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  1. C100 医学部/医学系研究科
  2. C100a 雑誌掲載論文
  3. 学術雑誌

Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation

http://hdl.handle.net/2237/00032357
http://hdl.handle.net/2237/00032357
05ac7054-a80e-4279-8363-aa5bfded4ec0
名前 / ファイル ライセンス アクション
JDS_NIPAL4_R2.pdf JDS_NIPAL4_R2 (2.7 MB)
Item type 学術雑誌論文 / Journal Article(1)
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

WEKO 99661

en Murase, Yuya

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Takeichi, Takuya

× Takeichi, Takuya

WEKO 99662

en Takeichi, Takuya

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Kawamoto, Akane

× Kawamoto, Akane

WEKO 99663

en Kawamoto, Akane

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Tanahashi, Kana

× Tanahashi, Kana

WEKO 99664

en Tanahashi, Kana

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Okuno, Yusuke

× Okuno, Yusuke

WEKO 99665

en Okuno, Yusuke

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Takama, Hiroyuki

× Takama, Hiroyuki

WEKO 99666

en Takama, Hiroyuki

Search repository
Shimizu, Eri

× Shimizu, Eri

WEKO 99667

en Shimizu, Eri

Search repository
Ishikawa, Junko

× Ishikawa, Junko

WEKO 99668

en Ishikawa, Junko

Search repository
Ogi, Tomoo

× Ogi, Tomoo

WEKO 99669

en Ogi, Tomoo

Search repository
Akiyama, Masashi

× Akiyama, Masashi

WEKO 99670

en Akiyama, Masashi

Search repository
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 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
内容記述タイプ Abstract
内容記述
内容記述 ファイル公開:2021-01-01
言語 ja
内容記述タイプ Other
出版者
言語 en
出版者 Elsevier
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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