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    OLIGODENDROGLIOMA DRIVER GENES
    4.
    发明公开
    OLIGODENDROGLIOMA DRIVER GENES 有权
    少枝胶质细胞驱动性基因

    公开(公告)号：EP2734644A4

    公开(公告)日：2015-03-18

    申请号：EP12814956

    申请日：2012-07-18

    申请人： UNIV JOHNS HOPKINS ,  UNIV DUKE

    发明人： VOGELSTEIN BERT ,  KINZLER KENNETH W ,  BETTEGOWDA CHETAN ,  AGRAWAL NISHANT ,  BIGNER DARELL ,  YAN HAI ,  MCLENDON ROGER

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6886 ,  C12Q2600/106 ,  C12Q2600/112 ,  C12Q2600/118 ,  C12Q2600/156 ,  C12Q2600/158

    摘要： Oligodendrogliomas are the second most common malignant brain tumor in adults. These tumors often contain a chromosomal abnormality involving a pericentromeric fusion of chromosomes 1 and 19, resulting in losses of the entire short arm of the former and the long arm of the latter. To identify the molecular genetic basis for this alteration, we performed exomic sequencing of seven anaplastic oligodendrogliomas with chromosome 1p and 19q losses. Among other changes, we found that that CIC (homolog of the Drosophila gene capicua) on chromosome 19q was somatically mutated in six of the seven cases and that FUBP1 (far upstream element (FUSE) binding protein) on chromosome 1p was somatically mutated in two of the seven cases. Examination of 27 additional oligodendrogliomas revealed 12 and 3 more tumors with mutations of CIC and FUBP1, respectively, 58% of which were predicted to result in truncations of the encoded proteins. These results suggest a critical role for these genes in the biology and pathology of oligodendrocytes.

    METHOD AND COMPOSITIONS FOR DETECTION AND ENUMERATION OF GENETIC VARIATIONS
    5.
    发明公开
    METHOD AND COMPOSITIONS FOR DETECTION AND ENUMERATION OF GENETIC VARIATIONS 有权
    方法和组合物检测和上市的遗传变异

    公开(公告)号：EP1641809A4

    公开(公告)日：2010-05-19

    申请号：EP04752581

    申请日：2004-06-09

    申请人： UNIV JOHNS HOPKINS

    发明人： DRESSMAN DEVIN ,  YAN HAI ,  KINZLER KENNETH W ,  VOGELSTEIN BERT

    IPC分类号： C07H21/04 ,  C12N20060101 ,  C12N15/10 ,  C12Q1/68

    CPC分类号： C12Q1/6858 ,  C07H21/04 ,  C12N15/1075 ,  C12Q1/686 ,  C12Q2565/537 ,  C12Q2563/149 ,  C12Q2563/143

    摘要： Many areas of biomedical research depend on the analysis of uncommon variations in individual genes or transcripts. Here we describe a method that can quantify such variation at a scale and ease heretofore unattainable. Each DNA molecule in a collection of such molecules is converted into a single particle to which thousands of copies of DNA identical in sequence to the original are bound. This population of beads then corresponds to a one-to-one representation of the starting DNA molecules. Variation within the original population of DNA molecules can then be simply assessed by counting fluorescently-labeled particles via flow cytometry. Millions of individual DNA molecules can be assessed in this fashion with standard laboratory equipment. Moreover, specific variants can be isolated by flow sorting and employed for further experimentation. This approach can be used for the identification and quantification of rare mutations as well as to study variations in gene sequences or transcripts in specific populations or tissues.

    NOVEL OXIDOREDUCTASES FOR ENANTIOSELECTIVE REACTIONS
    7.
    发明公开
    NOVEL OXIDOREDUCTASES FOR ENANTIOSELECTIVE REACTIONS 有权
    NEUARTIGE OXIDOREDUKTASENFÜRENANTIOSETIVEKING REAKENEN

    公开(公告)号：EP2820141A4

    公开(公告)日：2016-01-27

    申请号：EP13755329

    申请日：2013-02-27

    申请人： UNIV DUKE

    发明人： REITMAN ZACHARY JAMES ,  YAN HAI ,  CHOI BRYAN DAEHAHN ,  SAMPSON JOHN HOWARD

    IPC分类号： C12N9/04 ,  C12N1/00 ,  C12N1/20 ,  C12P7/00 ,  C12P7/40

    CPC分类号： C12N15/52 ,  C07K2319/21 ,  C12N9/0006 ,  C12N9/0008

    摘要： Described herein are compositions and methods for generating oxidoreductases for enantioselective reactions. Described herein are compositions and methods for generating neomorphic (R)-2-hydroxyacid dehydrogenases capable of enzymatically converting a 1-carboxy-2-ketoacid to a 1-carboxy-(R)-2-hydroxyacid, or the reverse reaction. Illustrative examples include (a) (R)-2-hydroxyadipate dehydrogenase and uses thereof for converting 2-oxoadipate to (R)-2-hydroxyadipate, or the reverse reaction; and (b) (R)-2-hydroxyglutarate dehydrogenase and uses thereof for converting 2-oxoglutarate to (R)-2-hydroxyglutarate, or the reverse reaction. Also described herein are compositions and methods for generating non-natural microbial organisms to enzymatically convert 2-oxoadipate to (E)-2-hexenedioate or adipate, or to enzymatically convert 2-oxoglutarate to (E)-2-pentenedioate or glutarate, or the respective reverse reactions.

    摘要翻译： 本文描述了用于产生对映选择性反应的氧化还原酶的组合物和方法。 本文描述的是用于产生能够将1-羧基-2-酮酸酸化为1-羧基 - （R）-2-羟基酸或逆反应的新型（R）-2-羟基酸脱氢酶的组合物和方法。 示例性实例包括（a）（R）-2-羟基己二酸脱氢酶及其用于将2-氧代己二酸转化为（R）-2-羟基己二酸酯的用途或反向反应; 和（b）（R）-2-羟基戊二酸脱氢酶及其用于将2-氧戊二酸转化为（R）-2-羟基戊二酸的反应或其反应。 本文还描述了用于产生非天然微生物生物体以将2-氧代己二酸酯酶化转化为（E）-2-己烯二酸酯或己二酸酯，或将2-氧戊二酸酯酶促转化为（E）-2-戊烯二酸酯或戊二酸酯的组合物和方法，或 各自的反向反应。