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公开(公告)号：US20140308275A1
公开(公告)日：2014-10-16
申请号：US14235123
申请日：2012-07-27
IPC分类号： C12Q1/68 , A61K31/713 , G01N33/68 , A61K38/17 , A61K39/395
CPC分类号： C12Q1/6883 , A61K31/713 , A61K38/1709 , A61K39/3955 , C07K16/22 , C12N15/1136 , C12N2310/11 , C12N2310/14 , C12Q2600/118 , C12Q2600/156 , G01N33/6872 , G01N2800/10 , G01N2800/50
摘要： The present invention relates to methods for diagnosing and treating Myhre Syndrome. The invention provides a method for diagnosing or predicting Myhre Syndrome, or a risk of Myhre Syndrome, in a subject, which method comprises detecting a mutation in SMAD4 gene, as compared to a control population, wherein the presence of said mutation is indicative of Myhre Syndrome or of a risk of Myhre Syndrome. The present invention also relates to an inhibitor of the SMAD4-mediated TGFβ/BMP signalling pathway for use in the treatment of Myhre Syndrome.
摘要翻译： 本发明涉及诊断和治疗Myhre综合征的方法。 本发明提供了一种用于诊断或预测Myhre综合症或Myhre综合征风险的方法，该方法包括检测SMAD4基因中的突变，与对照群体相比，其中所述突变的存在表示Myhre 综合征或Myhre综合征风险。 本发明还涉及用于治疗Myhre综合征的SMAD4介导的TGFβb/ BMP信号通路抑制剂。
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2.发明授权Diagnosis and treatment of medical conditions associated with defective NFkappa B(NF-&kgr;B) activation 有权诊断和治疗有缺陷的NFkappa B（NF-κB）活化相关的医学病症公开(公告)号：US06824972B2
公开(公告)日：2004-11-30
申请号：US09863049
申请日：2001-05-22
申请人： Sue J. Kenwrick , Hayley Woffendin , Arnold Munnich , Asmae Smahi , Alain Israel , Annemarie Poustka , Nina Heiss , Michele D'Urso , Richard A. Lewis , David L. Nelson , Swaroop Aradhya , Moise Levy
发明人： Sue J. Kenwrick , Hayley Woffendin , Arnold Munnich , Asmae Smahi , Alain Israel , Annemarie Poustka , Nina Heiss , Michele D'Urso , Richard A. Lewis , David L. Nelson , Swaroop Aradhya , Moise Levy
IPC分类号： C12Q100
CPC分类号： C12Q1/6883 , C12Q2600/156 , G01N2333/4703
摘要： Incontinentia Pigmenti (IP) is a neurocutaneous genodermatosis that segregates as an X-linked dominant disorder with a high probability of prenatal male lethality. A locus in Xq28 containing NF-&kgr;B Essential Modulator, a gene product involved in the activation of NF-kB and central to many pro-inflammatory and apoptotic pathways, contains mutations in the majority of cases of IP. Disclosed are methods, compositions and kits directed to a defect in a NF-&kgr;B related disease such as IP.
摘要翻译： 色素沉着（IP）是一种神经皮肤基底细胞病，其分离为具有高产前男性致死率的X连锁显性疾病。 含有NF-κB基本调节剂的Xq28基因座，涉及NF-kB的激活和许多促炎细胞凋亡通路中枢的基因产物，在大多数IP的病例中都包含突变。 公开了针对NF-κB相关疾病如IP的缺陷的方法，组合物和试剂盒。
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公开(公告)号：US10597654B2
公开(公告)日：2020-03-24
申请号：US15692669
申请日：2017-08-31
申请人： Jean-Michel Rozet , Antoine Kichler , Isabelle Perrault , Josseline Kaplan , Xavier Gerard , Daniel Scherman , M. Arnold Munnich
发明人： Jean-Michel Rozet , Antoine Kichler , Isabelle Perrault , Josseline Kaplan , Xavier Gerard , Daniel Scherman , M. Arnold Munnich
IPC分类号： C07H21/02 , C07H21/04 , A61K48/00 , C12N15/11 , C12N15/113
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.2991+1655 A>G CEP290 mRNA.
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4.发明申请公开(公告)号：US20060089490A1
公开(公告)日：2006-04-27
申请号：US11222810
申请日：2005-09-12
申请人： Judith Melki , Arnold Munnich
发明人： Judith Melki , Arnold Munnich
IPC分类号： C07K14/705
CPC分类号： G01N33/6893 , A01K2217/05 , A61K38/00 , C07K14/47 , C07K14/475 , C12Q1/6883 , C12Q2600/158 , Y02A50/451 , Y02A50/465
摘要： The present invention relates to the discovery of the human survival motor-neuron gene or SMD gene, which is a chromosome 5-SMA (Spinal Muscular Atrophy) determining gene. The present invention further relates to the nucleotide sequence encoding the SMN gene and corresponding amino acid sequence, a vector containing the gene encoding the SMN protein or a DNA sequence corresponding to the gene and transformant strains containing the SMN gene or a DNA sequence corresponding to the gene.
摘要翻译： 本发明涉及人类生存运动神经元基因或SMD基因的发现，其是染色体5-SMA（脊髓肌萎缩）确定基因。 本发明还涉及编码SMN基因的核苷酸序列和相应的氨基酸序列，含有编码SMN蛋白的基因的载体或与该基因相对应的DNA序列和含有SMN基因的转化体菌株或对应于 基因。
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公开(公告)号：US07033752B1
公开(公告)日：2006-04-25
申请号：US09109082
申请日：1998-07-02
申请人： Judith Melki , Arnold Munnich
发明人： Judith Melki , Arnold Munnich
CPC分类号： G01N33/6893 , A01K2217/05 , A61K38/00 , C07K14/47 , C07K14/475 , C12Q1/6883 , C12Q2600/158 , Y02A50/451 , Y02A50/465
摘要： The present invention relates to the discovery of the human survival motor-neuron gene or SMD gene, which is a chromosome 5-SMA (Spinal Muscular Atrophy) determining gene. The present invention further relates to the nucleotide sequence encoding the SMN gene and corresponding amino acid sequence, a vector containing the gene encoding the SMN protein or a DNA sequence corresponding to the gene and transformant strains containing the SMN gene or a DNA sequence corresponding to the gene.
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公开(公告)号：US20160369348A1
公开(公告)日：2016-12-22
申请号：US15256809
申请日：2016-09-06
IPC分类号： C12Q1/68 , C07K16/22 , G01N33/68 , C12N15/113
CPC分类号： C12Q1/6883 , A61K31/713 , A61K38/1709 , A61K39/3955 , C07K16/22 , C12N15/1136 , C12N2310/11 , C12N2310/14 , C12Q2600/118 , C12Q2600/156 , G01N33/6872 , G01N2800/10 , G01N2800/50
摘要： The present invention relates to methods for diagnosing and treating Myhre Syndrome. The invention provides a method for diagnosing or predicting Myhre Syndrome, or a risk of Myhre Syndrome, in a subject, which method comprises detecting a mutation in SMAD4 gene, as compared to a control population, wherein the presence of said mutation is indicative of Myhre Syndrome or of a risk of Myhre Syndrome. The present invention also relates to an inhibitor of the SMAD4-mediated TGβ/BMP signalling pathway for use in the treatment of Myhre Syndrome.
摘要翻译： 本发明涉及诊断和治疗Myhre综合征的方法。 本发明提供了一种用于诊断或预测Myhre综合症或Myhre综合征风险的方法，该方法包括检测SMAD4基因中的突变，与对照群体相比，其中所述突变的存在表示Myhre 综合征或Myhre综合征风险。 本发明还涉及用于治疗Myhre综合征的SMAD4介导的TGβ/ BMP信号传导途径的抑制剂。
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公开(公告)号：US09012425B2
公开(公告)日：2015-04-21
申请号：US14125063
申请日：2012-06-08
申请人： Jean-Michel Rozet , Antoine Kichler , Isabelle Perrault , Josseline Kaplan , Xavier Gerard , Daniel Scherman , M. Arnold Munnich
发明人： Jean-Michel Rozet , Antoine Kichler , Isabelle Perrault , Josseline Kaplan , Xavier Gerard , Daniel Scherman , M. Arnold Munnich
IPC分类号： C12N15/11 , A61K48/00 , C07H21/02 , C07H21/04 , C12N15/113
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： 本发明涉及一种在CEP290基因中携带突变c.2991 + 1655A> G的患者中治疗Leber先天性黑蒙的方法，包括向所述患者施用至少一个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中的隐性外显子的剪接所必需的。
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8.发明申请Use of Deferiprone and Methods to Treat and/or Prevent Friedreich Ataxia Resulting from Intracellular Mishandling of Iron 审中-公开使用去铁酮和方法治疗和/或预防由铁的细胞内不良处理引起的弗里德里希共济失调公开(公告)号：US20130190365A1
公开(公告)日：2013-07-25
申请号：US13755048
申请日：2013-01-31
申请人： Arnold Munnich , Michael Spino , Ioav Cabantchik
发明人： Arnold Munnich , Michael Spino , Ioav Cabantchik
IPC分类号： A61K31/4412
CPC分类号： A61K31/4412 , A61K31/195 , A61K31/4196
摘要： A therapeutically effective amount of deferiprone or deferasirox or physiologically acceptable salts thereof for the prevention, stabilization, treatment, or reversal of iron-induced FRDA disease in patients resulting from mitochondrial iron-induced damage to preferentially reduce the iron stores in the mitochondria. Also for the treatment of other conditions affecting the brain where a key element in the generation of the resultant pathology is the intracellular mishandling of iron.
摘要翻译： 用于预防，稳定，治疗或逆转由线粒体铁诱导的损伤导致的铁诱导的FRDA疾病的治疗有效量的去铁酮或去铁调或其生理上可接受的盐，以优先减少线粒体中的铁储存。 也用于治疗影响大脑的其他条件，其中所产生的病理学的关键因素是铁的细胞内不良处理。
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9.发明申请公开(公告)号：US20110294226A1
公开(公告)日：2011-12-01
申请号：US13096574
申请日：2011-04-28
申请人： Judith MELKI , Arnold Munnich
发明人： Judith MELKI , Arnold Munnich
IPC分类号： G01N33/566 , G01N33/577 , C07K19/00 , C07K16/18 , C07K14/47 , C07K7/08
CPC分类号： G01N33/6893 , A01K2217/05 , A61K38/00 , C07K14/47 , C07K14/475 , C12Q1/6883 , C12Q2600/158 , Y02A50/451 , Y02A50/465
摘要： The present invention relates to the discovery of the human survival motor-neuron gene or SMD gene, which is a chromosome 5-SMA (Spinal Muscular Atrophy) determining gene. The present invention further relates to the nucleotide sequence encoding the SMN gene and corresponding amino acid sequence, a vector containing the gene encoding the SMN protein or a DNA sequence corresponding to the gene and transformant strains containing the SMN gene or a DNA sequence corresponding to the gene.
摘要翻译： 本发明涉及人类生存运动神经元基因或SMD基因的发现，其是染色体5-SMA（脊髓肌萎缩）确定基因。 本发明还涉及编码SMN基因的核苷酸序列和相应的氨基酸序列，含有编码SMN蛋白的基因的载体或与该基因相对应的DNA序列和含有SMN基因的转化体菌株或对应于 基因。
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10.发明授权
公开(公告)号：US6080577A
公开(公告)日：2000-06-27
申请号：US545196
申请日：1995-10-19
申请人： Judith Melki , Arnold Munnich
发明人： Judith Melki , Arnold Munnich
IPC分类号： C12N15/09 , A61K38/00 , C07H21/04 , C07K14/47 , C07K14/475 , C07K16/00 , C07K16/18 , C12N5/10 , C12N15/12 , C12Q1/68 , C12N15/63 , C12N15/85
CPC分类号： G01N33/6893 , C07K14/47 , C07K14/475 , C12Q1/6883 , A01K2217/05 , A61K38/00 , C12Q2600/158
摘要： The present invention relates to the discovery of the human survival motor-neuron gene or SMN gene which is a chromosome 5-SMA (Spinal Muscular Atrophy) determining gene. The present invention further relates to the nucleotide sequence encoding the SMN gene and corresponding amino acid sequence, a vector containing the gene encoding the SMN protein or a DNA sequence corresponding to the gene and transformant strains containing the SMN gene or a DNA sequence corresponding to the gene.
摘要翻译： 本发明涉及作为染色体5-SMA（脊髓肌萎缩）确定基因的人类生存运动神经元基因或SMN基因的发现。 本发明还涉及编码SMN基因和相应氨基酸序列的核苷酸序列，含有编码SMN蛋白的基因的载体或与该基因相对应的DNA序列和含有SMN基因的转化体菌株或对应于 基因。
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