2013 Fiscal Year Final Research Report
Disease modeling and drug screening of thanatophooric dysplasia using reprogramming technology
| Project/Area Number |
24890101
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| Research Category |
Grant-in-Aid for Research Activity Start-up
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| Allocation Type | Single-year Grants |
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| Research Field |
Surgical dentistry
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| Research Institution | Kyoto University |
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Principal Investigator |
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| Project Period (FY) |
2012-08-31 – 2014-03-31
|
| Keywords | iPS細胞 / 疾患 / 骨軟骨分化 |
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| Research Abstract |
Thanatophoric dysplasia (TD) is a severe skeletal disorder caused by gain-of-function mutations in the fibroblast growth factor receptor-3 (FGFR3) gene. Patients with TD show short limbs and a narrow rib cage caused by abnormal cartilage formation. There are needs for drugs, however the disease mechanism is still unclear.
Here, we have generated induced pluripotent stem cells (iPSCs) from fibroblasts obtained from TD-patients. Then, we will understand disease mechanism and screen candidate drugs.
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