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1. 发明申请

US20080261231A1 DIABETES GENE 审中-公开
标题翻译：糖尿病基因
公开(公告)号：US20080261231A1
公开(公告)日：2008-10-23
申请号：US12105512
申请日：2008-04-18
申请人： Maura McGrail , Deanna L. Russell , Donna M. Shattuck
发明人： Maura McGrail , Deanna L. Russell , Donna M. Shattuck
IPC分类号： C12Q1/68 , C07H21/04 , G01N33/68
CPC分类号： C12Q1/6897 , A01K2217/05 , A01K2217/075 , A61K38/00 , C07K14/4713 , C12Q1/6883 , C12Q2600/156 , C12Q2600/172
摘要： The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect human diabetes mellitus predisposing gene, specifically the angiotensinogen (AGT) gene, some mutant alleles of which cause susceptibility to insulin-dependent diabetes mellitus (IDDM). More specifically, the invention relates to germline mutations in the AGT gene and their use in the diagnosis of predisposition to diabetes. The invention also relates to the prophylaxis and/or therapy of diabetes associated with a mutation in the AGT gene. The invention further relates to the screening of drugs for diabetes therapy. Finally, the invention relates to the screening of the AGT gene for mutations, which are useful for diagnosing the predisposition to diabetes.
摘要翻译：本发明一般涉及人类遗传学领域。具体地说，本发明涉及用于分离和检测人类糖尿病易感基因，特别是血管紧张素原（AGT）基因，一些引起胰岛素依赖性糖尿病易感性的突变等位基因（IDDM）的方法和材料。更具体地，本发明涉及AGT基因中的种系突变及其在诊断糖尿病易感性中的用途。本发明还涉及与AGT基因突变相关的糖尿病的预防和/或治疗。本发明还涉及用于糖尿病治疗的药物的筛选。最后，本发明涉及用于突变的AGT基因的筛选，其可用于诊断糖尿病的倾向。

2. 发明授权

US6162897A 17q-linked breast and ovarian cancer susceptibility gene 失效
标题翻译： 17q连锁乳腺癌和卵巢癌易感基因
公开(公告)号：US6162897A
公开(公告)日：2000-12-19
申请号：US850727
申请日：1997-05-02
申请人： Mark H. Skolnick , David E. Goldgar , Yoshio Miki , Jeff Swenson , Alexander Kamb , Keith D. Harshman , Donna M. Shattuck-Eidens , Sean V. Tavtigian , Roger W. Wiseman , P. Andrew Futreal
发明人： Mark H. Skolnick , David E. Goldgar , Yoshio Miki , Jeff Swenson , Alexander Kamb , Keith D. Harshman , Donna M. Shattuck-Eidens , Sean V. Tavtigian , Roger W. Wiseman , P. Andrew Futreal
IPC分类号： A61K38/00 , A61K48/00 , C07K14/47 , C07K14/82 , C12N15/12 , C12Q1/68 , C07K1/00 , A01N37/18 , A61K39/395 , G01N33/53
CPC分类号： C07K14/4703 , A01K2217/05 , A61K38/00 , A61K48/00 , C07K14/4702 , C07K14/82 , C12Q1/6886 , C12Q2600/136 , C12Q2600/172
摘要： The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human breast and ovarian cancer predisposing gene (BRCA1), some mutant alleles of which cause susceptibility to cancer, in particular breast and ovarian cancer. More specifically, the invention relates to germline mutations in the BRCA1 gene and their use in the diagnosis of predisposition to breast and ovarian cancer. The present invention further relates to somatic mutations in the BRCA1 gene in human breast and ovarian cancer and their use in the diagnosis and prognosis of human breast and ovarian cancer. Additionally, the invention relates to somatic mutations in the BRCA1 gene in other human cancers and their use in the diagnosis and prognosis of human cancers. The invention also relates to the therapy of human cancers which have a mutation in the BRCA1 gene, including gene therapy, protein replacement therapy and protein mimetics. The invention further relates to the screening of drugs for cancer therapy. Finally, the invention relates to the screening of the BRCA1 gene for mutations, which are useful for diagnosing the predisposition to breast and ovarian cancer.
摘要翻译：本发明一般涉及人类遗传学领域。具体地，本发明涉及用于分离和检测人乳腺癌和卵巢癌易感基因（BRCA1）的一些突变等位基因，特别是乳腺癌和卵巢癌的易感性的突变等位基因的方法和材料。更具体地，本发明涉及BRCA1基因中的种系突变及其在诊断乳腺癌和卵巢癌易感性中的用途。本发明还涉及人乳腺癌和卵巢癌中BRCA1基因的体细胞突变及其在人乳腺癌和卵巢癌诊断和预后中的应用。另外本发明涉及其他人类癌症中BRCA1基因的体细胞突变及其在人类癌症诊断和预后中的应用。本发明还涉及在BRCA1基因中具有突变的人类癌症的治疗，包括基因治疗，蛋白质替代疗法和蛋白质模拟物。本发明还涉及用于癌症治疗的药物的筛选。最后，本发明涉及用于突变的BRCA1基因的筛选，其可用于诊断乳腺和卵巢癌的易感性。

3. 发明授权

US5710001A 17q-linked breast and ovarian cancer susceptibility gene 失效
公开(公告)号：US5710001A
公开(公告)日：1998-01-20
申请号：US487002
申请日：1995-06-07
申请人： Mark H. Skolnick , David E. Goldgar , Yoshio Miki , Jeff Swenson , Alexander Kamb , Keith D. Harshman , Donna M. Shattuck-Eidens , Sean V. Tavtigian , Roger W. Wiseman , P. Andrew Futreal
发明人： Mark H. Skolnick , David E. Goldgar , Yoshio Miki , Jeff Swenson , Alexander Kamb , Keith D. Harshman , Donna M. Shattuck-Eidens , Sean V. Tavtigian , Roger W. Wiseman , P. Andrew Futreal
IPC分类号： A61K38/00 , A61K48/00 , C07K14/47 , C07K14/82 , C12N15/12 , C12Q1/68 , C07H21/02 , C07H21/04 , C12P19/34
CPC分类号： C07K14/4703 , C07K14/82 , C12Q1/6886 , A01K2217/05 , A61K38/00 , A61K48/00 , C12Q2600/136 , C12Q2600/172
摘要： The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human breast and ovarian cancer predisposing gene (BRCA1), some mutant alleles of which cause susceptibility to cancer, in particular breast and ovarian cancer. More specifically, the invention relates to germline mutations in the BRCA1 gene and their use in the diagnosis of predisposition to breast and ovarian cancer. The present invention further relates to somatic mutations in the BRCA1 gene in human breast and ovarian cancer and their use in the diagnosis and prognosis of human breast and ovarian cancer. Additionally, the invention relates to somatic mutations in the BRCA1 gene in other human cancers and their use in the diagnosis and prognosis of human cancers. The invention also relates to the therapy of human cancers which have a mutation in the BRCA1 gene, including gene therapy, protein replacement therapy and protein mimetics. The invention further relates to the screening of drugs for cancer therapy. Finally, the invention relates to the screening of the BRCA1 gene for mutations, which are useful for diagnosing the predisposition to breast and ovarian cancer.

4. 发明授权

US5709999A Linked breast and ovarian cancer susceptibility gene 失效
标题翻译：乳腺癌和卵巢癌易感基因
公开(公告)号：US5709999A
公开(公告)日：1998-01-20
申请号：US483553
申请日：1995-06-07
申请人： Donna M. Shattuck-Eidens , Jacques Simard , Francine Durocher , Mitsuuru Emi , Yusuke Nakamura
发明人： Donna M. Shattuck-Eidens , Jacques Simard , Francine Durocher , Mitsuuru Emi , Yusuke Nakamura
IPC分类号： A61K38/00 , A61K48/00 , C07K14/47 , C07K14/82 , C12N15/12 , C12Q1/68 , C07H21/02 , C07H21/04 , C12P19/34
CPC分类号： C07K14/82 , C07K14/4703 , C12Q1/6886 , A01K2217/05 , A61K38/00 , A61K48/00 , C12Q2600/136 , C12Q2600/172
摘要： The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human breast and ovarian cancer predisposing gene (BRCA1), some mutant alleles of which cause susceptibility to cancer, in particular breast and ovarian cancer. More specifically, the invention relates to germline mutations in the BRCA1 gene and their use in the diagnosis of predisposition to breast and ovarian cancer. The present invention further relates to somatic mutations in the BRCA1 gene in human breast and ovarian cancer and their use in the diagnosis and prognosis of human breast and ovarian cancer. Additionally, the invention relates to somatic mutations in the BRCA1 gene in other human cancers and their use in the diagnosis and prognosis of human cancers. The invention also relates to the therapy of human cancers which have a mutation in the BRCA1 gene, including gene therapy, protein replacement therapy and protein mimetics. The invention further relates to the screening of drugs for cancer therapy. Finally, the invention relates to the screening of the BRCA1 gene for mutations, which are useful for diagnosing the predisposition to breast and ovarian cancer.
摘要翻译：本发明一般涉及人类遗传学领域。具体地，本发明涉及用于分离和检测人乳腺癌和卵巢癌易感基因（BRCA1）的一些突变等位基因，特别是乳腺癌和卵巢癌的易感性的突变等位基因的方法和材料。更具体地，本发明涉及BRCA1基因中的种系突变及其在诊断乳腺癌和卵巢癌易感性中的用途。本发明还涉及人乳腺癌和卵巢癌中BRCA1基因的体细胞突变及其在人乳腺癌和卵巢癌诊断和预后中的应用。另外本发明涉及其他人类癌症中BRCA1基因的体细胞突变及其在人类癌症诊断和预后中的应用。本发明还涉及在BRCA1基因中具有突变的人类癌症的治疗，包括基因治疗，蛋白质替代疗法和蛋白质模拟物。本发明还涉及用于癌症治疗的药物的筛选。最后，本发明涉及用于突变的BRCA1基因的筛选，其可用于诊断乳腺和卵巢癌的易感性。

5. 发明授权

US08034564B2 Obesity gene and use thereof 有权
标题翻译：肥胖基因及其用途
公开(公告)号：US08034564B2
公开(公告)日：2011-10-11
申请号：US11740378
申请日：2007-04-26
申请人： Donna M. Shattuck , Steven Stone , Deanna L. Russell , Victor Abkevich , Steven Hunt
发明人： Donna M. Shattuck , Steven Stone , Deanna L. Russell , Victor Abkevich , Steven Hunt
IPC分类号： C07H21/02 , C07H21/04 , C12Q1/68 , C12P19/34
CPC分类号： C12Q1/6883 , C12Q2600/156 , G01N2800/044
摘要： The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human obesity and diabetes predisposing gene, specifically the TBC1D1 gene, some mutant alleles of which cause susceptibility to obesity and/or diabetes. More specifically, the invention relates to germline mutations in the TBC1D1 gene and their use in the diagnosis of predisposition to obesity and diabetes. Finally, the invention relates to the screening of the TBC1D1 gene for mutations/alterations, which are useful for diagnosing the predisposition to obesity.
摘要翻译：本发明一般涉及人类遗传学领域。具体而言，本发明涉及用于分离和检测人类肥胖症和糖尿病易感基因，特别是TBC1D1基因的一些突变等位基因导致肥胖和/或糖尿病易感性的方法和材料。更具体地，本发明涉及TBC1D1基因中的种系突变及其在诊断肥胖和糖尿病易感性中的用途。最后，本发明涉及用于突变/改变的TBC1D1基因的筛选，其可用于诊断肥胖倾向。

6. 发明授权

US06902888B1 Diabetes gene 失效
标题翻译：糖尿病基因
公开(公告)号：US06902888B1
公开(公告)日：2005-06-07
申请号：US09573425
申请日：2000-05-16
申请人： Maura McGrail , Deanna L. Russell , Donna M. Shattuck
发明人： Maura McGrail , Deanna L. Russell , Donna M. Shattuck
IPC分类号： A61K38/00 , C07K14/47 , C12Q1/68 , C07H21/02 , C07H21/04 , C12P19/34
CPC分类号： C12Q1/6897 , A01K2217/05 , A01K2217/075 , A61K38/00 , C07K14/4713 , C12Q1/6883 , C12Q2600/156 , C12Q2600/172
摘要： The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect human diabetes mellitus predisposing gene, specifically the angiotensinogen (AGT) gene, some mutant alleles of which cause susceptibility to insulin-dependent diabetes mellitus (IDDM). More specifically, the invention relates to gernline mutations in the AGT gene and their use in the diagnosis of predisposition to diabetes. The invention also relates to the prophylaxis and/or therapy of diabetes associated with a mutation in the AGT gene. The invention further relates to the screening of drugs for diabetes therapy. Finally, the invention relates to the screening of the AGT gene for mutations, which are useful for diagnosing the predisposition to diabetes.
摘要翻译：本发明一般涉及人类遗传学领域。具体地说，本发明涉及用于分离和检测人类糖尿病易感基因，特别是血管紧张素原（AGT）基因，一些引起胰岛素依赖性糖尿病易感性的突变等位基因（IDDM）的方法和材料。更具体地，本发明涉及AGT基因中的谷氨酸突变及其在诊断糖尿病易感性中的用途。本发明还涉及与AGT基因突变相关的糖尿病的预防和/或治疗。本发明还涉及用于糖尿病治疗的药物的筛选。最后，本发明涉及用于突变的AGT基因的筛选，其可用于诊断糖尿病的倾向。

7. 发明授权

US07314713B1 Obesity gene and use thereof 有权
标题翻译：肥胖基因及其用途
公开(公告)号：US07314713B1
公开(公告)日：2008-01-01
申请号：US10655543
申请日：2003-09-03
申请人： Donna M. Shattuck , Steven Stone , Deanna L. Russell , Victor Abkevich , Steven Hunt
发明人： Donna M. Shattuck , Steven Stone , Deanna L. Russell , Victor Abkevich , Steven Hunt
IPC分类号： C12Q1/68 , C12P19/34 , C07H21/02 , C07H21/04 , G01N33/53
CPC分类号： C12Q1/6883 , C12Q2600/156 , G01N2800/044
摘要： The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human obesity and diabetes predisposing gene, specifically the TBC1D1 gene, some mutant alleles of which cause susceptibility to obesity and/or diabetes. More specifically, the invention relates to germline mutations in the TBC1D1 gene and their use in the diagnosis of predisposition to obesity and diabetes. Finally, the invention relates to the screening of the TBC1D1 gene for mutations/alterations, which are useful for diagnosing the predisposition to obesity.
摘要翻译：本发明一般涉及人类遗传学领域。具体而言，本发明涉及用于分离和检测人类肥胖症和糖尿病易感基因，特别是TBC1D1基因的一些突变等位基因导致肥胖和/或糖尿病易感性的方法和材料。更具体地，本发明涉及TBC1D1基因中的种系突变及其在诊断肥胖和糖尿病易感性中的用途。最后，本发明涉及用于突变/改变的TBC1D1基因的筛选，其可用于诊断肥胖倾向。

8. 发明授权

US5443978A Chrysanthemyl diphosphate synthase, corresponding genes and use in pyrethrin synthesis 失效
标题翻译：菊酸二磷酸合酶，相应的基因和用于除虫菊酯合成
公开(公告)号：US5443978A
公开(公告)日：1995-08-22
申请号：US82844
申请日：1993-06-25
申请人： Suzanne R. Ellenberger , Galen D. Peiser , Russell N. Bell , Charles E. Hussey, Jr. , Donna M. Shattuck-Eidens , Bradley D. Swedlund
发明人： Suzanne R. Ellenberger , Galen D. Peiser , Russell N. Bell , Charles E. Hussey, Jr. , Donna M. Shattuck-Eidens , Bradley D. Swedlund
IPC分类号： C12N15/09 , C12N1/19 , C12N1/21 , C12N9/10 , C12N15/54 , C12P9/00 , C12R1/19 , C12R1/865
CPC分类号： C12N9/1085
摘要： This invention provides a purified chrysanthemyl diphosphate synthase (CDS), a method for the purification of CDS from Chrysanthemum cinerariaefolium, and an amino acid sequence of the isolated CDS. Also provided is a cDNA encoding the CDS, a nucleotide sequence of the CDS gene, and a derived amino acid sequence of the encoded CDS protein. The CDS gene is useful in the enzymatic production of the natural stereospecific configuration of chrysanthemyl derivatives which are useful for the synthesis of pyrethrins, pyrethroids, derivatives thereof, as well as other classes of metabolites.
摘要翻译：本发明提供了一种纯化的菊花二磷酸合成酶（CDS），一种从菊花中纯化CDS的方法和分离的CDS的氨基酸序列。还提供了编码CDS的cDNA，CDS基因的核苷酸序列和编码的CDS蛋白的衍生氨基酸序列。 CDS基因可用于天然立体特异性构型的菊花衍生物的酶促生产，其可用于合成除虫菊酯，拟除虫菊酯，其衍生物以及其它类别的代谢物。

9. 发明授权

US07374884B2 Diabetes gene 失效
标题翻译：糖尿病基因
公开(公告)号：US07374884B2
公开(公告)日：2008-05-20
申请号：US10845572
申请日：2004-05-13
申请人： Maura McGrail , Deanna L. Russell , Donna M. Shattuck
发明人： Maura McGrail , Deanna L. Russell , Donna M. Shattuck
IPC分类号： C12Q1/68 , C12P19/34 , C07H21/02 , C07H21/04
CPC分类号： C12Q1/6897 , A01K2217/05 , A01K2217/075 , A61K38/00 , C07K14/4713 , C12Q1/6883 , C12Q2600/156 , C12Q2600/172
摘要： The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect human diabetes mellitus predisposing gene, specifically the angiotensinogen (AGT) gene, some mutant alleles of which cause susceptibility to insulin-dependent diabetes mellitus (IDDM). More specifically, the invention relates to germline mutations in the AGT gene and their use in the diagnosis of predisposition to diabetes. The invention also relates to the prophylaxis and/or therapy of diabetes associated with a mutation in the AGT gene. The invention further relates to the screening of drugs for diabetes therapy. Finally, the invention relates to the screening of the AGT gene for mutations, which are useful for diagnosing the predisposition to diabetes.
摘要翻译：本发明一般涉及人类遗传学领域。具体来说，本发明涉及用于分离和检测人类糖尿病易感基因，特别是血管紧张素原（AGT）基因，其一些突变等位基因导致对胰岛素依赖性糖尿病（IDDM）易感性的方法和材料。更具体地，本发明涉及AGT基因中的种系突变及其在诊断糖尿病易感性中的用途。本发明还涉及与AGT基因突变相关的糖尿病的预防和/或治疗。本发明还涉及用于糖尿病治疗的药物的筛选。最后，本发明涉及用于突变的AGT基因的筛选，其可用于诊断糖尿病的倾向。

10. 发明授权

US5753441A 170-linked breast and ovarian cancer susceptibility gene 失效
标题翻译： 170连锁的乳腺癌和卵巢癌易感基因
公开(公告)号：US5753441A
公开(公告)日：1998-05-19
申请号：US488011
申请日：1996-01-05
申请人： Mark H. Skolnick , David E. Goldgar , Yoshio Miki , Jeff Swenson , Alexander Kamb , Keith D. Harshman , Donna M. Shattuck-Eidens , Sean V. Tavtigian , Roger W. Wiseman , P. Andrew Futreal
发明人： Mark H. Skolnick , David E. Goldgar , Yoshio Miki , Jeff Swenson , Alexander Kamb , Keith D. Harshman , Donna M. Shattuck-Eidens , Sean V. Tavtigian , Roger W. Wiseman , P. Andrew Futreal
IPC分类号： A61K38/00 , A61K48/00 , C07K14/47 , C07K14/82 , C12Q1/68 , C07H21/02 , C07H21/04 , C12P19/34
CPC分类号： C07K14/82 , C07K14/4703 , C12Q1/6886 , A01K2217/05 , A61K38/00 , A61K48/00 , C12Q2600/156 , C12Q2600/172
摘要： The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human breast and ovarian cancer predisposing gene (BRCA1), some mutant alleles of which cause susceptibility to cancer, in particular breast and ovarian cancer. More specifically, the invention relates to germline mutations in the BRCA1 gene and their use in the diagnosis of predisposition to breast and ovarian cancer. The present invention further relates to somatic mutations in the BRCA1 gene in human breast and ovarian cancer and their use in the diagnosis and prognosis of human breast and ovarian cancer. Additionally, the invention relates to somatic mutations in the BRCA1 gene in other human cancers and their use in the diagnosis and prognosis of human cancers. The invention also relates to the therapy of human cancers which have a mutation in the BRCA1 gene, including gene therapy, protein replacement therapy and protein mimetics. The invention further relates to the screening of drugs for cancer therapy. Finally, the invention relates to the screening of the BRCA1 gene for mutations, which are useful for diagnosing the predisposition to breast and ovarian cancer.
摘要翻译：本发明一般涉及人类遗传学领域。具体地，本发明涉及用于分离和检测人乳腺癌和卵巢癌易感基因（BRCA1）的一些突变等位基因，特别是乳腺癌和卵巢癌的易感性的突变等位基因的方法和材料。更具体地，本发明涉及BRCA1基因中的种系突变及其在诊断乳腺癌和卵巢癌易感性中的用途。本发明还涉及人乳腺癌和卵巢癌中BRCA1基因的体细胞突变及其在人乳腺癌和卵巢癌诊断和预后中的应用。另外本发明涉及其他人类癌症中BRCA1基因的体细胞突变及其在人类癌症诊断和预后中的应用。本发明还涉及在BRCA1基因中具有突变的人类癌症的治疗，包括基因治疗，蛋白质替代疗法和蛋白质模拟物。本发明还涉及用于癌症治疗的药物的筛选。最后，本发明涉及用于突变的BRCA1基因的筛选，其可用于诊断乳腺和卵巢癌的易感性。

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