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KAKEN_26461701seika.pdf
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Title |
Title |
SERPINB7の機能解析に基づく長島型掌蹠角化症の病態解明と治療薬開発
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Kana |
SERPINB7 ノ キノウ カイセキ ニ モトズク ナガシマガタ ショウセキ カッカショウ ノ ビョウタイ カイメイ ト チリョウヤク カイハツ
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SERPINB7 no kino kaiseki ni motozuku Nagashimagata shoseki kakkasho no byotai kaimei to chiryoyaku kaihatsu
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The elucidation of the Nagashima-type palmoplantar keratosis caused by SERPINB7 protease inhibitor deficiency
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塩濱, 愛子
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Kana |
シオハマ, アイコ
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Romanization |
Shiohama, Aiko
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Affiliation |
慶應義塾大学・医学部・特任助教
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Research team head
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科研費研究者番号 : 40383731
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佐々木, 貴史
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ササキ, タカシ
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Sasaki, Takashi
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慶應義塾大学・医学部・講師
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Research team member
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科研費研究者番号 : 70306843
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久保, 亮治
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クボ, アキハル
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Romanization |
Kubo, Akiharu
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慶應義塾大学・医学部・准教授
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Research team member
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科研費研究者番号 : 70335256
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松井, 毅
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マツイ, タケシ
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Matsui, Takeshi
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国立研究開発法人理化学研究所・統合生命医化学研究センター・副チームリーダー
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Research team member
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科研費研究者番号 : 10452442
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2017
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科学研究費補助金研究成果報告書
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2016
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Abstract |
長島型掌蹠角化症(NPPK)は幼少時に発症する常染色体劣性遺伝を示す掌蹠角化症である。本研究ではNPPKの原因遺伝子として申請者の研究グループが同定したSERPINB7の皮膚における機能を明らかにし, NPPKの病態解明と治療薬の開発に向けた基盤形成を目指すことを目的とした。
SERPINB7遺伝子解読の結果, 新規のミスセンス変異とフレームシフト変異を日本人家系より新たに同定し, それぞれの新規変異が病原性変異であることを明らかにした。NPPKが本邦に多くみられる理由は創始者効果によるものであることを実証した。
Nagashima-type palmoplantar keratosis (NPPK) was an established autosomal recessive, early-onset palmoplantar keratoderma caused by mutations in the encoding SERPINB7 gene, a member of the serine protease inhibitor superfamily. To gain of more insight of NPPK, we promoted to create a knockout mouse model, selection of protease inhibited the activity of SERPINB7, and genome analysis of NPPK patients.
We identified novel missense mutations of SERPINB7 gene with NPPK. The mutated proteins formed aggregates and mislocalized within corneocytes, possibly resulting in loss of protease inhibitory activity at the proper location. We applied to the haplotype analysis to determine whether the pathogenic mutations were derived from a common ancestor or represented mutations in the genomic region of SERPINB7. In consequence, the founder effect of the mutation and other recurrent mutations might explain why NPPK was so common in the Japanese population but not in Western populations.
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研究種目 : 基盤研究(C)(一般)
研究期間 : 2014~2016
課題番号 : 26461701
研究分野 : 医歯薬学・皮膚科学
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