发明名称 |
METHOD FOR THERAPY AND DIAGNOSIS OF BONE MINERAL DENSITY-RELATED DISEASE |
摘要 |
<p>PROBLEM TO BE SOLVED: To provide a method for therapy and diagnosis of a bone mineral density-related disorder, and also a compound for therapy or prevention of a disease involving increase in bone mineral density (for example, Ghosal hematodiaphyseal dysplasia syndrome).SOLUTION: A method for diagnosis or prediction of a risk of bone mineral density-related diseases or bone mineral density-related diseases in a subject comprises detecting mutation of a thromboxane synthetase (TBXAS)1 gene, where the method comprises a step of detecting mutation of TBXAS1 in a nucleic acid sample collected from the subject. In addition, a compound for therapy or prevention of a disease involving decrease in bone mineral density (for example, osteoporosis) is selected from the group of TBXAS1 gene expression inhibitors or thromboxane inhibitors.</p> |
申请公布号 |
JP2014110788(A) |
申请公布日期 |
2014.06.19 |
申请号 |
JP20130254555 |
申请日期 |
2013.12.09 |
申请人 |
INSERM INST NATL DE LA SANTE & DE LA RECH MEDICALE |
发明人 |
VALERIE CORMIER-DAIRE;ARNOLD MUNNICH |
分类号 |
C12Q1/68;A61K31/192;A61K31/4174;A61K31/4406;A61K45/00;A61P19/08;A61P19/10;A61P43/00;C07D213/40;C07D233/60;C12N15/09 |
主分类号 |
C12Q1/68 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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