2012 Fiscal Year Final Research Report
Molecular analysis of transcriptional pathways in osteochondro-progenitors
| Project/Area Number |
22390340
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Morphological basic dentistry
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| Research Institution | Tokyo Medical and Dental University |
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Principal Investigator |
FUNATO Noriko 東京医科歯科大学, 医歯学研究支援センター, 講師 (10376767)
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| Co-Investigator(Kenkyū-buntansha) |
MASATAKA Nakamura 東京医科歯科大学, 医歯学研究支援センター, 教授 (30180392)
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| Project Period (FY) |
2010 – 2012
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| Keywords | bHLH 型転写因子 / T-box 型転写因子 / 頭蓋顎顔面骨 |
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| Research Abstract |
T-box transcription factor, Tbx1, is the major candidate gene for 22q11.2 deletion syndrome (DiGeorge/ Velo-cardio-facial syndrome) characterized by facial defects, thymus hypoplasia, cardiovascular anomalies, and cleft palates. In this project, we found that loss of Tbx1 in mouse results in skeletal abnormalities strikingly similar to those of cleidocranial dysplasia (CCD) in humans, which is an autosomal-dominant skeletal disease caused by mutations in RUNX2.
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Research Products
(7 results)
