Analysis of Hedgehog signaling using Gorlin syndrome derived cells
| Project/Area Number |
24592854
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pathobiological dentistry/Dental radiology
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| Research Institution | Hyogo Medical University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
TAMAOKI Tomoko (HASHIMOTO Tomoko) 兵庫医科大学, 医学部, 教授 (10172868)
KISHIMOTO Hiromitsu 兵庫医科大学, 医学部, 教授 (30291818)
NOGUCHI Kazuma 兵庫医科大学, 医学部, 准教授 (50309473)
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2013: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2012: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
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| Keywords | Gorlin症候群 / Hedgehog signal / PTCH1 / 角化嚢胞性歯原性腫瘍 / ヘッジホッグ / 分化 / KCOT |
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| Outline of Final Research Achievements |
Hedgehog signaling plays pivotal roles in animal development and the control of adult organ homeostasis. Defect of Hedgehog receptor PTCH1 function causes Gorlin syndrome, which is a rare, dominantly inherited disease characterized by developmental anomalies and increased the risk of cancers. We have identified PTCH1 mutations in 15 Gorlin syndrome families. In order to understand the cellular events that are induced by the PTCH1 dysfunction, we have analyzed metabolites and the response against the DNA damages using Gorlin syndrome patient derived cells and non-syndromic cells. Furthermore, we established hereditary and sporadic keratocystic odontogenic tumor (KCOT) cell lines by introducing mutant CDK4, cyclin D1, and TRET. These cell lines show parakeratosis or nodule formation by increasing calcium concentration. Using these KCOT cell lines, it will be possible to analyze the mechanism of development of KCOT and the differences in sporadic or hereditary KCOT.
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Report
(4 results)
Research Products
(17 results)
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[Journal Article] Nevoid basal cell carcinoma syndrome with a unilateral giant ovarian fibroma in a Japanese 6-year-old girl.2014
Author(s)
T. Jimbo, K. Masumoto, Y. Urita, H. Takayasu, T. Shinkai, T. Uesugi, C. Gotoh, N. Sakamoto, T. Sasaki, T. Oto, T. Fukushima, E. Noguchi, Y. Nakano.
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Journal Title
Eur J Pediatr
Volume: 173
Issue: 5
Pages: 667-670
DOI
Related Report
Peer Reviewed
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[Presentation] Hedgehog signaling and human disease2014
Author(s)
Nakano Yoshiro, Noguchi Kazuma, Chiyo Hideaki, Pooh Ritsuko, Kishimoto Hiromitu, Tamaoki tomoko.
Organizer
The 37th Annual Meeting of the Molecular Biology Society of Japan
Place of Presentation
Yokohama
Year and Date
2014-11-25 – 2014-11-27
Related Report
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[Presentation] 次世代シークエンサーの地域医療教育への導入2014
Author(s)
中野 芳朗, 玉置 知子[橋本], 久保 秀司, 吉川 良恵, 振津 かつみ, 若林 一郎, 今西 宏安, 高橋 敬子, 成瀬 均, 鈴木 敬一郎
Organizer
第46回日本医学教育学会大会
Place of Presentation
和歌山
Year and Date
2014-07-18 – 2014-07-19
Related Report
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[Presentation] Greig症候群の家系例2014
Author(s)
玉置 知子[橋本], 千代 豪昭, 夫 律子, 岸本 裕充, 覚道 真理子, 佐藤 智佳, 井上 佳代, 振津 かつみ, 三村 博子, 中野 芳朗
Organizer
第38回日本遺伝カウンセリング学会学術集会
Place of Presentation
東大阪
Year and Date
2014-06-27
Related Report
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