Multidimensional etiologic analysis of autoinflammatory keratinization disease
| Project/Area Number |
18K16058
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 53050:Dermatology-related
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| Research Institution | Nagoya University |
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Principal Investigator |
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| Project Period (FY) |
2018-04-01 – 2023-03-31
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| Project Status |
Completed (Fiscal Year 2022)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2019: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2018: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | 角化異常症 / 自己炎症 / 遺伝性皮膚疾患 / 自己炎症性皮膚疾患 / 遺伝子変異 |
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| Outline of Final Research Achievements |
To elucidate the comprehensive pathogenesis of autoinflammatory keratinization diseases (AiKD) and to obtain basic data directly related to the development of new treatments for AiKDs. Clinical studies provided expanding the spectrum of AiKD phenotypes and making recommendations for the clinical management of generalized pustular psoriasis with incorporating the latest findings. From the experiments using model mice and model cells, we discovered a novel AiKD caused by gain-of-function mutation in the JAK1 gene, and established a novel AiKD model mouse with a gain-of-function variant in the Nlrp1 gene.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究により、AiKDsに含まれる疾患のスペクトラムが拡大し、これまで病因が不明であった難治性のAiKD症例についての遺伝学的診断を行うことができた。各症例の病態メカニズムが明らかになることで、主要な炎症経路を標的としたオーダーメイド治療の開発が期待される。難治性疾患であるAiKD患者のQOL向上に資する成果と考えられる。さらに、AiKDモデルマウスを用いて、既存の治療薬である抗IL-1β抗体製剤の効果を確認することができた。本研究で樹立したモデルマウスやモデル細胞を使うことで、新規の治療薬候補製剤開発のための実験を行うことが可能となる。
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Report
(6 results)
Research Products
(51 results)
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[Journal Article] Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation.2022
Author(s)
Takeichi T, Lee JYW, Okuno Y, Miyasaka Y, Murase Y, Yoshikawa T, Tanahashi K, Nishida E, Okamoto T, Ito K, Muro Y, Sugiura K, Ohno T, McGrath JA, Akiyama M.
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Journal Title
Front Immunol.
Volume: 12
Pages: 737747-737747
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Case of annular pustular psoriasis / circinate erythematous psoriasis induced by hydroxychloroquine in a patient with systemic lupus erythematosus: Possible association with CARD-14 mutation2021
Author(s)
Midorikawa H, Kiniwa Y, Minagawa A, Osawa K, Shirai T, Sano T, Nakamura K, Ashida A, Ueno K, Takeichi T, Akiyama M, Okuyama R
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Journal Title
J Dermatol
Volume: 48
Issue: 9
DOI
Related Report
Peer Reviewed
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[Journal Article] Two cases of generalized pustular psoriasis complicated by IgG4-related disease.2018
Author(s)
Miyazawa H, Fujita Y, Iwata H, Ishikawa Y, Nishio S, Ishijima K, Shinmei Y, Takeichi T, Goto K, Oi R, Akiyama M, Shimizu H.
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Journal Title
Br J Dermatol.
Volume: 179
Pages: 537-539
DOI
Related Report
Peer Reviewed
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