-
公开(公告)号：EP2836605A1
公开(公告)日：2015-02-18
申请号：EP13717469.4
申请日：2013-04-10
申请人： Institut National de la Santé et de la Recherche Médicale (INSERM) , Assistance Publique Hôpitaux De Paris , Université Paris Descartes , Fondation Imagine
发明人： CORMIER-DAIRE, Valérie , KAPLAN, Josseline , PERRAULT, Isabelle , ROZET, Jean-Michel , MUNNICH, Arnold , SAUNIER, Sophie
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , A01K67/0275 , A01K2267/0306 , C12Q2600/118 , C12Q2600/156
摘要： The present invention relates to a method for diagnosing a skeletal ciliopathy.
摘要翻译： 本发明涉及一种诊断骨骼性纤毛病的方法。
-
公开(公告)号：EP2718437B1
公开(公告)日：2018-05-09
申请号：EP12729421.3
申请日：2012-06-08
申请人： Institut National de la Santé et de la Recherche Médicale (INSERM) , Centre National de la Recherche Scientifique (C.N.R.S.) , GENETHON , Université Paris Descartes , ENSCP - Chimie ParisTech École Nationale Supérieure de Chimie de Paris , Assistance Publique Hôpitaux de Paris
发明人： ROZET, Jean-Michel , KICHLER, Antoine , PERRAULT, Isabelle , KAPLAN, Josseline , GERARD, Xavier , SCHERMAN, Daniel , MUNNICH, Arnold
IPC分类号： C12N15/113 , A61P27/02 , A61K48/00
CPC分类号： C12N15/113 , A61K48/005 , C12N15/1137 , C12N2310/11 , C12N2310/321 , C12N2310/346 , C12N2310/3517 , C12N2320/33 , C12N2320/34 , C12N2310/3521
摘要： The present invention relates to a method for treating a Leber congenital amaurosis in a patient harboring the mutation c.2991+1655 A>G in the CEP290 gene, comprising the step of administering to said patient at least one antisense oligonucleotide complementary to nucleic acid sequence that is necessary for preventing splicing of the cryptic exon inserted into the mutant c.2291+1655 A>G CEP290 mRNA.
-
公开(公告)号：EP3378938A1
公开(公告)日：2018-09-26
申请号：EP18168531.4
申请日：2012-06-08
申请人： Institut National de la Santé et de la Recherche Médicale (INSERM) , Centre National de la Recherche Scientifique , Genethon , Université Paris Descartes , ENSCP - Chimie ParisTech École Nationale Supérieure de Chimie de Paris , Universite d'Evry Val d'Essonne , Assistance Publique - Hôpitaux de Paris
发明人： ROZET, Jean-Michel , KICHLER, Antoine , PERRAULT, Isabelle , KAPLAN, Josseline , GERARD, Xavier , SCHERMAN, Daniel , MUNNICH, Arnold
IPC分类号： C12N15/113 , A61P27/02
CPC分类号： C12N15/113 , A61K48/005 , C12N15/1137 , C12N2310/11 , C12N2310/321 , C12N2310/346 , C12N2310/3517 , C12N2320/33 , C12N2320/34 , C12N2310/3521
摘要： The present invention relates to a method for treating a Leber congenital amaurosis in a patient harbouring the mutation c.2991+1655 A>G in the CEP290 gene, comprising the step of administering to said patient at least one antisense oligonucleotide complementary to nucleic acid sequence that is necessary for preventing splicing of the cryptic exon inserted into the mutant c.2291+1655 A>G CEP290 mRNA
-
4.发明公开METHODS FOR PERFORMING ANTISENSE OLIGONUCLEOTIDE-MEDIATED EXON SKIPPING IN THE RETINA OF A SUBJECT IN NEED THEREOF 审中-公开程序OLIGONUKLEOTIDVERMITTELTEM反义外显子跳跃的IN事实指示实体的视网膜上的实现
公开(公告)号：EP3019610A1
公开(公告)日：2016-05-18
申请号：EP14737236.1
申请日：2014-07-08
申请人： INSERM - Institut National de la Santé et de la Recherche Médicale , Fondation Imagine , Université Paris Descartes - Paris V , Assistance Publique-Hôpitaux de Paris (APHP)
IPC分类号： C12N15/113 , A61K31/7088
摘要： A method, an apparatus, and a computer program product for wireless communication are provided. The apparatus determines an observed bit rate based on uplink transmissions of the UE, estimates an available link capacity for the UE, selects an estimate factor, and estimates available uplink throughput for future uplink transmissions of the UE as a function of the observed bit rate, the estimated available link capacity, and the estimate factor.
摘要翻译： 本发明涉及一种用于在需要其的受试者的视网膜进行反义寡核苷酸 - 介导的外显子跳跃的方法。 特别地，本发明涉及用于在受试者中包括注入所述受试者对所述反义寡核苷酸的量的玻璃体的步骤的视网膜细胞进行反义寡核苷酸 - 介导的外显子跳跃的方法。
-
5.发明公开METHODS FOR THE TREATMENT OF LEBER CONGENITAL AMAUROSIS 有权VERFAHREN ZUR BEHANDLUNG DER LEBERSCHEN KONENITALEN AMAUROSE
公开(公告)号：EP2718437A1
公开(公告)日：2014-04-16
申请号：EP12729421.3
申请日：2012-06-08
申请人： Institut National de la Santé et de la Recherche Médicale (INSERM) , Centre National de la Recherche Scientifique (CNRS) , GENETHON
发明人： ROZET, Jean-Michel , KICHLER, Antoine , PERRAULT, Isabelle , KAPLAN, Josseline , GERARD, Xavier , SCHERMAN, Daniel
IPC分类号： C12N15/113 , A61P27/02
CPC分类号： C12N15/113 , A61K48/005 , C12N15/1137 , C12N2310/11 , C12N2310/321 , C12N2310/346 , C12N2310/3517 , C12N2320/33 , C12N2320/34 , C12N2310/3521
摘要： The present invention relates to a method for treating a Leber congenital amaurosis in a patient harboring the mutation c.2991+1655 A>G in the CEP290 gene, comprising the step of administering to said patient at least one antisense oligonucleotide complementary to nucleic acid sequence that is necessary for preventing splicing of the cryptic exon inserted into the mutant c.2291+1655 A>G CEP290 mRNA.
摘要翻译： 本发明涉及一种用于治疗患有CEP290基因突变c.2991 + 1655A> G的患者的Leber先天性黑素瘤的方法，包括向所述患者施用至少一种与核酸序列互补的反义寡核苷酸的步骤 这是防止插入到突变体c.2291 + 1655A> G CEP290 mRNA中的神经外显子的剪接所必需的。
-
公开(公告)号：EP3959315A1
公开(公告)日：2022-03-02
申请号：EP20719658.5
申请日：2020-04-24
申请人： INSERM (Institut National de la Santé et de la Recherche Médicale) , Fondation Asile Des Aveugles , Université de Paris , Assistance Publique Hôpitaux de Paris , Fondation Imagine
IPC分类号： C12N15/113 , C12N15/11
-
公开(公告)号：EP3019610B1
公开(公告)日：2020-05-06
申请号：EP14737236.1
申请日：2014-07-08
申请人： INSERM (Institut National de la Santé et de la Recherche Médicale) , Fondation Imagine , Université de Paris , Assistance Publique-Hôpitaux de Paris (APHP)
IPC分类号： C12N15/113 , A61K31/7088
-
8.发明授权METHOD FOR DIAGNOSING OR PREDICTING A NON SYNDROMIC AUTOSOMAL RECESSIVE OPTIC ATROPHY, OR A RISK OF A NON SYNDROMIC AUTOSOMAL RECESSIVE OPTIC ATROPHY. 有权方法进行诊断和预测非综合征性常染色体隐性遗传OPTICAL萎缩或风险的非综合征性常染色体隐性遗传光萎缩的
公开(公告)号：EP2411534B1
公开(公告)日：2016-06-01
申请号：EP10710320.2
申请日：2010-03-23
申请人： INSERM - Institut National de la Santé et de la Recherche Médicale , Université Paris Descartes
发明人： ROZET, Jean-Michel , KAPLAN, Josseline , PERRAULT, Isabelle , GERBER, Sylvie , HANEIN, Sylvain , MUNNICH, Arnold
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , A61K48/00 , C07K14/46 , C12Q2600/156 , C12Q2600/172
-
9.发明公开
公开(公告)号：EP3702461A1
公开(公告)日：2020-09-02
申请号：EP20168215.0
申请日：2014-07-08
申请人： INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE - INSERM , Université de Paris , Fondation Imagine , ASSISTANCE PUBLIQUE, HOPITAUX DE PARIS
IPC分类号： C12N15/113 , A61K31/7088
摘要： The present invention relates to methods for performing antisense oligonucleotide-mediated exon skipping in the retina of a subject in need thereof. In particular, the present invention relates to a method for performing antisense oligonucleotide-mediated exon skipping in a retina cell of a subject comprising the step of injecting into the vitreous of the subject an amount of the antisense oligonucleotide.
-
-
-
-
-
-
-
-
搜索结果
9 条记录 (耗时 0.026 秒)
