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1.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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3.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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4.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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5.发明申请Survival motor neuron (SMN) gene: a gene for spinal muscular atrophy 审中-公开生存运动神经元（SMN）基因：脊髓性肌肉萎缩的基因公开(公告)号：US20070166737A1
公开(公告)日：2007-07-19
申请号：US11603305
申请日：2006-11-22
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.
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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6.发明授权公开(公告)号：US08394932B2
公开(公告)日：2013-03-12
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： C07K16/18
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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7.发明授权Method and probes for detecting markers linked to the infantile spinal muscular atrophy locus 失效用于检测与婴儿脊髓性肌萎缩位点连锁的标记物的方法和探针
公开(公告)号：US6040142A
公开(公告)日：2000-03-21
申请号：US750064
申请日：1997-01-29
申请人： Judith Melki , Arnold Munnich
发明人： Judith Melki , Arnold Munnich
CPC分类号： C12Q1/6876 , C07K14/475 , C12Q1/6858 , C12Q1/6883 , C12Q2600/156 , C12Q2600/172
摘要： The invention relates to methods and compositions for detecting the presence of genetic alterations in the human 5q13 chromosomal region. More specifically, the invention relates to nucleic acids, probes, primers, and methods of using the same, for the amplification and/or the detection of alterations in the human 5q13 chromosomal region, and their correlation to spinal muscular atrophy.
摘要翻译： PCT No.PCT / FR95 / 00722 Sec。 371日期1997年1月29日 102（e）日期1997年1月29日PCT归档1995年6月2日PCT公布。 出版物WO95 / 33852 日期1995年12月14日本发明涉及用于检测人5q13染色体区域中遗传改变的存在的方法和组合物。 更具体地，本发明涉及用于扩增和/或检测人5q13染色体区域中的改变的核酸，探针，引物及其使用方法及其与脊髓性肌肉萎缩的相关性。
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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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9.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：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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