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1. 发明公开

EP0782630A1 POLYCYSTIC KIDNEY DISEASE GENE 失效
标题翻译：多囊肾病基因
公开(公告)号：EP0782630A1
公开(公告)日：1997-07-09
申请号：EP95938775.0
申请日：1995-10-11
申请人： GENZYME CORPORATION , THE JOHNS HOPKINS UNIVERSITY
发明人： KLINGER, Katherine, W. , LANDES, Gregory, M. , BURN, Timothy, C. , CONNORS, Timothy, D. , DACKOWSKI, William , GERMINO, Gregory , QIAN, Feng
IPC分类号： A01K67 , A61K31 , A61K48 , A61P13 , C07K14 , C07K16 , C12N1 , C12N5 , C12N15 , C12P21 , C12Q1 , A61K38
CPC分类号： C07K14/47 , A61K38/00 , G01N2800/347
摘要： The human PKD1 gene, responsible for autosomal dominant polycystic kidney disease (APKD), or adult onset polycystic kidney disease, has been identified. The genomic and cDNA sequences of the 5' end of PKD1 are disclosed.
摘要翻译：已经鉴定出负责常染色体显性多囊肾病（APKD）或成人发作性多囊性肾病的人类PKD1基因。公开了PKD1的5'末端的基因组和cDNA序列。

2. 发明授权

EP0782630B1 POLYCYSTIC KIDNEY DISEASE GENE 失效
标题翻译： NIERENPOLYCYSTOSE-GEN
公开(公告)号：EP0782630B1
公开(公告)日：2006-01-18
申请号：EP95938775.4
申请日：1995-10-11
申请人： GENZYME CORPORATION , THE JOHNS HOPKINS UNIVERSITY
发明人： KLINGER, Katherine, W. , LANDES, Gregory, M. , BURN, Timothy, C. , CONNORS, Timothy, D. , DACKOWSKI, William , GERMINO, Gregory , QIAN, Feng
IPC分类号： C12N15/12 , C12P21/06 , C12N1/20 , C12N15/63 , C12Q1/68 , C07H21/04 , C07K14/00 , A61K38/00 , A61K31/70
CPC分类号： C07K14/47 , A61K38/00 , G01N2800/347
摘要： The human PKD1 gene, responsible for autosomal dominant polycystic kidney disease (APKD), or adult onset polycystic kidney disease, has been identified. The genomic and cDNA sequences of the 5' end of PKD1 are disclosed.

3. 发明申请

WO1995034685A1 METHOD OF DETECTING CELLULAR MATERIAL 审中-公开
标题翻译：检测细胞材料的方法
公开(公告)号：WO1995034685A1
公开(公告)日：1995-12-21
申请号：PCT/US1995007466
申请日：1995-06-13
申请人： GENZYME CORPORATION
发明人： GENZYME CORPORATION , MAHR, Anna, M. , BOWE, Ann, E. , RUFF-ROBERTS, Alyson, L. , KLINGER, Katherine, W.
IPC分类号： C12Q01/70
CPC分类号： C12Q1/6806 , C12Q1/6841
摘要： The method of the present invention relates to a rapid procedure for detecting DNA in a cell, while preserving the morphology of the nucleus for analysis. The method comprises depositing a cell onto a polymeric membrane filter wherein the DNA contained in the cell is retained on the polymeric membrane filter and is available for binding with a fluorescently labeled nucleic acid probe, incubating the polymeric membrane filter with the labeled nucleic acid probe, and detecting the labeled nucleic acid probe wherein detection of the nucleic acid probe is indicative of the presence of the DNA. There are no separate permeabilization steps needed to permit the probes to enter the cell and hybridize to the DNA. The method is simple and quick and is applicable to the sample volumes found in clinical laboratories. The method of the present invention allows for analysis with single copy sequence probes of cells sorted onto, filtered onto, grown on or settled onto polymeric membrane filters. In addition, the method allows for the hybridization of probes containing single copy or repetitive DNA sequences to metaphase chromosomes as well as to interphase nuclei on membrane filters.
摘要翻译：本发明的方法涉及用于检测细胞中DNA的快速方法，同时保留用于分析的细胞核的形态。该方法包括将细胞沉积在聚合物膜过滤器上，其中包含在细胞中的DNA保留在聚合物膜过滤器上，并且可用于与荧光标记的核酸探针结合，将聚合物膜过滤器与标记的核酸探针，并检测标记的核酸探针，其中核酸探针的检测指示DNA的存在。不需要单独的透化步骤来允许探针进入细胞并与DNA杂交。该方法简便快捷，适用于临床实验室的样品量。本发明的方法允许用分选到，过滤到，生长在或沉积在聚合物膜过滤器上的细胞的单拷贝序列探针进行分析。此外，该方法允许将含有单拷贝或重复DNA序列的探针杂交到中期染色体以及膜过滤器上的间期核。

4. 发明申请

WO1997048797A1 NOVEL HUMAN CHROMOSOME 16 GENES, COMPOSITIONS, METHODS OF MAKING AND USING SAME 审中-公开
标题翻译：新型人体色素16基因，组合物，制备方法和使用方法
公开(公告)号：WO1997048797A1
公开(公告)日：1997-12-24
申请号：PCT/US1997000785
申请日：1997-01-16
申请人： GENZYME CORPORATION
发明人： GENZYME CORPORATION , LANDES, Gregory, M. , BURN, Timothy, C. , CONNORS, Timothy, D. , DACKOWSKI, William, R. , VAN RAAY, Terence, J. , KLINGER, Katherine, W.
IPC分类号： C12N15/12
CPC分类号： C07K14/47 , A01K2217/05 , C07K14/475
摘要： In accordance with the present invention, there are provided isolated nucleic acids encoding a human netrin, a human ATP binding cassette transporter, a human ribosomal L3 subtype, and a human augmenter of liver regeneration as well as isolated protein products encoded thereby. The present invention provides nucleic acid probes that hybridize to invention nucleic acids as well as isolated nucleic acids comprising unique gene sequences located on chromosome 16. Further provided are vectors containing invention nucleic acids, host cells transformed therewith, as well as transgenic non-human mammals that express invention polypeptides. The present invention includes antisense oligonucleotides, antibodies and compositions containing same. Additionally, the invention provides methods for identifying compounds that bind to invention polypeptides.
摘要翻译：根据本发明，提供编码人netrin，人ATP结合盒转运蛋白，人核糖体L3亚型和肝再生人增强剂的分离的核酸以及由此编码的分离的蛋白质产物。本发明提供了与本发明核酸杂交的核酸探针以及包含位于染色体16上的唯一基因序列的分离的核酸。进一步提供了含有本发明核酸，用其转化的宿主细胞以及转基因非人哺乳动物的载体其表达发明多肽。本发明包括反义寡核苷酸，抗体和含有它们的组合物。另外，本发明提供了鉴定结合本发明多肽的化合物的方法。

5. 发明申请

WO1994003111A1 PROCESS FOR OBTAINING A NON-LIQUID CELL SAMPLE 审中-公开
标题翻译：获得非液体细胞样品的方法
公开(公告)号：WO1994003111A1
公开(公告)日：1994-02-17
申请号：PCT/US1993007382
申请日：1993-08-05
申请人： GENZYME CORPORATION
发明人： GENZYME CORPORATION , KLINGER, Katherine, W. , RICHARDS, Brenda, L.
IPC分类号： A61B10/00
CPC分类号： A61B10/02 , A61B10/00 , A61B10/0051 , A61B2010/0216 , A61B2017/320012 , C12Q1/24 , C12Q1/6806
摘要： A simple, non-invasive process for obtaining a non-liquid cell sample for genetic analysis using a brush is described.
摘要翻译：描述了使用刷子获得用于遗传分析的非液体细胞样品的简单的非侵入性方法。

6. 发明申请

WO2010148249A1 COMPOSITIONS AND METHODS FOR MODULATION OF SMN2 SPLICING IN A SUBJECT 审中-公开
标题翻译： SMN2在主体中的分离调控的组成和方法
公开(公告)号：WO2010148249A1
公开(公告)日：2010-12-23
申请号：PCT/US2010/039077
申请日：2010-06-17
申请人： ISIS PHARMACEUTICALS, INC. , GENZYME CORPORATION , COLD SPRING HARBOR LABORATORY , BENNETT, C., Frank , HUNG, Gene , RIGO, Frank , KRAINER, Adrian, R. , HUA, Yimin , PASSINI, Marco, A. , SHIHABUDDIN, Lamya , CHENG, Seng, H. , KLINGER, Katherine, W.
发明人： BENNETT, C., Frank , HUNG, Gene , RIGO, Frank , KRAINER, Adrian, R. , HUA, Yimin , PASSINI, Marco, A. , SHIHABUDDIN, Lamya , CHENG, Seng, H. , KLINGER, Katherine, W.
IPC分类号： A61K31/7088
CPC分类号： A61K31/7088 , A61K31/712 , C12N15/113 , C12N2310/11 , C12N2320/33
摘要： Disclosed herein are compounds, compositions and methods for modulating splicing of SMN2 mRNA in a subject. Also provided are uses of disclosed compounds and compositions in the manufacture of a medicament for treatment of diseases and disorders, including spinal muscular atrophy.
摘要翻译：本文公开了用于调节受试者中SMN2 mRNA的剪接的化合物，组合物和方法。还提供了所公开的化合物和组合物在制备用于治疗疾病和病症（包括脊髓性肌肉萎缩）的药物中的用途。

7. 发明申请

WO1997002346A2 NOVEL HUMAN CHROMOSOME 16 GENES, COMPOSITIONS, METHODS OF MAKING AND USING SAME 审中-公开
标题翻译：新型人体色素16基因，组合物，制备方法和使用方法
公开(公告)号：WO1997002346A2
公开(公告)日：1997-01-23
申请号：PCT/US1996010469
申请日：1996-06-17
申请人： GENZYME CORPORATION
发明人： GENZYME CORPORATION , LANDES, Gregory, M. , BURN, Timothy, C. , CONNORS, Timothy, D. , DACKOWSKI, William, R. , KLINGER, Katherine, W. , VAN RAAY, Terence, J.
IPC分类号： C12N15/12
CPC分类号： C07K14/47 , A01K2217/05 , C07K14/475
摘要： In accordance with the present invention, there are provided isolated nucleic acids encoding a human netrin, a human ATPase binding cassette transporter, a human ribosomal L3 subtype, and a human augmenter of liver regeneration as well as isolated protein products encoded thereby. The present invention provides nucleic acid probes that hybridize to invention nucleic acids as well as isolated nucleic acids comprising unique gene sequences located on chromosome 16. Further provided are vectors containing invention nucleic acids, host cells transformed therewith, as well as transgenic non-human mammals that express invention polypeptides. The present invention includes antisense oligonucleotides, antibodies and compositions containing same. Additionally, the invention provides methods for identifying compounds that bind to invention polypeptides.
摘要翻译：根据本发明，提供了编码人netrin，人ATP酶结合盒转运蛋白，人核糖体L3亚型和肝再生人增强剂的分离的核酸以及由此编码的分离的蛋白质产物。本发明提供了与本发明核酸杂交的核酸探针以及包含位于染色体16上的唯一基因序列的分离的核酸。进一步提供了含有本发明核酸，用其转化的宿主细胞以及转基因非人哺乳动物的载体其表达发明多肽。本发明包括反义寡核苷酸，抗体和含有它们的组合物。另外，本发明提供了鉴定结合本发明多肽的化合物的方法。

8. 发明申请

WO1995026417A1 CULTURE AND ISOLATION OF FETAL CELLS FROM MATERNAL PERIPHERAL BLOOD 审中-公开
标题翻译：从外周血中培养和分离胎儿细胞
公开(公告)号：WO1995026417A1
公开(公告)日：1995-10-05
申请号：PCT/US1995003906
申请日：1995-03-29
申请人： GENZYME CORPORATION
发明人： GENZYME CORPORATION , PAVELKA, Karen , MAHR, Anna , KLINGER, Katherine, W.
IPC分类号： C12Q01/68
CPC分类号： C12N5/0641 , C12N2501/14 , C12Q1/6806 , C12Q1/6841 , G01N33/80
摘要： Methods for culturing and isolating fetal cells, e.g., fetal erythroid cells, from a sample of peripheral blood obtained from a pregnant woman are disclosed. Cells from the sample of peripheral blood are cultured in a medium containing a cell growth factor, e.g., an erythroid growth factor, e.g., erythropoietin, to culture fetal cells. Prior to culture, non-nucleated cells can be removed from the sample of peripheral blood and/or fetal cells can be enriched. Metaphase spreads can be prepared from cultured fetal cells. A fetal cell marker or a nucleic acid sequence of interest can be detected in cultured fetal cells. The cultured fetal cells can be used to determine fetal sex and to detect disease-causing mutations and chromosomal abnormalities in a fetus.
摘要翻译：公开了从孕妇获得的外周血样品中培养和分离胎儿细胞例如胎儿红细胞的方法。来自外周血样品的细胞在含有细胞生长因子例如红细胞生成因子如红细胞生成素的培养基中培养以培养胎儿细胞。在培养之前，可以从外周血样品中除去非成核细胞，和/或可以富集胎儿细胞。中期传播可以从培养的胎儿细胞制备。可以在培养的胎儿细胞中检测胎儿细胞标志物或感兴趣的核酸序列。培养的胎儿细胞可用于确定胎儿性别并检测胎儿中的致病突变和染色体异常。

9. 发明公开

EP0835307A2 NOVEL HUMAN CHROMOSOME 16 GENES, COMPOSITIONS, METHODS OF MAKING AND USING SAME 失效
标题翻译：新基因染色体从16，组合物，其生产和使用
公开(公告)号：EP0835307A2
公开(公告)日：1998-04-15
申请号：EP96923318.0
申请日：1996-06-17
申请人： GENZYME CORPORATION
发明人： LANDES, Gregory, M. , BURN, Timothy, C. , CONNORS, Timothy, D. , DACKOWSKI, William, R. , KLINGER, Katherine, W. , VAN RAAY, Terence, J.
IPC分类号： A01K67 , C07K14 , C07K16 , C12N5 , C12N15 , C12P21 , C12Q1 , C12R1
CPC分类号： C07K14/47 , A01K2217/05 , C07K14/475
摘要： In accordance with the present invention, there are provided isolated nucleic acids encoding a human netrin, a human ATPase binding cassette transporter, a human ribosomal L3 subtype, and a human augmenter of liver regeneration as well as isolated protein products encoded thereby. The present invention provides nucleic acid probes that hybridize to invention nucleic acids as well as isolated nucleic acids comprising unique gene sequences located on chromosome 16. Further provided are vectors containing invention nucleic acids, host cells transformed therewith, as well as transgenic non-human mammals that express invention polypeptides. The present invention includes antisense oligonucleotides, antibodies and compositions containing same. Additionally, the invention provides methods for identifying compounds that bind to invention polypeptides.

10. 发明公开

EP0914424A1 NOVEL HUMAN CHROMOSOME 16 GENES, COMPOSITIONS, METHODS OF MAKING AND USING SAME 失效
标题翻译：新基因16号染色体，组合物，其生产和使用
公开(公告)号：EP0914424A1
公开(公告)日：1999-05-12
申请号：EP97903844.0
申请日：1997-01-16
申请人： GENZYME CORPORATION
发明人： LANDES, Gregory, M. , BURN, Timothy, C. , CONNORS, Timothy, D. , DACKOWSKI, William, R. , VAN RAAY, Terence, J. , KLINGER, Katherine, W.
IPC分类号： G01N33 , C07K14 , C07K16 , C12N1 , C12N5 , C12N15 , C12P21
CPC分类号： C07K14/47 , A01K2217/05 , C07K14/475
摘要： In accordance with the present invention, there are provided isolated nucleic acids encoding a human netrin, a human ATP binding cassette transporter, a human ribosomal L3 subtype, and a human augmenter of liver regeneration as well as isolated protein products encoded thereby. The present invention provides nucleic acid probes that hybridize to invention nucleic acids as well as isolated nucleic acids comprising unique gene sequences located on chromosome 16. Further provided are vectors containing invention nucleic acids, host cells transformed therewith, as well as transgenic non-human mammals that express invention polypeptides. The present invention includes antisense oligonucleotides, antibodies and compositions containing same. Additionally, the invention provides methods for identifying compounds that bind to invention polypeptides.

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