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2781 条记录 (耗时 0.083 秒)

    Method and Kit for Determining Severity and Progression of Periodontal Disease
    132.
    发明申请
    Method and Kit for Determining Severity and Progression of Periodontal Disease 有权
    确定牙周病严重程度和进展的方法和试剂盒

    公开(公告)号：US20130337448A1

    公开(公告)日：2013-12-19

    申请号：US13962637

    申请日：2013-08-08

    申请人： Interleukin Genetics, Inc.

    发明人： Kenneth Kornman ,  Xiaodong Wu ,  Hwa-Ying Wang ,  John Rogus

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q1/6827 ,  C12Q2600/118 ,  C12Q2600/156 ,  C12Q2600/172 ,  G01N2800/18

    摘要： An improved method and kit of determining whether a patient is predisposed to having severe periodontal disease and/or having high risk of progression of periodontal disease, comprising the steps of (i) taking a biological sample from said patient; (ii) genotyping said biological sample for genetic polymorphism pattern comprising IL 1B (rs16944), IL 1B (rs1143623) and IL 1B (rs4848306); and (iii) comparing said genetic polymorphism patterns to a reference composite genotype pattern; wherein the similarity of said genetic polymorphism patterns to said reference pattern indicate said patient's predisposition to having severe periodontal disease and/or having high risk of progression of periodontal disease.

    摘要翻译： 一种改进的方法和试剂盒，用于确定患者是否倾向于具有严重的牙周疾病和/或具有高风险的牙周病，包括以下步骤：（i）从所述患者取得生物样品; （ii）对包含IL 1B（rs16944），IL 1B（rs1143623）和IL 1B（rs4848306）的遗传多态性模式的所述生物样品进行基因分型; 和（iii）将所述遗传多态性模式与参考复合基因型模式进行比较; 其中所述遗传多态性模式与所述参考模式的相似性指示所述患者患有严重牙周疾病和/或具有高牙周病进展风险的倾向。

    GENETIC POLYMORPHISMS ASSOCIATED WITH RHEUMATOID ARTHRITIS, METODS OF DETECTION AND USES THEREOF
    134.
    发明申请
    GENETIC POLYMORPHISMS ASSOCIATED WITH RHEUMATOID ARTHRITIS, METODS OF DETECTION AND USES THEREOF 审中-公开
    与湿疹病毒相关的遗传多态性，检测的物质及其用途

    公开(公告)号：US20130315894A1

    公开(公告)日：2013-11-28

    申请号：US13630942

    申请日：2012-09-28

    申请人： CELERA CORPORATION

    发明人： Steven J. SCHRODI ,  Ann B. BEGOVICH

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/106 ,  C12Q2600/118 ,  C12Q2600/136 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/172

    摘要： The present invention provides compositions and methods based on genetic polymorphisms that are associated with autoimmune disease, particularly rheumatoid arthritis. For example, the present invention relates to nucleic acid molecules containing the polymorphisms, variant proteins encoded by these nucleic acid molecules, reagents for detecting the polymorphic nucleic acid molecules and variant proteins, and methods of using the nucleic acid molecules and proteins as well as methods of using reagents for their detection.

    摘要翻译： 本发明提供了基于与自身免疫疾病特别是类风湿性关节炎有关的遗传多态性的组合物和方法。 例如，本发明涉及含有多态性的核酸分子，由这些核酸分子编码的变体蛋白，用于检测多态型核酸分子和变体蛋白的试剂，以及使用核酸分子和蛋白质的方法以及方法 使用试剂进行检测。

    Genetic polymorphisms and infertility
    135.
    发明授权
    Genetic polymorphisms and infertility 有权
    遗传多态性与不育症

    公开(公告)号：US08586300B2

    公开(公告)日：2013-11-19

    申请号：US12934236

    申请日：2009-03-25

    申请人： Steven H. Zeisel ,  Amy Johnson

    发明人： Steven H. Zeisel ,  Amy Johnson

    IPC分类号： C12Q1/68 ,  C12P19/34 ,  C07H21/02

    CPC分类号： C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/172

    摘要： Methods of screening for a cause of low sperm motility and/or for mitochondrial impairment in subjects are provided, comprising determining a genotype of the subject with respect to at least one choline metabolism gene and comparing the genotype of the subject with at least one reference choline metabolism genotype associated with low sperm motility and/or impaired mitochondrial function, wherein a similarity between the subject and reference genotypes indicates a cause of low sperm motility and/or impaired mitochondrial function in the subject. In another aspect, methods for treating subjects having low sperm motility and/or impaired mitochondrial function are provided, comprising administering to the subject an effective amount of a choline metabolism supplement composition to at least partially ameliorate the low sperm motility and/or impaired mitochondrial function.

    摘要翻译： 提供筛选受试者的精子活力低和/或线粒体损伤的原因的方法，包括确定受试者相对于至少一种胆碱代谢基因的基因型，并将受试者的基因型与至少一种参考胆碱 代谢基因型与低精子运动性和/或受损的线粒体功能相关，其中受试者和参考基因型之间的相似性表示受试者中精子活力低和/或受损的线粒体功能的原因。 在另一方面，提供了用于治疗具有低精子活力和/或线粒体功能受损的受试者的方法，包括向所述受试者施用有效量的胆碱代谢补充组合物，以至少部分地改善低精子活力和/或线粒体功能受损 。

    Genetic Variants as Markers for Use in Urinary Bladder Cancer Risk Assessment, Diagnosis, Prognosis and Treatment
    136.
    发明申请
    Genetic Variants as Markers for Use in Urinary Bladder Cancer Risk Assessment, Diagnosis, Prognosis and Treatment 审中-公开
    遗传变异作为标记用于膀胱癌的风险评估，诊断，预后和治疗

    公开(公告)号：US20130296175A1

    公开(公告)日：2013-11-07

    申请号：US13979119

    申请日：2012-01-12

    申请人： Thorunn Rafnar ,  Patrick Sulem

    发明人： Thorunn Rafnar ,  Patrick Sulem

    IPC分类号： C12Q1/68 ,  G06F19/18 ,  G01N33/68

    CPC分类号： C12Q1/6886 ,  C12Q2600/106 ,  C12Q2600/156 ,  C12Q2600/172 ,  G01N33/6872 ,  G16B20/00

    摘要： Polymorphic variants that have been found to be associated with risk of urinary bladder cancer are provided herein. Such polymorphic markers are useful for diagnostic purposes, such as in methods of determining a susceptibility, and for prognostic purposes, including methods of predicting prognosis and methods of assessing an individual for probability of a response to therapeutic 5 agents, as further described herein. Further applications utilize the polymorphic markers of the invention include screening and genotyping methods. The invention furthermore provides related kits, and computer-readable media and apparatus.

    摘要翻译： 本文提供已发现与膀胱癌风险相关的多形性变体。 这样的多态性标记物可用于诊断目的，例如在确定易感性的方法中，以及用于预后目的，包括预测预测的方法和评估个体对治疗性5剂的响应概率的方法，如本文进一步所述。 其他应用利用本发明的多态性标记物包括筛选和基因分型方法。 本发明还提供了相关的套件以及计算机可读介质和设备。

    PULMONARY DISEASE TREATMENT AND DIAGNOSIS BASED ON ARHGEF1
    137.
    发明申请
    PULMONARY DISEASE TREATMENT AND DIAGNOSIS BASED ON ARHGEF1 有权
    基于ARHGEF1的肺部疾病治疗和诊断

    公开(公告)号：US20130289121A1

    公开(公告)日：2013-10-31

    申请号：US13979410

    申请日：2012-01-13

    申请人： Raul M. Torres ,  John Hartney ,  Roberta Pelanda

    发明人： Raul M. Torres ,  John Hartney ,  Roberta Pelanda

    IPC分类号： A61K31/192 ,  C12Q1/68 ,  G01N33/577

    CPC分类号： A61K31/192 ,  A61K31/18 ,  A61K31/403 ,  A61K31/4178 ,  C12Q1/6883 ,  C12Q2600/106 ,  C12Q2600/136 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/172 ,  G01N33/577

    摘要： Treatment and diagnostic methods are provided for pulmonary disease, including chronic obstructive pulmonary disease, Arhgef1, a leukocyte signaling molecule, functions normally to suppress integrin-mediated MMP production by alveolar macrophages. MMP9 production by fibronectin-stimulated monocytes and macrophages depends on autocrine thromboxane receptor signaling and this signaling pathway is attenuated by Arhgef1. Expression of ARHGEF1 by human peripheral blood monocytes varies between individuals and inversely correlates with fibronectin-mediated MMP9 production. Arhgef1 levels can function as a predictor for a pulmonary disease candidate and a thromboxane receptor antagonist can treat a pulmonary disease condition resulting from low Arhgef1 levels.

    摘要翻译： 肺部疾病包括慢性阻塞性肺疾病的治疗和诊断方法，白血球信号分子Arhgef1通常用于抑制肺泡巨噬细胞的整合素介导的MMP产生。 纤连蛋白刺激的单核细胞和巨噬细胞的MMP9产生取决于自分泌血栓素受体信号传导，并且该信号通路被Arhgef1减弱。 人外周血单核细胞ARHGEF1的表达在个体之间变化，与纤连蛋白介导的MMP9产生反应相关。 Arhgef1水平可作为肺部疾病候选者的预测因子，血栓素受体拮抗剂可以治疗由低Arhgef1水平导致的肺部疾病状况。

    Nucleic acids, methods and kits for the diagnosis of DYT6 primary torsion dystonia
    138.
    发明授权
    Nucleic acids, methods and kits for the diagnosis of DYT6 primary torsion dystonia 有权
    用于诊断DYT6原发性扭转肌张力障碍的核酸，方法和试剂盒

    公开(公告)号：US08568980B2

    公开(公告)日：2013-10-29

    申请号：US12694908

    申请日：2010-01-27

    申请人： Laurie Ozelius ,  Susan Bressman

    发明人： Laurie Ozelius ,  Susan Bressman

    IPC分类号： C07H21/04 ,  C12Q1/68

    CPC分类号： C12Q1/6883 ,  C07K14/47 ,  C07K14/4747 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/172

    摘要： The invention relates generally to the THAP1 gene and mutations in this gene, as well as the THAP1 protein and mutations in this protein, that are associated with dystonia. The invention relates to the identification, isolation, cloning and characterization of the DNA sequence corresponding to the wild type and mutant THAP1 genes, as well as isolation and characterization of their transcripts and gene products. The invention further relates to methods and kits useful for detecting mutations in THAP1 that are associated with dystonia, as well as to methods and kits useful for diagnosing dystonia. The present invention also relates to therapies for treating dystonia, including gene therapeutics and protein/antibody based therapeutics.

    摘要翻译： 本发明一般涉及该基因中的THAP1基因和突变，以及与肌张力障碍相关的THAP1蛋白和该蛋白质中的突变。 本发明涉及对应于野生型和突变体THAP1基因的DNA序列的鉴定，分离，克隆和表征，以及其转录物和基因产物的分离和表征。 本发明还涉及可用于检测与肌张力障碍相关的THAP1中的突变的方法和试剂盒，以及可用于诊断肌张力障碍的方法和试剂盒。 本发明还涉及治疗肌张力障碍的疗法，包括基因治疗剂和基于蛋白质/抗体的治疗剂。