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    Human Autism Susceptibility Gene Encoding Prkcb1 and Uses Thereof
    1.
    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：US20080193464A1

    公开(公告)日：2008-08-14

    申请号：US11570480

    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： A61K39/395 ,  C12Q1/68 ,  A61K31/70 ,  A61K33/00 ,  A61P25/00 ,  A61K31/135 ,  A61K31/38 ,  G01N33/567

    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 PRKCB1 gene of 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 PRKCB1 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 Asperse syndrome, pervasive developmental disorder, childhood disintegrate disorder, mental retardation, anxiety, depression, attention deficit hyperactive disorders, speech delay or language impairment, epilepsy, metabolic disorder, immune disorder, bipolar disease and other psychiatric and neurological disease.

    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16号染色体的PRKCB1基因及其某些等位基因与自闭症易感性有关，代表治疗干预的新靶点。 本发明涉及PRKCB1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Asperse综合征，普遍发育障碍，儿童分解障碍，精神发育迟滞，焦虑，抑郁，注意力缺陷多动障碍，语言延迟或语言障碍，癫痫的倾向，检测，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疾病和神经疾病。

    Human Autism Predisposition Gene Encoding a Transcription Factor and Uses Thereof
    2.
    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 DIABETES SUSCEPTIBILITY PEBP4 GENE
    4.
    发明申请
    HUMAN DIABETES SUSCEPTIBILITY PEBP4 GENE 审中-公开
    人类糖尿病不育PEBP4基因

    公开(公告)号：US20100203517A1

    公开(公告)日：2010-08-12

    申请号：US12526287

    申请日：2008-02-20

    申请人： Anne Philippi ,  Jorg Hager ,  Francis Rousseau

    发明人： Anne Philippi ,  Jorg Hager ,  Francis Rousseau

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/172

    摘要： The present invention relates to a diagnostic method of determining whether a subject, preferably an obese subject, is at risk of developing type 2 diabetes, which method comprises detecting the presence of an alteration in the PEBP4 gene locus in a biological sample of said subject.

    摘要翻译： 本发明涉及一种确定受试者，优选肥胖受试者是否处于发展中的2型糖尿病的风险的诊断方法，该方法包括检测所述受试者的生物样品中PEBP4基因座的变化的存在。

    HUMAN DIABETES SUSCEPTIBILITY SHANK2 GENE
    5.
    发明申请
    HUMAN DIABETES SUSCEPTIBILITY SHANK2 GENE 审中-公开
    人类糖尿病可疑SHANK2基因

    公开(公告)号：US20100151462A1

    公开(公告)日：2010-06-17

    申请号：US12526285

    申请日：2008-02-20

    申请人： Anne Philippi ,  Jorg Hager ,  Francis Rousseau

    发明人： Anne Philippi ,  Jorg Hager ,  Francis Rousseau

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/172

    摘要： The present invention relates to a diagnostic method of determining whether a subject is at risk of developing type 2 diabetes, which method comprises detecting the presence of an alteration in the SHANK2 gene locus in a biological sample of said subject.

    摘要翻译： 本发明涉及一种确定受试者是否处于发展中的2型糖尿病风险的诊断方法，该方法包括检测所述受试者的生物样品中SHANK2基因座中存在的改变。

    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 Susceptibility Genes Encoding a Neurotransmitter Transporter and Uses Thereof
    9.
    发明申请
    Human Autism Susceptibility Genes Encoding a Neurotransmitter Transporter and Uses Thereof 审中-公开
    人类自闭症易感基因编码神经递质转运蛋白及其用途

    公开(公告)号：US20080213765A1

    公开(公告)日：2008-09-04

    申请号：US11817291

    申请日：2006-02-27

    申请人： Anne Philippi ,  Francis Rousseau ,  Elke Roschmann

    发明人： Anne Philippi ,  Francis Rousseau ,  Elke Roschmann

    IPC分类号： C12Q1/68 ,  G01N33/53

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

    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 SLC6A1 or SLC6A11 gene on chromosome 3 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 SLC6A1 or SLC6A11 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, 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3上的SLC6A1或SLC6A11基因及其某些等位基因与自闭症易感性有关，代表治疗干预的新靶点。 本发明涉及SLC6A1或SLC6A11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，癫痫，代谢紊乱的倾向，检测，预防和/或治疗 ，免疫障碍，双相性精神疾病和其他精神和神经疾病，包括精神分裂症。

    HUMAN AUTISM SUSCEPTIBILITY GENE ENCODING A KINASE AND USES THEREOF
    10.
    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。