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1.发明授权Method and device for the detection of mutations in isolated gene sequences of the low-density lipoprotein receptor (LDL-r) which is associated with familial hypercholesterolemia 有权用于检测与家族性高胆固醇血症相关的低密度脂蛋白受体（LDL-r）的分离基因序列中的突变的方法和装置公开(公告)号：US08669049B1
公开(公告)日：2014-03-11
申请号：US10542937
申请日：2004-01-21
申请人： Pedro Mata Lopez , Rodrigo Alberto Alonso Karlezi , Pilar Mozas Alonso , Gilberto Reyes Leal , Miguel Pocovi Mieras , Sergio Castillo Fernandez , Diego Tejedor Hernandez , Antonio Martinez Martinez , Miguel Mallen Perez
发明人： Pedro Mata Lopez , Rodrigo Alberto Alonso Karlezi , Pilar Mozas Alonso , Gilberto Reyes Leal , Miguel Pocovi Mieras , Sergio Castillo Fernandez , Diego Tejedor Hernandez , Antonio Martinez Martinez , Miguel Mallen Perez
CPC分类号： C12Q1/6883 , C12Q2600/156
摘要： The invention relates to extracorporeal methods of analyzing the presence or absence of mutations which cause familial hypercholesterolemia. The inventive methods describe the way in which said mutations can be detected using a DNA sample from an individual and comprising the following: chain reaction of the polymerase with primers which are complementary to the low-density lipoprotein receptor gene; analysis of the amplified product by sequencing; restriction analysis; single strand conformation polymorphism techniques; heteroduplex analysis and analysis of a device on top of a biochip glass support on which oligonucleotide probes are disposed, which can be used to detect the aforementioned mutations in the DNA.
摘要翻译： 本发明涉及分析引起家族性高胆固醇血症的突变的存在或不存在的体外方法。 本发明的方法描述了使用来自个体的DNA样品可以检测所述突变的方式，其包括以下：聚合酶与低密度脂蛋白受体基因互补的引物的链式反应; 通过测序分析扩增产物; 限制分析; 单链构象多态性技术; 异源二聚体分析和分析在其上设置有寡核苷酸探针的生物芯片玻璃载体上的装置，其可用于检测DNA中的上述突变。
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公开(公告)号：US07914990B2
公开(公告)日：2011-03-29
申请号：US11813646
申请日：2006-01-12
申请人： Laureano Simon Buela , Antonio Martinez Martinez , Diego Tejedor Hernandez , Elisa Jimenez Uribe , Monica Lopez Martinez , Marta Artieda Osenalde , Lorena Hernandez Garcia
发明人： Laureano Simon Buela , Antonio Martinez Martinez , Diego Tejedor Hernandez , Elisa Jimenez Uribe , Monica Lopez Martinez , Marta Artieda Osenalde , Lorena Hernandez Garcia
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6881 , C12Q1/6837 , C12Q1/6883 , C12Q1/6888 , C12Q2600/156 , C12Q2600/16 , G06F19/00 , Y02A90/26
摘要： An in vitro method for genotyping genetic variations in a individual, and products for use in the method.
摘要翻译： 用于个体遗传变异的基因分型的体外方法和用于该方法的产品。
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公开(公告)号：USD765338S1
公开(公告)日：2016-08-30
申请号：US29556067
申请日：2016-02-26
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4.发明授权STXBP1 overexpressing mouse and its uses in screening of treatments for neuropsychiatric illness 有权STXBP1过度表达小鼠及其在筛选神经精神疾病治疗中的应用公开(公告)号：US09267151B2
公开(公告)日：2016-02-23
申请号：US13059938
申请日：2009-08-18
申请人： Maria Jose Guerrero Martinez , Laureano Simon Buela , Marcel Ferrer-Alcon , Antonio Martinez Martinez , Jose Javier Meana , Luis Felipe Callado , Leyre Uriguen
发明人： Maria Jose Guerrero Martinez , Laureano Simon Buela , Marcel Ferrer-Alcon , Antonio Martinez Martinez , Jose Javier Meana , Luis Felipe Callado , Leyre Uriguen
IPC分类号： A01K67/027 , G01N33/00 , C12N15/85
CPC分类号： C12N15/8509 , A01K67/027 , A01K2217/052 , A01K2227/105 , A01K2267/03
摘要： A non-human transgenic animal having a polynucleotide encoding an STXBP1 polypeptide, which polynucleotide is operably linked to a promoter, wherein said transgenic animal has greater than wild-type expression of the STXBP1 polypeptide in at least one brain region, as well as related vectors, methods of producing transgenic animals, in vitro and in vivo screening methods for potential therapeutic agents, and methods for treating and diagnosing neuropsychiatric illness are disclosed.
摘要翻译： 具有编码STXBP1多肽的多核苷酸的非人转基因动物，所述多核苷酸可操作地连接至启动子，其中所述转基因动物在至少一个脑区域具有大于STXBP1多肽的野生型表达，以及相关载体 公开了生产转基因动物的方法，潜在治疗剂的体外和体内筛选方法以及治疗和诊断神经精神疾病的方法。
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公开(公告)号：US20130280171A1
公开(公告)日：2013-10-24
申请号：US13997069
申请日：2011-12-22
IPC分类号： A61K49/00 , A61K39/395
CPC分类号： G01N33/6893 , A61K39/3955 , A61K49/00 , C07K16/241 , C07K2317/21 , C07K2317/24 , G01N33/564 , G01N33/6854 , G01N33/9493 , G01N2333/525 , G01N2800/102 , G01N2800/24 , G01N2800/52 , G06F19/325 , G06F19/3468 , G16H20/17 , G16H40/20 , Y02A90/26
摘要： The invention relates to the field of personalized therapy and, in particular, to a method for classifying a patient suffering from rheumatoid arthritis as a responder or as a non-responder patient to a treatment based on a biological drug.
摘要翻译： 本发明涉及个性化治疗领域，特别涉及一种将类风湿性关节炎患者作为应答者或作为无反应者的患者分类为基于生物药物的治疗的方法。
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6.发明申请Non-Invasive in Vitro Method to Detect Transitional Cell Carcinoma of the Bladder 审中-公开非侵入性体外检测膀胱移行细胞癌的方法公开(公告)号：US20090209431A1
公开(公告)日：2009-08-20
申请号：US12083446
申请日：2006-10-10
申请人： Ana Soloaga Villoch , Jose Luis Castrillo Diez , Inma Ramos Rodriguez , Kepa Escuredo Garcia-Galdeano , Antonio Martinez Martinez , Laureano Simon Buela
发明人： Ana Soloaga Villoch , Jose Luis Castrillo Diez , Inma Ramos Rodriguez , Kepa Escuredo Garcia-Galdeano , Antonio Martinez Martinez , Laureano Simon Buela
IPC分类号： C40B30/00 , G01N33/574 , G01N33/53 , C12Q1/02
CPC分类号： G01N33/57407 , G01N2800/52
摘要： The present invention refers to a non-invasive in vitro method to detect a transitional cell carcinoma of the bladder in an individual via urine analysis, to determine the stage or severity of this cancer in an individual or to monitor the effect of treatment administered to an individual suffering from this cancer.
摘要翻译： 本发明涉及通过尿液分析检测个体中膀胱移行细胞癌的非侵入性体外方法，以确定个体中该癌症的阶段或严重程度，或监测施用于患者的治疗效果 个体患有这种癌症。
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7.发明申请公开(公告)号：US20080113347A1
公开(公告)日：2008-05-15
申请号：US10596857
申请日：2004-12-28
申请人： Ainara Vallejo Illarramendi , Antonio Martinez Martinez , Usue Ariz Lopez de Castro , Lourdes Osaba Ortiz de Mendibil , Corina Junquera Sanchez-Vallejo , Simon Santa Cruz , Pedro Escudero Garcia de Galdeano , Jorge Ochoa Garay , Laureano Simon Buela , Carlos Matute Almau , Elena Alberdi Alfonso , Maria Victoria Sanchez Gomez , Gaskon Ibarretxe Bilbao , Estibaliz Etxebarria Galnares
发明人： Ainara Vallejo Illarramendi , Antonio Martinez Martinez , Usue Ariz Lopez de Castro , Lourdes Osaba Ortiz de Mendibil , Corina Junquera Sanchez-Vallejo , Simon Santa Cruz , Pedro Escudero Garcia de Galdeano , Jorge Ochoa Garay , Laureano Simon Buela , Carlos Matute Almau , Elena Alberdi Alfonso , Maria Victoria Sanchez Gomez , Gaskon Ibarretxe Bilbao , Estibaliz Etxebarria Galnares
CPC分类号： C12N9/16 , C12Q1/42 , G01N33/5088 , G01N33/564 , G01N2800/285
摘要： The present invention refers to an in vitro method for detecting the presence of demyelinating diseases in an individual, for determining the stage or severity of said diseases in the individual, or for monitoring the effect of the therapy administered to an individual suffering said diseases; to the search, identification, development and evaluation of efficacy of compounds for therapy of said diseases for the purpose of developing new drugs; as well as to agents inhibiting DUSP6 protein expression and/or activity, and/or the effects of this expression. The methods and agents of the invention are preferably applied to multiple sclerosis.
摘要翻译： 本发明涉及用于检测个体中脱髓鞘疾病的存在的体外方法，用于确定个体中所述疾病的阶段或严重程度，或用于监测施用于患有所述疾病的个体的治疗效果; 用于研究，鉴定，开发和评估化合物治疗所述疾病以开发新药物的功效; 以及抑制DUSP6蛋白表达和/或活性的药剂，和/或该表达的作用。 本发明的方法和试剂优选应用于多发性硬化。
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公开(公告)号：USD726989S1
公开(公告)日：2015-04-14
申请号：US29490288
申请日：2014-05-08
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9.发明授权Detection of endometrial secretion markers for assessment of endometriosis 失效检测子宫内膜分泌标志物用于评估子宫内膜异位症公开(公告)号：US08679769B2
公开(公告)日：2014-03-25
申请号：US12811159
申请日：2008-11-26
CPC分类号： G01N33/689 , G01N2333/4712 , G01N2333/4718 , G01N2333/775 , G01N2333/904 , G01N2333/924 , G01N2800/364
摘要： The present invention refers to a group of biomarkers and to non-invasive in vitro methods for the diagnosis or prognosis of endometriosis, as well as to a kit to perform said methods.
摘要翻译： 本发明涉及一组生物标志物和用于子宫内膜异位症诊断或预后的非侵入性体外方法，以及执行所述方法的试剂盒。
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10.发明申请STXBP1 AS PSYCHIATRIC BIOMARKER IN MURINE MODEL SYSTEM AND THEIR USES 有权STXBP1作为MURINE模型系统中的PSYCHIATRIC BIOMARKER及其用途公开(公告)号：US20110268747A1
公开(公告)日：2011-11-03
申请号：US13059938
申请日：2009-08-18
申请人： Maria Jose Guerrero Martinez , Laureano Simon Buela , Marcel Ferrer-Alcon , Antonio Martinez Martinez , Jose Javier Meana , Luis Felipe Callado , Leyre Uriguen
发明人： Maria Jose Guerrero Martinez , Laureano Simon Buela , Marcel Ferrer-Alcon , Antonio Martinez Martinez , Jose Javier Meana , Luis Felipe Callado , Leyre Uriguen
IPC分类号： A61K39/395 , C12N15/85 , A61P25/18 , A61K31/713 , A61K31/7084 , A61P25/00 , A01K67/027 , A61K49/00
CPC分类号： C12N15/8509 , A01K67/027 , A01K2217/052 , A01K2227/105 , A01K2267/03
摘要： A non-human transgenic animal having a polynucleotide encoding an STXBP1 polypeptide, which polynucleotide is operably linked to a promoter, wherein said transgenic animal has greater than wild-type expression of the STXBP1 polypeptide in at least one brain region, as well as related vectors, methods of producing transgenic animals, in vitro and in vivo screening methods for potential therapeutic agents, and methods for treating and diagnosing neuropsychiatric illness are disclosed.
摘要翻译： 具有编码STXBP1多肽的多核苷酸的非人转基因动物，所述多核苷酸可操作地连接至启动子，其中所述转基因动物在至少一个脑区域具有大于STXBP1多肽的野生型表达，以及相关载体 公开了生产转基因动物的方法，潜在治疗剂的体外和体内筛选方法以及治疗和诊断神经精神疾病的方法。
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