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    Specific probes for the identification of mutations in the human phenylalanine hydroxylase gene
    11.
    发明公开
    Specific probes for the identification of mutations in the human phenylalanine hydroxylase gene 失效
    Spezifische Sonde zur Identifikation von Mutationen in den humanen Phenylalaningenen。

    公开(公告)号：EP0256630A1

    公开(公告)日：1988-02-24

    申请号：EP87305100.7

    申请日：1987-06-09

    申请人： HOWARD HUGHES MEDICAL INSTITUTE

    发明人： Woo, Savio L.C. ,  Dilella, Anthony G.

    IPC分类号： C12Q1/68 ,  C12N15/00

    CPC分类号： C12Q1/6883 ,  C12N9/0071 ,  C12Q2600/156 ,  C12Q2600/172 ,  C12Y114/16001 ,  Y10S435/81

    摘要： Disclosed is a method for detection of the mutation in phenylalanine hydroxylase genes. This method can be used for the detection of PKU affected, PKU heterozygotes and normals. Also disclosed are oligonucleotides synthesized to detect the first mutations identified in the human phenylalanine hydroxylase gene. The synthesized probes have base pair mismatches with genomic DNA to facilitate the diagnosis of normal and mutant phenylalanine hydroxylase genes. A simple method for detection of the genetictrait, PKU, without obtaining a previous family history of PKU is provided.

    摘要翻译： 公开了用于检测苯丙氨酸羟化酶基因突变的方法。 该方法可用于检测PKU受体，PKU杂合子和法线。 还公开了合成的用于检测人类苯丙氨酸羟化酶基因中鉴定的第一突变的寡核苷酸。 合成的探针具有与基因组DNA的碱基对错配，以促进正常和突变的苯丙氨酸羟化酶基因的诊断。 提供了一种用于检测遗传性状PKU的简单方法，而没有获得以前的PKU家族史。

    NOVEL CHIMERIC LIGAND-GATED ION CHANNELS AND METHODS OF USE THEREOF
    14.
    发明授权
    NOVEL CHIMERIC LIGAND-GATED ION CHANNELS AND METHODS OF USE THEREOF 有权
    新型嵌入式配体离子通道及其使用方法

    公开(公告)号：EP2344636B1

    公开(公告)日：2017-12-06

    申请号：EP09819933.4

    申请日：2009-10-09

    申请人： Howard Hughes Medical Institute

    发明人： STERNSON, Scott ,  LEE, Peter ,  LOOGER, Loren

    IPC分类号： C12N15/00 ,  C12N15/11 ,  C07K14/705

    CPC分类号： C07K14/70571 ,  A61K38/00

    摘要： The present invention provides novel chimeric receptors that have unique pharmacology. In particular, the chimeric receptors comprise a mutated ligand binding domain of the alpha7 nicotinic acetylcholine receptor fused to a transmembrane or channel domain from a ligand-gated ion channel protein. The mutations in the ligand binding domain confer selective binding of compounds. Methods of using the novel chimeric receptors of the invention as well as compounds that preferentially bind and activate the chimeric receptors are also disclosed.

    SECTIONING VOLUME SAMPLES
    15.
    发明公开
    SECTIONING VOLUME SAMPLES 审中-公开
    解剖体积样品

    公开(公告)号：EP3066447A1

    公开(公告)日：2016-09-14

    申请号：EP14859472.4

    申请日：2014-11-05

    申请人： Howard Hughes Medical Institute

    发明人： HESS, Harard F. ,  PEALE, David ,  LEE, Patrick R.

    IPC分类号： G01N1/06 ,  H01J37/26

    CPC分类号： G01N1/06 ,  G01N2001/065 ,  Y10T83/0448 ,  Y10T83/148 ,  Y10T83/6577

    摘要： A microtome includes a blade located at an end of a trough that defines a cavity for holding a liquid; a sample block in which the at least one sample is suspended, the sample block is moveable relative to the blade such that when the sample block is passed across the blade a section is cut from the sample block; a plate that includes a support frame that defines an opening, and a transparent film extending across the opening, the transparent film being transparent to electrons, a grasper being configured to receive and retain the plate, wherein the grasper is moveable relative to the blade; and a pusher section that lacks the sample pusher section.

    Three dimensional interferometric microscopy
    16.
    发明公开
    Three dimensional interferometric microscopy 有权
    干细胞学杂志Mikroskopie

    公开(公告)号：EP2299260A2

    公开(公告)日：2011-03-23

    申请号：EP10169918.9

    申请日：2010-07-16

    申请人： Howard Hughes Medical Institute

    发明人： Hess, Harald F.

    IPC分类号： G01N21/64

    CPC分类号： G01N21/6458 ,  G01B9/02097 ,  G01B9/04 ,  G02B21/18 ,  G02B27/14

    摘要： A statistically sparse subset of switchable optical sources in a sample is activated, and the activated switchable optical sources are excited such that optical beams are emitted from the activated switchable optical sources along at least two optical paths. A first wavefront modification in a first optical beam emitted from the activated switchable optical sources along a first optical path is introduced and a second wavefront modification in a second optical beam emitted from the activated switchable optical sources along a second optical path is introduced, the second wavefront modification being distinct from the first wavefront modification. The first and second optical beams are interfered with each other to produce a plurality of output beams, and three-dimensional position information of the optical sources is determined based on an intensity of each output beam from the plurality of output beams.

    摘要翻译： 在样品中的可切换光源的统计稀疏子集被激活，激活的可切换光源被激发，使得光束沿着至少两个光路从激活的可切换光源发射。 引入从激活的可切换光源沿着第一光路发射的第一光束中的第一波前修改，并且引入沿着第二光路从激活的可切换光源发射的第二光束中的第二波前修改，第二波前修改 波前修改与第一波前修改不同。 第一和第二光束彼此干涉以产生多个输出光束，并且基于来自多个输出光束的每个输出光束的强度来确定光源的三维位置信息。