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    • 67. 发明授权
    • Desmin gene having novel point mutation causative of dilated cardiomyopathy
    • Desmin基因具有引起扩张型心肌病的新型点突变
    • US07825292B1
    • 2010-11-02
    • US11975760
    • 2007-10-22
    • Aiji Sakamoto
    • Aiji Sakamoto
    • A01K67/00A01K67/033
    • C12N15/8509A01K2217/05A01K2227/10A01K2267/03A01K2267/0375C07K14/4717C07K16/18C12Q1/6883C12Q2600/156
    • The present invention is intended to elucidate the cause of severe cardiomyopathy in subline (T) not manifesting the macroscopic cardiac hypertrophy, which has been separated from a hamster (B) with hypertrophic cardiomyopathy and clarify the pathogenic cause of dilated cardiomyopathy, thereby establishing a method of detecting and identifying dilated cardiomyopathy and a method of preventing and treating the same. The present invention relates to a desmin gene having a point mutation at the site corresponding to the 571-position of the base sequence in the cDNA translation region of Syrian hamster; a polypeptide thereof; and an oligonucleotide consisting of 5 to 250 bases including the point mutation site or an oligonucleotide having a sequence complementary thereto. Moreover, the present invention relates to a method of detecting and identifying the point mutation at the site corresponding to the 571-position of the base sequence in the cDNA translation region of Syrian hamster to judge whether or not it is a gene causative of hereditary cardiomyopathy.
    • 本发明旨在阐明不显示与肥厚性心肌病的仓鼠(B)分离的宏观心脏肥大的亚系(T)中严重心肌病的原因,并阐明扩张型心肌病的致病原因,从而建立方法 检测和鉴别扩张型心肌病及其预防和治疗方法。 本发明涉及在对应于叙利亚仓鼠的cDNA翻译区的碱基序列的571位的位点处具有点突变的结蛋白基因; 其多肽; 以及包含5〜250个碱基的寡核苷酸,包括点突变位点或与其互补的序列的寡核苷酸。 此外,本发明涉及一种检测和鉴定在叙利亚仓鼠cDNA翻译区的碱基序列的571位相应位点处的点突变的方法,以判断其是否是遗传性心肌病的基因 。
    • 69. 发明申请
    • Desmin gene having novel point mutation causative of dilated cardiomyopathy
    • Desmin基因具有引起扩张型心肌病的新型点突变
    • US20050155092A1
    • 2005-07-14
    • US10495409
    • 2002-10-11
    • Aiji Sakamoto
    • Aiji Sakamoto
    • A01K67/027C07K14/47C07K16/18C12N15/09C12N15/12C12N15/85C12Q1/68G01N33/15G01N33/50G01N33/53C07H21/04C07K14/705
    • C12N15/8509A01K2217/05A01K2227/10A01K2267/03A01K2267/0375C07K14/4717C07K16/18C12Q1/6883C12Q2600/156
    • The present invention is intended to elucidate the cause of severe cardiomyopathy in subline (T) not manifesting the macroscopic cardiac hypertrophy, which has been separated from a hamster (B) with hypertrophic cardiomyopathy and clarify the pathogenic cause of dilated cardiomyopathy, thereby establishing a method of detecting and identifying dilated cardiomyopathy and a method of preventing and treating the same. The present invention relates to a desmin gene having a point mutation at the site corresponding to the 571-position of the base sequence in the cDNA translation region of Syrian hamster; a polypeptide thereof; and an oligonucleotide consisting of 5 to 250 bases including the point mutation site or an oligonucleotide having a sequence complementary thereto. Moreover, the present invention relates to a method of detecting and identifying the point mutation at the site corresponding to the 571-position of the base sequence in the cDNA translation region of Syrian hamster to judge whether or not it is a gene causative of hereditary cardiomyopathy.
    • 本发明旨在阐明不显示与肥厚性心肌病的仓鼠(B)分离的宏观心脏肥大的亚系(T)中严重心肌病的原因,并阐明扩张型心肌病的致病原因,从而建立方法 检测和鉴别扩张型心肌病及其预防和治疗方法。 本发明涉及在对应于叙利亚仓鼠的cDNA翻译区的碱基序列的571位的位点处具有点突变的结蛋白基因; 其多肽; 以及包含5〜250个碱基的寡核苷酸,包括点突变位点或与其互补的序列的寡核苷酸。 此外,本发明涉及一种检测和鉴定在叙利亚仓鼠cDNA翻译区的碱基序列的571位相应位点处的点突变的方法,以判断其是否是遗传性心肌病的基因 。