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1. 发明授权

US08048627B2 Method and compositions for detection and enumeration of genetic variations 有权
标题翻译：用于检测和计数遗传变异的方法和组合物
公开(公告)号：US08048627B2
公开(公告)日：2011-11-01
申请号：US10562840
申请日：2004-06-09
申请人： Devin Dressman , Hai Yan , Kenneth W Kinzler , Bert Vogelstein
发明人： Devin Dressman , Hai Yan , Kenneth W Kinzler , Bert Vogelstein
IPC分类号： C12Q1/68 , C12P19/34 , C07H21/02
CPC分类号： C12Q1/6858 , C07H21/04 , C12N15/1075 , C12Q1/686 , C12Q2565/537 , C12Q2563/149 , C12Q2563/143
摘要： Many areas of biomedical research depend on the analysis of uncommon variations in individual genes or transcripts. Here we describe a method that can quantify such variation at a scale and ease heretofore unattainable. Each DNA molecule in a collection of such molecules is converted into a single particle to which thousands of copies of DNA identical in sequence to the original are bound. This population of beads then corresponds to a one-to-one representation of the starting DNA molecules. Variation within the original population of DNA molecules can then be simply assessed by counting fluorescently-labeled particles via flow cytometry. Millions of individual DNA molecules can be assessed in this fashion with standard laboratory equipment. Moreover, specific variants can be isolated by flow sorting and employed for further experimentation. This approach can be used for the identification and quantification of rare mutations as well as to study variations in gene sequences or transcripts in specific populations or tissues.
摘要翻译：生物医学研究的许多领域取决于对个别基因或转录本中不常见变异的分析。在这里，我们描述一种可以量化这种变化的方法，其规模和容易度迄今为止是无法实现的。将这样的分子的集合中的每个DNA分子转化成单个颗粒，其中与原始序列顺序相同的数千个拷贝的DNA被结合。这种珠子群对应于起始DNA分子的一对一表示。然后可以通过流式细胞术对荧光标记的颗粒进行计数，简单地评估原始DNA分子群体内的变异。可以用标准实验室设备以这种方式评估数百万个单独的DNA分子。此外，可以通过流动分选分离特定的变体并用于进一步的实验。该方法可用于鉴定和定量稀有突变，并研究特定群体或组织中基因序列或转录本的变异。

2. 发明授权

US09328343B2 Method and compositions for detection and enumeration of genetic variations 有权
标题翻译：用于检测和计数遗传变异的方法和组合物
公开(公告)号：US09328343B2
公开(公告)日：2016-05-03
申请号：US13311120
申请日：2011-12-05
申请人： Devin Dressman , Hai Yan , Kenneth W Kinzler , Bert Vogelstein
发明人： Devin Dressman , Hai Yan , Kenneth W Kinzler , Bert Vogelstein
IPC分类号： C12Q1/68 , C12N15/10 , C07H21/04
CPC分类号： C12Q1/6858 , C07H21/04 , C12N15/1075 , C12Q1/686 , C12Q2565/537 , C12Q2563/149 , C12Q2563/143
摘要： Many areas of biomedical research depend on the analysis of uncommon variations in individual genes or transcripts. Here we describe a method that can quantify such variation at a scale and ease heretofore unattainable. Each DNA molecule in a collection of such molecules is converted into a single particle to which thousands of copies of DNA identical in sequence to the original are bound. This population of beads then corresponds to a one-to-one representation of the starting DNA molecules. Variation within the original population of DNA molecules can then be simply assessed by counting fluorescently-labeled particles via flow cytometry. Millions of individual DNA molecules can be assessed in this fashion with standard laboratory equipment. Moreover, specific variants can be isolated by flow sorting and employed for further experimentation. This approach can be used for the identification and quantification of rare mutations as well as to study variations in gene sequences or transcripts in specific populations or tissues.
摘要翻译：生物医学研究的许多领域取决于对个别基因或转录本中不常见变异的分析。在这里，我们描述一种可以量化这种变化的方法，其规模和容易度迄今为止是无法实现的。将这样的分子的集合中的每个DNA分子转化成单个颗粒，其中与原始序列顺序相同的数千个拷贝的DNA被结合。这种珠子群对应于起始DNA分子的一对一表示。然后可以通过流式细胞术对荧光标记的颗粒进行计数，简单地评估原始DNA分子群体内的变异。可以用标准实验室设备以这种方式评估数百万个单独的DNA分子。此外，可以通过流动分选分离特定的变体并用于进一步的实验。该方法可用于鉴定和定量稀有突变，并研究特定群体或组织中基因序列或转录本的变异。

3. 发明申请

US20070065823A1 Method and compositions for detection and enumeration of genetic variations 有权
标题翻译：用于检测和计数遗传变异的方法和组合物
公开(公告)号：US20070065823A1
公开(公告)日：2007-03-22
申请号：US10562840
申请日：2004-06-09
申请人： Devin Dressman , Hai Yan , Kenneth Kinzler , Bert Vogelstein
发明人： Devin Dressman , Hai Yan , Kenneth Kinzler , Bert Vogelstein
IPC分类号： C12Q1/68 , C12P19/34 , C12M3/00
CPC分类号： C12Q1/6858 , C07H21/04 , C12N15/1075 , C12Q1/686 , C12Q2565/537 , C12Q2563/149 , C12Q2563/143
摘要： Many areas of biomedical research depend on the analysis of uncommon variations in individual genes or transcripts. Here we describe a method that can quantify such variation at a scale and ease heretofore unattainable. Each DNA molecule in a collection of such molecules is converted into a single particle to which thousands of copies of DNA identical in sequence to the original are bound. This population of beads then corresponds to a one-to-one representation of the starting DNA molecules. Variation within the original population of DNA molecules can then be simply assessed by counting fluorescently-labeled particles via flow cytometry. Millions of individual DNA molecules can be assessed in this fashion with standard laboratory equipment. Moreover, specific variants can be isolated by flow sorting and employed for further experimentation. This approach can be used for the identification and quantification of rare mutations as well as to study variations in gene sequences or transcripts in specific populations or tissues.
摘要翻译：生物医学研究的许多领域取决于对个别基因或转录本中不常见变异的分析。在这里，我们描述一种可以量化这种变化的方法，其规模和容易度迄今为止是无法实现的。将这样的分子的集合中的每个DNA分子转化成单个颗粒，其中与原始序列顺序相同的数千个拷贝的DNA被结合。这种珠子群对应于起始DNA分子的一对一表示。然后可以通过流式细胞术对荧光标记的颗粒进行计数，简单地评估原始DNA分子群体内的变异。可以用标准实验室设备以这种方式评估数百万个单独的DNA分子。此外，可以通过流动分选分离特定的变体并用于进一步的实验。该方法可用于鉴定和定量稀有突变，并研究特定群体或组织中基因序列或转录本的变异。

4. 发明授权

US09982306B2 Somatic mutations in ATRX in brain cancer 有权
公开(公告)号：US09982306B2
公开(公告)日：2018-05-29
申请号：US14129850
申请日：2012-06-28
申请人： Hai Yan , Darell Bigner , Bert Vogelstein , Kenneth W. Kinzler , Alan Meeker , Ralph Hruban , Nickolas Papadopoulos , Luis Diaz , Yuchen Jiao
发明人： Hai Yan , Darell Bigner , Bert Vogelstein , Kenneth W. Kinzler , Alan Meeker , Ralph Hruban , Nickolas Papadopoulos , Luis Diaz , Yuchen Jiao
IPC分类号： G01N33/68 , C12Q1/68 , G01N33/574 , C07K16/40 , C12N15/113
CPC分类号： C12Q1/6886 , C07K16/40 , C12N15/1137 , C12Q2600/118 , C12Q2600/156 , G01N33/57407
摘要： We determined the sequence of ATRX and DAXX in 447 cancers from various sites. We found mutations most commonly in pediatric glioblastoma multiformae (GBM) (11.1%), adult GBM (6.5%), oligodendrogliomas (7.7%) and medulloblastomas (1.5%); and showed that Alternative Lengthening of Telomeres (ALT), a telomerase-independent telomere maintenance mechanism found in cancers that have not activated telomerase, perfectly correlated with somatic mutations of either gene. In contrast, neuroblastomas, and adenocarcinomas of the ovary, breast, and pancreas were negative for mutations in ATRX and DAXX. Alterations in ATRX or DAXX define a specific molecular pathway that is closely associated with an alternative telomere maintenance function in human cancers.

5. 发明授权

US06399374B1 Converting diploidy to haploidy for genetic diagnosis 失效
标题翻译：将二倍体转化为单倍体用于遗传诊断
公开(公告)号：US06399374B1
公开(公告)日：2002-06-04
申请号：US09461047
申请日：1999-12-15
申请人： Bert Vogelstein , Kenneth W. Kinzler , Hai Yan , Nicholas Papadopoulos
发明人： Bert Vogelstein , Kenneth W. Kinzler , Hai Yan , Nicholas Papadopoulos
IPC分类号： C12N512
CPC分类号： C12N5/166 , C12Q1/6886 , C12Q2600/156
摘要： Detection of mutations associated with hereditary diseases is complicated by the diploid nature of human cells. Mutations present in one allele are often masked by the wild-type sequence of the other allele. Individual alleles can be isolated from every chromosome within somatic cell hybrids generated from a single fusion. Nucleic acids from the hybrids can be analyzed for mutations in an unambiguous manner. This approach was used to detect two cancer-causing mutations that had previously defied genetic diagnosis. One of the families studied, Warthin Family G, was the first kindred with a hereditary colon cancer syndrome described in the biomedical literature.
摘要翻译：与遗传性疾病相关的突变的检测由于人类细胞的二倍体性质而复杂化。存在于一个等位基因中的突变通常被其他等位基因的野生型序列掩蔽。可以从单次融合产生的体细胞杂交体内的每个染色体分离个体等位基因。来自杂种的核酸可以以明确的方式分析突变。这种方法被用于检测先前不符合遗传诊断的两种致癌突变。研究的家庭之一，Warthin Family G，是生物医学文献中描述的第一个遗传性结肠癌综合症患者。

6. 发明授权

US09873917B2 Oligodendroglioma drive genes 有权
公开(公告)号：US09873917B2
公开(公告)日：2018-01-23
申请号：US14233296
申请日：2012-07-18
申请人： Bert Vogelstein , Kenneth W. Kinzler , Chetan Bettegowda , Nishant Agrawal , Nickolas Papadopoulos , Darell Bigner , Hai Yan , Roger McLendon
发明人： Bert Vogelstein , Kenneth W. Kinzler , Chetan Bettegowda , Nishant Agrawal , Nickolas Papadopoulos , Darell Bigner , Hai Yan , Roger McLendon
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , C12Q2600/106 , C12Q2600/112 , C12Q2600/118 , C12Q2600/156 , C12Q2600/158
摘要： Oligodendrogliomas are the second most common malignant brain tumor in adults. These tumors often contain a chromosomal abnormality involving a pericentromeric fusion of chromosomes 1 and 19, resulting in losses of the entire short arm of the former and the long arm of the latter. To identify the molecular genetic basis for this alteration, we performed exomic sequencing of seven anaplastic oligodendrogliomas with chromosome 1p and 19q losses. Among other changes, we found that that CIC (homolog of the Drosophila gene capicua) on chromosome 19q was somatically mutated in six of the seven cases and that FUBP1 (far upstream element (FUSE) binding protein) on chromosome 1p was somatically mutated in two of the seven cases. Examination of 27 additional oligodendrogliomas revealed 12 and 3 more tumors with mutations of CIC and FUBP1, respectively, 58% of which were predicted to result in truncations of the encoded proteins. These results suggest a critical role for these genes in the biology and pathology of oligodendrocytes.

7. 发明申请

US20140221219A1 OLIGODENDROGLIOMA DRIVE GENES 审中-公开
标题翻译： OLIGODENDROGLIOMA驱动基因
公开(公告)号：US20140221219A1
公开(公告)日：2014-08-07
申请号：US14233296
申请日：2012-07-18
申请人： Bert Vogelstein , Kenneth W. Kinzler , Chetan Bettegowda , Nishant Agrawal , Nickolas Papadopoulos , Darell Bigner , Hai Yan , Roger Mclendon
发明人： Bert Vogelstein , Kenneth W. Kinzler , Chetan Bettegowda , Nishant Agrawal , Nickolas Papadopoulos , Darell Bigner , Hai Yan , Roger Mclendon
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , C12Q2600/106 , C12Q2600/112 , C12Q2600/118 , C12Q2600/156 , C12Q2600/158
摘要： Oligodendrogliomas are the second most common malignant brain tumor in adults. These tumors often contain a chromosomal abnormality involving a pericentromeric fusion of chromosomes 1 and 19, resulting in losses of the entire short arm of the former and the long arm of the latter. To identify the molecular genetic basis for this alteration, we performed exomic sequencing of seven anaplastic oligodendrogliomas with chromosome 1p and 19q losses. Among other changes, we found that that CIC (homolog of the Drosophila gene capicua) on chromosome 19q was somatically mutated in six of the seven cases and that FUBP1 (far upstream element (FUSE) binding protein) on chromosome 1p was somatically mutated in two of the seven cases. Examination of 27 additional oligodendrogliomas revealed 12 and 3 more tumors with mutations of CIC and FUBP1, respectively, 58% of which were predicted to result in truncations of the encoded proteins. These results suggest a critical role for these genes in the biology and pathology of oligodendrocytes.
摘要翻译：少突神经胶质瘤是成人中第二常见的恶性脑肿瘤。这些肿瘤通常包含染色体异常，涉及染色体1和染色体1的致晕体融合，导致前者的整个短臂和后者的长臂的损失。为了确定这种改变的分子遗传基础，我们对染色体1p和19q损失进行了7个分离性少突胶质细胞瘤的外切测序。在其他变化中，我们发现在七种病例中的六种中，染色体19q上的CIC（果蝇基因capicua的同系物）被体细胞突变，并且染色体1p上的FUBP1（远上游元件（FUSE）结合蛋白）在两个体内被突变的七例。另外27例少突胶质细胞瘤的检查显示有12例和3例分别具有CIC和FUBP1突变的肿瘤，其中58％预计会导致编码蛋白的截短。这些结果表明这些基因在少突胶质细胞的生物学和病理学中的关键作用。

8. 发明授权

US08685660B2 Genetic alterations in isocitrate dehydrogenase and other genes in malignant glioma 有权
标题翻译：异柠檬酸脱氢酶和恶性胶质瘤中其他基因的遗传改变
公开(公告)号：US08685660B2
公开(公告)日：2014-04-01
申请号：US13060191
申请日：2009-09-03
申请人： Bert Vogelstein , Kenneth W. Kinzler , D. Williams Parsons , Xiaosong Zhang , Jimmy Cheng-Ho Lin , Rebecca J. Leary , Philipp Angenendt , Nickolas Papadopoulos , Victor Velculescu , Giovanni Parmigiani , Rachel Karchin , Sian Jones , Hai Yan , Darell Bigner , Chien-Tsun Kuan , Gregory J. Riggins
发明人： Bert Vogelstein , Kenneth W. Kinzler , D. Williams Parsons , Xiaosong Zhang , Jimmy Cheng-Ho Lin , Rebecca J. Leary , Philipp Angenendt , Nickolas Papadopoulos , Victor Velculescu , Giovanni Parmigiani , Rachel Karchin , Sian Jones , Hai Yan , Darell Bigner , Chien-Tsun Kuan , Gregory J. Riggins
IPC分类号： G01N33/574
CPC分类号： C12Q1/6886 , C12Q2600/112 , C12Q2600/118 , C12Q2600/136 , C12Q2600/156
摘要： We found mutations of the R132 residue of isocitrate dehydrogenase 1 (IDH1) in the majority of grade II and III astrocytomas and oligodendrogliomas as well as in glioblastomas that develop from these lower grade lesions. Those tumors without mutations in IDH1 often had mutations at the analogous R172 residue of the closely related IDH2 gene. These findings have important implications for the pathogenesis and diagnosis of malignant gliomas.
摘要翻译：我们发现大多数II级和III级星形细胞瘤和少突胶质细胞瘤中异柠檬酸脱氢酶1（IDH1）的R132残基突变以及从这些较低级别病变发展的成胶质细胞瘤。那些没有IDH1突变的肿瘤在紧密相关的IDH2基因的类似R172残基中经常具有突变。这些发现对恶性胶质瘤的发病机制和诊断具有重要意义。

9. 发明授权

US07045352B2 Converting diploidy to haploidy for genetic diagnosis 失效
公开(公告)号：US07045352B2
公开(公告)日：2006-05-16
申请号：US10210066
申请日：2002-08-02
申请人： Bert Vogelstein , Kenneth W. Kinzler , Nickolas Papadopoulos , Hai Yan
发明人： Bert Vogelstein , Kenneth W. Kinzler , Nickolas Papadopoulos , Hai Yan
IPC分类号： C12N5/12 , C12Q1/00 , C12N15/06 , C12N15/87
CPC分类号： C12N5/166 , C12Q1/6886 , C12Q2600/156
摘要： Detection of mutations associated with hereditary diseases is complicated by the diploid nature of mammalian cells. Mutations present in one allele are often masked by the wild-type sequence of the other allele. Individual alleles can be isolated from every chromosome within somatic cell hybrids generated from a single fusion. Nucleic acids from the hybrids can be analyzed for mutations in an unambiguous manner. This approach was used to detect two cancer-causing mutations that had previously defied genetic diagnosis. One of the families studied, Warthin Family G, was the first kindred with a hereditary colon cancer syndrome described in the biomedical literature.

10. 发明申请

US20140227271A1 SOMATIC MUTATIONS IN ATRX IN BRAIN CANCER 有权
标题翻译：脑癌中ATRX中的SOMATIC MUTATIONS
公开(公告)号：US20140227271A1
公开(公告)日：2014-08-14
申请号：US14129850
申请日：2012-06-28
申请人： Hai Yan , Darell Bigner , Bert Vogelstein , Kenneth W. Kinzler , Alan Meeker , Ralph Hruban , Nickolas Papadopoulos , Luis Diaz , Yuchen Jiao
发明人： Hai Yan , Darell Bigner , Bert Vogelstein , Kenneth W. Kinzler , Alan Meeker , Ralph Hruban , Nickolas Papadopoulos , Luis Diaz , Yuchen Jiao
IPC分类号： C12Q1/68 , C07K16/40 , C12N15/113 , G01N33/574
CPC分类号： C12Q1/6886 , C07K16/40 , C12N15/1137 , C12Q2600/118 , C12Q2600/156 , G01N33/57407
摘要： We determined the sequence of ATRX and DAXX in 447 cancers from various sites. We found mutations most commonly in pediatric glioblastoma multiformae (GBM) (11.1%), adult GBM (6.5%), oligodendrogliomas (7.7%) and medulloblastomas (1.5%); and showed that Alternative Lengthening of Telomeres (ALT), a telomerase-independent telomere maintenance mechanism found in cancers that have not activated telomerase, perfectly correlated with somatic mutations of either gene. In contrast, neuroblastomas, and adenocarcinomas of the ovary, breast, and pancreas were negative for mutations in ATRX and DAXX. Alterations in ATRX or DAXX define a specific molecular pathway that is closely associated with an alternative telomere maintenance function in human cancers.
摘要翻译：我们确定了来自各个位点的447例癌症中ATRX和DAXX的序列。我们发现多形性小儿多形性成胶质细胞瘤（GBM）（11.1％），成人GBM（6.5％），少突胶质细胞瘤（7.7％）和成神经管细胞瘤（1.5％）中最常见的突变; 并且表明，在未激活端粒酶的癌症中发现端粒酶不依赖端粒维持机制的替代延长端粒（ALT）与任一基因的体细胞突变完全相关。相比之下，成骨细胞瘤和卵巢，乳腺和胰腺腺癌对于ATRX和DAXX中的突变是阴性的。 ATRX或DAXX中的改变定义了与人类癌症中替代端粒维持功能密切相关的特定分子途径。

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