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    METHODS FOR THE TREATMENT AND DIAGNOSIS OF BONE MINERAL DENSITY RELATED DISEASES
    8.
    发明申请
    METHODS FOR THE TREATMENT AND DIAGNOSIS OF BONE MINERAL DENSITY RELATED DISEASES 有权
    骨矿物质密度相关疾病的治疗和诊断方法

    公开(公告)号：US20150104437A1

    公开(公告)日：2015-04-16

    申请号：US14577177

    申请日：2014-12-19

    申请人： INSERM (Institut National de la Sante et de la Recherche Medicale)

    发明人： Valerie Cormier-Daire ,  Arnold Munnich

    IPC分类号： C12Q1/68 ,  A61K31/357 ,  A61K38/52

    CPC分类号： C12Q1/6883 ,  A61K31/357 ,  A61K38/52 ,  C12Q2600/136 ,  C12Q2600/156 ,  C12Y503/99005

    摘要： 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 hone 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).

    摘要翻译： 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相关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。

    Isomerases, Nucleic Acids Encoding Them and Methods for Making and Using Them
    9.
    发明申请
    Isomerases, Nucleic Acids Encoding Them and Methods for Making and Using Them 有权
    异构酶，编码它们的核酸及其制备和使用方法

    公开(公告)号：US20140141491A1

    公开(公告)日：2014-05-22

    申请号：US13967157

    申请日：2013-08-14

    申请人： Verenium Corporation

    发明人： David P. WEINER ,  Ellen G. BURKE ,  Peter LUGINBUHL ,  Analia BUENO ,  Joslin M. CUENCA ,  Mervyn L. DE SOUZA ,  Sherry KOLLMANN

    IPC分类号： C12N9/90

    CPC分类号： C12N9/90 ,  A01K67/0275 ,  A01K2217/05 ,  A01K2227/10 ,  A23G3/366 ,  A23G4/123 ,  A23G4/14 ,  A23K20/189 ,  A23L29/06 ,  A23V2002/00 ,  A61K38/00 ,  A61K38/52 ,  C12Q1/533 ,  C12Y501/00 ,  C12Y501/01

    摘要： This invention relates generally to enzymes, polynucleotides encoding the enzymes having isomerase activity, e.g., racemase activity, e.g., amino acid racemase activity, alanine racemase activity, and/or epimerase activity, and/or catalyze the re-arrangement of atoms within a molecule, catalyze the conversion of one isomer into another, catalyze the conversion of an optically active substrate into a raceme, which is optically inactive, catalyze the interconversion of substrate enantiomers, catalyze the stereochemical inversion around the asymmetric carbon atom in a substrate having only one center of asymmetry, catalyze the stereochemical inversion of the configuration around an asymmetric carbon atom in a substrate having more than one asymmetric center, and/or catalyze the racemization of amino acids.

    摘要翻译： 本发明一般涉及酶，编码具有异构酶活性的酶的多核苷酸，例如消旋酶活性，例如氨基酸消旋酶活性，丙氨酸消旋酶活性和/或差向异构酶活性，和/或催化分子内原子重新排列 催化一种异构体转化为另一种异构体，催化光学活性底物转化为光学无活性的外消旋催化底物对映异构体的相互转化，催化仅具有一个中心的底物中不对称碳原子周围的立体化学反应 的不对称性，催化具有多于一个不对称中心的底物中不对称碳原子周围构型的立体化学反转，和/或催化氨基酸的外消旋化。