2010 Fiscal Year Final Research Report
Identification of the causative genes and investigation of the molecular pathogenesis for skeletal dysplasias
| Project/Area Number |
20390408
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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 |
Orthopaedic surgery
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| Research Institution | The Institute of Physical and Chemical Research |
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Principal Investigator |
FURUICHI Tatsuya The Institute of Physical and Chemical Research, 医学部, 講師 (30392103)
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| Co-Investigator(Kenkyū-buntansha) |
IKEGAWA Shiro 独立行政法人理化学研究所, 骨間接疾患研究チーム, チームリーダー (30272496)
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| Project Period (FY) |
2008 – 2010
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| Keywords | 骨系統疾患 / 遺伝子診断 / 小児運動器学 |
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| Research Abstract |
We identified SLC39A13/ZIP13, TRIP11, CHST14, and SMOC1 as novel causative genes for skeletal dysplasias. We defined the spectrum of the diseases caused by SLC35D1, CANT1, and TRPV4 mutations. By using Zip13, Trip11, and Smoc1 mutant mice, we examined the disease-causing mechanisms by respective gene mutations. These findings should be useful to establish novel strategies for diagnosis and therapy of skeletal dysplasias.
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