CACNA1C nucleic acid mutations as indicators of shorter than normal QT interval and ST segment elevation associated with sudden cardiac death
    1.
    发明授权
    CACNA1C nucleic acid mutations as indicators of shorter than normal QT interval and ST segment elevation associated with sudden cardiac death 有权
    CACNA1C核酸突变作为指标短于正常QT间期和ST段抬高与心源性猝死相关

    公开(公告)号:US07833718B2

    公开(公告)日:2010-11-16

    申请号:US11983005

    申请日:2007-11-06

    摘要: Previously unknown mutations of the CACNA1C and CACNB2b genes are disclosed which are involved in ion channel disruptions associated with shorter than normal QT interval and ST segment elevation syndrome. These mutations are utilized to diagnose and screen for shorter than normal QT interval and ST segment elevation syndrome, thus providing modalities for diagnosing syncope and/or sudden cardiac death and/or predicting susceptibility to syncope and/or sudden cardiac death. Nucleic acid probes are provided which selectively hybridize to the mutant nucleic acids described herein. Antibodies are provided which selectively bind to the mutant polypeptides described herein. The mutations described herein are also utilized to screen for compounds useful in treating the symptoms manifest by such mutations.

    摘要翻译: 公开了以前未知的CACNA1C和CACNB2b基因突变,其涉及与正常QT间期和ST段抬高综合征相关的离子通道中断。 这些突变用于诊断和筛选比正常QT间期和ST段抬高综合征更短的诊断和筛查,从而提供诊断晕厥和/或心脏猝死和/或预测晕厥易感性和/或心脏猝死的方法。 提供核酸探针,其与本文所述的突变核酸选择性杂交。 提供了选择性结合本文所述突变体多肽的抗体。 本文所述的突变也用于筛选可用于治疗由这种突变显示的症状的化合物。

    Mutations in ion channel proteins associated with sudden cardiac death
    3.
    发明授权
    Mutations in ion channel proteins associated with sudden cardiac death 有权
    与心脏猝死相关的离子通道蛋白质的突变

    公开(公告)号:US07537928B2

    公开(公告)日:2009-05-26

    申请号:US10924375

    申请日:2004-08-23

    IPC分类号: C12N15/11 C12N15/63 C12N5/10

    摘要: Previously unknown mutations of the KCNH2, SCN5A and KCNQ1 genes are disclosed which are involved in ion channel disruptions associated with short QT syndrome, long QT syndrome, Brugada syndrome and progressive conduction disease. These mutations are utilized to diagnose and screen for short QT syndrome, long QT syndrome, Brugada syndrome and progressive conduction disease, thus providing modalities for diagnosing sudden cardiac death and/or predicting susceptibility to sudden cardiac death. Nucleic acid probes are provided which selectively hybridize to the mutant nucleic acids described herein. Antibodies are provided which selectively bind to the mutant proteins described herein. The mutations described herein are also utilized to screen for compounds useful in treating the symptoms manifest by such mutations.

    摘要翻译: 公开了KCNH2,SCN5A和KCNQ1基因的以前未知突变,其涉及与短QT综合征,长QT综合征,Brugada综合征和进行性传导疾病相关的离子通道中断。 这些突变用于诊断和筛选短QT综合征,长QT综合征,Brugada综合征和进行性传导疾病,从而提供诊断心源性猝死和/或预测心源性猝死易感性的方式。 提供核酸探针,其与本文所述的突变核酸选择性杂交。 提供了选择性结合本文所述突变蛋白的抗体。 本文所述的突变也用于筛选可用于治疗由这种突变显示的症状的化合物。

    MUTATIONS IN ION CHANNEL PROTEINS ASSOCIATED WITH SUDDEN CARDIAC DEATH
    5.
    发明申请
    MUTATIONS IN ION CHANNEL PROTEINS ASSOCIATED WITH SUDDEN CARDIAC DEATH 失效
    离子通道蛋白质与SUDDEN CARDIAC死亡相关的突变

    公开(公告)号:US20090317905A1

    公开(公告)日:2009-12-24

    申请号:US12413735

    申请日:2009-03-30

    IPC分类号: C12N5/06 C12N15/11 C12N15/00

    摘要: Previously unknown mutations of the KCNH2, SCN5A and KCNQ1 genes are disclosed which are involved in ion channel disruptions associated with short QT syndrome, long QT syndrome, Brugada syndrome and progressive conduction disease. These mutations are utilized to diagnose and screen for short QT syndrome, long QT syndrome, Brugada syndrome and progressive conduction disease, thus providing modalities for diagnosing sudden cardiac death and/or predicting susceptibility to sudden cardiac death. Nucleic acid probes are provided which selectively hybridize to the mutant nucleic acids described herein. Antibodies are provided which selectively bind to the mutant proteins described herein. The mutations described herein are also utilized to screen for compounds useful in treating the symptoms manifest by such mutations.

    摘要翻译: 公开了KCNH2,SCN5A和KCNQ1基因的以前未知突变,其涉及与短QT综合征,长QT综合征,Brugada综合征和进行性传导疾病相关的离子通道中断。 这些突变用于诊断和筛选短QT综合征,长QT综合征,Brugada综合征和进行性传导疾病,从而提供诊断心源性猝死和/或预测心源性猝死易感性的方式。 提供核酸探针,其与本文所述的突变核酸选择性杂交。 提供了选择性结合本文所述突变蛋白的抗体。 本文所述的突变也用于筛选可用于治疗由这种突变显示的症状的化合物。

    Mutations in ion channel proteins associated with sudden cardiac death
    6.
    发明申请
    Mutations in ion channel proteins associated with sudden cardiac death 有权
    与心脏猝死相关的离子通道蛋白质的突变

    公开(公告)号:US20050130190A1

    公开(公告)日:2005-06-16

    申请号:US10924375

    申请日:2004-08-23

    摘要: Previously unknown mutations of the KCNH2, SCN5A and KCNQ1 genes are disclosed which are involved in ion channel disruptions associated with short QT syndrome, long QT syndrome, Brugada syndrome and progressive conduction disease. These mutations are utilized to diagnose and screen for short QT syndrome, long QT syndrome, Brugada syndrome and progressive conduction disease, thus providing modalities for diagnosing sudden cardiac death and/or predicting susceptibility to sudden cardiac death. Nucleic acid probes are provided which selectively hybridize to the mutant nucleic acids described herein. Antibodies are provided which selectively bind to the mutant proteins described herein. The mutations described herein are also utilized to screen for compounds useful in treating the symptoms manifest by such mutations.

    摘要翻译: 公开了KCNH2,SCN5A和KCNQ1基因的以前未知突变,其涉及与短QT综合征,长QT综合征,Brugada综合征和进行性传导疾病相关的离子通道中断。 这些突变用于诊断和筛选短QT综合征,长QT综合征,Brugada综合征和进行性传导疾病,从而提供诊断心源性猝死和/或预测心源性猝死易感性的方式。 提供核酸探针,其与本文所述的突变核酸选择性杂交。 提供了选择性结合本文所述突变蛋白的抗体。 本文所述的突变也用于筛选可用于治疗由这种突变显示的症状的化合物。

    Mutations in ion channel proteins associated with sudden cardiac death
    7.
    发明授权
    Mutations in ion channel proteins associated with sudden cardiac death 失效
    与心脏猝死相关的离子通道蛋白质的突变

    公开(公告)号:US07745213B2

    公开(公告)日:2010-06-29

    申请号:US12413735

    申请日:2009-03-30

    IPC分类号: C12N5/10 C12N15/00 C12N15/63

    摘要: Previously unknown mutations of the KCNH2, SCN5A and KCNQ1 genes are disclosed which are involved in ion channel disruptions associated with short QT syndrome, long QT syndrome, Brugada syndrome and progressive conduction disease. These mutations are utilized to diagnose and screen for short QT syndrome, long QT syndrome, Brugada syndrome and progressive conduction disease, thus providing modalities for diagnosing sudden cardiac death and/or predicting susceptibility to sudden cardiac death. Nucleic acid probes are provided which selectively hybridize to the mutant nucleic acids described herein. Antibodies are provided which selectively bind to the mutant proteins described herein. The mutations described herein are also utilized to screen for compounds useful in treating the symptoms manifest by such mutations.

    摘要翻译: 公开了KCNH2,SCN5A和KCNQ1基因的以前未知突变,其涉及与短QT综合征,长QT综合征,Brugada综合征和进行性传导疾病相关的离子通道中断。 这些突变用于诊断和筛选短QT综合征,长QT综合征,Brugada综合征和进行性传导疾病,从而提供诊断心源性猝死和/或预测心源性猝死易感性的方式。 提供核酸探针,其与本文所述的突变核酸选择性杂交。 提供了选择性结合本文所述突变蛋白的抗体。 本文所述的突变也用于筛选可用于治疗由这种突变显示的症状的化合物。

    Loss of function mutations in calcium channel polypeptides associated with sudden cardiac death
    9.
    发明申请
    Loss of function mutations in calcium channel polypeptides associated with sudden cardiac death 有权
    与心脏猝死相关的钙通道多肽功能缺失的丧失

    公开(公告)号:US20080118438A1

    公开(公告)日:2008-05-22

    申请号:US11983005

    申请日:2007-11-06

    摘要: Previously unknown mutations of the CACNA1C and CACNB2b genes are disclosed which are involved in ion channel disruptions associated with shorter than normal QT interval and ST segment elevation syndrome. These mutations are utilized to diagnose and screen for shorter than normal QT interval and ST segment elevation syndrome, thus providing modalities for diagnosing syncope and/or sudden cardiac death and/or predicting susceptibility to syncope and/or sudden cardiac death. Nucleic acid probes are provided which selectively hybridize to the mutant nucleic acids described herein. Antibodies are provided which selectively bind to the mutant polypeptides described herein. The mutations described herein are also utilized to screen for compounds useful in treating the symptoms manifest by such mutations.

    摘要翻译: 公开了以前未知的CACNA1C和CACNB2b基因突变,其涉及与正常QT间期和ST段抬高综合征相关的离子通道中断。 这些突变用于诊断和筛选比正常QT间期和ST段抬高综合征更短的诊断和筛查,从而提供诊断晕厥和/或心脏猝死和/或预测晕厥易感性和/或心脏猝死的方法。 提供核酸探针,其与本文所述的突变核酸选择性杂交。 提供了选择性结合本文所述突变体多肽的抗体。 本文所述的突变也用于筛选可用于治疗由这种突变显示的症状的化合物。

    METHOD OF TREATING ARRHYTHMIAS
    10.
    发明申请
    METHOD OF TREATING ARRHYTHMIAS 审中-公开
    治疗ARRHYTHMIAS的方法

    公开(公告)号:US20080109040A1

    公开(公告)日:2008-05-08

    申请号:US11932291

    申请日:2007-10-31

    IPC分类号: A61N1/365

    CPC分类号: A61K31/495

    摘要: Methods are provided for treating arrhythmias including tachycardias, such as idiopathic ventricular tachycardia, ventricular fibrillation, and Torsade de Pointes (TdP) in a manner that minimizes undesirable side effects.

    摘要翻译: 提供用于治疗心律失常的方法,包括心动过速,例如特发性室性心动过速,心室纤维性颤动和扭转征(TdP),以最小化不良副作用的方式。