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    • 117. 发明申请
    • Methods for the Treatment and Diagnosis of Bone Mineral Density Related Diseases
    • 骨矿物质密度相关疾病的治疗和诊断方法
    • US20100284991A1
    • 2010-11-11
    • US12746456
    • 2008-12-05
    • Valerie Cormier-DaireArnold Munnich
    • Valerie Cormier-DaireArnold Munnich
    • A61K38/53C12Q1/68A61K31/7052A61K31/35A61P19/08
    • C12Q1/6883A61K31/357A61K38/52C12Q2600/136C12Q2600/156C12Y503/99005
    • The present invention relates to methods of the treatment and diagnosis of bone mineral density related disorders. More particularly, the present invention relates to a method of diagnosing or predicting a bone mineral density related disease, or a risk of a bone mineral density related disease, in a subject, which method comprises detecting a mutation in the TBXAS1 gene, wherein the presence of said mutation is indicative of a bone mineral density related disease or of a risk of a bone mineral density related disease. The invention also relates to a compound selected in the group consisting of a thromboxane synthase (TXAS) encoding polynucleotide, a TXAS, thromboxane A2 or an analog thereof for treating or preventing a disease associated with an increased bone mineral density (e.g., Ghosal hematodiaphyseal dysplasia syndrome). The invention also relates to a compound selected from the group consisting of an inhibitor of TBXAS1 gene expression or a thromboxane inhibitor for treating or preventing a disease associated with a decreased bone mineral density (e.g., osteoporosis).
    • 本发明涉及骨矿物质密度相关疾病的治疗和诊断方法。 更具体地,本发明涉及诊断或预测受试者中与骨矿物质密度有关的疾病或骨矿物质密度相关疾病的风险的方法,该方法包括检测TBXAS1基因中的突变,其中存在 的所述突变指示与骨矿物质密度相关的疾病或与骨矿物质密度相关的疾病的风险。 本发明还涉及一种选自下列的化合物:由血栓烷合成酶(TXAS)编码多核苷酸,TXAS,血栓素A2或其类似物组成的组,用于治疗或预防与骨矿物质密度增加相关的疾病(例如,高原性血管造影发生不良 综合征)。 本发明还涉及选自TBXAS1基因表达抑制剂或用于治疗或预防与骨矿物质密度降低相关的疾病(例如骨质疏松症)的血栓烷抑制剂的化合物。