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1.发明申请Methods for Altering MRNA Splicing and Treating Familial Dysautonomia and Other Mechanistically Related Disorders 审中-公开改变MRNA切割和治疗家族性自主神经病和其他机械相关性疾病的方法公开(公告)号：US20110136836A1
公开(公告)日：2011-06-09
申请号：US12773137
申请日：2010-05-04
CPC分类号： A61K31/52 , A61K31/353 , A61K31/355 , C12Q1/6883 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158 , A61K2300/00
摘要： This invention relates to methods for altering the splicing of mRNA in cells. In particular, this invention also relates to methods for increasing the ratio of wild type to misspliced forms of mRNA and corresponding encoded proteins in cells possessing a mutant gene encoding either the i) misspliced mRNA corresponding to the mutant protein or ii) a component in the splicing machinery responsible for processing the misspliced mRNA. In addition, this invention relates to treating individuals having a disorder associated with a misspliced mRNA, such as Familial Dysautonomia or Neurofibromatosis 1, by administering to such an individual a cytokinin such as kinetin.
摘要翻译： 本发明涉及改变细胞中mRNA的剪接的方法。 特别地，本发明还涉及用于增加具有编码与突变蛋白相对应的i）错过的mRNA的突变基因的细胞中野生型与错合型mRNA和相应编码蛋白的比例的方法，或ii） 拼接机构负责处理错误的mRNA。 此外，本发明涉及通过向这样的个体施用诸如激动素的细胞分裂素来治疗与错过的mRNA相关的病症的个体，例如家族性自主神经病或神经纤维瘤病1。
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2.发明授权Methods for altering mRNA splicing and treating familial dysautonomia and other mechanistically related disorders 有权改变mRNA剪接和治疗家族性肥胖症等机械相关疾病的方法公开(公告)号：US07737110B2
公开(公告)日：2010-06-15
申请号：US10956601
申请日：2004-10-01
CPC分类号： A61K31/52 , A61K31/353 , A61K31/355 , C12Q1/6883 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158 , A61K2300/00
摘要： This invention relates to methods for altering the splicing of mRNA in cells. In particular, this invention also relates to methods for increasing the ratio of wild type to misspliced forms of mRNA and corresponding encoded proteins in cells possessing a mutant gene encoding either the i) misspliced mRNA corresponding to the mutant protein or ii) a component in the splicing machinery responsible for processing the misspliced mRNA. In addition, this invention relates to treating individuals having a disorder associated with a misspliced mRNA, such as Familial Dysautonomia or Neurofibromatosis 1, by administering to such an individual a cytokinin such as kinetin.
摘要翻译： 本发明涉及改变细胞中mRNA的剪接的方法。 特别地，本发明还涉及用于增加具有编码与突变蛋白相对应的i）错过的mRNA的突变基因的细胞中野生型与错合型mRNA和相应编码蛋白的比例的方法，或者ii） 拼接机构负责处理错误的mRNA。 此外，本发明涉及通过向这样的个体施用诸如激动素的细胞分裂素来治疗与错过的mRNA相关的病症的个体，例如家族性自主神经病或神经纤维瘤病1。
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3.发明授权Methods for altering MRNA splicing and treating familial dysautonomia by administering kinetin, benzyladenine, and tocotrienols 有权通过施用激动素，苄基腺嘌呤和生育三烯酚来改变MRNA剪接和治疗家族性不自主的方法公开(公告)号：US08729025B2
公开(公告)日：2014-05-20
申请号：US13601034
申请日：2012-08-31
CPC分类号： A61K31/52 , A61K31/353 , A61K31/355 , C12Q1/6883 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158 , A61K2300/00
摘要： This invention relates to methods for altering the splicing of mRNA in cells. In particular, this invention also relates to methods for increasing the ratio of wild type to misspliced forms of mRNA and corresponding encoded proteins in cells possessing a mutant gene encoding either the i) misspliced mRNA corresponding to the mutant protein or ii) a component in the splicing machinery responsible for processing the misspliced mRNA. In addition, this invention relates to treating individuals having a disorder associated with a misspliced mRNA, such as Familial Dysautonomia or Neurofibromatosis 1, by administering to such an individual a cytokinin such as kinetin.
摘要翻译： 本发明涉及改变细胞中mRNA的剪接的方法。 特别地，本发明还涉及用于增加具有编码与突变蛋白相对应的i）错过的mRNA的突变基因的细胞中野生型与错合型mRNA和相应编码蛋白的比例的方法，或ii） 拼接机构负责处理错误的mRNA。 此外，本发明涉及通过向这样的个体施用诸如激动素的细胞分裂素来治疗与错过的mRNA相关的病症的个体，例如家族性自主神经病或神经纤维瘤病1。
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4.发明申请Methods for Altering MRNA Splicing and Treating Familial Dysautonomia and Other Mechanistically Related Disorders 有权改变MRNA切割和治疗家族性自主神经病和其他机械相关性疾病的方法公开(公告)号：US20120329816A1
公开(公告)日：2012-12-27
申请号：US13601034
申请日：2012-08-31
CPC分类号： A61K31/52 , A61K31/353 , A61K31/355 , C12Q1/6883 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158 , A61K2300/00
摘要： This invention relates to methods for altering the splicing of mRNA in cells. In particular, this invention also relates to methods for increasing the ratio of wild type to misspliced forms of mRNA and corresponding encoded proteins in cells possessing a mutant gene encoding either the i) misspliced mRNA corresponding to the mutant protein or ii) a component in the splicing machinery responsible for processing the misspliced mRNA. In addition, this invention relates to treating individuals having a disorder associated with a misspliced mRNA, such as Familial Dysautonomia or Neurofibromatosis 1, by administering to such an individual a cytokinin such as kinetin.
摘要翻译： 本发明涉及改变细胞中mRNA的剪接的方法。 特别地，本发明还涉及用于增加具有编码与突变蛋白相对应的i）错过的mRNA的突变基因的细胞中野生型与错合型mRNA和相应编码蛋白的比例的方法，或ii） 拼接机构负责处理错误的mRNA。 此外，本发明涉及通过向这样的个体施用诸如激动素的细胞分裂素来治疗与错过的mRNA相关的病症的个体，例如家族性自主神经病或神经纤维瘤病1。
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公开(公告)号：US20090176222A1
公开(公告)日：2009-07-09
申请号：US12172847
申请日：2008-07-14
CPC分类号： C12Q1/6883 , A01K2217/05 , A01K2217/075 , A01K2227/105 , A01K2267/0306 , A01K2267/0318 , C07K14/47 , C12N15/8509 , C12Q2600/156
摘要： This invention relates to methods and compositions useful for detecting mutations which cause Familial Dysautonomia. Familial dysautonomia (FD; Riley-Day syndrome), an Ashkenazi Jewish disorder, is the best known and most frequent of a group of congenital sensory neuropathies and is characterized by widespread sensory and variable autonomic dysfunction. Previously, we mapped the FD gene, DYS, to a 0.5 cM region of chromosome 9q31 and showed that the ethnic bias is due to a founder effect, with >99.5% of disease alleles sharing a common ancestral haplotype. To investigate the molecular basis of FD, we sequenced the minimal candidate region and cloned and characterized its 5 genes. One of these, IKBKAP, harbors two mutations that can cause FD. The major haplotype mutation is located in the donor splice site of intron 20. This mutation can result in skipping of exon 20 in the mRNA from FD patients, although they continue to express varying levels of wild-type message in a tissue-specific manner. RNA isolated from patient lymphoblasts is primarily wild-type, whereas only the deleted message is seen in RNA isolated from brain. The mutation associated with the minor haplotype in four patients is a missense (R696P) mutation in exon 19 that is predicted to disrupt a potential phosphorylation site. Our findings indicate that almost all cases of FD are caused by an unusual splice defect that displays tissue-specific expression; and they also provide the basis for rapid carrier screening in the Ashkenazi Jewish population.
摘要翻译： 本发明涉及可用于检测引起家族性躯体障碍的突变的方法和组合物。 家族性失眠症（FD; Riley-Day综合征），一种Ashkenazi犹太病症，是一组先天性感觉神经病最知名和最常见的，其特征在于广泛的感觉和可变自主神经功能障碍。 以前，我们将FD基因DYS映射到染色体9q31的0.5cM区域，并显示种族偏倚是由于创始者效应，> 99.5％的疾病等位基因共享共同的祖先单体型。 为了研究FD的分子基础，我们对最小候选区进行了测序，克隆并表征了其5个基因。 其中之一，IKBKAP，有两个可能导致FD的突变。 主要的单倍型突变位于内含子20的供体剪接位点。这种突变可导致FD患者mRNA中外显子20的跳跃，尽管它们以组织特异性方式继续表达不同程度的野生型信息。 从患者淋巴母细胞分离的RNA主要是野生型，而只有从脑分离的RNA中才能看到已删除的信息。 与4例患者中较小单倍型相关的突变是外显子19中的错义（R696P）突变，预测会破坏潜在的磷酸化位点。 我们的研究结果表明，几乎所有FD的病例都是由显示组织特异性表达的不寻常的拼接缺陷引起的; 它们也为在阿什肯纳西犹太人群体中快速的载体筛查提供了基础。
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公开(公告)号：US5693757A
公开(公告)日：1997-12-02
申请号：US453265
申请日：1995-05-30
IPC分类号： A61K38/00 , A61P21/00 , C07K1/22 , C07K14/47 , C07K16/00 , C07K16/18 , C12N15/09 , C12P21/02 , C12P21/08 , C12Q1/68 , G01N33/50 , C07K1/00 , C12N1/20 , C12N15/00 , C12P21/06
摘要： A novel gene, huntingtin, is described, encoding huntingtin protein, recombinant vectors and hosts capable of expressing huntingtin. Methods for the diagnosis and treatment of Huntington's disease are also provided.
摘要翻译： 描述了一种新型基因，亨廷顿蛋白，编码亨廷顿蛋白，重组载体和能够表达亨廷顿汀的宿主。 还提供了亨廷顿病诊断和治疗方法。
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公开(公告)号：US5538844A
公开(公告)日：1996-07-23
申请号：US35928
申请日：1993-03-23
IPC分类号： A61K38/00 , A61K39/395 , A61P21/00 , C07H21/04 , C07K1/20 , C07K1/22 , C07K14/47 , C07K16/00 , C12N5/10 , C12N15/09 , C12N15/12 , C12P21/08 , C12Q1/68 , G01N33/53 , C07H19/00 , C07H21/00 , C12P21/06
摘要： The present invention relates, in general, to a novel transport protein, IT10C3. In particular, the present invention relates to nucleic acid molecules coding for IT10C3; IT10C3 polypeptides; recombinant nucleic acid molecules; cells containing the recombinant nucleic acid molecules; antisense IT10C3 nucleic acid constructs; antibodies having binding affinity to an IT10C3 polypeptide; hybridomas containing the antibodies; nucleic acid probes for the detection of IT10C3 nucleic acid; a method of detecting IT10C3 nucleic acid or polypeptide in a sample; and kits containing nucleic acid probes or antibodies.
摘要翻译： 本发明一般涉及新型转运蛋白IT10C3。 特别地，本发明涉及编码IT10C3的核酸分子; IT10C3多肽; 重组核酸分子; 含有重组核酸分子的细胞; 反义IT10C3核酸构建体; 对IT10C3多肽具有结合亲和力的抗体; 含有抗体的杂交瘤; 用于检测IT10C3核酸的核酸探针; 检测样品中IT10C3核酸或多肽的方法; 和含有核酸探针或抗体的试剂盒。
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公开(公告)号：US20130066060A1
公开(公告)日：2013-03-14
申请号：US13449981
申请日：2012-04-18
IPC分类号： C07H21/04
CPC分类号： C12Q1/6883 , A01K2217/05 , A01K2217/075 , A01K2227/105 , A01K2267/0306 , A01K2267/0318 , C07K14/47 , C12N15/8509 , C12Q2600/156
摘要： This invention relates to methods and compositions for detecting mutations causing Familial Dysautonomia (FD), an Ashkenazi Jewish disorder characterized by widespread sensory and variable autonomic dysfunction. Previously, we mapped the FD gene, DYS, to a 0.5 cM region of chromosome 9q31. We sequenced the minimal candidate region and cloned and characterized its 5 genes. IKBKAP harbors two mutations that can cause FD. The major haplotype mutation is located in the donor splice site of intron 20. This mutation can result in skipping of exon 20 in the mRNA from FD patients, although they continue to express varying levels of wild-type message in a tissue-specific manner. RNA isolated from patient lymphoblasts is primarily wild-type, whereas only deleted message is seen in RNA from isolated brain. The mutation associated with the minor haplotype is a missense (R696P) mutation in exon 19 that is predicted to disrupt a potential phosphorylation site.
摘要翻译： 本发明涉及用于检测引起家族性躯体功能障碍（FD）的突变的方法和组合物，其以广泛的感觉和可变自主神经功能障碍为特征的Ashkenazi犹太病症。 以前，我们将FD基因DYS映射到染色体9q31的0.5cM区域。 我们对最小候选区进行了测序，克隆并表征了其5个基因。 IKBKAP有两个引起FD的突变。 主要的单倍型突变位于内含子20的供体剪接位点。这种突变可导致FD患者mRNA中外显子20的跳跃，尽管它们以组织特异性方式继续表达不同程度的野生型信息。 从患者淋巴母细胞中分离的RNA主要是野生型的，而来自孤立的脑的RNA中仅看到已删除的信息。 与次要单倍型相关的突变是外显子19中的错义（R696P）突变，其被预测会破坏潜在的磷酸化位点。
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公开(公告)号：US5935851A
公开(公告)日：1999-08-10
申请号：US879260
申请日：1997-06-19
申请人： Anita E. Murthy , James F. Gusella
发明人： Anita E. Murthy , James F. Gusella
CPC分类号： C07K14/47 , A01K2217/075 , A61K38/00
摘要： The present invention relates, in general, to novel TPR-containing genes, tpr1 and tpr2. In particular, the present invention relates to nucleic acid molecules coding for tpr1 and tpr2; purified tpr1 and tpr2 polypeptides; recombinant nucleic acid molecules; cells containing the recombinant nucleic acid molecules; antibodies having binding affinity specifically to tpr1 and tpr2 polypeptides; hybridomas containing the antibodies; nucleic acid probes for the detection of tpr1 and tpr2; a method of detecting the novel tpr1 and tpr2 nucleic acids or polypeptides in a sample; and kits containing nucleic acid probes or antibodies. Therapeutic uses for the tpr1 and tpr2 polypeptides are also provided.
摘要翻译： 本发明一般涉及新型含TPR的基因tpr1和tpr2。 特别地，本发明涉及编码tpr1和tpr2的核酸分子; 纯化的tpr1和tpr2多肽; 重组核酸分子; 含有重组核酸分子的细胞; 对tpr1和tpr2多肽具有特异性结合亲和力的抗体; 含有抗体的杂交瘤; 用于检测tpr1和tpr2的核酸探针; 检测样品中新型tpr1和tpr2核酸或多肽的方法; 和含有核酸探针或抗体的试剂盒。 还提供了tpr1和tpr2多肽的治疗用途。
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公开(公告)号：US6077685A
公开(公告)日：2000-06-20
申请号：US478087
申请日：1995-06-07
IPC分类号： G01N33/53 , A61K31/70 , A61K38/00 , A61K39/395 , A61K48/00 , A61P35/00 , C07H21/04 , C07K14/47 , C07K14/82 , C07K16/00 , C07K16/18 , C12N15/09 , C12N15/12 , C12P21/02 , C12P21/08 , G01N33/574 , C07K16/30
摘要： A novel tumor suppressor protein, merlin, is described, including DNA sequences encoding merlin, and recombinant vectors and hosts capable of expressing merlin. Method for the diagnosis and treatment of merlin-associated tumors, and for the diagnosis and treatment of the disease neurofibromatosis 2 (NF2) are also provided.
摘要翻译： 描述了一种新型肿瘤抑制蛋白merlin，包括编码merlin的DNA序列，以及能够表达merlin的重组载体和宿主。 还提供了用于诊断和治疗梅林相关肿瘤的方法，以及用于诊断和治疗疾病神经纤维瘤病2（NF2）的方法。
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