公开(公告)号：US5733732A

公开(公告)日：1998-03-31

申请号：US582539

申请日：1996-01-03

申请人： Kevin P. Campbell ,  Steven L. Roberds ,  Yoshihide Sunada ,  Federica Piccolo ,  Marc Jeanpierre ,  Jean-Claude Kaplan

发明人： Kevin P. Campbell ,  Steven L. Roberds ,  Yoshihide Sunada ,  Federica Piccolo ,  Marc Jeanpierre ,  Jean-Claude Kaplan

IPC分类号： C12Q1/68 ,  C07H19/00 ,  C07H21/02 ,  C07H21/04

CPC分类号： C12Q1/6883 ,  C12Q2600/156

摘要： Disclosed herein are compositions and methods for the detection of primary adhalinopathy. More specifically, disclosed herein are nucleic acid probes which hybridize specifically, under stringent hybridization conditions, to a mutant adhalin gene or the complement thereof, but not to the corresponding region of a wild-type adhalin gene. Also disclosed are methods for the detection of a mutation in the human adhalin gene which is responsible for primary adhalinopathy. Such methods include the use of the nucleic acid probes of the invention for detection of the myopathy by hybridization, as well as detection by direct DNA sequencing techniques.

摘要翻译： 本文公开了用于检测原发性腺瘤病的组合物和方法。 更具体地，本文公开了在严格杂交条件下特异性与突变体阿达肝素基因或其互补序列而不是野生型腺恶素基因的相应区域杂交的核酸探针。 还公开了用于检测负责原代腺病变的人腺酸基因突变的方法。 这些方法包括使用本发明的核酸探针通过杂交检测肌病，以及通过直接DNA测序技术的检测。

公开(公告)号：US5449616A

公开(公告)日：1995-09-12

申请号：US123161

申请日：1993-09-16

申请人： Kevin P. Campbell ,  Steven L. Roberds ,  Richard D. Anderson

发明人： Kevin P. Campbell ,  Steven L. Roberds ,  Richard D. Anderson

IPC分类号： A61K38/00 ,  A61K39/00 ,  C07K14/47 ,  C07K14/705 ,  C07K16/18 ,  C07K16/28 ,  C12P21/08 ,  G01N33/68 ,  C07K14/435 ,  C12N5/10 ,  C12N15/12 ,  C12N15/63

CPC分类号： C07K14/4708 ,  C07K14/4707 ,  C07K14/705 ,  C07K16/18 ,  C07K16/28 ,  G01N33/6887 ,  G01N33/6896 ,  A61K38/00 ,  A61K39/00 ,  C07K2317/34 ,  G01N2800/2878 ,  G01N2800/2885

摘要： Disclosed are nucleic acid sequences encoding components of the dystrophin-glycoprotein complex. The components include dystroglycan, the 50 kDa protein component and the 59 kDa protein component. Also disclosed are compositions and methods which relate to the disclosed sequences.

摘要翻译： 公开了编码肌营养不良蛋白 - 糖蛋白复合物组分的核酸序列。 组分包括肌浆聚糖，50kDa蛋白质组分和59kDa蛋白质组分。 还公开了与公开的序列相关的组合物和方法。

公开(公告)号：US07067626B2

公开(公告)日：2006-06-27

申请号：US09899495

申请日：2001-07-05

申请人： Christopher W. Benjamin ,  Steven L. Roberds ,  Alla M. Karnovsky ,  Cara L. Ruble

发明人： Christopher W. Benjamin ,  Steven L. Roberds ,  Alla M. Karnovsky ,  Cara L. Ruble

IPC分类号： C07K1/00

CPC分类号： C07K14/705 ,  A61K38/00 ,  A61K39/00 ,  A61K2039/505 ,  C07K2319/00 ,  C12N2799/021

摘要： The present invention provides novel ion channel polypeptides and polynucleotides that identify and encode them. In addition, the invention provides expression vectors, host cells and methods for their production. The invention also provides methods for the identification of ion channel agonists/antagonists, useful for the treatment of human diseases and conditions.

摘要翻译： 本发明提供了鉴定和编码它们的新型离子通道多肽和多核苷酸。 此外，本发明提供表达载体，宿主细胞及其生产方法。 本发明还提供了用于鉴定可用于治疗人类疾病和病症的离子通道激动剂/拮抗剂的方法。

公开(公告)号：US06984771B2

公开(公告)日：2006-01-10

申请号：US10195963

申请日：2002-07-16

申请人： Steven L. Roberds ,  Rita M. Huff

发明人： Steven L. Roberds ,  Rita M. Huff

IPC分类号： G01N33/00

CPC分类号： A01K67/0276 ,  A01K2207/15 ,  A01K2217/00 ,  A01K2217/075 ,  A01K2227/105 ,  A01K2267/03 ,  A01K2267/0306 ,  A01K2267/0356 ,  C07K14/705 ,  C12N15/8509 ,  C12N2800/30

摘要： The present invention describes a recombinant rodent model for depression. More particularly, the rodent comprises cells expressing mutations in the WFS1 gene. The rodent is preferably a mouse heterologous for mutations in exon 8 of the WFS1 gene. Preferably, the mutations yield a non-functional wolframin protein that lacks all or some of it transmembrane regions. Methods and compositions for making and using the mouse and cells thereof are disclosed.

公开(公告)号：US06187552B1

公开(公告)日：2001-02-13

申请号：US09046158

申请日：1998-03-23

申请人： Steven L. Roberds ,  Paul S. Kaytes

发明人： Steven L. Roberds ,  Paul S. Kaytes

IPC分类号： G01N3353

CPC分类号： C12N9/1205 ,  C07K14/715 ,  C07K2319/00 ,  C12N2799/026 ,  C12Q1/02 ,  G01N33/566 ,  G01N33/6863 ,  G01N33/6869 ,  G01N2333/715

摘要： The invention provides a method of identifying a therapeutic useful for treating or preventing asthma, which method includes the steps of contacting a identify compounds that inhibit the binding of human JAK2 protein to the &bgr;c first molecule comprising at least the N terminal 294 residues of JAK2 protein as shown in SEQ ID NO: 5 with a second molecule comprising at least 13 membrane proximal cytoplasmic amino acid residues of the &bgr;c subunit of the IL-3, IL-5, and GM-CSF receptors as shown in SEQ ID NO: 3 in the presence of a candidate compound to subunit of the IL-3, IL-5 and GM-CSF receptors. Compounds that block the signalling pathways of the IL-3, IL-5 and GM-CSF receptors may be of use in the treatment of asthma.

摘要翻译： 本发明提供鉴定用于治疗或预防哮喘的治疗剂的方法，该方法包括以下步骤：将抑制人JAK2蛋白结合的识别化合物与至少包含JAK2蛋白的N末端294个残基的betac第一分子接触 如SEQ ID NO：5所示，第二个分子包含IL-3，IL-5和GM-CSF受体的betac亚基的至少13个近侧的近端细胞质氨基酸残基，如SEQ ID NO：3所示 候选化合物存在于IL-3，IL-5和GM-CSF受体亚单位。 阻断IL-3，IL-5和GM-CSF受体的信号通路的化合物可用于治疗哮喘。