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1. 发明申请

WO2020150656A1 METHODS FOR ASSESSING AND TREATING CANCER 审中-公开
公开(公告)号：WO2020150656A1
公开(公告)日：2020-07-23
申请号：PCT/US2020/014172
申请日：2020-01-17
申请人： THE JOHNS HOPKINS UNIVERSITY , THE RESEARCH FOUNDATION FOR THE STATE UNIVERSITY OF NEW YORK , BOARD OF REGENTS, THE UNIVERSITY OF TEXAS SYSTEM
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth W. , COHEN, Joshua , PAPADOPOULOS, Nickolas , LENNON, Anne Marie , TOMASETTI, Cristian , WANG, Yuxuan , NETTO, Georges Jabboure , KARCHIN, Rachel , DOUVILLE, Christopher , HANASH, Samir , SPRINGER, Simeon , GROLLMAN, Arthur , DICKMAN, Kathleen
IPC分类号： C12Q1/6886
摘要： Provided herein are methods and materials for detecting and/or treating subject (e.g., a human) having cancer. In some embodiments, methods and materials for identifying a subject as having cancer (e.g., a localized cancer) are provided in which the presence of member(s) of two or more classes of biomarkers are detected. In some embodiments, methods and materials for identifying a subject as having cancer (e.g., a localized cancer) are provided in which the presence of member(s) of at least one class of biomarkers and the presence of aneuploidy are detected. In some embodiments, methods described herein provide increased sensitivity and/or specificity in the detection of cancer in a subject (e.g. a human).

3. 发明申请

WO2019067092A1 METHODS AND MATERIALS FOR ASSESSING AND TREATING CANCER 审中-公开
公开(公告)号：WO2019067092A1
公开(公告)日：2019-04-04
申请号：PCT/US2018/045669
申请日：2018-08-07
申请人： THE JOHNS HOPKINS UNIVERSITY , BOARD OF REGENTS, THE UNIVERSITY OF TEXAS SYSTEMS , THE RESEARCH FOUNDATION FOR THE STATE UNIVERSITY OF NEW YORK
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth W. , COHEN, Joshua , PAPADOPOULOS, Nickolas , LENNON, Anne Marie , TOMASETTI, Cristian , WANG, Yuxuan , NETTO, Georges Jabboure , KARCHIN, Rachel , DOUVILLE, Chris , HANASH, Samir , SPRINGER, Simeon , GROLLMAN, Arthur , DICKMAN, Kathleen
IPC分类号： C12Q1/6886
摘要： Provided herein are methods and materials for detecting and/or treating subject (e.g. a human) having cancer. In some embodiments, methods and materials for identifying a subject as having cancer (e.g., a localized cancer) are provided in which the presence of member(s) of two or more classes of biomarkers are detected. In some embodiments, methods and materials for identifying a subject as having cancer (e.g. a localized cancer) are provided in which the presence of member(s) of at least one class of biomarkers and the presence of aneuploidy are detected. In some embodiments, methods described herein provide increased sensitivity and/or specificity in the detection of cancer in a subject (e.g. a human).

4. 发明授权

EP2417270B1 DIGITAL QUANTIFICATION OF DNA METHYLATION 有权
标题翻译： DNA甲基化的数字量化
公开(公告)号：EP2417270B1
公开(公告)日：2017-09-20
申请号：EP10762298.7
申请日：2010-04-06
申请人： The Johns Hopkins University , Case Western Reserve University
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth, W. , LI, Meng , DIAZ, Luis , PAPADOPOULOS, Nickolas , MARKOWITZ, Sanford
IPC分类号： C12Q1/68 , C12N15/11 , G01N33/52
CPC分类号： C12Q1/6816 , C12Q1/6886 , C12Q2600/154 , C12Q2565/501 , C12Q2527/125 , C12Q2523/125

5. 发明公开

EP2723896A2 MUTATIONS IN PANCREATIC NEOPLASMS 有权
标题翻译： PANKREAS-NEOPLASMEN中的突变体
公开(公告)号：EP2723896A2
公开(公告)日：2014-04-30
申请号：EP12802288.6
申请日：2012-06-22
申请人： The Johns Hopkins University
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth W. , WU, Jian , DIAZ, Luis , PAPADOPOULOS, Nickolas , MATTHAEI, Hanno , HRUBAN, Ralph , MAITRA, Anirban
IPC分类号： C12Q1/68 , C12N15/11
CPC分类号： C12Q1/6886 , C12Q2600/112 , C12Q2600/156
摘要： To help reveal the pathogenesis of these lesions, we purified the DNA from Intraductal Papillary Mucinous Neoplasm (IPMN) cyst fluids from 19 patients and searched for mutations in 169 genes commonly altered in human cancers. We identified recurrent mutations at codon 201 of GNAS. We found that GNAS mutations were present in 66% of IPMNs and that either KRAS or GNAS mutations could be identified in 96%. In eight cases, we could investigate invasive adenocarcinomas that developed in association with IPMNs containing GNAS mutations. In seven of these eight cases, the GNAS mutations present in the IPMNs were also found in the invasive lesion. GNAS mutations were not found in other types of cystic neoplasms of the pancreas or in invasive adenocarcinomas not associated with IPMNs. These data suggest that GNAS mutations can inform the diagnosis and management of patients with cystic pancreatic lesions.
摘要翻译：为了揭示这些病变的发病机制，我们从19名患者的导管内乳头状粘液性肿瘤（IPMN）囊肿液中纯化了DNA，并在人类癌症中通常改变的169种基因中进行了突变检测。我们在GNAS的201号密码子处鉴定了复发性突变。我们发现GNAS突变存在于66％的IPMNs中，KRAS或GNAS突变可以在96％中鉴定。在8例中，我们可以研究与含有GNAS突变的IPMN相关的侵袭性腺癌。在这8例中有7例中，存在于IPMNs中的GNAS突变也在侵袭性损伤中发现。在其他类型的胰腺囊性肿瘤或与IPMN无关的侵袭性腺癌中未发现GNAS突变。这些数据表明，GNAS突变可以为囊性胰腺病变患者的诊断和治疗提供依据。

6. 发明授权

EP0847450B1 MONO-ALLELIC MUTATION ANALYSIS FOR IDENTIFYING GERMLINE MUTATIONS 失效
标题翻译： MONO-等位基因突变分析及KEIMBAHMMUTATIONEN的检测
公开(公告)号：EP0847450B1
公开(公告)日：2003-11-05
申请号：EP96930551.5
申请日：1996-08-23
申请人： THE JOHNS HOPKINS UNIVERSITY
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth, W. , PAPADOPOULOS, Nickolas
IPC分类号： C12Q1/68 , C12P21/00 , G01N33/50 , G01N33/574 , G01N33/68
CPC分类号： G01N33/68 , C12Q1/6827 , G01N33/5005 , C12Q2561/107
摘要： A diagnostic strategy for detection of inherited diseases caused by germline mutations is based on somatic cell hybridization. Each allele of a human gene involved in the inherited disease is isolated in a somatic cell hybrid. The products of the isolated human allele are then observed in the absence of the other allele of the human.

7. 发明申请

WO2021163546A1 METHODS AND MATERIALS FOR ASSESSING NUCLEIC ACIDS 审中-公开
公开(公告)号：WO2021163546A1
公开(公告)日：2021-08-19
申请号：PCT/US2021/017937
申请日：2021-02-12
申请人： THE JOHNS HOPKINS UNIVERSITY , PAPADOPOULOS, Nickolas , KINZLER, Kenneth W. , VOGELSTEIN, Bert , COHEN, Joshua David
发明人： PAPADOPOULOS, Nickolas , KINZLER, Kenneth W. , VOGELSTEIN, Bert , COHEN, Joshua David
IPC分类号： C12Q1/686
摘要： Provided herein are systems, kits, compositions and methods for sequencing library preparation and sequencing workflow (e.g., for the identification of mutations). In certain embodiments, provides herein systems and methods to identically barcode both strands of templates, and PCR-based enrichment of each strand that does not require hybridization capture.

8. 发明申请

WO2019133245A1 PREVENTING CYTOKINE RELEASE SYNDROME 审中-公开
公开(公告)号：WO2019133245A1
公开(公告)日：2019-07-04
申请号：PCT/US2018/064969
申请日：2018-12-11
申请人： THE JOHNS HOPKINS UNIVERSITY
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth W. , PAPADOPOULOS, Nickolas , ZHOU, Shibin , STAEDTKE, Verena , BAI, Renyuan , RIGGINS, Gregory J.
IPC分类号： A61K31/198 , A61K39/395 , A61K38/22 , A61P19/02 , A61P37/00
摘要： This document relates to methods and materials for preventing cytokine release syndrome (CRS). For example, methods and materials for using one or more catecholamine inhibitors to prevent a mammal from developing CRS are provided.

9. 发明申请

WO2019100059A1 METHODS AND MATERIALS FOR ASSESSING AND TREATING CANCER 审中-公开
公开(公告)号：WO2019100059A1
公开(公告)日：2019-05-23
申请号：PCT/US2018/062007
申请日：2018-11-20
申请人： THE JOHNS HOPKINS UNIVERSITY
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth W. , WANG, Qing , PAPADOPOULOS, Nickolas , ZHANG, Ming
IPC分类号： G01N33/574
摘要： This document provides methods and materials for identifying biomarkers (e.g., peptide biomarkers) that can be used to identify a mammal as having a disease (e.g., cancer). This document also provides methods and materials for identifying and/or treating cancer. For example, this document provides methods and materials for using one or more peptide fragments derived from a peptidyl-prolyl cis-trans isomerase A (PPIA) polypeptide to identify a mammal as having cancer (e.g., ovarian cancer).

10. 发明申请

WO2012142213A2 SAFE SEQUENCING SYSTEM 审中-公开
标题翻译：安全排序系统
公开(公告)号：WO2012142213A2
公开(公告)日：2012-10-18
申请号：PCT/US2012/033207
申请日：2012-04-12
申请人： THE JOHNS HOPKINS UNIVERSITY , VOGELSTEIN, Bert , KINZLER, Kenneth W. , PAPADOPOULOS, Nickolas , KINDE, Isaac
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth W. , PAPADOPOULOS, Nickolas , KINDE, Isaac
IPC分类号： C12Q1/68 , C12N15/11
CPC分类号： C12Q1/6874 , C12Q1/6806 , C12Q1/6869 , C12Q1/6876 , C12Q2563/179 , C12Q2600/158 , C12Q2535/122 , C12Q2565/514
摘要： The identification of mutations that are present in a small fraction of DNA templates is essential for progress in several areas of biomedical research. Though massively parallel sequencing instruments are in principle well-suited to this task, the error rates in such instruments are generally too high to allow confident identification of rare variants. We here describe an approach that can substantially increase the sensitivity of massively parallel sequencing instruments for this purpose. One example of this approach, called "Safe-SeqS" for (Safe-Sequencing System) includes (i) assignment of a unique identifier (UID) to each template molecule; (ii) amplification of each uniquely tagged template molecule to create UID-families; and (iii) redundant sequencing of the amplification products. PCR fragments with the same UID are truly mutant ("super-mutants") if ≥95% of them contain the identical mutation. We illustrate the utility of this approach for determining the fidelity of a polymerase, the accuracy of oligonucleotides synthesized in vitro , and the prevalence of mutations in the nuclear and mitochondrial genomes of normal cells.
摘要翻译：存在于DNA模板的一小部分中的突变的鉴定对于在几个生物医学研究领域的进展是必不可少的。尽管大规模并行测序仪器原则上非常适合于此任务，但是这些仪器中的错误率通常太高，无法确定罕见的变体。我们在这里描述了一种可以显着增加大规模并行测序仪器对此目的的灵敏度的方法。这种方法的一个例子是（Safe-Sequencing System），称为“Safe-SeqS”，包括（i）将唯一标识符（UID）分配给每个模板分子; （ii）每个唯一标记的模板分子的扩增以产生UID家族; 和（iii）扩增产物的冗余测序。具有相同UID的PCR片段是真正的突变体（“超突变体”），如果其中95％含有相同的突变。我们说明了这种方法用于确定聚合酶的保真度，体外合成的寡核苷酸的准确性以及正常细胞的核和线粒体基因组中突变的流行率的效用。

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