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1. 发明申请

WO2002086113A3 ENZYME AND SNP MARKER FOR DISEASE 审中-公开
公开(公告)号：WO2002086113A3
公开(公告)日：2002-10-31
申请号：PCT/GB2002/001887
申请日：2002-04-24
申请人： ISIS INNOVATION LTD , COOKSON, William, Osmond, Charles, Michael , MOFFAT, Miriam, Fleur , ALLEN, Maxine , LENCH, Nick
发明人： COOKSON, William, Osmond, Charles, Michael , MOFFAT, Miriam, Fleur , ALLEN, Maxine , LENCH, Nick
IPC分类号： C12N9/48
摘要： The present invention relates to an isolated nucleic acid sequence which encodes a novel protein, where the protein is a new member in a family of enzymes with peptidase activity. Also provided is the use of the nucleic acid sequence and/or protein in medicine and research, a method for diagnosing, or determining predisposition to disease, methods for preventing or treating disease, and kits for use in the methods and the use of the nucleic acid sequence, protein and inhibitors thereof in treating or preventing inflammatory diseases, and in screens for identifying new inhibitors. Also provided are nucleic acid expression vectors, host cells, screens and non-human transgenic animals.

2. 发明申请

WO2008155396A1 METHOD FOR TESTING A SUBJECT THOUGHT TO HAVE OR TO BE PREDISPOSED TO ASTHMA 审中-公开
标题翻译：测试一个或多或待预测到ASTHMA的主体的方法
公开(公告)号：WO2008155396A1
公开(公告)日：2008-12-24
申请号：PCT/EP2008/057818
申请日：2008-06-19
申请人： COMMISSARIAT A L'ENERGIE ATOMIQUE , IMPERIAL INNOVATIONS LIMITED , MOFFATT, Miriam Fleur , COOKSON, William Osmond Charles , GUT, Ivo Glynne , LATHROP, Gregory Mark , KABESCH, Michael , FARRAL, Martin , ABECASIS, Gonçalo Rocha , LIANG, Liming
发明人： MOFFATT, Miriam Fleur , COOKSON, William Osmond Charles , GUT, Ivo Glynne , LATHROP, Gregory Mark , KABESCH, Michael , FARRAL, Martin , ABECASIS, Gonçalo Rocha , LIANG, Liming
IPC分类号： G01N33/68 , A61P11/06 , A61P37/08
CPC分类号： G01N33/6893 , G01N2500/10 , G01N2800/122 , G01N2800/24
摘要： The present invention concerns a method of testing a subject thought to have or be predisposed to having asthma, allergy, atopic disease or atopic sensitization, which comprises the step of analyzing a biological sample from said subject for (i) detecting the presence of a mutation associated with the over-expression of the ORMDL3 gene, and/or (ii) analyzing the expression of the ORMDL3 gene; a use, for treating and/or preventing asthma, allergy, atopic disease or atopic sensitization in a subject, of a compound which specifically inhibits the expression of the ORMDL3 gene; and an in vitro method of selecting a compound, which can be useful for treating asthma, allergy, atopic disease or atopic sensitization, characterized in that said method comprises the steps of: (a) obtaining a cell expressing the ORMDL3 gene, (b) contacting said cell with at least one compound, (c) comparing the expression of the ORMDL3 gene in the cell between the steps a) and b), and (d) selecting the compound, which induces a lower level of expression of the ORMDL3 gene in the cell contacted to that compound.
摘要翻译：本发明涉及一种测试被认为具有哮喘，过敏，特应性疾病或特应性敏化的受试者的方法，其包括分析来自所述受试者的生物样品的步骤：（i）检测突变的存在与ORMDL3基因的过表达相关，和/或（ii）分析ORMDL3基因的表达; 用于治疗和/或预防受试者中特异性抑制ORMDL3基因表达的化合物的哮喘，过敏，特应性疾病或特应性敏化的用途; 以及选择可用于治疗哮喘，过敏，特应性疾病或特应性敏化的化合物的体外方法，其特征在于所述方法包括以下步骤：（a）获得表达ORMDL3基因的细胞，（b）使所述细胞与至少一种化合物接触，（c）比较步骤a）和b）之间的细胞中ORMDL3基因的表达，和（d）选择诱导ORMDL3基因表达水平较低的化合物在与该化合物接触的细胞中。

3. 发明申请

WO0227023A9 GENETIC DETERMINANTS FOR DERMAL INFLAMMATION AND IMMUNITY 审中-公开
标题翻译：皮肤炎症和免疫的遗传决定因素
公开(公告)号：WO0227023A9
公开(公告)日：2003-10-30
申请号：PCT/GB0104338
申请日：2001-09-28
申请人： ISIS INNOVATION , COOKSON WILLIAM OSMOND CHARLES , HARPER JOHN , MOFFATT MIRIAM FLEUR , ABECASIS GONCALO ROCHA
发明人： COOKSON WILLIAM OSMOND CHARLES , HARPER JOHN , MOFFATT MIRIAM FLEUR , ABECASIS GONCALO ROCHA
IPC分类号： G01N33/50 , A61K31/00 , C12N15/09 , C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/156
摘要： The invention relates to the localisation of genetic factors associated with dermal inflammation and immunity to particular regions of the human genome. In particular, there are described methods of determining the genetic susceptibility of an individual to disease conditions involving dermal inflammation and immunity, especially but not exclusively atopic dermatitis, methods for the identification of polymorphic alleles which confer susceptibility to conditions involving dermal inflammation and immunity and methods for the identification of a human genes which contribute to or are responsible for the manifestation of disease conditions involving dermal inflammation and immunity.
摘要翻译：本发明涉及与皮肤炎症和对人类基因组的特定区域的免疫相关的遗传因子的定位。具体而言，描述了确定个体对涉及皮肤炎症和免疫的疾病状态的遗传易感性的方法，特别是但不限于特应性皮炎，用于鉴定赋予对皮肤炎症和免疫性的病症的易感性的多态性等位基因的方法和方法用于鉴定有助于或负责涉及皮肤炎症和免疫性的疾病状况表现的人类基因。

4. 发明申请

WO1997008338A1 ATOPY: DIAGNOSIS AND THERAPY 审中-公开
标题翻译： ATOPY：诊断和治疗
公开(公告)号：WO1997008338A1
公开(公告)日：1997-03-06
申请号：PCT/GB1996002095
申请日：1996-08-29
申请人： ISIS INNOVATIONS LIMITED , COOKSON, William, Osmond, Charles , HILL, Michael, Richard
发明人： ISIS INNOVATIONS LIMITED
IPC分类号： C12Q01/68
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/16
摘要： The invention relates to a method for diagnosing an individual as having atopy or a predisposition thereto. The method involves demonstrating in the individual the presence or absence of either: (i) an unusual variant form of the gene which codes for the beta sub-unit of the high affinity receptor for IgE (Fc ELEMENT RI beta ), the variant form comprising a variation in exon (7) which encodes a glycine at amino acid residue 237 instead of glutamic acid which appears at residue 237 in individuals without atopy; or (ii) an unusual polymorphic form of the amino acid sequence for Fc ELEMENT RI beta , the polymorphic form comprising glycine at amino acid residue 237 instead of glutamic acid which appears at residue 237 in individuals without atopy. Materials and other methods relating to the above diagnostic method are also described.
摘要翻译：本发明涉及一种用于诊断个体具有特应性或倾向性的方法。该方法包括在个体中证明存在或不存在：（i）编码IgE（Fc ELEMENT RIβ）的高亲和力受体的β亚单位的基因的异常变体形式，所述变体形式包含在氨基酸残基237编码甘氨酸的外显子（7）的变异，而不是在没有特应性的个体中出现在残基237处的谷氨酸; 或（ii）Fc元件RIβ的氨基酸序列的异常多态形式，多态性形式包含氨基酸残基237处的甘氨酸，而不是在无特应性的个体中出现在残基237处的谷氨酸。还描述了与上述诊断方法相关的材料和其它方法。

5. 发明申请

WO2005017505A2 DIAGNOSIS OF ATOPIC DISORDER 审中-公开
标题翻译：特发性病症的诊断
公开(公告)号：WO2005017505A2
公开(公告)日：2005-02-24
申请号：PCT/GB2004/003518
申请日：2004-08-16
申请人： ISIS INNOVATION LIMITED , COOKSON, William, Osmond, Charles , MOFFAT, Miriam, Fleur , HILL, Michael, Richard , TRAHERNE, James, Arnold
发明人： COOKSON, William, Osmond, Charles , MOFFAT, Miriam, Fleur , HILL, Michael, Richard , TRAHERNE, James, Arnold
IPC分类号： G01N21/64
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/172
摘要： Detecting whether a subject has or is predisposed to an atopic disorder can be carried out by determining whether the subject has any of the identified genetic polymorphisms located in the MS4A2 gene.
摘要翻译：检测受试者是否患有或患有特应性疾病可通过确定受试者是否具有位于MS4A2基因中的任何鉴定的遗传多态性来进行。

6. 发明申请

WO2002086113A2 ENZYME AND SNP MARKER FOR DISEASE 审中-公开
标题翻译： ENZYME和SNP疾病标志
公开(公告)号：WO2002086113A2
公开(公告)日：2002-10-31
申请号：PCT/GB2002/001887
申请日：2002-04-24
申请人： ISIS INNOVATIONS LTD , COOKSON, William, Osmond, Charles, Michael , MOFFAT, Miriam, Fleur , ALLEN, Maxine , LENCH, Nick
发明人： COOKSON, William, Osmond, Charles, Michael , MOFFAT, Miriam, Fleur , ALLEN, Maxine , LENCH, Nick
IPC分类号： C12N9/00
CPC分类号： C12N9/48 , A01K2217/05
摘要： The present invention relates to an isolated nucleic acid sequence which encodes a novel protein, where the protein is a new member in a family of enzymes with peptidase activity. Also provided is the use of the nucleic acid sequence and/or protein in medicine and research, a method for diagnosing, or determining predisposition to disease, methods for preventing or treating disease, and kits for use in the methods and the use of the nucleic acid sequence, protein and inhibitors thereof in treating or preventing inflammatory diseases, and in screens for identifying new inhibitors. Also provided are nucleic acid expression vectors, host cells, screens and non-human transgenic animals.
摘要翻译：本发明涉及编码新蛋白质的分离的核酸序列，其中蛋白质是具有肽酶活性的酶家族中的新成员。还提供了在药物和研究中使用核酸序列和/或蛋白质，用于诊断或确定疾病倾向的方法，用于预防或治疗疾病的方法，以及用于所述核酸的方法和用途的试剂盒酸序列，蛋白质及其抑制剂，用于治疗或预防炎性疾病，以及用于鉴定新抑制剂的筛选。还提供了核酸表达载体，宿主细胞，筛选和非人转基因动物。

7. 发明申请

WO2002027023A3 GENETIC DETERMINANTS FOR DERMAL INFLAMMATION AND IMMUNITY 审中-公开
公开(公告)号：WO2002027023A3
公开(公告)日：2002-04-04
申请号：PCT/GB2001/004338
申请日：2001-09-28
申请人： ISIS INNOVATION LIMITED , COOKSON, William, Osmond, Charles , HARPER, John , MOFFATT, Miriam, Fleur , ABECASIS, Goncalo, Rocha
发明人： COOKSON, William, Osmond, Charles , HARPER, John , MOFFATT, Miriam, Fleur , ABECASIS, Goncalo, Rocha
IPC分类号： C12Q1/68
摘要： The invention relates to the localisation of genetic factors associated with dermal inflammation and immunity to particular regions of the human genome. In particular, there are described methods of determining the genetic susceptibility of an individual to disease conditions involving dermal inflammation and immunity, especially but not exclusively atopic dermatitis, methods for the identification of polymorphic alleles which confer susceptibility to conditions involving dermal inflammation and immunity and methods for the identification of a human genes which contribute to or are responsible for the manifestation of disease conditions involving dermal inflammation and immunity.

8. 发明申请

WO0227023A2 GENETIC DETERMINANTS FOR DERMAL INFLAMMATION AND IMMUNITY 审中-公开
标题翻译：遗传决定因素，用于真菌感染和免疫
公开(公告)号：WO0227023A2
公开(公告)日：2002-04-04
申请号：PCT/GB0104338
申请日：2001-09-28
申请人： ISIS INNOVATION , COOKSON WILLIAM OSMOND CHARLES , HARPER JOHN , MOFFATT MIRIAM FLEUR , ABECASIS GONCALO ROCHA
发明人： COOKSON WILLIAM OSMOND CHARLES , HARPER JOHN , MOFFATT MIRIAM FLEUR , ABECASIS GONCALO ROCHA
IPC分类号： G01N33/50 , A61K31/00 , C12N15/09 , C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/156
摘要： The invention relates to the localisation of genetic factors associated with dermal inflammation and immunity to particular regions of the human genome. In particular, there are described methods of determining the genetic susceptibility of an individual to disease conditions involving dermal inflammation and immunity, especially but not exclusively atopic dermatitis, methods for the identification of polymorphic alleles which confer susceptibility to conditions involving dermal inflammation and immunity and methods for the identification of a human genes which contribute to or are responsible for the manifestation of disease conditions involving dermal inflammation and immunity.
摘要翻译：本发明涉及与人类基因组的特定区域的真皮炎症和免疫相关的遗传因素的定位。特别地，描述了确定个体对涉及皮肤炎症和免疫的疾病状况的遗传易感性的方法，特别是但不限于特应性皮炎，用于鉴定赋予对涉及皮肤炎症和免疫的方式的易感性的多态等位基因的方法和方法用于鉴定有助于或导致涉及皮肤炎症和免疫的疾病状况的表现的人类基因。

9. 发明申请

WO2005017505A3 DIAGNOSIS OF ATOPIC DISORDER 审中-公开
标题翻译：诊断病态
公开(公告)号：WO2005017505A3
公开(公告)日：2005-06-16
申请号：PCT/GB2004003518
申请日：2004-08-16
申请人： ISIS INNOVATION , COOKSON WILLIAM OSMOND CHARLES , MOFFAT MIRIAM FLEUR , HILL MICHAEL RICHARD , TRAHERNE JAMES ARNOLD
发明人： COOKSON WILLIAM OSMOND CHARLES , MOFFAT MIRIAM FLEUR , HILL MICHAEL RICHARD , TRAHERNE JAMES ARNOLD
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/172
摘要： Detecting whether a subject has or is predisposed to an atopic disorder can be carried out by determining whether the subject has any of the identified genetic polymorphisms located in the MS4A2 gene.
摘要翻译：通过确定受试者是否具有位于MS4A2基因中的任何鉴定的遗传多态性，来检测受试者是否具有或倾向于特应性障碍。

10. 发明申请

WO1995005481A1 DIAGNOSTIC METHOD AND THERAPY 审中-公开
标题翻译：诊断方法与治疗
公开(公告)号：WO1995005481A1
公开(公告)日：1995-02-23
申请号：PCT/GB1994001801
申请日：1994-08-17
申请人： ISIS INNOVATION LIMITED , COOKSON, William, Osmond, Charles, Michael , HOPKIN, Julian, Meurglyn , SHIRAKAWA, Taro
发明人： ISIS INNOVATION LIMITED
IPC分类号： C12Q01/68
CPC分类号： C12Q1/6883 , C07K14/70535 , C12Q1/6876 , C12Q2600/156 , C12Q2600/16 , C12Q2600/172
摘要： A method of diagnosing atopy or a predisposition to atopy in an individual, which comprises demonstrating the presence of a mutation or polymorphism in a specific DNA sequence of a gene encoding the beta-subunit of the high affinity IgE receptor in the individual. Two variant DNA sequences linked with atopy are as follows: 5' GAA TTG GTA TTG ATG (SEQ ID NO: 2), 5' GAA TTG GTA GTG ATG (SEQ ID NO: 4), both commencing at nucleotide 5640 of the beta-subunit gene. The invention makes it possible for the first time to identify individuals at genetic risk of developing atopic illness.
摘要翻译：一种诊断个体特应性或倾向性的方法，其包括证明在编码个体中高亲和力IgE受体的β-亚基的基因的特定DNA序列中存在突变或多态性。与特应性连接的两个变体DNA序列如下：5'GAA TTG GTA TTG ATG（SEQ ID NO：2），5'GAA TTG GTA GTG ATG（SEQ ID NO：4），两者均从β- 亚基基因。本发明使得有可能首次鉴定发生特应性疾病的遗传风险的个体。

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