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公开(公告)号：US08796182B2
公开(公告)日：2014-08-05
申请号：US13382620
申请日：2010-07-09
申请人： Valgerdur Steinthorsdottir , Gudmar Thorleifsson , Daniel Gudbjartsson , Gisli Masson , Augustine Kong
发明人： Valgerdur Steinthorsdottir , Gudmar Thorleifsson , Daniel Gudbjartsson , Gisli Masson , Augustine Kong
CPC分类号： C12Q1/6883 , C12Q2600/118 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172
摘要： The invention relates to variants that predispose to risk of type 2 diabetes, basal cell carcinoma and breast cancer. It has been discovered that certain genetic variants confer risk of these diseases when inherited from one parent, but not the other. The invention provides methods of disease management, including diagnostic methods, utilizing such parental origin effects.
摘要翻译： 本发明涉及易患2型糖尿病，基底细胞癌和乳腺癌风险的变体。 已经发现，某些遗传变异体在遗传于一种亲本而不是另一种亲本时会引起这些疾病的风险。 本发明提供了疾病管理方法，包括利用这种亲本起源作用的诊断方法。
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公开(公告)号：US20100086921A1
公开(公告)日：2010-04-08
申请号：US12442233
申请日：2007-11-30
CPC分类号： C12Q1/6883 , C12Q2600/106 , C12Q2600/118 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172
摘要： Association analysis has shown that certain genetic variants are susceptibility variants for Type 2 diabetes. The invention relates to diagnostic applications of such susceptibility variants, including methods of determining increased susceptibility to Type 2 diabetes, as well as methods of determining decreased susceptibility to Type 2 diabetes in an individual. The invention further relates to kits for determining a susceptibility to Type 2 diabetes based on the variants described herein.
摘要翻译： 关联分析表明，某些遗传变异体是2型糖尿病的易感性变异体。 本发明涉及这种敏感性变体的诊断应用，包括确定增加的对2型糖尿病的易感性的方法，以及确定个体对2型糖尿病易感性降低的方法。 本发明还涉及用于基于本文所述变体确定对2型糖尿病易感性的试剂盒。
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公开(公告)号：US20120220477A1
公开(公告)日：2012-08-30
申请号：US13382620
申请日：2010-07-09
申请人： Valgerdur Steinthorsdottir , Gudmar Thorleifsson , Daniel Gudbjartsson , Gisli Masson , Augustine Kong
发明人： Valgerdur Steinthorsdottir , Gudmar Thorleifsson , Daniel Gudbjartsson , Gisli Masson , Augustine Kong
CPC分类号： C12Q1/6883 , C12Q2600/118 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172
摘要： The invention relates to variants that predispose to risk of type 2 diabetes, basal cell carcinoma and breast cancer. It has been discovered that certain genetic variants confer risk of these diseases when inherited from one parent, but not the other. The invention provides methods of disease management, including diagnostic methods, utilizing such parental origin effects.
摘要翻译： 本发明涉及易患2型糖尿病，基底细胞癌和乳腺癌风险的变体。 已经发现，某些遗传变异体在遗传于一种亲本而不是另一种亲本时会引起这些疾病的风险。 本发明提供了疾病管理方法，包括利用这种亲本起源作用的诊断方法。
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公开(公告)号：US20050208527A1
公开(公告)日：2005-09-22
申请号：US10995011
申请日：2004-11-22
申请人： Hreinn Stefansson , Valgerdur Steinthorsdottir , Jeffrey Gulcher , Mark Gurney , Thorkell Andresson
发明人： Hreinn Stefansson , Valgerdur Steinthorsdottir , Jeffrey Gulcher , Mark Gurney , Thorkell Andresson
CPC分类号： C07K14/4756 , A01K67/0276 , A01K2217/05 , A01K2227/105 , A01K2267/0356 , A61K38/00 , C07K2319/00 , C12Q1/6883 , C12Q2600/156 , C12Q2600/172 , G01N2500/04 , G01N2800/2835
摘要： Nucleic acids comprising the neuregulin 1 gene (NRG1) and encoding NRG1 polypeptides are disclosed. Also described are related nucleic acids encoding NRG1 polypeptides; NRG1 polypeptides; antibodies that bind to NRG1 polypeptides; methods of diagnosis of susceptibility to schizophrenia; assays for agents that alter the activity of NRG1 polypeptide or which identify NRG1 binding agents, and the agents or binding agents identified by the assays; NRG1 therapeutic agents, including the NRG1 nucleic acids, NRG1 polypeptides, or agents that alter the activity of an NRG1 polypeptides; pharmaceutical compositions comprising the NRG1 therapeutic agents; as well as methods of therapy of schizophrenia. Novel haplotypes with a common core haplotype in affected individuals are described, as well as their use in methods for screening for susceptibility to schizophrenia. Also described are hypomorphic mice for use in identifying phenotypes associated with schizophrenia, as well as for use in assessing agents of interest for neuroleptic activity and for potential therapeutic use for treatment of schizophrenia.
摘要翻译： 公开了包含神经调节蛋白1基因（NRG1）和编码NRG1多肽的核酸。 还描述了编码NRG1多肽的相关核酸; NRG1多肽; 结合NRG1多肽的抗体; 精神分裂症易感性诊断方法; 用于改变NRG1多肽的活性或鉴定NRG1结合剂的试剂的测定法和通过测定鉴定的试剂或结合剂; NRG1治疗剂，包括NRG1核酸，NRG1多肽或改变NRG1多肽活性的试剂; 包含NRG1治疗剂的药物组合物; 以及精神分裂症治疗方法。 描述了在受影响个体中具有共同核心单体型的新型单元型，以及它们在筛选易感性精神分裂症的方法中的用途。 还描述了用于鉴定与精神分裂症相关的表型的同型小鼠，以及用于评估精神兴奋活性感兴趣的药物和用于治疗精神分裂症的潜在治疗用途。
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公开(公告)号：US07495147B2
公开(公告)日：2009-02-24
申请号：US10107604
申请日：2002-03-26
申请人： Hreinn Stefansson , Valgerdur Steinthorsdottir , Jeffrey R. Gulcher , Mark Gurney , Thorkell Andresson
发明人： Hreinn Stefansson , Valgerdur Steinthorsdottir , Jeffrey R. Gulcher , Mark Gurney , Thorkell Andresson
IPC分类号： G01N33/00 , A01K67/00 , A01K67/027
CPC分类号： C07K14/4756 , A01K67/0276 , A01K2217/05 , A01K2227/105 , A01K2267/0356 , A61K38/00 , A61K38/179 , C07K14/47 , C07K2319/00 , C12Q1/6883 , C12Q2600/156 , G01N33/6893 , G01N2500/04 , G01N2800/2835 , G01N2800/302
摘要： Nucleic acids comprising the neuregulin 1 gene (NRG1) and encoding NRG1 polypeptides are disclosed. Also described are related nucleic acids encoding NRG1 polypeptides; NRG1 polypeptides; antibodies that bind to NRG1 polypeptides; methods of diagnosis of susceptibility to schizophrenia; assays for agents that alter the activity of NRG1 polypeptide or which identify NRG1 binding agents, and the gents or binding agents identified by the assays; NRG1 therapeutic agents, including the NRG1 nucleic acids, NRG1 polypeptides, or agents that alter the activity of an NRG1 polypeptides; pharmaceutical compositions comprising the NRG1 therapeutic agents; as well as methods of therapy of schizophrenia. Novel haplotypes with a common core haplotype in affected individuals are described, as well as their use in methods for screening for susceptibility to schizophrenia. Also described are hypomorphic mice for use in identifying phenotypes associated with schizophrenia, as well as for use in assessing agents of interest for neuroleptic activity and for potential therapeutic use for treatment of schizophrenia.
摘要翻译： 公开了包含神经调节蛋白1基因（NRG1）和编码NRG1多肽的核酸。 还描述了编码NRG1多肽的相关核酸; NRG1多肽; 结合NRG1多肽的抗体; 精神分裂症易感性诊断方法; 用于改变NRG1多肽的活性或鉴定NRG1结合剂的试剂的测定法，以及通过测定鉴定的口感或结合剂; NRG1治疗剂，包括NRG1核酸，NRG1多肽或改变NRG1多肽活性的试剂; 包含NRG1治疗剂的药物组合物; 以及精神分裂症治疗方法。 描述了在受影响个体中具有共同核心单体型的新型单元型，以及它们在筛选易感性精神分裂症的方法中的用途。 还描述了用于鉴定与精神分裂症相关的表型的同型小鼠，以及用于评估精神兴奋活性感兴趣的药物和用于治疗精神分裂症的潜在治疗用途。
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公开(公告)号：US20080263690A1
公开(公告)日：2008-10-23
申请号：US10107604
申请日：2002-03-26
申请人： Hreinn Stefansson , Valgerdur Steinthorsdottir , Jeffrey R. Gulcher , Mark Gurney , Thorkell Andresson
发明人： Hreinn Stefansson , Valgerdur Steinthorsdottir , Jeffrey R. Gulcher , Mark Gurney , Thorkell Andresson
IPC分类号： A01K67/027 , C12Q1/68
CPC分类号： C07K14/4756 , A01K67/0276 , A01K2217/05 , A01K2227/105 , A01K2267/0356 , A61K38/00 , A61K38/179 , C07K14/47 , C07K2319/00 , C12Q1/6883 , C12Q2600/156 , G01N33/6893 , G01N2500/04 , G01N2800/2835 , G01N2800/302
摘要： Nucleic acids comprising the neuregulin 1 gene (NRG1) and encoding NRG1 polypeptides are disclosed. Also described are related nucleic acids encoding NRG1 polypeptides; NRG1 polypeptides; antibodies that bind to NRG1 polypeptides; methods of diagnosis of susceptibility to schizophrenia; assays for agents that alter the activity of NRG1 polypeptide or which identify NRG1 binding agents, and the agents or binding agents identified by the assays; NRG1 therapeutic agents, including the NRG1 nucleic acids, NRG1 polypeptides, or agents that alter the activity of an NRG1 polypeptides; pharmaceutical compositions comprising the NRG1 therapeutic agents; as well as methods of therapy of schizophrenia. Novel haplotypes with a common core haplotype in affected individuals are described, as well as their use in methods for screening for susceptibility to schizophrenia. Also described are hypomorphic mice for use in identifying phenotypes associated with schizophrenia, as well as for use in assessing agents of interest for neuroleptic activity and for potential therapeutic use for treatment of schizophrenia.
摘要翻译： 公开了包含神经调节蛋白1基因（NRG1）和编码NRG1多肽的核酸。 还描述了编码NRG1多肽的相关核酸; NRG1多肽; 结合NRG1多肽的抗体; 精神分裂症易感性诊断方法; 用于改变NRG1多肽的活性或鉴定NRG1结合剂的试剂的测定法和通过测定鉴定的试剂或结合剂; NRG1治疗剂，包括NRG1核酸，NRG1多肽或改变NRG1多肽活性的试剂; 包含NRG1治疗剂的药物组合物; 以及精神分裂症治疗方法。 描述了在受影响个体中具有共同核心单体型的新型单元型，以及它们在筛选易感性精神分裂症的方法中的用途。 还描述了用于鉴定与精神分裂症相关的表型的同型小鼠，以及用于评估精神兴奋活性感兴趣的药物和用于治疗精神分裂症的潜在治疗用途。
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