2013 Fiscal Year Final Research Report
Innovation of novel treatments for various phenotypes of ichthyosis by restoration of ABCA12 lipid transporter gene expression
| Project/Area Number |
23249058
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| Research Category |
Grant-in-Aid for Scientific Research (A)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Dermatology
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| Research Institution | Nagoya University |
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Principal Investigator |
AKIYAMA Masashi 名古屋大学, 医学(系)研究科(研究院), 教授 (60222551)
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| Co-Investigator(Kenkyū-buntansha) |
OGAWA Yasushi 名古屋大学, 医学部附属病院, 病院助教 (10567754)
KONO Michihiro 名古屋大学, 医学系研究科, 講師 (60319324)
ABE Riichiro 北海道大学, 医学研究科, 准教授 (60344511)
SUGIURA Kazumitsu 名古屋大学, 医学系研究科, 准教授 (70335032)
MURO Yoshinao 名古屋大学, 医学系研究科, 准教授 (80270990)
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| Project Period (FY) |
2011-04-01 – 2014-03-31
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| Keywords | 皮膚病理学 / 角化異常症 |
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| Research Abstract |
In the present study, we established ABCA12-mutant mice harboring ABCA12 partial loss-of-function mutations, as model mice for congenital ichthyosiform erythroderma. In the model mice, we evaluated the up-regulation effects on ABCA12 gene expression by various compounds, which were expected to have up-regulation effects on ABCA12 gene expression. As for the compounds which were proved to have up-regulation effects on ABCA12 gene expression, we further investigated treatment efficacy of the up-regulators of ABCA12 gene expression in the model mice, by monitoring ichthyosis phenotype recovery and restoration of skin barrier function.
In addition, we also established model mice carrying ABCA12 loss-of-function mutations as a model of harlequin ichthyosis. Using the model mice, we evaluated treatment efficacy of various read-through compounds to harlequin ichthyosis phenotypes by monitoring restoration of the stratum corneum barrier function and phenotype recovery.
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[Journal Article] Impaired epidermal permeability barrier in mice lacking the Elovl1 gene responsible for very long-chain fatty acid production2013
Author(s)
Sassa T, Ohno Y, Suzuki S, Nomura T, Nishioka C, Kashiwagi T, Hirayama T, Akiyama M, Taguchi R, Shimizu H, Itohara S, Kihara A
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Journal Title
Mol Cell Biol
Volume: 33
Pages: 2787-2796
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[Journal Article] The majority of generalized pusular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist2013
Author(s)
Sugiura K, Takemoto A, Yamaguchi M, Takahashi H, Shoda Y, Mitsuma T, Tsuda K, Nishida E, Togawa Y, Nakajima K, Sakakibara A, Kawachi S, Shimizu M, Ito Y, Takeichi T, Kono M, Ogawa Y, Muro Y, Ishida-Yamamoto A, Sano S, Matsue H, Morita A, Mizutani H, Iizuka H, Muto M, Akiyama M
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Journal Title
J Invest Dermatol
Volume: 133
Pages: 2514-2521
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[Journal Article] Type VII collagen deficiency causes defective tooth enamel formation due to poor differentiation of ameloblasts2012
Author(s)
Umemoto H, Akiyama M, Domon T, Nomura T, Shinkuma S, Ito K, Asaka T, Sawamura D, Uitto J, Uo M, Kitagawa Y, Shimizu H
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Journal Title
Am J Pathol
Volume: 181
Pages: 1659-1671
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