-
公开(公告)号：US20110070588A1
公开(公告)日：2011-03-24
申请号：US12870568
申请日：2010-08-27
Applicant: Mary E. BRUNKOW , Sean PROLL , Bryan W. PAEPER , Karen STAEHLING-HAMPTON
Inventor： Mary E. BRUNKOW , Sean PROLL , Bryan W. PAEPER , Karen STAEHLING-HAMPTON
IPC: C12Q1/68
CPC classification number: C12Q1/6883 , C12Q2600/156
Abstract: The genomic locus responsible for Van Buchem's disease is narrowed to an approximately 92 kb region of human chromosome 17 at 17q21. Individuals afflicted with or carriers of Van Buchem's disease exhibit a 52 kb deletion within this 92 kb region. Methods are provided that permit the differentiation between individuals homozygous for and therefore afflicted with Van Buchem's disease, individuals heterozygous for and therefore carriers of Van Buchem's disease, and individuals who are normal with respect to Van Buchem's disease. Also provided are general methodologies for the detection of a wide variety of large genomic deletions.
Abstract translation: 负责Van Buchem病的基因组位点在17q21处被缩窄为人类染色体17的约92kb区域。 患有Van Buchem病的患者或携带者在该92 kb区域内显示52 kb的缺失。 提供了允许对Van Buchem氏病纯合并因此患病的个体之间的差异，对Van Buchem氏病是杂合的，因此携带者以及Van Buchem氏病正常的个体之间的区分。 还提供了用于检测各种大型基因组缺失的一般方法。
-
公开(公告)号：US20100003755A1
公开(公告)日：2010-01-07
申请号：US11825118
申请日：2007-07-03
Applicant: Mary E. Brunkow , Sean Proll , Bryan W. Paeper , Karen Staehling-Hampton
Inventor： Mary E. Brunkow , Sean Proll , Bryan W. Paeper , Karen Staehling-Hampton
IPC: C12N15/00
CPC classification number: C12Q1/6883 , C12Q2600/156
Abstract: The genomic locus responsible for Van Buchem's disease is narrowed to an approximately 92 kb region of human chromosome 17 at 17q21. Individuals afflicted with or carriers of Van Buchem's disease exhibit a 52 kb deletion within this 92 kb region. Methods are provided that permit the differentiation between individuals homozygous for and therefore afflicted with Van Buchem's disease, individuals heterozygous for and therefore carriers of Van Buchem's disease, and individuals who are normal with respect to Van Buchem's disease. Also provided are general methodologies for the detection of a wide variety of large genomic deletions.
Abstract translation: 负责Van Buchem病的基因组位点在17q21处被缩窄为人类染色体17的约92kb区域。 患有Van Buchem病的患者或携带者在该92 kb区域内显示52 kb的缺失。 提供了允许对Van Buchem氏病纯合并因此患病的个体之间的差异，对Van Buchem氏病是杂合的，因此是Van Buchem氏病携带者的个体以及Van Buchem氏病的正常个体。 还提供了用于检测各种大型基因组缺失的一般方法。
-
公开(公告)号：US20120129170A1
公开(公告)日：2012-05-24
申请号：US13342805
申请日：2012-01-03
Applicant: MARY E. BRUNKOW , SEAN PROLL , BRYAN W. PAEPER , KAREN STAEHLING-HAMPTON
Inventor： MARY E. BRUNKOW , SEAN PROLL , BRYAN W. PAEPER , KAREN STAEHLING-HAMPTON
IPC: C12Q1/68
CPC classification number: C12Q1/6883 , C12Q2600/156
Abstract: The genomic locus responsible for Van Buchem's disease is narrowed to an approximately 92 kb region of human chromosome 17 at 17q21. Individuals afflicted with or carriers of Van Buchem's disease exhibit a 52 kb deletion within this 92 kb region. Methods are provided that permit the differentiation between individuals homozygous for and therefore afflicted with Van Buchem's disease, individuals heterozygous for and therefore carriers of Van Buchem's disease, and individuals who are normal with respect to Van Buchem's disease. Also provided are general methodologies for the detection of a wide variety of large genomic deletions.
Abstract translation: 负责Van Buchem病的基因组位点在17q21处被缩窄为人类染色体17的约92kb区域。 患有Van Buchem病的患者或携带者在该92 kb区域内显示52 kb的缺失。 提供了允许对Van Buchem氏病纯合并因此患病的个体之间的差异，对Van Buchem氏病是杂合的，因此携带者以及Van Buchem氏病正常的个体之间的区分。 还提供了用于检测各种大型基因组缺失的一般方法。
-
公开(公告)号：US20060083740A1
公开(公告)日：2006-04-20
申请号：US10496284
申请日：2002-11-21
Applicant: Fred Ramsdell , Sean Proll , Karen Staehling-Hampton , Mark Appleby , Leon Garcia-Martinez
Inventor： Fred Ramsdell , Sean Proll , Karen Staehling-Hampton , Mark Appleby , Leon Garcia-Martinez
IPC: A61K39/395 , C07K16/24
CPC classification number: C07K16/2803 , A61K38/00 , A61K2039/505 , C07K14/70503 , C07K2317/56 , C07K2317/565 , Y02A50/397 , Y02A50/41 , Y02A50/423 , Y02A50/484
Abstract: The invention provides methods for modulating cytokine levels, GM-CSF levels and the immune system using CD83 nucleic acids, CD83 polypeptides, anti-CD83 antibodies and factors that influence CD83 activity or expression. The invention also provides mice having a mutant CD83 gene and mice having a transgenic CD83 gene, which are useful for defining the role of CD83 in the immune system and for identifying compounds that can modulate CD83 and the immune system.
Abstract translation: 本发明提供了使用CD83核酸，CD83多肽，抗CD83抗体和影响CD83活性或表达的因子调节细胞因子水平，GM-CSF水平和免疫系统的方法。 本发明还提供具有突变CD83基因的小鼠和具有转基因CD83基因的小鼠，其可用于定义CD83在免疫系统中的作用并鉴定可调节CD83和免疫系统的化合物。
-
5.发明授权Method for detecting an individual who is afflicted with or a carrier for Van Buchem's disease 失效用于检测患有Van Buchem病的患者或携带者的方法公开(公告)号：US08110357B2
公开(公告)日：2012-02-07
申请号：US12870568
申请日：2010-08-27
Applicant: Mary E Brunkow , Sean Proll , Brian W Paeper , Karen Staehling-Hampton
Inventor： Mary E Brunkow , Sean Proll , Brian W Paeper , Karen Staehling-Hampton
IPC: C12Q1/68
CPC classification number: C12Q1/6883 , C12Q2600/156
Abstract: The genomic locus responsible for Van Buchem's disease is narrowed to an approximately 92 kb region of human chromosome 17 at 17q21. Individuals afflicted with or carriers of Van Buchem's disease exhibit a 52 kb deletion within this 92 kb region. Methods are provided that permit the differentiation between individuals homozygous for and therefore afflicted with Van Buchem's disease, individuals heterozygous for and therefore carriers of Van Buchem's disease, and individuals who are normal with respect to Van Buchem's disease. Also provided are general methodologies for the detection of a wide variety of large genomic deletions.
Abstract translation: 负责Van Buchem病的基因组位点在17q21处被缩窄为人类染色体17的约92kb区域。 患有Van Buchem病的患者或携带者在该92 kb区域内显示52 kb的缺失。 提供了允许对Van Buchem氏病纯合并因此患病的个体之间的差异，对Van Buchem氏病是杂合的，因此携带者以及Van Buchem氏病正常的个体之间的区分。 还提供了用于检测各种大型基因组缺失的一般方法。
-
Patent Agency Ranking
公开(公告)号：US07488582B2
公开(公告)日：2009-02-10
申请号：US11555982
申请日：2006-11-02
Applicant: Olivier Pourquie , Karen Staehling-Hampton , Kym Delventhal
Inventor： Olivier Pourquie , Karen Staehling-Hampton , Kym Delventhal
CPC classification number: C12Q1/6883 , C12Q2600/156
Abstract: The present invention relates to methods of diagnosing spondylocostal dysostosis (SCD) disorders, such as Jarcho-Levin syndrome, in humans for use in genetic counseling and linkage analyses. Methods and compositions for measuring the presence or absence of a specific mutation to Mesp2 associated with Jarcho-Levin syndrome, alone or in combination with other mutations associated with spondylocostal dysostosis, are provided.
Abstract translation: 本发明涉及用于人类用于遗传咨询和连锁分析的脊椎骨质积水（SCD）病症如Jarcho-Levin综合征的诊断方法。 提供了用于测量与Jarcho-Levin综合征相关的Mesp2的特异性突变的存在或不存在的方法和组合物，其单独或与与脊椎骨结核症状相关的其它突变组合。
-
公开(公告)号：US20110144309A1
公开(公告)日：2011-06-16
申请号：US12941689
申请日：2010-11-08
Applicant: Fred Ramsdell , Sean C. Proll , Karen Staehling-Hampton , Mark W. Appleby , Leon Fernando Garcia-Martinez
Inventor： Fred Ramsdell , Sean C. Proll , Karen Staehling-Hampton , Mark W. Appleby , Leon Fernando Garcia-Martinez
IPC: C07K16/18
CPC classification number: C07K16/2803 , A61K38/00 , A61K2039/505 , C07K14/70503 , C07K2317/56 , C07K2317/565 , Y02A50/397 , Y02A50/41 , Y02A50/423 , Y02A50/484
Abstract: The invention provides methods for modulating cytokine levels, GM-CSF levels and the immune system using CD83 nucleic acids, CD83 polypeptides, anti-CD83 antibodies and factors that influence CD83 activity or expression. The invention also provides mice having a mutant CD83 gene and mice having a transgenic CD83 gene, which are useful for defining the role of CD83 in the immune system and for identifying compounds that can modulate CD83 and the immune system.
Abstract translation: 本发明提供了使用CD83核酸，CD83多肽，抗CD83抗体和影响CD83活性或表达的因子调节细胞因子水平，GM-CSF水平和免疫系统的方法。 本发明还提供具有突变CD83基因的小鼠和具有转基因CD83基因的小鼠，其可用于定义CD83在免疫系统中的作用并鉴定可调节CD83和免疫系统的化合物。
-
公开(公告)号：US07850968B2
公开(公告)日：2010-12-14
申请号：US12572592
申请日：2009-10-02
Applicant: Fred Ramsdell , Sean C Proll , Karen Staehling-Hampton , Mark W. Appleby , Leon Fernando Garcia-Martinez
Inventor： Fred Ramsdell , Sean C Proll , Karen Staehling-Hampton , Mark W. Appleby , Leon Fernando Garcia-Martinez
CPC classification number: C07K16/2803 , A61K38/00 , A61K2039/505 , C07K14/70503 , C07K2317/56 , C07K2317/565 , Y02A50/397 , Y02A50/41 , Y02A50/423 , Y02A50/484
Abstract: The invention provides methods for modulating cytokine levels, GM-CSF levels and the immune system using CD83 nucleic acids, CD83 polypeptides, anti-CD83 antibodies and factors that influence CD83 activity or expression. The invention also provides mice having a mutant CD83 gene and mice having a transgenic CD83 gene, which are useful for defining the role of CD83 in the immune system and for identifying compounds that can modulate CD83 and the immune system.
Abstract translation: 本发明提供了使用CD83核酸，CD83多肽，抗CD83抗体和影响CD83活性或表达的因子调节细胞因子水平，GM-CSF水平和免疫系统的方法。 本发明还提供具有突变CD83基因的小鼠和具有转基因CD83基因的小鼠，其可用于定义CD83在免疫系统中的作用并鉴定可调节CD83和免疫系统的化合物。
-
公开(公告)号：US20100081797A1
公开(公告)日：2010-04-01
申请号：US12572592
申请日：2009-10-02
Applicant: Fred Ramsdell , Sean C. Proll , Karen Staehling-Hampton , Mark W. Appleby , Leon Fernando Garcia-Martinez
Inventor： Fred Ramsdell , Sean C. Proll , Karen Staehling-Hampton , Mark W. Appleby , Leon Fernando Garcia-Martinez
IPC: C07K16/00
CPC classification number: C07K16/2803 , A61K38/00 , A61K2039/505 , C07K14/70503 , C07K2317/56 , C07K2317/565 , Y02A50/397 , Y02A50/41 , Y02A50/423 , Y02A50/484
Abstract: The invention provides methods for modulating cytokine levels, GM-CSF levels and the immune system using CD83 nucleic acids, CD83 polypeptides, anti-CD83 antibodies and factors that influence CD83 activity or expression. The invention also provides mice having a mutant CD83 gene and mice having a transgenic CD83 gene, which are useful for defining the role of CD83 in the immune system and for identifying compounds that can modulate CD83 and the immune system.
Abstract translation: 本发明提供了使用CD83核酸，CD83多肽，抗CD83抗体和影响CD83活性或表达的因子调节细胞因子水平，GM-CSF水平和免疫系统的方法。 本发明还提供具有突变CD83基因的小鼠和具有转基因CD83基因的小鼠，其可用于定义CD83在免疫系统中的作用并鉴定可调节CD83和免疫系统的化合物。
-
公开(公告)号：US07618629B2
公开(公告)日：2009-11-17
申请号：US10496284
申请日：2002-11-21
Applicant: Fred Ramsdell , Sean C. Proll , Karen Staehling-Hampton , Mark W. Appleby , Leon Fernando Garcia-Martinez
Inventor： Fred Ramsdell , Sean C. Proll , Karen Staehling-Hampton , Mark W. Appleby , Leon Fernando Garcia-Martinez
CPC classification number: C07K16/2803 , A61K38/00 , A61K2039/505 , C07K14/70503 , C07K2317/56 , C07K2317/565 , Y02A50/397 , Y02A50/41 , Y02A50/423 , Y02A50/484
Abstract: The invention provides methods for modulating cytokine levels, GM-CSF levels and the immune system using CD83 nucleic acids, CD83 polypeptides, anti-CD83 antibodies and factors that influence CD83 activity or expression. The invention also provides mice having a mutant CD83 gene and mice having a transgenic CD83 gene, which are useful for defining the role of CD83 in the immune system and for identifying compounds that can modulate CD83 and the immune system.
Abstract translation: 本发明提供了使用CD83核酸，CD83多肽，抗CD83抗体和影响CD83活性或表达的因子调节细胞因子水平，GM-CSF水平和免疫系统的方法。 本发明还提供具有突变CD83基因的小鼠和具有转基因CD83基因的小鼠，其可用于定义CD83在免疫系统中的作用并鉴定可调节CD83和免疫系统的化合物。
-
-
-
-
-
-
-
-
-
Search Results
12
records
(took 0.016 seconds)
