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    HUMAN AUTISM SUSCEPTIBILITY GENE ENCODING A KINASE AND USES THEREOF
    3.
    发明申请
    HUMAN AUTISM SUSCEPTIBILITY GENE ENCODING A KINASE AND USES THEREOF 审中-公开
    人类免疫缺陷基因编码一种激酶及其用途

    公开(公告)号：US20090011414A1

    公开(公告)日：2009-01-08

    申请号：US11816468

    申请日：2006-02-16

    申请人： Anne Philippi ,  Francis Rousseau ,  Elke Roschmann

    发明人： Anne Philippi ,  Francis Rousseau ,  Elke Roschmann

    IPC分类号： C12Q1/68 ,  G01N33/573

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

    摘要： The present invention discloses the identification of a human autism susceptibility gene, which can be used for the diagnosis, prevention and treatment of autism and related disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses that the MARK1 gene on chromosome 1 and certain alleles thereof are related to susceptibility to autism and represent novel targets for therapeutic intervention. The present invention relates to particular mutations in the MARKI gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of Asperger syndrome, pervasive developmental disorder, mental retardation, anxiety, depression, attention deficit hyperactivity disorders, speech delay, epilepsy, metabolic disorder, immune disorder, bipolar disease and other psychiatric and neurological diseases including schizophrenia.

    摘要翻译： 本发明公开了一种人类自闭症易感性基因的鉴定，其可用于诊断，预防和治疗自闭症及相关疾病，以及用于筛选治疗活性药物。 本发明更具体地公开了染色体1上的MARK1基因及其某些等位基因与自闭症的易感性相关，并且代表治疗性干预的新靶标。 本发明涉及MARKI基因和表达产物中的特定突变，以及基于这些突变的诊断工具和试剂盒。 本发明可用于诊断阿斯伯格综合征，普遍发育障碍，智力低下，焦虑，抑郁，注意缺陷多动障碍，言语延迟，癫痫，代谢紊乱，免疫功能障碍， 双相性精神障碍和其他精神病和神经系统疾病，包括精神分裂症。

    Methods for identification of identical nucleic acid fragments from different nucleic acid populations
    4.
    发明授权
    Methods for identification of identical nucleic acid fragments from different nucleic acid populations 失效
    鉴定来自不同核酸群体的相同核酸片段的方法

    公开(公告)号：US06887666B1

    公开(公告)日：2005-05-03

    申请号：US09936299

    申请日：2000-03-09

    申请人： Joerg Hager

    发明人： Joerg Hager

    IPC分类号： C12Q1/68 ,  C12P19/34

    CPC分类号： C12Q1/6883

    摘要： The present invention relates to genetic mapping of complex quantitative and qualitative traits. This invention more particularly relates to methods to identify identical DNA fragments from two different DNA sources. The method allows the amplification of the DNAs, their, labelling, and the separation of perfectly matched DNAs from imperfectly matched DNAs or from DNAs formed through hybridisation from the same source (e.g., homohybrids). The invention can be used to identify genes or gene mutations, which are relevant to pathological conditions or particular traits.

    摘要翻译： 本发明涉及复杂的定量和定性特征的遗传图谱。 本发明更具体地涉及鉴定来自两个不同DNA来源的相同DNA片段的方法。 该方法允许DNA的扩增，它们的标记和完全匹配的DNA从不完全匹配的DNA或从通过来自相同来源的杂交形成的DNA（例如，homohybrids）分离。 本发明可用于鉴定与病理状况或特定性状相关的基因或基因突变。

    COMBINATION OF RISK ALLELES ASSOCIATED WITH AUTISM
    5.
    发明申请
    COMBINATION OF RISK ALLELES ASSOCIATED WITH AUTISM 审中-公开
    与澳大利亚相关的风险组合的组合

    公开(公告)号：US20110091899A1

    公开(公告)日：2011-04-21

    申请号：US12997150

    申请日：2009-06-12

    申请人： Jörg Hager ,  Frédéric Tores ,  Francis Rousseau

    发明人： Jörg Hager ,  Frédéric Tores ,  Francis Rousseau

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/156

    摘要： The present invention relates to a method of detecting the presence of or predisposition to autism, or to an autism spectrum disorder, the method comprising detecting the presence of an alteration in the gene loci PITX1, ATP2B2, SLC25A12 and EN2 in a sample from said subject. More particularly, the presence of specific single nucleotide polymorphisms (SNPs) within these genes correlates to a substantially increased risk to develop autism.

    摘要翻译： 本发明涉及一种检测自闭症或自闭症谱系障碍的存在或倾向的方法，所述方法包括检测来自所述受试者的样品中基因位点PITX1，ATP2B2，SLC25A12和EN2中的改变的存在 。 更具体地说，这些基因内的特定单核苷酸多态性（SNP）的存在与发展自闭症的风险大大增加相关。

    Human Autism Susceptibility Gene Encoding PRKCB1 and Uses Thereof
    6.
    发明申请
    Human Autism Susceptibility Gene Encoding PRKCB1 and Uses Thereof 审中-公开
    人类自闭症易感基因编码PRKCB1及其用途

    公开(公告)号：US20100240539A1

    公开(公告)日：2010-09-23

    申请号：US12716538

    申请日：2010-03-03

    申请人： Anne Philippi ,  Francis Rousseau ,  Peter Brooks ,  Jörg Hager

    发明人： Anne Philippi ,  Francis Rousseau ,  Peter Brooks ,  Jörg Hager

    IPC分类号： C40B30/00 ,  C12Q1/68 ,  G01N33/50

    CPC分类号： C12Q1/6883 ,  C12Q2600/106 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/172 ,  Y10T436/143333

    摘要： The present invention discloses the identification of a human autism susceptibility gene, which can be used for the diagnosis, prevention and treatment of autism and related disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses that the PRKCB 1 gene on chromosome 16 and certain alleles thereof are related to susceptibility to autism and represent novel targets for therapeutic intervention. The present invention relates to particular mutations in the PRKCBI gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of Asperger syndrome, pervasive developmental disorder, childhood disintegrative disorder, mental retardation, anxiety, depression, attention deficit hyperactivity disorders, speech delay or language impairment, epilepsy, metabolic disorder, immune disorder, bipolar disease and other psychiatric and neurological diseases.

    摘要翻译： 本发明公开了一种人类自闭症易感性基因的鉴定，其可用于诊断，预防和治疗自闭症及相关疾病，以及用于筛选治疗活性药物。 本发明更具体地公开了染色体16上的PRKCB1基因及其某些等位基因与自闭症的易感性相关，并且代表治疗性干预的新靶标。 本发明涉及PRKCBI基因和表达产物中的特定突变，以及基于这些突变的诊断工具和试剂盒。 本发明可用于诊断阿斯伯格综合症，普遍性发育障碍，儿童崩解障碍，智力迟钝，焦虑，抑郁，注意缺陷多动障碍，言语延迟或语言障碍，癫痫发作，发作，预防和/或治疗 ，代谢紊乱，免疫障碍，双相性精神障碍和其他精神和神经疾病。

    Human Autism Predisposition Gene Encoding a Transcription Factor and Uses Thereof
    7.
    发明申请
    Human Autism Predisposition Gene Encoding a Transcription Factor and Uses Thereof 审中-公开
    人类自闭症易感基因编码转录因子及其用途

    公开(公告)号：US20070218068A1

    公开(公告)日：2007-09-20

    申请号：US11570543

    申请日：2005-06-30

    申请人： Anne Philippi ,  Francis Rousseau ,  Peter Brooks ,  Jorg Hager

    发明人： Anne Philippi ,  Francis Rousseau ,  Peter Brooks ,  Jorg Hager

    IPC分类号： C12Q1/68 ,  A61K48/00 ,  A61K39/395

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

    摘要： The present invention discloses the identification of a human autism susceptibility gene, which can be used for the diagnosis, prevention and treatment of autism and related disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses that the PITX1 gene on chromosome 5 and certain alleles thereof are related to susceptibility to autism and represent novel targets for therapeutic intervention. The present invention relates to particular mutations in the PITX1 gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of pervasive developmental disorder, mental retardation, anxiety, depression, attention deficit hyperactivity disorders, speech delay, epilepsy, metabolic disorder, immune disorder, bipolar disease and other psychiatric and neurological diseases.

    摘要翻译： 本发明公开了一种人类自闭症易感性基因的鉴定，其可用于诊断，预防和治疗自闭症及相关疾病，以及用于筛选治疗活性药物。 本发明更具体地公开了染色体5上的PITX1基因及其某些等位基因与自闭症的易感性相关，并且代表治疗性干预的新靶标。 本发明涉及PITX1基因和表达产物中的特定突变，以及基于这些突变的诊断工具和试剂盒。 本发明可用于广泛性发育障碍，精神发育迟滞，焦虑，抑郁，注意缺陷多动障碍，言语延迟，癫痫，代谢紊乱，免疫障碍，双相性精神病和其他精神和神经疾病的诊断。

    Human Obesity Susceptibility Gene and Uses Thereof
    8.
    发明申请
    Human Obesity Susceptibility Gene and Uses Thereof 审中-公开
    人类肥胖易感基因及其用途

    公开(公告)号：US20070218057A1

    公开(公告)日：2007-09-20

    申请号：US10569163

    申请日：2004-08-27

    申请人： Elke Roschmann ,  Francis Rousseau

    发明人： Elke Roschmann ,  Francis Rousseau

    IPC分类号： A61K39/395 ,  A61K31/7052 ,  A61P3/04 ,  G01N33/53 ,  G01N33/00 ,  A61K38/00

    CPC分类号： G01N33/6893 ,  C12N9/1205 ,  C12Q1/485 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/158 ,  G01N2800/04 ,  G01N2800/042 ,  G01N2800/044 ,  G01N2800/324 ,  Y10T436/143333

    摘要： The present invention discloses the identification of a human obesity susceptibility gene, which can be used for the diagnosis, prevention and treatment of obesity and related disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses that the MAP3K11 gene on chromosome 11 and certain alleles thereof are related to susceptibility to obesity and represent novel targets for therapeutic intervention. The present invention relates to particular mutations in the MAP3K11 gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of coronary heart disease and metabolic disorders, including hypoalphalipoproteinemia, familial combined hyperlipidemia, insulin resistant syndrome X or multiple metabolic disorder, coronary artery disease, diabetes and dyslipidemic hypertension.

    摘要翻译： 本发明公开了可用于诊断，预防和治疗肥胖症及相关疾病以及用于筛选治疗活性药物的人类肥胖易感基因的鉴定。 本发明更具体地公开了染色体11上的MAP3K11基因及其某些等位基因与肥胖的易感性相关，并且代表治疗性干预的新靶标。 本发明涉及MAP3K11基因和表达产物中的特定突变，以及基于这些突变的诊断工具和试剂盒。 本发明可用于诊断冠状动脉心脏病和代谢紊乱，包括低脂蛋白血症，家族性联合高脂血症，胰岛素抵抗综合征X或多种代谢紊乱，冠状动脉疾病，糖尿病和血脂异常的易感性，预防和/或治疗 高血压。

    A METHOD FOR PREDICTING RESPONSIVENESS TO A TREATMENT WITH AN EGFR INHIBITOR
    9.
    发明申请
    A METHOD FOR PREDICTING RESPONSIVENESS TO A TREATMENT WITH AN EGFR INHIBITOR 审中-公开
    用于预防EGFR抑制剂治疗反应的方法

    公开(公告)号：US20160376661A1

    公开(公告)日：2016-12-29

    申请号：US15038826

    申请日：2014-11-26

    申请人： INTEGRAGEN

    发明人： Raphaele THIEBAUT

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6886 ,  C12Q2600/106 ,  C12Q2600/158 ,  C12Q2600/178

    摘要： The present invention relates to a method for predicting whether a patient with a cancer is likely to respond to an epidermal growth factor receptor (EGFR) inhibitor, which method comprises determining the expression level of at least one target gene of hsa-miR-31-3p (SEQ ID NO:1) miRNA in a sample of said patient, wherein said target gene of hsa-miR-31-3p is selected from DBNDD2 and EPB41 L4B. The invention also relates to kits for measuring the expression of DBNDD2 and/or EPB41 L4B and at least one other parameter positively or negatively correlated to response to EGFR inhibitors. The invention also relates to therapeutic uses of an EGFR inhibitor in a patient predicted to respond to said EGFR inhibitor.

    摘要翻译： 本发明涉及一种预测癌症患者是否可能对表皮生长因子受体（EGFR）抑制剂作出反应的方法，该方法包括测定hsa-miR-31-抑制剂中至少一种靶基因的表达水平， 3p（SEQ ID NO：1）所述患者样品中的miRNA，其中所述hsa-miR-31-3p的靶基因选自DBNDD2和EPB41 L4B。 本发明还涉及用于测量DBNDD2和/或EPB41 L4B的表达的试剂盒以及至少一个与对EGFR抑制剂的应答呈正相关或负相关的其它参数。 本发明还涉及预测对所述EGFR抑制剂作出反应的患者中EGFR抑制剂的治疗用途。