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公开(公告)号：US07745597B2
公开(公告)日：2010-06-29
申请号：US11716050
申请日：2007-03-09
CPC分类号： C12Q1/6883 , A61K31/4174 , A61K31/69 , A61K33/24 , A61K38/00 , C07K14/705 , C12Q2600/118 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158 , G01N33/6872 , G01N2333/705 , G01N2500/04 , G01N2800/347 , G01N2800/52
摘要： Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology and up to 20% of patients on dialysis have this diagnosis. A large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion channel protein Transient Receptor Potential Cation Channel 6. The missense mutation is a P112Q substitution, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II, and alters the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest a novel mechanism for glomerular disease pathogenesis.
摘要翻译： 局灶性和节段性肾小球硬化（FSGS）是一种未知病因的肾脏疾病，多达20％的透析患者有这种诊断。 具有遗传性FSGS的大家族在染色体11q上的TRPC6基因中携带错义突变，编码离子通道蛋白瞬时受体电位阳离子通道6.错义突变是P112Q取代，其发生在蛋白质的高度保守的区域中，增强 TRPC6介导的钙信号响应于激动剂如血管紧张素II，并改变TRPC6蛋白的细胞内分布。 以前的工作已经强调了细胞骨架和结构蛋白在蛋白尿肾脏疾病中的重要性。 我们的研究结果表明肾小球疾病发病机制。
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公开(公告)号：US09433642B2
公开(公告)日：2016-09-06
申请号：US12782075
申请日：2010-05-18
IPC分类号： A61K33/24 , C07K14/705 , C12Q1/68 , G01N33/68 , A61K38/00 , A61K31/4174 , A61K31/69
CPC分类号： C12Q1/6883 , A61K31/4174 , A61K31/69 , A61K33/24 , A61K38/00 , C07K14/705 , C12Q2600/118 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158 , G01N33/6872 , G01N2333/705 , G01N2500/04 , G01N2800/347 , G01N2800/52
摘要： Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology and up to 20% of patients on dialysis have this diagnosis. A large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion channel protein Transient Receptor Potential Cation Channel 6. The missense mutation is a P112Q substitution, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II, and alters the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest a novel mechanism for glomerular disease pathogenesis.
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公开(公告)号：US08206922B2
公开(公告)日：2012-06-26
申请号：US12731406
申请日：2010-03-25
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/172
摘要： Methods are described for screening a subject for risk of Charcot-Marie-Tooth Disease Type 2A or for diagnosing Charcot-Marie-Tooth disease or a predisposition for developing Charcot-Marie-Tooth disease in a subject, by detecting the presence or absence of a mutation in the mitofusin gene in a biological sample collected from the subject. Methods are also described for detecting the presence of a genetic polymorphism associated with Charcot-Marie-Tooth Disease Type 2A in a sample of patient nucleic acid, by amplifying a mitofusin gene sequence in the patient nucleic acid to produce an amplification product; and identifying the presence of a Charcot-Marie-Tooth Disease Type 2A associated polymorphism in the amplification product.
摘要翻译： 描述了用于筛选患有Charcot-Marie-Tooth Disease 2A型风险的受试者或用于诊断Charcot-Marie-Tooth疾病或倾向于在受试者中发展Charcot-Marie-Tooth疾病的倾向的方法，通过检测是否存在 从受试者收集的生物样品中的mitofusin基因突变。 还描述了通过扩增患者核酸中的丝裂霉素基因序列以产生扩增产物来描述用于在患者核酸样品中检测与Charcot-Marie-Tooth Disease 2A型相关的遗传多态性的存在的方法; 并鉴定扩增产物中Charcot-Marie-Tooth Disease 2A型相关多态性的存在。
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公开(公告)号：US08975020B2
公开(公告)日：2015-03-10
申请号：US13532179
申请日：2012-06-25
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/172
摘要： Methods are described for screening a subject for risk of Charcot-Marie-Tooth Disease Type 2A or for diagnosing Charcot-Marie-Tooth disease or a predisposition for developing Charcot-Marie-Tooth disease in a subject, by detecting the presence or absence of a mutation in the mitofusin gene in a biological sample collected from the subject. Methods are also described for detecting the presence of a genetic polymorphism associated with Charcot-Marie-Tooth Disease Type 2A in a sample of patient nucleic acid, by amplifying a mitofusin gene sequence in the patient nucleic acid to produce an amplification product; and identifying the presence of a Charcot-Marie-Tooth Disease Type 2A associated polymorphism in the amplification product.
摘要翻译： 描述了用于筛选患有Charcot-Marie-Tooth Disease 2A型风险的受试者或用于诊断Charcot-Marie-Tooth疾病或倾向于在受试者中发展Charcot-Marie-Tooth疾病的倾向的方法，通过检测是否存在 从受试者收集的生物样品中的mitofusin基因突变。 还描述了通过扩增患者核酸中的丝裂霉素基因序列以产生扩增产物来描述用于在患者核酸样品中检测与Charcot-Marie-Tooth Disease 2A型相关的遗传多态性的存在的方法; 并鉴定扩增产物中Charcot-Marie-Tooth Disease 2A型相关多态性的存在。
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公开(公告)号：US20120264136A1
公开(公告)日：2012-10-18
申请号：US13532179
申请日：2012-06-25
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/172
摘要： Methods are described for screening a subject for risk of Charcot-Marie-Tooth Disease Type 2A or for diagnosing Charcot-Marie-Tooth disease or a predisposition for developing Charcot-Marie-Tooth disease in a subject, by detecting the presence or absence of a mutation in the mitofusin gene in a biological sample collected from the subject. Methods are also described for detecting the presence of a genetic polymorphism associated with Charcot-Marie-Tooth Disease Type 2A in a sample of patient nucleic acid, by amplifying a mitofusin gene sequence in the patient nucleic acid to produce an amplification product; and identifying the presence of a Charcot-Marie-Tooth Disease Type 2A associated polymorphism in the amplification product.
摘要翻译： 描述了用于筛选患有Charcot-Marie-Tooth Disease 2A型风险的受试者或用于诊断Charcot-Marie-Tooth疾病或倾向于在受试者中发展Charcot-Marie-Tooth疾病的倾向的方法，通过检测是否存在 从受试者收集的生物样品中的mitofusin基因突变。 还描述了通过扩增患者核酸中的丝裂霉素基因序列以产生扩增产物来描述用于在患者核酸样品中检测与Charcot-Marie-Tooth Disease 2A型相关的遗传多态性的存在的方法; 并鉴定扩增产物中Charcot-Marie-Tooth Disease 2A型相关多态性的存在。
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6.发明申请公开(公告)号：US20090098557A1
公开(公告)日：2009-04-16
申请号：US12246068
申请日：2008-10-06
申请人： Jeffery M. Vance , Yi-Ju Li , Margaret A. Pericak-Vance , Eden R. Martin , William K. Scott , Michael A. Hauser , Jeffrey M. Stajich , Sofia Oliveira , Joelle van der Walt
发明人： Jeffery M. Vance , Yi-Ju Li , Margaret A. Pericak-Vance , Eden R. Martin , William K. Scott , Michael A. Hauser , Jeffrey M. Stajich , Sofia Oliveira , Joelle van der Walt
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/106 , C12Q2600/112 , C12Q2600/156 , C12Q2600/172
摘要： The present invention provides methods and compositions for screening a subject for Parkinson disease, for increased risk of developing Parkinson disease and/or for an earlier or later age of developing Parkinson disease, comprising detecting the presence of a genetic marker associated with Parkinson disease.
摘要翻译： 本发明提供用于筛选帕金森病受试者的方法和组合物，用于增加帕金森病发展的风险和/或发展中的帕金森病的早期或更晚年龄，包括检测与帕金森病相关的遗传标记物的存在。
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公开(公告)号：US20110070583A1
公开(公告)日：2011-03-24
申请号：US12806690
申请日：2010-08-19
申请人： Jeffery M. Vance , Pascal Goldschmidt , Elizabeth Hauser , William Kraus , Margaret A. Pericak-Vance
发明人： Jeffery M. Vance , Pascal Goldschmidt , Elizabeth Hauser , William Kraus , Margaret A. Pericak-Vance
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172
摘要： The LSAMP gene can be used for cardiovascular disease risk assessment, in particular Left Main Disease. The genetic risk attributable to LSAMP adds to known cardiovascular disease risk factors. Assessment of risk attributable to LSAMP permits early initiation of preventive and therapeutic strategies. Given the pronounced clinical risk associated with Left Main Disease, such risk assessment should significantly reduce morbidity and mortality.
摘要翻译： LSAMP基因可用于心血管疾病风险评估，特别是左主干疾病。 归因于LSAMP的遗传风险增加了已知的心血管疾病危险因素。 评估LSAMP的风险可以早日开始预防和治疗策略。 鉴于与左主干病相关的明显临床风险，这种风险评估应显着降低发病率和死亡率。
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公开(公告)号：US20100184080A1
公开(公告)日：2010-07-22
申请号：US12731406
申请日：2010-03-25
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/172
摘要： Methods are described for screening a subject for risk of Charcot-Marie-Tooth Disease Type 2A or for diagnosing Charcot-Marie-Tooth disease or a predisposition for developing Charcot-Marie-Tooth disease in a subject, by detecting the presence or absence of a mutation in the mitofusin gene in a biological sample collected from the subject. Methods are also described for detecting the presence of a genetic polymorphism associated with Charcot-Marie-Tooth Disease Type 2A in a sample of patient nucleic acid, by amplifying a mitofusin gene sequence in the patient nucleic acid to produce an amplification product; and identifying the presence of a Charcot-Marie-Tooth Disease Type 2A associated polymorphism in the amplification product.
摘要翻译： 描述了用于筛选患有Charcot-Marie-Tooth Disease 2A型风险的受试者或用于诊断Charcot-Marie-Tooth疾病或倾向于在受试者中发展Charcot-Marie-Tooth疾病的倾向的方法，通过检测是否存在 从受试者收集的生物样品中的mitofusin基因突变。 还描述了通过扩增患者核酸中的丝裂霉素基因序列以产生扩增产物来描述用于在患者核酸样品中检测与Charcot-Marie-Tooth Disease 2A型相关的遗传多态性的存在的方法; 并鉴定扩增产物中Charcot-Marie-Tooth Disease 2A型相关多态性的存在。
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9.发明授权Methods for identifying an individual at increased risk of developing coronary artery disease 有权确定发生冠状动脉疾病风险增加的个体的方法公开(公告)号：US08097415B2
公开(公告)日：2012-01-17
申请号：US12888937
申请日：2010-09-23
申请人： Jeffery M. Vance , Pascal J. Goldschmidt , Simon G. Gregory , William E. Kraus , Elizabeth R. Hauser
发明人： Jeffery M. Vance , Pascal J. Goldschmidt , Simon G. Gregory , William E. Kraus , Elizabeth R. Hauser
CPC分类号： C12Q1/6883 , C12Q2600/106 , C12Q2600/118 , C12Q2600/156 , C12Q2600/172 , G06F19/18
摘要： The present invention provides methods of identifying a subject having an increased or decreased risk of developing cardiovascular disease, comprising: a) correlating the presence of one or more genetic markers in chromosome 3q13.31 with an increased or decreased risk of developing cardiovascular disease; and b) detecting the one or more genetic markers of step (a) in the subject, thereby identifying the subject as having an increased or decreased risk of developing cardiovascular disease. Also provided are methods of identifying subjects with cardiovascular disease as having a good or poor prognosis, as well as methods of identifying effective treatment regimens for cardiovascular disease, based on correlation with genetic markers in chromosome 3q13.31.
摘要翻译： 本发明提供鉴定发生心血管疾病风险增加或降低的受试者的方法，其包括：a）将染色体3q13.31中的一种或多种遗传标记的存在与发生心血管疾病的风险增加或降低相关联; 和b）检测受试者中步骤（a）的一种或多种遗传标记，从而将受试者鉴定为发生心血管疾病的风险增加或降低。 还提供了基于与染色体3q13.31中的遗传标记的相关性来鉴定具有心血管疾病的受试者具有良好或不良预后的方法，以及鉴定心血管疾病的有效治疗方案的方法。
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10.发明申请METHODS AND COMPOSITIONS FOR CORRELATING GENETIC MARKERS WITH CARDIOVASCULAR DISEASE 有权用于与心血管疾病相关的遗传标记物的方法和组合物公开(公告)号：US20090087844A1
公开(公告)日：2009-04-02
申请号：US12031528
申请日：2008-02-14
申请人： Jeffery M. Vance , Pascal J. Goldschmidt , Simon G. Gregory , William E. Kraus , Elizabeth R. Hauser
发明人： Jeffery M. Vance , Pascal J. Goldschmidt , Simon G. Gregory , William E. Kraus , Elizabeth R. Hauser
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/106 , C12Q2600/156 , C12Q2600/172 , G06F19/18
摘要： The present invention provides methods of identifying a subject having an increased or decreased risk of developing cardiovascular disease, comprising: a) correlating the presence of one or more genetic markers in chromosome 3q13.31 with an increased or decreased risk of developing cardiovascular disease; and b) detecting the one or more genetic markers of step (a) in the subject, thereby identifying the subject as having an increased or decreased risk of developing cardiovascular disease. Also provided are methods of identifying subjects with cardiovascular disease as having a good or poor prognosis, as well as methods of identifying effective treatment regimens for cardiovascular disease, based on correlation with genetic markers in chromosome 3q13.31.
摘要翻译： 本发明提供鉴定发生心血管疾病风险增加或降低的受试者的方法，其包括：a）将染色体3q13.31中的一种或多种遗传标记的存在与发生心血管疾病的风险增加或降低相关联; 和b）检测受试者中步骤（a）的一种或多种遗传标记，从而将受试者鉴定为发生心血管疾病的风险增加或降低。 还提供了基于与染色体3q13.31中的遗传标记的相关性来鉴定具有心血管疾病的受试者具有良好或不良预后的方法，以及鉴定心血管疾病的有效治疗方案的方法。
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