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    • 77. 发明申请
    • MUTATIONS AND POLYMORPHISMS OF HDAC4
    • HDAC4的突变和多态性
    • WO2007016532A2
    • 2007-02-08
    • PCT/US2006029851
    • 2006-07-31
    • NOVARTIS AGNOVARTIS PHARMA GMBHCULVER KENNETH WAYNEZHU JIANLILLEBERG STAN
    • CULVER KENNETH WAYNEZHU JIANLILLEBERG STAN
    • A61K31/00
    • C12Q1/6886C12Q2600/106C12Q2600/156C12Q2600/172
    • This invention relates generally to the analytical testing of tissue samples in vitro, and more particularly to aspects of genetic polymorphisms and mutations of the HDAC4 gene. The invention provides new HDAC4 mutations and SNPs, useful in the diagnosis and treatment of subjects in need thereof. Accordingly, the various aspects of the present invention relate to polynucleotides encoding the HDAC4 mutations of the invention, expression vectors encoding the HDAC4 mutant polypeptides of the invention and organisms that express the HDAC4 mutant and polymorphic polynucleotides and/or HDAC4 mutant/polymorphic polypeptides of the invention. The various aspects of the present invention further relate to diagnostic/theranostic methods and kits that use the HDAC4 mutations and polymorphisms of the invention to identify individuals predisposed to disease or to classify individuals with regard to drug responsiveness, side effects, or optimal drug dose.
    • 本发明一般涉及体外组织样品的分析测试,更具体地涉及HDAC4基因的遗传多态性和突变的方面。 本发明提供了可用于诊断和治疗有需要的受试者的新的HDAC4突变和SNP。 因此,本发明的各个方面涉及编码本发明的HDAC4突变的多核苷酸,编码本发明的HDAC4突变体多肽的表达载体和表达HDAC4突变体的生物和表达HDAC4突变体的多态性多态性和/或HDAC4突变体/多态性多肽 发明。 本发明的各个方面进一步涉及使用本发明的HDAC4突变和多态性的诊断/治疗方法和试剂盒来识别易患疾病的个体或者关于药物反应性,副作用或最佳药物剂量对个体进行分类。