The development of new non-invasive therapeutic strategy of dyschromatosis symmetrica hereditaria with topical agent
Project/Area Number |
24591646
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Dermatology
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Research Institution | Nagoya University |
Principal Investigator |
Kono Michihiro 名古屋大学, 医学(系)研究科(研究院), 講師 (60319324)
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Co-Investigator(Kenkyū-buntansha) |
AKIYAMA Masashi 名古屋大学, 大学院医学系研究科, 教授 (60222551)
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Project Period (FY) |
2012-04-01 – 2016-03-31
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Project Status |
Completed (Fiscal Year 2015)
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Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2014: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2012: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
|
Keywords | 遺伝性対側性色素異常症 / dyschromatosis / DSH / RNA編集 / 治療 / 遺伝子診断 |
Outline of Final Research Achievements |
Dyschromatosis symmetrica hereditaria (DSH) is a hereditary pigmentary disorder caused by heterozygous mutations in ADAR1 encoding an RNA editing enzyme. The elucidation of pathogenesis and establishment of definitive therapy of DSH have still remained. This study aimed for development of a novel topical treatment for DSH. At first, we planed identification of candidate compounds which upregulate the RNA editing activity by the drug library screening and, in addition, planed establishment of DSH model mice for evaluation of efficacy of the candidate drugs. We could not identify a novel agent to up-regulate RNA editing activity within the present study period. Furthermore, we tried to develop a gene modification mouse, but the mouse mimicking the clinical manifestations of the human DSH was not established. Within the present study period, we also performed the genetic diagnosis of several DSH patients and contributed to their final diagnoses.
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Report
(5 results)
Research Products
(73 results)
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[Journal Article] Dyschromatosis symmetrica hereditaria and Aicardi-Goutires syndrome 6 are phenotypic variants caused by ADAR1 mutations.2016
Author(s)
Kono M, Matsumoto F, Suzuki Y, Suganuma M, Saitsu H, Ito Y, Fujiwara S, Matsumoto K, Moriwaki S, Matsumoto N, Tomita Y, Sugiura K, Akiyama M.
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Journal Title
J Invest Dermatol.
Volume: 136
Issue: 4
Pages: 875-8
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations.2016
Author(s)
Okamura K, Araki Y, Abe Y, Shigyou A, Fujiyama T, Baba A, Kanekura T, Chinen Y, Kono M, Niizeki H, Tsubota A, Konno T, Hozumi Y, Suzuki T.
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Journal Title
J Dermatol Sci.
Volume: 81
Issue: 2
Pages: 140-2
DOI
Related Report
Peer Reviewed
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[Journal Article] Dowling-Degos disease with mutations in POFUT1 is clinicopathologically distinct from reticulate acropigmentation of Kitamura.2015
Author(s)
Kono M, Suganuma M, Takama H, Zarzoso I, Saritha M, Bodet D, Aboobacker S, Kaliaperumal K, Suzuki T, Tomita Y, Sugiura K, Akiyama M.
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Journal Title
Br J Dermatol
Volume: 173
Issue: 2
Pages: 584-6
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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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] Oculocutaneous albinism 1 minimal pigment type : a case report on the analysis of genotype of an OCA1MP patient2012
Author(s)
Kono, M., Kondo, T., Ito, S., Suzuki, T., Wakamatsu, K, et al
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Journal Title
Br.J.Dermatol.
Volume: 166
Issue: 4
Pages: 896-898
DOI
Related Report
Peer Reviewed
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[Presentation] Filaggrin gene mutations are significantly associated with food allergy in Japanese primary school children.2015
Author(s)
Kono M, Akiyama M, Nomura T, McLean WHI, Shimizu H, Sugiura K, Hata A, Okamoto Y, Inoue Y, Suzuki Y, Shimojo N.
Organizer
第40回日本研究皮膚科学会
Place of Presentation
岡山県岡山市(岡山コンベンションセンター)
Year and Date
2015-12-11
Related Report
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[Presentation] 網状肢端色素沈着症の1例.2015
Author(s)
堤 美穂、中井章淳、加藤則人、河野通浩.
Organizer
第440回日本皮膚科学会京滋地方会
Place of Presentation
京都府京都市(京都大学)
Year and Date
2015-06-06
Related Report
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