Pharmacological treatment of oculocutaneous albinism type 1 by read-though effect
Project/Area Number |
25670504
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Research Category |
Grant-in-Aid for Challenging Exploratory Research
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Allocation Type | Multi-year Fund |
Research Field |
Dermatology
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Research Institution | Osaka City University |
Principal Investigator |
FUKAI KAZUYOSHI 大阪市立大学, 医学(系)研究科(研究院), 准教授 (20244642)
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Co-Investigator(Kenkyū-buntansha) |
KUNIMOTO Hiroyuki 大阪市立大学, 大学院医学研究科, 助教 (80372853)
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Project Period (FY) |
2013-04-01 – 2015-03-31
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Project Status |
Completed (Fiscal Year 2014)
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Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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Keywords | albinism / genetic disorder / aminoglycoside / read-through / nonsense mutation / 白皮症 / ナンセンス変異 / アミノグリコシド / リードスルー / 遺伝性疾患 / 難病 / 難病治療 |
Outline of Final Research Achievements |
We have chosen R116X, W236X, R278X, and R402X mutations because they are the most frequent four nonsense mutations, and in addition we selected Q255X since we assumed that the -1 position of T, and +1 position of C (T-TAG-C) may be favorable for read-through phenomenon.Among the five nonsense TYR nonsense mutations, read-through effect was noted even without aminoglycosides in R116X. This is probably because the nucleotide sequence around the R116X meets the favorable situation reported by Celia et al as below. Especially, the plus 1 position of C (TGA-C) may be essential for the basal read-through because no read-through effect was observed in other four nonsense mutations (W236X, Q255X, R278X, R402X).)In this study, we were not able to find read-through effect of PTC124 with R116X and R278X. This may be in agreement with the fact that the plus 1 position of the R116X and R278X is C and T, respectively.
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Report
(3 results)
Research Products
(20 results)
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[Journal Article] Guide for medical professionals (i.e. dermatologists) for the management of Rhododenol-induced leukoderma.2015
Author(s)
Nishigori C, Aoyama Y, Ito A, Suzuki T, Tanemura A, Ito M, Katayama I, Oiso N, Kagohashi Y, Sugiura S, Fukai K, Funasaka Y, Yamashita T, Matsunaga K.
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Journal Title
Journal of Dermatology
Volume: 42
Issue: 2
Pages: 113-128
DOI
Related Report
Peer Reviewed
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[Journal Article] An immune pathological and ultrastructural skin analysis for rhododenol-induced leukoderma patients.2015
Author(s)
Tanemura A, Yang L, Yang F, Nagata Y, Wataya-Kaneda M, Fukai K, Tsuruta D, Ohe R, Yamakawa M, Suzuki T, Katayama I.
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Journal Title
J Dermatol Sci.
Volume: 777
Issue: 3
Pages: 185-8
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Major association of vitiligo with HLA-A *02:01 in Japanese2015
Author(s)
Jin Y, Hayashi M, Fain PR, Suzuki T, Fukai K, Oiso N, Tanemura A, Holcomb CL, Rastrou M, Erlich HA, Spritz RA
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Journal Title
Pigment Cell Melanoma Res
Volume: 28
Issue: 3
Pages: 360-362
DOI
Related Report
Peer Reviewed
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[Journal Article] Variants in melanogenesis-related genes associate with skin cancer risk among Japanese populations.2014
Author(s)
Yoshizawa J, Abe Y, Oiso N, Fukai K, Hozumi Y, Nakamura T, Narita T, Motokawa T, Wakamatsu K, Ito S, Kawada A, Tamiya G, Suzuki T
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Journal Title
J Dermatol
Volume: 41
Issue: 4
Pages: 296-302
DOI
Related Report
Peer Reviewed
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[Journal Article] Guidelines for the diagnosis and treatment of vitiligo in Japan.2013
Author(s)
Oiso N, Suzuki T, Wataya-Kaneda M, Tanemura A, Tanioka M, Fujimoto T, Fukai K, Kawakami T, Tsukamoto K, Sano S, Mitsuhashi Y, Nishigori C, Morita A, Nakagawa H, Mizoguchi M, Katayama I, Yamaguchi Y.
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Journal Title
Journal of Dermatology
Volume: 40
Issue: 5
Pages: 344-354
DOI
Related Report
Peer Reviewed
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[Presentation] 色素失調症の男児例2014
Author(s)
清水奈美、深井和吉、小澤俊幸、新宅治夫、河野通浩
Organizer
日本小児皮膚科学会
Place of Presentation
セルリアンタワー東急ホテル(東京)
Year and Date
2014-07-05 – 2014-07-06
Related Report
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