Elucidation of the pathological mechanism of Gorlin syndrome using disease-specific iPS cells
| Project/Area Number |
16K20427
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Functional basic dentistry
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| Research Institution | Tokyo Dental College |
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Principal Investigator |
Onodera Shoko 東京歯科大学, 歯学部, 講師 (90637662)
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| Project Period (FY) |
2016-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2017: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2016: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | 疾患iPS細胞 / 骨芽細胞分化 / 遺伝子解析 / Gorlin症候群 / 骨芽細胞 / 疾患特異的iPS / Hedgehog経路 / Golrin 症候群 / 基底細胞母斑症候群 / 疾患特異的iPS細胞 |
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| Outline of Final Research Achievements |
Golrin syndrome is an autosomal dominant inherited disorder with a mutation in the Hh receptor, PTCH1. The syndrome have various conditions like bone abnomarty and multipul tumor. Although relationship between mutation location and symptoms is unclear. Genetic analysis showed that there were variants in other Hh receptor receptors PTCH2 and BOC in patients with mutations in PTCH1. This additional mutation may affect activation of Hh pathway. GorliniPS cells established from this syndrome have activation of the WNT pathway and BMP pathway in addition to the activity of the Hh pathway at osteoblast differentiation.This interaction may contributes to bone morphological abnormality with Gorlin syndrome.
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Report
(3 results)
Research Products
(9 results)
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[Journal Article] Targeted reversion of induced pluripotent stem cells from patients with human cleidocranial dysplasia showed corrected osteoblastic differentiation both in vitro and in vivo.2018
Author(s)
Ooki A, Nakamura T, Onodera S, Hayashi K, Hasegawa D, Kato H, Onda T, Watanabe A, Kosaki K, Nishimura K, Ohtaka M, Nakanishi M, Sakamoto T, Yamaguchi A, Sueishi K, Azuma T
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Journal Title
Stem Cell Res Ther
Volume: 9
Issue: 1
Pages: 12-12
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Gorlin syndrome-derived induced pluripotent stem cells are hypersensitive to Hedgehog-mediated osteogenic induction.2017
Author(s)
Hasegawa D, Shino H, Onodera S, Nakamura T, Saito A, Onda T, Watanabe K, Nishimura K, Ohtaka M, Nakanishi M, Kosaki K, Yamaguchi A, Shibahara T, Azuma T
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Journal Title
PLos One
Volume: 12
Issue: 10
Pages: e0186879-e0186879
DOI
Related Report
Peer Reviewed / Open Access
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