Copy number variation analysis of FLG in atopic dermatitis
Project/Area Number |
23791245
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Dermatology
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Research Institution | Hokkaido University |
Principal Investigator |
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Project Period (FY) |
2011 – 2012
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Project Status |
Completed (Fiscal Year 2012)
|
Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2011: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
|
Keywords | アトピー性皮膚炎 / フィラグリン / 遺伝子 |
Research Abstract |
The gene encoding filaggrin (FLG), whose mutations are well known as a predisposing factor for atopic dermatitis, has a copy number variation. The exon 3 of FLG consists of 10-12 highly homologous repeats. In this study, we analyzed the copy number variation using DNAs taken from 100 patients with atopic dermatitis and determined the frequency of each copy number.
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Report
(3 results)
Research Products
(33 results)
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[Journal Article] Type VII collagen deficiency causesdefective 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
Issue: 5
Pages: 1659-71
DOI
Related Report
Peer Reviewed
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[Journal Article] A group of atopic dermatitis without IgE elevation or barrier impairment shows a high Th1 frequency: Possible immunological state of the intrinsic type2012
Author(s)
Kabashima-Kubo R, Nakamura M, Sakabe, J, Sigita K, Hino R, Mori T, Kobayashi M, Bito T, Kabashima K, Ogasawara K, Nomura Y, Nomura T, Akiyama M, Shimizu H, Tokura Y.
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Journal Title
J Dermatol Sci
Volume: 67
Issue: 1
Pages: 37-43
DOI
Related Report
Peer Reviewed
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[Journal Article] Impaired epidermal permeability barrier in mice lacking the Elovl1 gene responsible for very long-chain fatty acid production
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
The Molecular Cell Biology
Volume: (in press)
Related Report
Peer Reviewed
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[Presentation] Mutations in the AAGAB gene, encoding alpha- and gamma-adaptin binding protein p34, cause punctate palmoplantar keratoderma type 12012
Author(s)
Pohler E, Nomura T, Akiyama M, Suehiro M, Shimizu H, Mamai O, Zamiri M, Horn H, Irvine AD, Hirst J, Robinson MS, McGrath JA, Munro CS, McLean WHI
Organizer
The 37th Annual Meeting of the Japanese Society for Investigative Dermatology
Place of Presentation
ロワジールホ テル&スパタワー那覇(沖縄)
Year and Date
2012-12-08
Related Report
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[Presentation] 新規リードスルー治療薬の開発2011
Author(s)
乃村俊史, Gartner U, McElroy S, Torrie L, Pourreyron C, South A, Wood G, Woodland A, Frearson J, Wyatt P, McLean WHI
Organizer
第388回日本皮膚科学会北海道地方会
Place of Presentation
札幌医科大学(札幌)
Year and Date
2011-12-17
Related Report
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[Presentation] Type VII collagen deficiency causes defective tooth enamel formation due to poorly differentiated ameloblasts2011
Author(s)
Umemoto H, Akiyama M, Domon T, Nomura T, Nishie W, Shinkuma S, Ito K, Sawamura D, Uitto J, Kitagawa Y, Shimizu H
Organizer
The 36th Annual Meeting of the Japanese Society for Investigative Dermatology
Place of Presentation
国立国際京都会館(京都)
Year and Date
2011-12-10
Related Report
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[Presentation] Developing small molecule drugs to rescue nonsense mutations in disease-causing genes2011
Author(s)
Nomura T, Gartner U, McElroy S, Torrie L, Pourreyron C, South AP, Wood G, Woodland A, Frearson J, Wyatt P, McLean WHI
Organizer
The 71st annual meeting of the Society for Investigative Dermatology
Place of Presentation
JW Marriott Desert RidgeResort and Spa (USA)
Year and Date
2011-05-05
Related Report
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