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    • 2. 发明申请
    • NOVEL GENE PANEL FOR THE DIAGNOSIS OF DILATED CARDIOMYOPATHY
    • 用于诊断血液透析病变的新型基因组
    • WO2016005589A2
    • 2016-01-14
    • PCT/EP2015065890
    • 2015-07-10
    • MAX DELBRÜCK CT FÜR MOLEKULARE MEDIZINUNIV SINGAPORE
    • SCHÄFER SEBASTIANHUEBNER NORBERTCOOK STUART A
    • C12Q1/68
    • C12Q1/6883C12Q2600/118C12Q2600/156
    • The application relates to a method for diagnosing dilated cardiomyopathy (DCM) in a subject or for assessing the risk of a subject to acquire DCM or the risk of heart failure comprising: (i) determining in a sample of a subject to be diagnosed the sequence of one or more polymorphisms in a (first) panel of genes, wherein the panel of genes comprises the genes of the group consisting of PIEZO1, PLEC, HELZ2, NACAD, PKD1, IGSF10, TNRC18, UNC13B, VWF, and XIRP2; (ii) comparing the determined sequence to the sequence of said polymorphism in a control derived from a control subject (control sequence), the control subject not suffering from dilated cardiomyopathy; and (iii) attributing the presence of dilated cardiomyopathy or the risk of acquiring DCM or the risk of heart failure to said subject to be diagnosed if one or more determined sequences differ from the respective sequence in said control sequence. Furthermore, the application relates to a kit or array for diagnosing dilated cardiomyopathy (DCM) in a subject or for assessing the risk of a subject to acquire DCM comprising means for determining the sequence of one or more polymorphisms in a (first) panel of genes comprising probes for detecting a one or more SNP within each gene of the first panel of genes.
    • 本申请涉及用于诊断受试者中扩张型心肌病(DCM)或用于评估受试者获得DCM或心力衰竭风险的风险的方法,包括:(i)在要诊断的受试者的样品中确定序列 (第一)基因中的一个或多个多态性,其中所述基因组包含由PIEZO1,PLEC,HELZ2,NACAD,PKD1,IGSF10,TNRC18,UNC13B,VWF和XIRP2组成的组的基因; (ii)将来自对照受试者(对照序列)的对照中所确定的序列与所述多态性的序列进行比较,所述对照受试者不患有扩张型心肌病; 以及(iii)如果一个或多个确定的序列与所述控制序列中的相应序列不同,则将扩张型心肌病的存在或获得DCM的风险或心脏衰竭的风险归因于待诊断的所述受试者。 此外,本申请涉及用于诊断受试者中扩张型心肌病(DCM)或用于评估受试者获得DCM的风险的试剂盒或阵列,其包括用于确定(第一)基因组中一个或多个多态性序列的方法 包括用于检测第一组基因的每个基因内的一个或多个SNP的探针。