-
公开(公告)号：US20100204051A1
公开(公告)日：2010-08-12
申请号：US12389324
申请日：2009-02-19
申请人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
发明人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
CPC分类号： C07K14/47 , A61K38/00 , A61K48/00 , C07H21/04 , C07K14/70539 , C12Q1/6883
摘要： The invention relates generally to the gene, and mutations thereto, that are responsible for the disease hereditary hemochromatosis (HH). More particularly, the invention relates to the identification, isolation, and cloning of the DNA sequence corresponding to the normal and mutant HH genes, as well as the characterization of their transcripts and gene products. The invention also related to methods and the like for screening for HH homozygotes and further relates to HH diagnosis, prenatal screening and diagnosis, and therapies of HH disease, including gene therapeutics, protein and antibody based therapeutics, and small molecule therapeutics.
摘要翻译： 本发明一般涉及导致疾病遗传性血色素沉着症（HH）的基因及其突变。 更具体地，本发明涉及对应于正常和突变HH基因的DNA序列的鉴定，分离和克隆，以及它们的转录物和基因产物的表征。 本发明还涉及用于筛选HH纯合子的方法等，还涉及HH诊断，产前筛查和诊断以及HH疾病的治疗，包括基因治疗剂，基于蛋白质和基于抗体的治疗剂和小分子治疗剂。
-
2.发明授权Method for determining the presence or absence of a hereditary hemochromatosis gene mutation 有权确定遗传性血色素沉着病基因突变存在或不存在的方法公开(公告)号：US06228594B1
公开(公告)日：2001-05-08
申请号：US09503444
申请日：2000-02-14
申请人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
发明人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
IPC分类号： C12Q168
CPC分类号： C07H21/04 , A61K38/00 , A61K48/00 , C07K14/47 , C07K14/70539 , C12Q1/6883
摘要： The invention relates generally to the gene, and mutations thereto, that are responsible for the disease hereditary hemochromatosis (HH). More particularly, the invention relates to the identification, isolation, and cloning of the DNA sequence corresponding to the normal and mutant HH genes, as well as the characterization of their transcripts and gene products. The invention also relates to methods and the like for screening for HH homozygotes and further relates to HH diagnosis, prenatal screening and diagnosis, and therapies of HH disease, including gene therapeutics, protein and antibody based therapeutics, and small molecule therapeutics.
摘要翻译： 本发明一般涉及导致疾病遗传性血色素沉着症（HH）的基因及其突变。 更具体地，本发明涉及对应于正常和突变HH基因的DNA序列的鉴定，分离和克隆，以及它们的转录物和基因产物的表征。 本发明还涉及用于筛选HH纯合子的方法等，还涉及HH诊断，产前筛查和诊断以及HH疾病的治疗，包括基因治疗剂，基于蛋白质和基于抗体的治疗剂以及小分子治疗剂。
-
公开(公告)号：US20110269122A1
公开(公告)日：2011-11-03
申请号：US13178445
申请日：2011-07-07
申请人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
发明人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
IPC分类号： C12Q1/68
CPC分类号： C07K14/47 , A61K38/00 , A61K48/00 , C07H21/04 , C07K14/70539 , C12Q1/6883
摘要： The invention relates generally to the gene, and mutations thereto, that are responsible for the disease hereditary hemochromatosis (HH). More particularly, the invention relates to the identification, isolation, and cloning of the DNA sequence corresponding to the normal and mutant HH genes, as well as the characterization of their transcripts and gene products. The invention also related to methods and the like for screening for HH homozygotes and further relates to HH diagnosis, prenatal screening and diagnosis, and therapies of HH disease, including gene therapeutics, protein and antibody based therapeutics, and small molecule therapeutics.
摘要翻译： 本发明一般涉及导致疾病遗传性血色素沉着症（HH）的基因及其突变。 更具体地，本发明涉及对应于正常和突变HH基因的DNA序列的鉴定，分离和克隆，以及它们的转录物和基因产物的表征。 本发明还涉及用于筛选HH纯合子的方法等，还涉及HH诊断，产前筛查和诊断以及HH疾病的治疗，包括基因治疗剂，基于蛋白质和基于抗体的治疗剂和小分子治疗剂。
-
公开(公告)号：US07067255B2
公开(公告)日：2006-06-27
申请号：US10138888
申请日：2002-05-02
申请人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
发明人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
CPC分类号： C07K14/47 , A61K38/00 , A61K48/00 , C07H21/04 , C07K14/70539 , C12Q1/6883
摘要： The invention relates generally to the gene, and mutations thereto, that are responsible for the disease hereditary hemochromatosis (HH). More particularly, the invention relates to the identification, isolation, and cloning of the DNA sequence corresponding to the normal and mutant HH genes, as well as the characterization of their transcripts and gene products. The invention also related to methods and the like for screening for HH homozygotes and further relates to HH diagnosis, prenatal screening and diagnosis, and therapies of HH disease, including gene therapeutics, protein and antibody based therapeutics, and small molecule therapeutics.
-
公开(公告)号：US5712098A
公开(公告)日：1998-01-27
申请号：US632673
申请日：1996-04-16
申请人： Zenta Tsuchihashi , Andreas Gnirke , Winston J. Thomas , Dennis T. Drayna , David Ruddy , Roger K. Wolff , John N. Feder
发明人： Zenta Tsuchihashi , Andreas Gnirke , Winston J. Thomas , Dennis T. Drayna , David Ruddy , Roger K. Wolff , John N. Feder
摘要： A single base-pair polymorphism involving a mutation from Guanine (G), in individuals unaffected by the hereditary hemochromatosis (HH) gene defect, to Adeninc (A), in individuals affected by the HH gene defect is disclosed. The presence or absence of the polymorphic allele is highly predictive of whether an individual is at risk from HH: the polymorphism is present in 82% of affected individuals and only 4% of a random population screen. Methods of diagnosis, markers, and primers are disclosed and claimed in accordance with the present invention.
摘要翻译： 公开了在受H基因缺陷影响的个体中涉及到不属于遗传性血色素沉着（HH）基因缺陷的个体中鸟嘌呤（G））的突变到Adeninc（A）的单个碱基对多态性。 多形性等位基因的存在或不存在是高度预测个体是否处于HH风险中：多态性存在于受影响个体的82％中，只有4％存在于随机群体筛选中。 根据本发明公开和要求保护的诊断方法，标记物和引物。
-
公开(公告)号：US08257927B2
公开(公告)日：2012-09-04
申请号：US13178445
申请日：2011-07-07
申请人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
发明人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
CPC分类号： C07K14/47 , A61K38/00 , A61K48/00 , C07H21/04 , C07K14/70539 , C12Q1/6883
摘要： The invention relates generally to the gene, and mutations thereto, that are responsible for the disease hereditary hemochromatosis (HH). More particularly, the invention relates to the identification, isolation, and cloning of the DNA sequence corresponding to the normal and mutant HH genes, as well as the characterization of their transcripts and gene products. The invention also related to methods and the like for screening for HH homozygotes and further relates to HH diagnosis, prenatal screening and diagnosis, and therapies of HH disease, including gene therapeutics, protein and antibody based therapeutics, and small molecule therapeutics.
摘要翻译： 本发明一般涉及导致疾病遗传性血色素沉着症（HH）的基因及其突变。 更具体地，本发明涉及对应于正常和突变HH基因的DNA序列的鉴定，分离和克隆，以及它们的转录物和基因产物的表征。 本发明还涉及用于筛选HH纯合子的方法等，还涉及HH诊断，产前筛查和诊断以及HH疾病的治疗，包括基因治疗剂，基于蛋白质和基于抗体的治疗剂和小分子治疗剂。
-
7.发明授权公开(公告)号：US07078513B1
公开(公告)日：2006-07-18
申请号：US09497957
申请日：2000-02-04
申请人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
发明人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
CPC分类号： C07K14/47 , A61K38/00 , A61K48/00 , C07H21/04 , C07K14/70539 , C12Q1/6883
摘要： The invention relates generally to the gene, and mutations thereto, that are responsible for the disease hereditary hemochromatosis (HH). More particularly, the invention relates to the identification, isolation, and cloning of the DNA sequence corresponding to the normal and mutant HH genes, as well as the characterization of their transcripts and gene products. The invention also related to methods and the like for screening for HH homozygotes and further relates to HH diagnosis, prenatal screening and diagnosis, and therapies of HH disease, including gene therapeutics, protein and antibody based therapeutics, and small molecule therapeutics.
摘要翻译： 本发明一般涉及导致疾病遗传性血色素沉着症（HH）的基因及其突变。 更具体地，本发明涉及对应于正常和突变HH基因的DNA序列的鉴定，分离和克隆，以及它们的转录物和基因产物的表征。 本发明还涉及用于筛选HH纯合子的方法等，还涉及HH诊断，产前筛查和诊断以及HH疾病的治疗，包括基因治疗剂，基于蛋白质和基于抗体的治疗剂和小分子治疗剂。
-
公开(公告)号：US6025130A
公开(公告)日：2000-02-15
申请号：US652265
申请日：1996-05-23
申请人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
发明人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
IPC分类号： A61K38/00 , A61K38/17 , A61K39/00 , A61K39/395 , A61K48/00 , C07H21/04 , C07K14/47 , C07K14/705 , C07K14/74 , C07K16/28 , C12N15/10 , C12N15/85 , C12P19/34 , C12Q1/68 , C12N15/00
CPC分类号： C07H21/04 , C07K14/47 , C07K14/70539 , A61K38/00 , A61K48/00 , C12Q1/6883
摘要： The invention relates generally to the gene, and mutations thereto, that are responsible for the disease hereditary hemochromatosis (HH). More particularly, the invention relates to the identification, isolation, and cloning of the DNA sequence corresponding to the normal and mutant HH genes, as well as the characterization of their transcripts and gene products. The invention also relates to methods and the like for screening for HH homozygotes and further relates to HH diagnosis, prenatal screening and diagnosis, and therapies of HH disease, including gene therapeutics, protein and antibody based therapeutics, and small molecule therapeutics.
摘要翻译： 本发明一般涉及导致疾病遗传性血色素沉着症（HH）的基因及其突变。 更具体地，本发明涉及对应于正常和突变HH基因的DNA序列的鉴定，分离和克隆，以及它们的转录物和基因产物的表征。 本发明还涉及用于筛选HH纯合子的方法等，还涉及HH诊断，产前筛查和诊断以及HH疾病的治疗，包括基因治疗剂，基于蛋白质和基于抗体的治疗剂以及小分子治疗剂。
-
9.发明授权Determining genotype of a polymorphic site in the hereditary hemochromatosis gene 有权确定遗传性血色素沉着症基因多态位点的基因型公开(公告)号：US07998680B2
公开(公告)日：2011-08-16
申请号：US12389324
申请日：2009-02-19
申请人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
发明人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
CPC分类号： C07K14/47 , A61K38/00 , A61K48/00 , C07H21/04 , C07K14/70539 , C12Q1/6883
摘要： The invention relates generally to the gene, and mutations thereto, that are responsible for the disease hereditary hemochromatosis (HH). More particularly, the invention relates to the identification, isolation, and cloning of the DNA sequence corresponding to the normal and mutant HH genes, as well as the characterization of their transcripts and gene products. The invention also related to methods and the like for screening for HH homozygotes and further relates to HH diagnosis, prenatal screening and diagnosis, and therapies of HH disease, including gene therapeutics, protein and antibody based therapeutics, and small molecule therapeutics.
摘要翻译： 本发明一般涉及导致疾病遗传性血色素沉着症（HH）的基因及其突变。 更具体地，本发明涉及对应于正常和突变HH基因的DNA序列的鉴定，分离和克隆，以及它们的转录物和基因产物的表征。 本发明还涉及用于筛选HH纯合子的方法等，还涉及HH诊断，产前筛查和诊断以及HH疾病的治疗，包括基因治疗剂，基于蛋白质和基于抗体的治疗剂和小分子治疗剂。
-
公开(公告)号：US07579169B2
公开(公告)日：2009-08-25
申请号：US11327689
申请日：2006-01-05
申请人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
发明人： Winston J. Thomas , Dennis T. Drayna , John N. Feder , Andreas Gnirke , David Ruddy , Zenta Tsuchihashi , Roger K. Wolff
CPC分类号： C07K14/47 , A61K38/00 , A61K48/00 , C07H21/04 , C07K14/70539 , C12Q1/6883
摘要： The invention relates generally to the gene, and mutations thereto, that are responsible for the disease hereditary hemochromatosis (HH). More particularly, the invention relates to the identification, isolation, and cloning of the DNA sequence corresponding to the normal and mutant HH genes, as well as the characterization of their transcripts and gene products. The invention also related to methods and the like for screening for HH homozygotes and further relates to HH diagnosis, prenatal screening and diagnosis, and therapies of HH disease, including gene therapeutics, protein and antibody based therapeutics, and small molecule therapeutics.
摘要翻译： 本发明一般涉及导致疾病遗传性血色素沉着症（HH）的基因及其突变。 更具体地，本发明涉及对应于正常和突变HH基因的DNA序列的鉴定，分离和克隆，以及它们的转录物和基因产物的表征。 本发明还涉及用于筛选HH纯合子的方法等，还涉及HH诊断，产前筛查和诊断以及HH疾病的治疗，包括基因治疗剂，基于蛋白质和基于抗体的治疗剂和小分子治疗剂。
-
-
-
-
-
-
-
-
-
搜索结果
19 条记录 (耗时 0.056 秒)
