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公开(公告)号：US08835618B2
公开(公告)日：2014-09-16
申请号：US13209495
申请日：2011-08-15
申请人： Alexis Brice , Christophe Lucking , Patrice Denefle , Sylvain Ricard , Nacer Eddine Abbas , Sandrine Bouley
发明人： Alexis Brice , Christophe Lucking , Patrice Denefle , Sylvain Ricard , Nacer Eddine Abbas , Sandrine Bouley
CPC分类号： C12Q1/6883 , C07K16/40 , C12N9/104 , C12N9/93 , C12Q2600/156 , C12Q2600/158 , C12Q2600/16 , C12Y603/02019
摘要： The invention concerns nucleic acids coding for mutated or truncated forms of the human parkin gene, or forms comprising multiplication of exons, and the corresponding proteins and antibodies. The invention also concerns methods and kits for identifying mutations of the parkin gene, and for studying compounds for therapeutic purposes.
摘要翻译： 本发明涉及编码人parkin基因的突变形式或截短形式的核酸或包含外显子增殖的形式，以及相应的蛋白质和抗体。 本发明还涉及用于鉴定parkin基因突变的方法和试剂盒，并用于研究用于治疗目的的化合物。
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公开(公告)号：US20120064598A1
公开(公告)日：2012-03-15
申请号：US13209495
申请日：2011-08-15
申请人： Alexis Brice , Christophe Lucking , Patrice Denefle , Sylvain Ricard , Nacer Eddine Abbas , Sandrine Bouley
发明人： Alexis Brice , Christophe Lucking , Patrice Denefle , Sylvain Ricard , Nacer Eddine Abbas , Sandrine Bouley
IPC分类号： C12N9/00 , C07K16/40 , C07H21/00 , C12N5/10 , C12N5/04 , C12N1/21 , C12N1/19 , C12N15/52 , C12N15/63
CPC分类号： C12Q1/6883 , C07K16/40 , C12N9/104 , C12N9/93 , C12Q2600/156 , C12Q2600/158 , C12Q2600/16 , C12Y603/02019
摘要： The invention concerns nucleic acids coding for mutated or truncated forms of the human parkin gene, or forms comprising multiplication of exons, and the corresponding proteins and antibodies. The invention also concerns methods and kits for identifying mutations of the parkin gene, and for studying compounds for therapeutic purposes.
摘要翻译： 本发明涉及编码人parkin基因的突变形式或截短形式的核酸或包含外显子增殖的形式，以及相应的蛋白质和抗体。 本发明还涉及用于鉴定parkin基因突变的方法和试剂盒，并用于研究用于治疗目的的化合物。
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公开(公告)号：US08084198B2
公开(公告)日：2011-12-27
申请号：US11913873
申请日：2006-05-03
申请人： Detlef Kozian , Matthias Herrmann , Karl-Ernst Siegler , Jean-Francois Deleuze , Sylvain Ricard , Sandrine Mace
发明人： Detlef Kozian , Matthias Herrmann , Karl-Ernst Siegler , Jean-Francois Deleuze , Sylvain Ricard , Sandrine Mace
CPC分类号： C12Q1/6883 , C12Q1/6897 , C12Q2600/156 , C12Q2600/158
摘要： The use of the single nucleotide polymorphism (SNP) at position −(97) of the GIP gene for the identification of a cardiovascular disease or of an increased risk for developing a cardiovascular disease in a biological sample taken from an individual to be examined.
摘要翻译： 在GIP基因的位置（97）处使用单核苷酸多态性（SNP）来鉴定从被检查个体获取的生物样品中的心血管疾病或发展心血管疾病的风险增加。
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4.发明申请ANALYSIS AND USE OF PAR1 POLYMORPHISMS FOR EVALUATING THE RISK OF CARDIOVASCULAR DISEASE 失效分析和使用PAR1多态性评估心血管疾病风险公开(公告)号：US20100221714A1
公开(公告)日：2010-09-02
申请号：US12567942
申请日：2009-09-28
申请人： Detlef KOZIAN , Joerg CZECH , Karl-Ernst SIEGLER , Jean-Francois DELEUZE , Sylvain RICARD , Sandrine MACE
发明人： Detlef KOZIAN , Joerg CZECH , Karl-Ernst SIEGLER , Jean-Francois DELEUZE , Sylvain RICARD , Sandrine MACE
CPC分类号： C12Q1/6883 , C07H17/08 , C07K14/723 , C12Q2600/156
摘要： The invention relates to polynucleotide sequences comprising genetic variations of the PAR1 gene at positions 3090 and/or 3329. The occurrence of these variants in humans correlates with increased occurrence of particular cardiovascular disorders. The invention furthermore relates to methods for detecting said genetic variations for the purpose of patient diagnosis.
摘要翻译： 本发明涉及包含位点3090和/或3329上的PAR1基因的遗传变异的多核苷酸序列。人类中这些变体的发生与特定心血管疾病的增加的发生相关。 本发明还涉及用于检测用于患者诊断目的的所述遗传变异的方法。
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公开(公告)号：US20100062431A1
公开(公告)日：2010-03-11
申请号：US12300200
申请日：2007-05-09
申请人： Detlef Kozian , Matthias Herrmann , Karl-Ernst Siegler , Jean-Francois Deleuze , Sylvain Ricard , Sandrine Mace
发明人： Detlef Kozian , Matthias Herrmann , Karl-Ernst Siegler , Jean-Francois Deleuze , Sylvain Ricard , Sandrine Mace
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , G01N33/6893 , G01N2800/32
摘要： The use of the single nucleotide polymorphism (SNP) of the ADAMTS4 gene for the identification of cardiovascular and peripheral vascular disorders or of an increased risk for developing cardiovascular and peripheral vascular disorders in a biological sample taken from an individual to be examined; the use of ADAMTS4 for identifying substances active in preventing and/or treating cardiovascular and peripheral vascular disorders and methods for doing so.
摘要翻译： 使用ADAMTS4基因的单核苷酸多态性（SNP）来鉴定从被检查个体获取的生物样品中的心血管和外周血管疾病或发展为心血管和外周血管疾病的风险增加的单核苷酸多态性（SNP） 使用ADAMTS4鉴别预防和/或治疗心血管和外周血管疾病的物质及其方法。
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6.发明授权Method for the identification of a risk for a thrombogenic disorder by determining the TAFI-Ile347 polymorphism 失效通过确定TAFI-Ile347多态性来鉴定血栓形成障碍风险的方法公开(公告)号：US07560290B2
公开(公告)日：2009-07-14
申请号：US11184010
申请日：2004-04-01
申请人： Detlef Kozian , Stefan Schaefer , Bernward Schoelkens , Karl-Ernst Siegler , Jean-Francois Deleuze , Sylvain Ricard , Sandrine Mace
发明人： Detlef Kozian , Stefan Schaefer , Bernward Schoelkens , Karl-Ernst Siegler , Jean-Francois Deleuze , Sylvain Ricard , Sandrine Mace
IPC分类号： G01N33/53
CPC分类号： G01N33/6893 , Y10S436/811
摘要： The present invention is directed to a method identifying a risk for a thrombogenic disorder, to a method for selecting patients with a risk for a thrombogenic disorder, to a method for identifying a pharmaceutical for the therapy or prophylaxis of a thrombogenic disorder as well as to a method for producing a medicament and a diagnostic by employing the TAFI-Ile347 polymorphism.
摘要翻译： 本发明涉及一种鉴定血栓形成疾病风险的方法，选择患有血栓形成疾病风险的患者的方法，用于鉴定用于治疗或预防血栓形成疾病的药物的方法，以及 通过采用TAFI-Ile347多态性制备药物和诊断方法。
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公开(公告)号：US07803538B2
公开(公告)日：2010-09-28
申请号：US10869977
申请日：2004-06-17
申请人： Sandrine Mace , Sylvain Ricard , Emmanuelle Cousin , Laurent Pradier , Jésus Benavides , Jean-François Deleuze
发明人： Sandrine Mace , Sylvain Ricard , Emmanuelle Cousin , Laurent Pradier , Jésus Benavides , Jean-François Deleuze
CPC分类号： C12Q1/6883 , C12Q2600/156
摘要： The present invention relates to a method for diagnosing an individual for early onset Alzheimer's disease by measuring the presence or absence of the minor allele of the rs908832 polymorphism of the ABCA2 gene. The presence of the minor allele of the rs908832 polymorphism of the ABCA2 gene indicates that the individual may be suffering from Alzheimer's disease or exhibits an increased risk of developing Alzheimer's disease.
摘要翻译： 本发明涉及通过测定ABCA2基因的rs908832多态性的次要等位基因的存在或不存在来诊断个体的早发性阿尔茨海默病的方法。 ABCA2基因的rs908832多态性的次要等位基因的存在表明该个体可能患有阿尔茨海默氏病或表现出发展为阿尔茨海默氏病的风险增加。
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8.发明申请METHOD FOR THE IDENTIFICATION OF A RISK FOR A THROMBOGENIC DISORDER BY DETERMINING THE TAFl-lle347 POLYMORPHISM 失效通过确定TAF1-ILE47多态性来识别致病性疾病的风险的方法公开(公告)号：US20090239237A1
公开(公告)日：2009-09-24
申请号：US12474794
申请日：2009-05-29
申请人： Detlef KOZIAN , Stefan SCHAEFER , Bernward SCHOELKENS , Karl-Ernst SIEGLER , Jean-Francois DELEUZE , Sylvain RICARD , Sandrine MACE
发明人： Detlef KOZIAN , Stefan SCHAEFER , Bernward SCHOELKENS , Karl-Ernst SIEGLER , Jean-Francois DELEUZE , Sylvain RICARD , Sandrine MACE
IPC分类号： C12Q1/68
CPC分类号： G01N33/6893 , Y10S436/811
摘要： The present invention is directed to a method identifying a risk for a thrombogenic disorder including, without limitation, atrial fibrillation, stroke, prolonged intermitted neurological deficit (PRIND), transitory ischemic attack (TIA), atherosclerotic cerebrovascular disease (CVD) and/or coronary heart disease, as well as to a method for selecting patients with a risk for a thrombogenic disorder, to a method for identifying a pharmaceutical for the therapy or prophylaxis of a thrombogenic disorder as well as to a method for producing a medicament and a diagnostic by employing the TAFI-Ile347 polymorphism.
摘要翻译： 本发明涉及一种鉴定血栓形成疾病风险的方法，包括但不限于心房颤动，中风，延迟性间歇性神经功能缺损（PRIND），短暂性缺血发作（TIA），动脉粥样硬化性脑血管病（CVD）和/或冠状动脉疾病 心脏病以及用于选择具有血栓形成障碍风险的患者的方法，用于鉴定用于治疗或预防血栓形成疾病的药物的方法以及用于制备药物的方法和诊断方法 采用TAFI-Ile347多态性。
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9.发明申请Method of Diagnosis of a Predisposition to Develop Thrombotic Disease and Its Uses 失效诊断血栓形成疾病倾向的方法及其应用公开(公告)号：US20080038722A1
公开(公告)日：2008-02-14
申请号：US10592692
申请日：2005-03-16
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/156
摘要： The present invention refers to a method of diagnosis of a predisposition to develop thrombotic disease, to test systems and their use for the diagnosis of a predisposition to develop thrombotic disease, to a P2X1 promoter variant and its use for screening for an anti-thrombotic agent, and to methods for identifying an individual that can be prophylactically or therapeutically treated with an anti-thrombotic agent, or for adapting a therapeutic or prophylactic dose of an anti-thrombotic agent.
摘要翻译： 本发明涉及诊断发生血栓形成疾病的倾向，测试系统及其用于诊断倾向于发展血栓形成性疾病的用途的方法，以诊断P 启动子变体及其用于筛选抗血栓形成剂的用途，以及用于鉴定可以用抗血栓形成剂预防性或治疗性治疗的个体的方法，或用于调整治疗或预防剂量的抗血栓形成剂 血栓形成剂。
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公开(公告)号：US20070292859A1
公开(公告)日：2007-12-20
申请号：US11574839
申请日：2005-08-27
申请人： Detlef Kozian , Heinz Goegelein , Karl-Ernst Siegler , Martina Jacobs , Jean-Francois Deleuze , Sylvain Ricard , Sandrine Mace
发明人： Detlef Kozian , Heinz Goegelein , Karl-Ernst Siegler , Martina Jacobs , Jean-Francois Deleuze , Sylvain Ricard , Sandrine Mace
CPC分类号： C12Q1/6883 , C12Q2600/156
摘要： The invention concerns methods of identifying an increase in risk for coronary heart disease in an individual, wherein the presence of another amino acid than Glutaminic Acid at position 23 and/or the presence of another amino acid than Valine at position 337 in the Kir6.2 protein is determined in a sample. Moreover, probes, primers, polypeptides or polynucleotides suitable for said methods are claimed.
摘要翻译： 本发明涉及鉴定个体中冠状动脉心脏病风险增加的方法，其中在Kir6.2中存在另一个氨基酸比谷氨酸在第23位和/或存在另外一个氨基酸比缬氨酸337位置存在 在样品中测定蛋白质。 此外，要求适用于所述方法的探针，引物，多肽或多核苷酸。
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