公开(公告)号：US20070154935A1

公开(公告)日：2007-07-05

申请号：US11676374

申请日：2007-02-19

申请人： Peter Brooks ,  Elke Roschmann ,  Anne Philippi ,  Jorg Hager

发明人： Peter Brooks ,  Elke Roschmann ,  Anne Philippi ,  Jorg Hager

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6883 ,  C12Q2600/156

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 PPYR1 gene on chromosome 10 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 PPYRI 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： 本发明公开了人类肥胖易感基因的鉴定; 其可以用于诊断，预防和治疗肥胖症和相关疾病，以及用于筛选治疗活性药物。 本发明更具体地公开了10号染色体上的PPYR1基因及其某些等位基因与肥胖易感性有关，代表治疗干预的新靶点。 本发明涉及PPYRI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。

公开(公告)号：US20050123923A1

公开(公告)日：2005-06-09

申请号：US10512455

申请日：2003-05-14

申请人： Peter Brooks ,  Elke Roschmann ,  Anne Philippi ,  Jorg Hager

发明人： Peter Brooks ,  Elke Roschmann ,  Anne Philippi ,  Jorg Hager

IPC分类号： C12Q1/68 ,  C07H21/04 ,  C07K14/47 ,  C07K16/18

CPC分类号： C12Q1/6883 ,  C12Q2600/156

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 PPYR1 gene on chromosome 10 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 PPYR1 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： 本发明公开了人类肥胖易感基因的鉴定; 其可以用于诊断，预防和治疗肥胖症和相关疾病，以及用于筛选治疗活性药物。 本发明更具体地公开了10号染色体上的PPYR1基因及其某些等位基因与肥胖易感性有关，代表治疗干预的新靶点。 本发明涉及PPYR1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。

公开(公告)号：US20070134664A1

公开(公告)日：2007-06-14

申请号：US10569243

申请日：2004-08-20

申请人： Jorg Hager ,  Anne Philippi ,  Elke Roschmann

发明人： Jorg Hager ,  Anne Philippi ,  Elke Roschmann

IPC分类号： A61K31/365 ,  C12Q1/68

CPC分类号： C12Q1/6883 ,  A61K38/1709 ,  C07K14/47 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/172 ,  G01N33/5008 ,  G01N33/5023 ,  G01N33/5058 ,  G01N33/5091

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 SLC6A7 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 SLC6A7 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.

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SLC6A7基因及其某些等位基因与自闭症的易感性相关，并且代表治疗干预的新靶标。 本发明涉及SLC6A7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， 双相性疾病等精神病和神经系统疾病。

公开(公告)号：US20090208482A1

公开(公告)日：2009-08-20

申请号：US11719831

申请日：2005-11-21

申请人： Anne Philippi ,  Francis Rousseau ,  Elke Roschmann

发明人： Anne Philippi ,  Francis Rousseau ,  Elke Roschmann

IPC分类号： A61K39/395 ,  C12Q1/68 ,  A61K38/00 ,  A61K31/7088

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

摘要： The present invention more particularly discloses the identification of a human obesity susceptibility gene, which can be used for the diagnosis, prevention and treatment of obesity and associated disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses certain alleles of the contactin associated protein-like 2 (CNTNAP2) gene related to susceptibility to obesity and representing novel targets for therapeutic intervention. The present invention relates to particular mutations in the CNTNAP2 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 but not limited to hypoalphalipoproteinemia, familial combined hyperlipidemia, insulin resistant syndrome X or multiple metabolic disorder, coronary artery disease, diabetes and associated complications and dyslipidemia.

摘要翻译： 本发明更具体地公开了可用于诊断，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与肥胖易感性相关的接触蛋白相关蛋白样2（CNTNAP2）基因的某些等位基因并且代表治疗性干预的新靶标。 本发明涉及CNTNAP2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性疾病的倾向性，检测，预防和/或治疗，包括但不限于低脂蛋白血症，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 ，糖尿病及相关并发症和血脂异常。

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。

公开(公告)号：US20090148430A1

公开(公告)日：2009-06-11

申请号：US11719827

申请日：2005-11-21

申请人： Anne Philippi ,  Francis Rousseau ,  Elke Roschmann

发明人： Anne Philippi ,  Francis Rousseau ,  Elke Roschmann

IPC分类号： A61K38/46 ,  C12Q1/68 ,  A61P3/04

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

摘要： The present invention more particularly discloses the identification of human obesity susceptibility genes, which can be used for the diagnosis, prevention and treatment of obesity ant associated disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses certain alleles of potassium voltage-gated channel (E.CNA) genes related to susceptibility to obesity and representing novel targets for therapeutic intervention. More particularly, the potassium volt-age-gated channel (KCNA) genes are located on chromosome 12 and are selected from the group consisting of KCNA1, KCNA5 and KCNA6. The present invention relates to particular mutations in the KCNA1, KCNA5 and KCNA6 genes and their 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 but not limited to hypoalphalipoproteinemia, familial combined hyperlipidemia, insulin resistant syndrome X or multiple metabolic disorder, coronary artery disease, diabetes and associated complications and dyslipidemia.

摘要翻译： 本发明更具体地公开了可用于诊断，预防和治疗肥胖症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与肥胖易感性相关的钾电压门控通道（E.CNA）基因的某些等位基因，并且代表治疗性干预的新靶标。 更具体地，钾电压门控通道（KCNA）基因位于染色体12上，并且选自KCNA1，KCNA5和KCNA6。 本发明涉及KCNA1，KCNA5和KCNA6基因及其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性疾病的倾向性，检测，预防和/或治疗，包括但不限于低脂蛋白血症，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 ，糖尿病及相关并发症和血脂异常。

公开(公告)号：US20080286765A1

公开(公告)日：2008-11-20

申请号：US11569223

申请日：2005-06-14

申请人： Anne Philippi ,  Francis Rousseau ,  Elke Roschmann

发明人： Anne Philippi ,  Francis Rousseau ,  Elke Roschmann

IPC分类号： C12Q1/68

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

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 TAS1R1 gene on chromosome 1 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 TAS1R1 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 dyslipidemia.

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1上的TAS1R1基因及其某些等位基因与肥胖易感性有关，代表治疗干预的新靶点。 本发明涉及TAS1R1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）的倾向性，检测，预防和/或治疗 。

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。

公开(公告)号：US20080193923A1

公开(公告)日：2008-08-14

申请号：US11569193

申请日：2005-06-14

申请人： Anne Philippi ,  Francis Rousseau ,  Elke Roschmann

发明人： Anne Philippi ,  Francis Rousseau ,  Elke Roschmann

IPC分类号： C12Q1/68

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

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 KCNAB2 gene on chromosome 1 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 KCNAB2 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 dyslipidemia.

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1上的KCNAB2基因及其某些等位基因与肥胖易感性有关，代表治疗干预的新靶点。 本发明涉及KCNAB2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）的倾向性，检测，预防和/或治疗 。

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。