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    DETECTION OF GENE FUSIONS BY INTRAGENIC DIFFERENTIAL EXPRESSION (IDE) USING AVERAGE CYCLE THRESHOLDS
    1.
    发明申请
    DETECTION OF GENE FUSIONS BY INTRAGENIC DIFFERENTIAL EXPRESSION (IDE) USING AVERAGE CYCLE THRESHOLDS 审中-公开
    通过平均周期曲线检测基因融合（IDE）

    公开(公告)号：WO2015148494A1

    公开(公告)日：2015-10-01

    申请号：PCT/US2015/022230

    申请日：2015-03-24

    Applicant: QUEST DIAGNOSTICS INVESTMENTS INCORPORATED

    Inventor： CHENG, Shih-Min

    IPC: G06F19/20

    CPC classification number: C12Q1/6886 ,  C12Q1/6858 ,  C12Q2600/158 ,  C12Q2600/16 ,  C12Q2537/143 ,  C12Q2537/165 ,  C12Q2539/105

    Abstract: Described herein are methods and kits for detecting the presence or absence of gene dysregulations such as those arising from gene fusions and/or chromosomal abnormalities, e.g. translocations, insertions, inversions and deletions. The methods, compositions and kits are useful for detecting mutations that cause the differential expression of a 5' portion of a target gene relative to the 3' region of the target gene. The average expression of the 5' portion of the target gene is compared with the average expression of the 3' portion of the target gene to determine an intragenic differential expression (IDE). The IDE can then be used to determine if a dysregulation or a particular disease (or susceptibility to a disease) is present or absent in a subject or sample.

    Abstract translation: 本文描述了用于检测基因失调的存在或不存在的方法和试剂盒，例如由基因融合和/或染色体异常引起的那些异常。 易位，插入，倒置和删除。 方法，组合物和试剂盒可用于检测导致靶基因相对于靶基因3'区的5'部分的差异表达的突变。 将目标基因的5'部分的平均表达与目标基因的3'部分的平均表达进行比较，以确定基因内差异表达（IDE）。 然后可以使用IDE来确定受试者或样品中是否存在失调或特定疾病（或对疾病的易感性）。

    METHODS OF IDENTIFYING COMPOUNDS THAT TARGET tRNA SPLICING ENDONUCLEASE AND USES OF SAID COMPOUNDS AS ANTI-FUNGAL AGENTS
    3.
    发明申请
    METHODS OF IDENTIFYING COMPOUNDS THAT TARGET tRNA SPLICING ENDONUCLEASE AND USES OF SAID COMPOUNDS AS ANTI-FUNGAL AGENTS 审中-公开
    鉴定目标tRNA分离内切酶的化合物的方法和作为抗真菌剂的合成化合物的用途

    公开(公告)号：WO2004087070A2

    公开(公告)日：2004-10-14

    申请号：PCT/US2004/009574

    申请日：2004-03-26

    Applicant: PTC THERAPEUTICS, INC. ,  TROTTA, Christopher, R.

    Inventor： TROTTA, Christopher, R.

    IPC: A61K

    CPC classification number: C40B30/06 ,  C12Q1/6813 ,  C12Q1/6897 ,  C12Q2539/105

    Abstract: The present invention relates to a method for screening and identifying compounds that modulate the activity of a fungal tRNA splicing endonuclease. In particular, the invention provides assays for the identification of compounds that inhibit or reduce the activity of a fungal tRNA splicing endonuclease. The methods of the present invention provide a simple, sensitive assay for high-throughput screening of libraries of compounds to identify pharmaceutical leads useful for preventing, treating, managing and/or ameliorating a fungal infection or fungal infestation or one or more symptoms thereof.

    Abstract translation: 本发明涉及筛选和鉴定调节真菌tRNA剪接核酸内切酶活性的化合物的方法。 特别地，本发明提供了用于鉴定抑制或降低真菌tRNA剪接内切核酸酶活性的化合物的测定。 本发明的方法提供了一种用于高通量筛选化合物文库的简单灵敏的测定法，以鉴定可用于预防，治疗，管理和/或改善真菌感染或真菌侵袭或其一种或多种症状的药物引线。

    QUALITATIVE DIFFERENTIAL SCREENING
    4.
    发明申请
    QUALITATIVE DIFFERENTIAL SCREENING 审中-公开
    定性差异筛选

    公开(公告)号：WO2004040018A2

    公开(公告)日：2004-05-13

    申请号：PCT/IB2003/005268

    申请日：2003-10-29

    Applicant: EXONHIT THERAPEUTICS SA ,  TOCQUE, Bruno ,  BRACCO, Laurent ,  EDON, Florence ,  SCHWEIGHOFFER, Fabien

    Inventor： TOCQUE, Bruno ,  BRACCO, Laurent ,  EDON, Florence ,  SCHWEIGHOFFER, Fabien

    IPC: C12Q1/68

    CPC classification number: C12N15/1072 ,  C12Q1/6809 ,  C12Q1/6886 ,  C12Q2600/106 ,  C12Q2600/136 ,  C12Q2600/142 ,  C12Q2539/105 ,  C12Q2565/501 ,  C12Q2537/113 ,  C12Q2521/301

    Abstract: The invention concerns a method for identifying and/or cloning nucleic acid regions representing qualitative differences associated with alternative splicing events and/or with insertions, deletions located in RNA transcribed genome regions, between two physiological situations, comprising either hybridization of RNA derived from the test situation with cDNA's derived from the reference situation and/or reciprocally, or double-strand hybridization of cDNA derived from the test situation with cDNA's derived from the reference situation; and identifying and/or cloning nucleic acids representing qualitative differences. The invention also concerns compositions or banks of nucleic acids representing qualitative differences between two physiological situations, obtainable by the above method, and their use as probe, for identifying genes or molecules of interest, or still for example in methods of pharmacogenomics, and profiling of molecules relative to their therapeutic and/or toxic effects. The invention further concerns the use of dysregulation of splicing RNA as markers for predicting molecule toxicity and/or efficacy, and as markers in pharmacogenomics.

    Abstract translation: 本发明涉及用于鉴定和/或克隆代表与选择性剪接事件相关的定性差异的核酸区域的方法和/或在两个生理情境之间的位于RNA转录基因组区域中的插入，缺失的方法，其包括衍生自测试的RNA的杂交 来自参考情况的cDNA的情况和/或来自测试情况的​​cDNA的双链杂交和/或来自参考情况的cDNA的双链杂交; 以及鉴定和/或克隆代表定性差异的核酸。 本发明还涉及表示通过上述方法获得的两种生理情况之间的定性差异的核酸组合物或组，以及它们作为探针的用途，用于鉴定感兴趣的基因或分子，或者仍然例如在药物基因组学的方法中，以及 分子相对于其治疗和/或毒性作用。 本发明还涉及使用拼接RNA的调节作为用于预测分子毒性和/或功效的标记物，以及作为药物基因组学中的标记物。

    QUALITATIVE DIFFERENTIAL SCREENING
    10.
    发明申请
    QUALITATIVE DIFFERENTIAL SCREENING 审中-公开
    定性差异筛选

    公开(公告)号：WO99046403A1

    公开(公告)日：1999-09-16

    申请号：PCT/FR1999/000547

    申请日：1999-03-11

    IPC: C12N15/09 ,  C07K16/18 ,  C12N1/15 ,  C12N1/19 ,  C12N1/21 ,  C12N5/10 ,  C12Q1/68

    CPC classification number: C12Q1/6809 ,  C12Q1/6827 ,  C12Q1/6837 ,  C12Q2539/105 ,  C12Q2537/113 ,  C12Q2521/301 ,  C12Q2565/501

    Abstract: The invention concerns a method for identifying and/or cloning nucleic acid regions representing qualitative differences associated with alternative splicing events and/or with insertions, deletions located in RNA transcribed genome regions, between two physiological situations, comprising either hybridisation of RNA derived from the test situation with cDNA's derived from the reference situation and/or reciprocally, or double-strand hybridisation of cDNA derived from the test situation with cDNA's derived from the reference situation; and identifying and/or cloning nucleic acids representing qualitative differences. The invention also concerns compositions or banks of nucleic acids representing qualitative differences between two physiological situations, obtainable by the above method, and their use as probe, for identifying genes or molecules of interest, or still for example in methods of pharmacogenomics, and profiling of molecules relative to their therapeutic and/or toxic effects. The invention further concerns the use of dysregulation of splicing RNA as markers for predicting molecule toxicity and/or efficacy, and as markers in pharmacogenomics.

    Abstract translation: 本发明涉及用于鉴定和/或克隆代表与选择性剪接事件相关的定性差异的核酸区域的方法和/或在两个生理情况之间的插入，位于RNA转录基因组区域中的缺失，包括来自测试的RNA的杂交 来自参考情况的cDNA的情况和/或来自测试情况的​​cDNA的双链杂交和/或来自参考情况的cDNA的双链杂交; 以及鉴定和/或克隆代表定性差异的核酸。 本发明还涉及表示通过上述方法获得的两种生理情况之间的定性差异的核酸组合物或组，以及它们作为探针的用途，用于鉴定感兴趣的基因或分子，或者仍然例如在药物基因组学的方法中，以及 分子相对于其治疗和/或毒性作用。 本发明还涉及使用拼接RNA的调节作为用于预测分子毒性和/或功效的标记物，以及作为药物基因组学中的标记物。

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