专利快速检索-快速检索全球专利，免费商用专利数据库-IPRDB

1. 发明授权

US08535884B2 LMNA gene and its involvement in Hutchinson-Gilford Progeria Syndrome (HGPS) and arteriosclerosis 失效
标题翻译： LMNA基因及其参与Hutchinson-Gilford Progeria综合征（HGPS）和动脉硬化
公开(公告)号：US08535884B2
公开(公告)日：2013-09-17
申请号：US13229441
申请日：2011-09-09
申请人： B. Maria H. Eriksson , Francis S. Collins , Leslie B. Gordon , W. Ted Brown
发明人： B. Maria H. Eriksson , Francis S. Collins , Leslie B. Gordon , W. Ted Brown
IPC分类号： C12Q1/68 , C07H21/04 , C07H21/02
CPC分类号： C07K14/47 , C12Q1/6883 , C12Q1/6886 , C12Q2600/136 , C12Q2600/156 , G01N2500/04 , Y10T436/143333
摘要： Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), are also described. Oligonucleotides and other compounds for use in examples of the described methods are also provided, as are protein-specific binding agents, such as antibodies, that bind specifically to at least one epitope of a Lamin A variant protein preferentially compared to wildtype Lamin A, and methods of using such antibodies in diagnosis, treatment, and screening.
摘要翻译：本文公开了导致HGPS的LMNA基因中的点突变。这些突变激活LMNA基因内的隐性剪接位点，导致部分外显子11的缺失和产生比正常蛋白质短50个氨基酸的突变Lamin A蛋白产物。除了新型Lamin A变体蛋白和编码该变体的核酸之外，使用这些分子检测与受试者中的LMNA突变相关的生物学条件（例如，HGPS，动脉硬化和其他与年龄有关的疾病）的方法也是描述。还提供了用于所述方法的实施例的寡核苷酸和其它化合物，以及优选与野生型Lamin A相比特异性结合Lamin A变体蛋白的至少一个表位的蛋白质特异性结合剂，例如抗体，以及在诊断，治疗和筛查中使用这些抗体的方法。

2. 发明授权

US08034557B2 LMNA gene and its involvement in Hutchinson-Gilford Progeria Syndrome (HGPS) and arteriosclerosis 有权
标题翻译： LMNA基因及其参与Hutchinson-Gilford Progeria综合征（HGPS）和动脉硬化
公开(公告)号：US08034557B2
公开(公告)日：2011-10-11
申请号：US11870234
申请日：2007-10-10
申请人： B. Maria H. Eriksson , Francis S. Collins , Leslie B. Gordon , W. Ted Brown
发明人： B. Maria H. Eriksson , Francis S. Collins , Leslie B. Gordon , W. Ted Brown
IPC分类号： C12Q1/68 , C07H21/04
CPC分类号： C07K14/47 , C12Q1/6883 , C12Q1/6886 , C12Q2600/136 , C12Q2600/156 , G01N2500/04 , Y10T436/143333
摘要： Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), methods of treating such conditions, methods of selecting treatments, methods of screening for compounds that influence Lamin A activity, and methods of influencing the expression of LMNA or LMNA variants are also described. Oligonucleotides and other compounds for use in examples of the described methods are also provided, as are protein-specific binding agents, such as antibodies, that bind specifically to at least one epitope of a Lamin A variant protein preferentially compared to wildtype Lamin A, and methods of using such antibodies in diagnosis, treatment, and screening. Also provided are kits for carrying out the methods described herein.
摘要翻译：本文公开了导致HGPS的LMNA基因中的点突变。这些突变激活LMNA基因内的隐性剪接位点，导致部分外显子11的缺失和产生比正常蛋白短50个氨基酸的突变Lamin A蛋白产物。除了新型Lamin A变体蛋白和编码该变体的核酸之外，使用这些分子检测与受试者的LMNA突变相关的生物学条件（例如，HGPS，动脉硬化和其他与年龄有关的疾病）的方法，还描述了治疗这些病症，选择治疗方法，筛选影响Lamin A活性的化合物的方法，以及影响LMNA或LMNA变体表达的方法。还提供了用于所述方法的实施例的寡核苷酸和其它化合物，以及优选与野生型Lamin A相比特异性结合Lamin A变体蛋白的至少一个表位的蛋白质特异性结合剂，例如抗体，以及在诊断，治疗和筛查中使用这些抗体的方法。还提供了用于实施本文所述方法的试剂盒。

3. 发明申请

US20110027806A1 FARNESYLTRANSFERASE INHIBITORS FOR TREATMENT OF LAMINOPATHIES, CELLULAR AGING AND ATHEROSCLEROSIS 失效
标题翻译：用于治疗肌肉瘤，细胞衰老和甲状腺功能亢进症的纤维素酶抑制剂
公开(公告)号：US20110027806A1
公开(公告)日：2011-02-03
申请号：US12905838
申请日：2010-10-15
申请人： LESLIE B. GORDON , FRANCIS S. COLLINS , THOMAS GLOVER , MICHAEL W. GLYNN , BRIAN C. CAPELL , ADRIENNE D. COX , CHANNING J. DER
发明人： LESLIE B. GORDON , FRANCIS S. COLLINS , THOMAS GLOVER , MICHAEL W. GLYNN , BRIAN C. CAPELL , ADRIENNE D. COX , CHANNING J. DER
IPC分类号： G01N33/567 , C12Q1/02
CPC分类号： A61K31/4545 , A61K31/4709 , A61K45/06 , C07K14/47 , C12Q1/6883 , C12Q1/6886 , C12Q2600/136 , C12Q2600/156 , G01N33/68 , G01N2333/91171 , G01N2500/04 , G01N2500/10
摘要： Although it can be farnesylated, the mutant lamin A protein expressed in Hutchinson Gilford Progeria Syndrome (HGPS) cannot be defarnesylated because the characteristic mutation causes deletion of a cleavage site necessary for binding the protease ZMPSTE24 and effecting defarnesylation. The result is an aberrant farnesylated protein (called “progerin”) that alters normal lamin A function as a dominant negative, as well as assuming its own aberrant function through its association with the nuclear membrane. The retention of farnesylation, and potentially other abnormal properties of progerin and other abnormal lamin gene protein products, produces disease. Farnesyltransferase inhibitors (FTIs) (both direct effectors and indirect inhibitors) will inhibit the formation of progerin, cause a decrease in lamin A protein, and/or an increase prelamin A protein. Decreasing the amount of aberrant protein improves cellular effects caused by and progerin expression. Similarly, treatment with FTIs should improve disease status in progeria and other laminopathies. In addition, elements of atherosclerosis and aging in non-laminopathy individuals will improve after treatment with farnesyltransferase inhibitors.
摘要翻译：虽然它可以被法呢基化，但是在Hutchinson Gilford Progeria综合征（HGPS）中表达的突变体蛋白A蛋白质不能被脱甲酰化，因为特征性突变导致缺失结合蛋白酶ZMPSTE24所必需的切割位点并进行脱甲酰化。结果是异常的法呢基蛋白（称为“progerin”），其改变正常的lamin A功能作为显性阴性，并且通过与核膜的结合来假设其自身的异常功能。法呢基化的保留，以及progerin和其他异常的lamin基因蛋白产物的潜在的其他异常性质产生疾病。法尼基转移酶抑制剂（FTIs）（直接作用剂和间接抑制剂）将抑制progerin的形成，导致lamin A蛋白的降低和/或增加的prelamin A蛋白。减少异常蛋白质的量会改善由progerin表达引起的细胞效应。同样，FTIs治疗应改善progeria和其他层层病的疾病状况。此外，在用法呢基转移酶抑制剂治疗后，动脉粥样硬化和非层状病变个体的老化将会改善。

4. 发明授权

US5869611A Markers for detection of chromosome 16 rearrangements 失效
标题翻译：用于检测16号染色体重排的标记
公开(公告)号：US5869611A
公开(公告)日：1999-02-09
申请号：US742923
申请日：1996-11-01
申请人： Pu Liu , Francis S. Collins , Michael J. Siciliano , David Claxton
发明人： Pu Liu , Francis S. Collins , Michael J. Siciliano , David Claxton
IPC分类号： C07K14/47 , C12Q1/68 , G01N33/574 , C07K14/46 , C07K21/04
CPC分类号： G01N33/57426 , C07K14/4705 , C07K14/4716 , C12Q1/6886 , C07K2319/00 , C12Q2600/158 , G01N2800/382 , Y10S530/828 , Y10S530/841
摘要： The breakpoints of the pericentric inversion of chromosome 16 have been cloned. Two genes, one at each breakpoint, have also been identified, as well as several forms of the inversion 16 fusion gene. Diagnostic applications for chromosome 16 abnormalities and, particularly acute myeloid leukemia are also within the scope of the present invention.
摘要翻译： 16号染色体的中心倒置的断点已被克隆。两个基因，每个断点一个，也已被鉴定，以及几种形式的倒置16融合基因。染色体16异常特别是急性骨髓性白血病的诊断应用也在本发明的范围内。

5. 发明授权

US5837457A Markers for detection of chromosome 16 rearrangements 失效
公开(公告)号：US5837457A
公开(公告)日：1998-11-17
申请号：US533306
申请日：1995-09-25
申请人： Pu Liu , Francis S. Collins , Michael J. Siciliano , David Claxton
发明人： Pu Liu , Francis S. Collins , Michael J. Siciliano , David Claxton
IPC分类号： C07K14/47 , C12Q1/68 , G01N33/574 , H04N1/32
CPC分类号： G01N33/57426 , C07K14/4705 , C07K14/4716 , C12Q1/6886 , C07K2319/00 , C12Q2600/158 , G01N2800/382 , Y10S530/828 , Y10S530/841
摘要： The breakpoints of the pericentric inversion of chromosome 16 have been cloned. Two genes, one at each breakpoint, have also been identified, as well as several forms of the inversion 16 fusion gene. Diagnostic applications for chromosome 16 abnormalities and, particularly acute myeloid leukemia are also within the scope of the present invention.

6. 发明授权

US07838531B2 Farnesyltransferase inhibitors for treatment of laminopathies, cellular aging and atherosclerosis 有权
标题翻译：用于治疗层状病毒，细胞衰老和动脉粥样硬化的法呢基转移酶抑制剂
公开(公告)号：US07838531B2
公开(公告)日：2010-11-23
申请号：US11828117
申请日：2007-07-25
申请人： Leslie B. Gordon , Francis S. Collins , Thomas Glover , Michael W. Glynn , Brian C. Capell , Adrienne D. Cox , Channing J. Der
发明人： Leslie B. Gordon , Francis S. Collins , Thomas Glover , Michael W. Glynn , Brian C. Capell , Adrienne D. Cox , Channing J. Der
IPC分类号： A61K49/00 , A61K31/445 , C12Q1/48 , A01N43/42
CPC分类号： A61K31/4545 , A61K31/4709 , A61K45/06 , C07K14/47 , C12Q1/6883 , C12Q1/6886 , C12Q2600/136 , C12Q2600/156 , G01N33/68 , G01N2333/91171 , G01N2500/04 , G01N2500/10
摘要： Although it can be farnesylated, the mutant lamin A protein expressed in Hutchison Gilford Progeria Syndrome (HGPS) cannot be defarnesylated because the characteristic mutation causes deletion of a cleavage site necessary for binding the protease ZMPSTE24 and effecting defarnesylation. The result is an aberrant farnesylated protein (called “progerin”) that alters normal lamin A function as a dominant negative, as well as assuming its own aberrant function through its association with the nuclear membrane. The retention of farnesylation, and potentially other abnormal properties of progerin and other abnormal lamin gene protein products, produces disease. Farnesyltransferase inhibitors (FTIs) (both direct effectors and indirect inhibitors) will inhibit the formation of progerin, cause a decrease in lamin A protein, and/or an increase prelamin A protein. Decreasing the amount of aberrant protein improves cellular effects caused by and progerin expression. Similarly, treatment with FTIs should improve disease status in progeria and other laminopathies. In addition, elements of atherosclerosis and aging in non-laminopathy individuals will improve after treatment with farnesyltransferase inhibitors.
摘要翻译：虽然它可以被法呢基化，但是在和记吉尔福德综合症（Hutchison Gilford Progeria Syndrome，HGPS）中表达的突变体蛋白A蛋白不能被脱甲酰化，因为特征性突变导致结合蛋白酶ZMPSTE24所必需的切割位点的缺失并进行脱甲基化。结果是异常的法呢基蛋白（称为“progerin”），其改变正常的lamin A功能作为显性阴性，并且通过与核膜的结合来假设其自身的异常功能。法呢基化的保留，以及progerin和其他异常的lamin基因蛋白产物的潜在的其他异常性质产生疾病。法尼基转移酶抑制剂（FTIs）（直接作用剂和间接抑制剂）将抑制progerin的形成，导致lamin A蛋白的降低和/或增加的prelamin A蛋白。减少异常蛋白质的量会改善由progerin表达引起的细胞效应。同样，FTIs治疗应改善progeria和其他层层病的疾病状况。此外，在用法呢基转移酶抑制剂治疗后，动脉粥样硬化和非层状病变个体的老化将会改善。

7. 发明授权

US07297492B2 LMNA gene and its involvement in Hutchinson-Gilford Progeria Syndrome (HGPS) and arteriosclerosis 有权
标题翻译： LMNA基因及其参与Hutchinson-Gilford Progeria综合征（HGPS）和动脉硬化
公开(公告)号：US07297492B2
公开(公告)日：2007-11-20
申请号：US10943400
申请日：2004-09-17
申请人： B. Maria H. Eriksson , Francis S. Collins , Leslie B. Gordon , W. Ted Brown
发明人： B. Maria H. Eriksson , Francis S. Collins , Leslie B. Gordon , W. Ted Brown
IPC分类号： C12Q1/68 , C07H21/04
CPC分类号： C07K14/47 , C12Q1/6883 , C12Q1/6886 , C12Q2600/136 , C12Q2600/156 , G01N2500/04 , Y10T436/143333
摘要： Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), methods of treating such conditions, methods of selecting treatments, methods of screening for compounds that influence Lamin A activity, and methods of influencing the expression of LMNA or LMNA variants are also described. Oligonucleotides and other compounds for use in examples of the described methods are also provided, as are protein-specific binding agents, such as antibodies, that bind specifically to at least one epitope of a Lamin A variant protein preferentially compared to wildtype Lamin A, and methods of using such antibodies in diagnosis, treatment, and screening. Also provided are kits for carrying out the methods described herein.
摘要翻译：本文公开了导致HGPS的LMNA基因中的点突变。这些突变激活LMNA基因内的隐性剪接位点，导致部分外显子11的缺失和产生比正常蛋白短50个氨基酸的突变Lamin A蛋白产物。除了新型Lamin A变体蛋白和编码该变体的核酸之外，使用这些分子检测与受试者的LMNA突变相关的生物学条件（例如，HGPS，动脉硬化和其他与年龄相关的疾病）的方法，还描述了治疗这些病症，选择治疗方法，筛选影响Lamin A活性的化合物的方法，以及影响LMNA或LMNA变体表达的方法。还提供了用于所述方法的实施例的寡核苷酸和其它化合物，以及优选与野生型Lamin A相比特异性结合Lamin A变体蛋白的至少一个表位的蛋白质特异性结合剂，例如抗体，以及在诊断，治疗和筛查中使用这些抗体的方法。还提供了用于实施本文所述方法的试剂盒。

8. 发明授权

US06984487B1 Cystic fibrosis gene 失效
标题翻译：囊性纤维化基因
公开(公告)号：US06984487B1
公开(公告)日：2006-01-10
申请号：US08123864
申请日：1993-09-20
申请人： Lap-Chee Tsui , John R. Riordan , Francis S. Collins , Johanna M. Rommens , Michael C. Iannuzzi , Bat-Sheva Kerem , Mitchell L. Drumm , Manuel Buchwald
发明人： Lap-Chee Tsui , John R. Riordan , Francis S. Collins , Johanna M. Rommens , Michael C. Iannuzzi , Bat-Sheva Kerem , Mitchell L. Drumm , Manuel Buchwald
IPC分类号： C12Q1/68 , C07K14/00 , C07H21/04
CPC分类号： B82Y5/00 , A01K2207/15 , A01K2217/00 , A01K2217/05 , A01K2217/075 , A01K2227/105 , A01K2267/03 , A01K2267/0306 , A61K48/00 , C07K14/4712 , C07K16/18 , C07K16/28 , C12N15/8509 , C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2600/166 , C12Q2600/172
摘要： The cystic fibrosis gene and its gene product are described for both the normal and mutant forms. The genetic and protein information is used in developing DNA diagnosis, protein diagnosis, carrier and patient screening, drug and gene therapy, cloning of the gene and manufacture of the protein, and development of cystic fibrosis affected animals.
摘要翻译：描述了囊性纤维化基因及其基因产物，用于正常和突变形式。遗传和蛋白质信息用于开发DNA诊断，蛋白质诊断，载体和患者筛选，药物和基因治疗，克隆基因和制造蛋白质，以及发展囊性纤维化受影响的动物。

9. 发明授权

US06730777B1 Cystic fibrosis gene 失效
标题翻译：囊性纤维化基因
公开(公告)号：US06730777B1
公开(公告)日：2004-05-04
申请号：US08469630
申请日：1995-06-06
申请人： Lap-Chee Tsui , John R. Riordan , Francis S. Collins , Johanna M. Rommens , Michael C. Iannuzzi , Bat-Sheva Kerem , Mitchell L. Drumm , Manuel Buchwald
发明人： Lap-Chee Tsui , John R. Riordan , Francis S. Collins , Johanna M. Rommens , Michael C. Iannuzzi , Bat-Sheva Kerem , Mitchell L. Drumm , Manuel Buchwald
IPC分类号： C07K1400
CPC分类号： C12Q1/6883 , A01K2207/15 , A01K2217/00 , A01K2217/05 , A01K2217/075 , A01K2227/105 , A01K2267/0306 , A61K48/00 , B82Y5/00 , C07K14/4712 , C07K16/18 , C07K16/28 , C12N15/8509
摘要： The cystic fibrosis gene and its gene product are described for both the normal and mutant forms. The genetic and protein information is used in developing DNA diagnosis, protein diagnosis, carrier and patient screening, drug and gene therapy, cloning of the gene and manufacture of the protein, and development of cystic fibrosis affected animals.
摘要翻译：描述了囊性纤维化基因及其基因产物，用于正常和突变形式。遗传和蛋白质信息用于开发DNA诊断，蛋白质诊断，载体和患者筛选，药物和基因治疗，克隆基因和制造蛋白质，以及发展囊性纤维化受影响的动物。

10. 发明授权

US6013449A Probe-based analysis of heterozygous mutations using two-color labelling 失效
公开(公告)号：US6013449A
公开(公告)日：2000-01-11
申请号：US980032
申请日：1997-11-26
申请人： Joseph G. Hacia , Mark S. Chee , Francis S. Collins
发明人： Joseph G. Hacia , Mark S. Chee , Francis S. Collins
IPC分类号： C12Q1/68 , C07H21/04 , C12P19/34
CPC分类号： C12Q1/6827
摘要： The invention provides methods of analyzing a nucleic acid in a target sample for variant alleles. In such methods, a first-labelled control sample and a second-labelled target sample are hybridized to at least one set of probes. The control sample comprises a homozygous reference allele. The target sample comprises the homozygous reference allele, or variant alleles differing from the reference allele at a locus, or one variant allele differing from the reference allele at the locus and one reference allele. The probes in the probe set span the locus and are complementary to the reference allele. After hybridization the intensity of first and second label bound to each probe in the set is measured. This information is then used to indicate the presence of one variant allele and one reference allele, or the presence of two variant alleles in the target sample.

你已经成功收藏专利！

检索式保存成功!

IPRDB

热门服务

关于我们

友情链接

联系方式