Various phenotypes and pathophysiology of congenital ichthyoses
| Project/Area Number |
23591661
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Dermatology
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| Research Institution | Hyogo Medical University |
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Principal Investigator |
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| Research Collaborator |
IMAI Yasutomo 兵庫医科大学, 医学部, 講師 (10529514)
NAKAGAWA Noboru 兵庫医科大学, 医学部, 講師 (90412014)
YAMAMOTO Masaaki 兵庫医科大学, 医学部, 講師
SAKAGUCHI Yoshiko 兵庫医科大学, 実験補助
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| Project Period (FY) |
2011 – 2013
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2012: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2011: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 角化症 / 魚鱗癬 / 病態 / モデル動物 / サイトカイン / 魚鱗癬様紅皮症 / ネザートン症候群 / ケラチン / トランスグルタミナーゼ / 常染色体劣性魚鱗癬 / トランスグルタミナーゼ１ / 温度感受性 / 葉状魚鱗癬 |
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| Research Abstract |
Various phenotypes and pathophysiology were examined in Causative mutations in congenital ichthyoses including rare cases with epidermolytic ichthyosis with hypercalcemia and bathing suit ichthyosis with summer exacerbation. A knock-in mouse line with a transglutaminase 1 mutation R142C was generated using Cre-lox system and mice were subjected for analysis of the phenotype. Homozygous mutant mice were lethal soon after birth and showed a low expression of the enzyme. Intercellular lipid organization in the stratum corneum was totally disoriented in living mutant mice. In cases with Netherton syndrome, which show atopic dermatitis-like phenotypes, the up-regulation of interleukin 33 was evident. IL-33 may be involved in the atopy-like cutaneous inflammation in Netherton syndrome, because a skin-specific expression of IL-33 in mice showed immunological features resembling atopic dermatitis.
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Report
(4 results)
Research Products
(30 results)
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[Journal Article] Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice2012
Author(s)
Nakagawa N, Yamamoto M, Imai Y, Sakaguchi Y, Takizawa T, Noboru O,Yagi N,Hatta I, Hitomi K, Takizawa T, Tsuda T, Matsuki M, Takeda J, Yamanishi K
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Journal Title
J Dermatol Sci
Volume: 65
Pages: 196-206
Related Report
Peer Reviewed
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