Elucidation of pathogenesis and development of novel therapy of chilblain lupus on the basis of an exonuclease enzyme
Project/Area Number |
24659526
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Research Category |
Grant-in-Aid for Challenging Exploratory Research
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Allocation Type | Single-year Grants |
Research Field |
Dermatology
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Research Institution | Nagoya University |
Principal Investigator |
AKIYAMA Masashi 名古屋大学, 医学(系)研究科(研究院), 教授 (60222551)
|
Project Period (FY) |
2012-04-01 – 2013-03-31
|
Project Status |
Completed (Fiscal Year 2013)
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Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2012: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
|
Keywords | 家族性凍瘡状狼瘡 / 凍瘡状狼瘡 / 核酸分解酵素 / TREX1 / 遺伝子変異解析 / DNA切断実験 / 遺伝子変異臨床型相関 / DDEDhモチーフ / 新規ミスセンス変異 / 日本人第一例目 / 常染色体優性遺伝性疾患 |
Research Abstract |
A Japanese female patient of chilblain lupus followed by us has family history of chilblain lupus which is considered autosomal dominant trait. The onset of chilblain lupus of the patient was 1 year-old. She shows skin ulcers on the bilateral fingers and nose, and has contraction of finger joints. Direct sequencing of all coding exons and exon-intron boundaries of TREX1 and SAMHD1 was conducted. The patient had a novel heterozygous missense TREX1 c.394C>G (p.Pro132Ala) mutation. in vitro 3 prime single stranded DNA exonuclease assay revealed that TREX1 p.Pro132Ala had dysfunction of enzyme activity. Taken together, we found familial chilblain lupus due to TREX1 dysfunction in Japan for the first time.
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Report
(3 results)
Research Products
(100 results)
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[Journal Article] The Majority of Generalized Pustular 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: 2514-21
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 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: 2787-96
Related Report
Peer Reviewed
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[Journal Article] Aberrant distribution patterns of corneodesmosomal components of tape-stripped corneocytes in atopic dermatitis and related skin conditions (ichthyosis vulgaris, Netherton syndrome and peeling skin syndrome type B)2013
Author(s)
Igawa S, Kishibe M, Honma M, Murakami M, Mizuno Y, Suga Y, Seishima M, Ohguchi Y, Akiyama M, Hirose K, Ishida-Yamamoto A, Iizuka H.
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Journal Title
J Dermatol Sci
Volume: 72
Pages: 54-60
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Peer Reviewed
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[Journal Article] Clinico-pathologic Analysis of 66 Japanese Thin Melanomas with Metastasis of Sentinel or Regional Lymph Node.2013
Author(s)
Mori M, Sugiura M, Kono M, Matsumoto T, Sawada M, Yokota K, Yasue S, Shibata S, Sakakibara A, Nakamura S, Tomita Y, Akiyama M.
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Journal Title
J Cutan Pathol
Volume: 40
Issue: 12
Pages: 1027-34
DOI
Related Report
Peer Reviewed
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[Journal Article] The majority of generalized pusular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.2013
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
Issue: 11
Pages: 2514-2521
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.2013
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
Issue: 14
Pages: 2787-2796
DOI
Related Report
Peer Reviewed
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[Journal Article] Aberrant distribution patterns of corneodesmosomal components of tape-stripped corneocytes in atopic dermatitis and related skin conditions (ichthyosis vulgaris, Netherton syndrome and peeling skin syndrome type B).2013
Author(s)
Igawa S, Kishibe M, Honma M, Murakami M, Mizuno Y, Suga Y, Seishima M, Ohguchi Y, Akiyama M, Hirose K, Ishida-Yamamoto A, Iizuka H.
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Journal Title
J Dermatol Sci
Volume: 72
Issue: 1
Pages: 54-60
DOI
Related Report
Peer Reviewed
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[Journal Article] Impact of next generation sequencing on diagnostics in a genetic skin2013
Author(s)
Takeichi T, Nanda A, Liu L, Salam A, Campbell P, Fong K, Akiyama M, Ozoemena L, Stone K, Al-Ajmi H, Simpson M, McGrath J.
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Journal Title
Exp Dermatol
Volume: 22
Issue: 12
Pages: 825-831
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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] 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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