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17 条记录 (耗时 0.062 秒)

    Methods for the Treatment and Diagnosis of Bone Mineral Density Related Diseases
    1.
    发明申请
    Methods for the Treatment and Diagnosis of Bone Mineral Density Related Diseases 审中-公开
    骨矿物质密度相关疾病的治疗和诊断方法

    公开(公告)号：US20100284991A1

    公开(公告)日：2010-11-11

    申请号：US12746456

    申请日：2008-12-05

    申请人： Valerie Cormier-Daire ,  Arnold Munnich

    发明人： Valerie Cormier-Daire ,  Arnold Munnich

    IPC分类号： A61K38/53 ,  C12Q1/68 ,  A61K31/7052 ,  A61K31/35 ,  A61P19/08

    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 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).

    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。

    Survival motor neuron (SMN) gene: a Gene for spinal muscular atrophy
    5.
    发明申请
    Survival motor neuron (SMN) gene: a Gene for spinal muscular atrophy 审中-公开
    生存运动神经元（SMN）基因：脊髓性肌萎缩基因

    公开(公告)号：US20060089490A1

    公开(公告)日：2006-04-27

    申请号：US11222810

    申请日：2005-09-12

    申请人： Judith Melki ,  Arnold Munnich

    发明人： Judith Melki ,  Arnold Munnich

    IPC分类号： C07K14/705

    CPC分类号： G01N33/6893 ,  A01K2217/05 ,  A61K38/00 ,  C07K14/47 ,  C07K14/475 ,  C12Q1/6883 ,  C12Q2600/158 ,  Y02A50/451 ,  Y02A50/465

    摘要： The present invention relates to the discovery of the human survival motor-neuron gene or SMD gene, which is a chromosome 5-SMA (Spinal Muscular Atrophy) determining gene. The present invention further relates to the nucleotide sequence encoding the SMN gene and corresponding amino acid sequence, a vector containing the gene encoding the SMN protein or a DNA sequence corresponding to the gene and transformant strains containing the SMN gene or a DNA sequence corresponding to the gene.

    摘要翻译： 本发明涉及人类生存运动神经元基因或SMD基因的发现，其是染色体5-SMA（脊髓肌萎缩）确定基因。 本发明还涉及编码SMN基因的核苷酸序列和相应的氨基酸序列，含有编码SMN蛋白的基因的载体或与该基因相对应的DNA序列和含有SMN基因的转化体菌株或对应于 基因。

    Use of Deferiprone and Methods to Treat and/or Prevent Friedreich Ataxia Resulting from Intracellular Mishandling of Iron
    7.
    发明申请
    Use of Deferiprone and Methods to Treat and/or Prevent Friedreich Ataxia Resulting from Intracellular Mishandling of Iron 审中-公开
    使用去铁酮和方法治疗和/或预防由铁的细胞内不良处理引起的弗里德里希共济失调

    公开(公告)号：US20130190365A1

    公开(公告)日：2013-07-25

    申请号：US13755048

    申请日：2013-01-31

    申请人： Arnold Munnich ,  Michael Spino ,  Ioav Cabantchik

    发明人： Arnold Munnich ,  Michael Spino ,  Ioav Cabantchik

    IPC分类号： A61K31/4412

    CPC分类号： A61K31/4412 ,  A61K31/195 ,  A61K31/4196

    摘要： A therapeutically effective amount of deferiprone or deferasirox or physiologically acceptable salts thereof for the prevention, stabilization, treatment, or reversal of iron-induced FRDA disease in patients resulting from mitochondrial iron-induced damage to preferentially reduce the iron stores in the mitochondria. Also for the treatment of other conditions affecting the brain where a key element in the generation of the resultant pathology is the intracellular mishandling of iron.

    摘要翻译： 用于预防，稳定，治疗或逆转由线粒体铁诱导的损伤导致的铁诱导的FRDA疾病的治疗有效量的去铁酮或去铁调或其生理上可接受的盐，以优先减少线粒体中的铁储存。 也用于治疗影响大脑的其他条件，其中所产生的病理学的关键因素是铁的细胞内不良处理。