, Kana× Okuno, Yusuke× Takama, Hiroyuki× Shimizu, Eri× Ishikawa, Junko× Ogi, Tomoo× Akiyama, Masashi |
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| アクセス権 | ||||||
| アクセス権 | open access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
| 権利 | ||||||
| 言語 | en | |||||
| 権利情報 | © 2020. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/ | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Autosomal recessive congenital ichthyosis | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Ceramide | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | NIPAL4 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Skin barrier | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Stratum corneum | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Acylceramide | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Background: NIPAL4, encoding the NIPA-like domain containing 4 protein (NIPAL4), is one of the causative genes of autosomal recessive congenital ichthyosis (ARCI). The physiological role of NIPAL4 and the pathogenetic mechanisms of ARCI caused by NIPAL4 mutations remain unclear. Objective: To clarify the changes of ceramide components in the lesional stratum corneum (SC) and the gene expression profile in the lesional skin of an ARCI patient with a novel frameshift mutation in NIPAL4. Methods: We performed ultrastructural and immunohistochemical analyses of the skin. We used RNA sequencing to determine the mRNA expression in the skin of the patient and healthy individuals. We investigated ceramide components using tape stripped SC samples from the patient. Results: mRNA expression profiling in the patient’s skin showed significant upregulation of IL-17/TNFα-related genes (IL17C, IL36A, IL36G, S100A7A, S100A9) and psoriasis hallmark genes (VNN3, LCE3D, PLA2G4D), and significant downregulation of lipid-associated genes (GAL, HAO2, FABP7). Ceramide analysis in the patient's SC revealed amounts of CER[NS] with carbon chain-length (C) 32–52 were increased, while amounts of most acylceramide with C66:2 - C72:2 were reduced relatively to those in healthy individuals. After the retinoid treatment, CER[NS] with carbon chains C46–54, CER[EOH] and CER[EOP] increased. Conclusion: IL-17C and IL-36 family cytokines might be involved in the pathogenetic process of ARCI with NIPAL4 mutations. Reduced amounts of the acylceramides in the SC are associated with the skin phenotype due to NIPAL4 mutations. Efficacy of the oral retinoid treatment might be due to restored amounts of CER[EOH] and CER[EOP] in the SC. | |||||
| 言語 | en | |||||
| 内容記述 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | ファイル公開：2021-01-01 | |||||
| 言語 | ja | |||||
| 出版者 | ||||||
| 出版者 | Elsevier | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプresource | http://purl.org/coar/resource_type/c_6501 | |||||
| タイプ | journal article | |||||
| 出版タイプ | ||||||
| 出版タイプ | AM | |||||
| 出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
| DOI | ||||||
| 関連タイプ | isVersionOf | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | https://doi.org/10.1016/j.jdermsci.2019.12.001 | |||||
| ISSN（print） | ||||||
| 収録物識別子タイプ | PISSN | |||||
| 収録物識別子 | 0923-1811 | |||||
| 書誌情報 |
en : Journal of Dermatological Science 巻 97, 号 1, p. 50-56, 発行日 2020-01 |
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| 著者版フラグ | ||||||
| 値 | author | |||||
