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1. 发明授权

US6100032A Human Smad3 and Smad4 are sequence-specific transcription activators 失效
标题翻译：人Smad3和Smad4是序列特异性转录激活因子
公开(公告)号：US6100032A
公开(公告)日：2000-08-08
申请号：US41675
申请日：1998-03-13
申请人： Scott Eliot Kern , Leigh Zawel , Jia Le Dai , Bert Vogelstein , Kenneth W. Kinzler
发明人： Scott Eliot Kern , Leigh Zawel , Jia Le Dai , Bert Vogelstein , Kenneth W. Kinzler
IPC分类号： C07K14/47 , C12N15/12 , C12Q1/68
CPC分类号： C07K14/4702 , C12Q1/6897
摘要： Two human Smad proteins (Smad3 and Smad4) specifically recognize an identical 8 bp palindromic sequence (GTCTAGAC) (SEQ ID NO: 1). Tandem repeats of this palindrome confer striking TGF-.beta. responsiveness to a minimal promoter. This responsiveness is abrogated by targeted deletion of the cellular Smad4 gene. DNA molecules comprising the 8 bp palindromic sequence can be used in assays for drug screening and diagnostically.
摘要翻译：两个人Smad蛋白（Smad3和Smad4）特异性识别相同的8bp回文序列（GTCTAGAC）（SEQ ID NO：1）。这种回文的串联重复赋予了对最小启动子的明显的TGF-β响应性。这种反应性被细胞Smad4基因的靶向删除所消除。包含8bp回文序列的DNA分子可用于药物筛选和诊断测定。

2. 发明授权

US06225441B1 Human fast-1 protein 失效
标题翻译：人快1蛋白
公开(公告)号：US06225441B1
公开(公告)日：2001-05-01
申请号：US09521109
申请日：2000-03-07
申请人： Shibin Zhou , Leigh Zawel , Bert Vogelstein , Kenneth W. Kinzler
发明人： Shibin Zhou , Leigh Zawel , Bert Vogelstein , Kenneth W. Kinzler
IPC分类号： C07K700
CPC分类号： G01N33/6872 , C07K14/4705 , G01N2333/495 , G01N2500/00
摘要： hFAST-1 is a human forkhead activin signal transducer gene. The hFAST-1 protein has the ability to bind to human Smad2 and activate an activin response element (ARE). The hFAST-1-dependent activation of ARE is dependent on endogenous Smad4 and stimulation of the TGF-&bgr; receptor. The hFAST-1 protein binds to a novel DNA motif, TGT(G/T)(T/G)ATT, which is present within the ARE. This motif is important for the activation of genes responsive to ligands of the TGF-&bgr; family. The invention includes tools for investigating the TGF-&bgr; signaling pathway and screening for compounds which modulate the action of TGF-&bgr;.
摘要翻译： hFAST-1是人类forkhead激活信号转导基因。 hFAST-1蛋白具有与人Smad2结合并激活激活素反应元件（ARE）的能力。 ARE的hFAST-1依赖性激活依赖于内源Smad4和TGF-β受体的刺激。 hFAST-1蛋白结合ARE中存在的新型DNA基序TGT（G / T）（T / G）ATT。该基序对于激活对TGF-β家族配体有响应的基因是重要的。本发明包括用于研究TGF-β信号传导途径和筛选调节TGF-β的作用的化合物的工具。

3. 发明授权

US6110738A Human fast-1 gene 失效
标题翻译：人快1基因
公开(公告)号：US6110738A
公开(公告)日：2000-08-29
申请号：US113309
申请日：1998-07-10
申请人： Shibin Zhou , Leigh Zawel , Bert Vogelstein , Kenneth W. Kinzler
发明人： Shibin Zhou , Leigh Zawel , Bert Vogelstein , Kenneth W. Kinzler
IPC分类号： C07K14/47 , C12N15/12 , C12N5/10 , C12N1/00 , C12N15/63
CPC分类号： G01N33/6872 , C07K14/4705 , G01N2333/495 , G01N2500/00
摘要： hFAST-1 is a human forkhead activin signal transducer gene. The hFAST-1 protein has the ability to bind to human Smad2 and activate an activin response element (ARE). The hFAST-1-dependent activation of ARE is dependent on endogenous Smad4 and stimulation of the TGF-.beta. receptor. The hFAST-1 protein binds to a novel DNA motif, TGT(G/T)(T/G)ATT, which is present within the ARE. This motif is important for the activation of genes responsive to ligands of the TGF-.beta. family. The invention includes tools for investigating the TGF-.beta. signaling pathway and screening for compounds which modulate the action of TGF-.beta..
摘要翻译： hFAST-1是人类forkhead激活信号转导基因。 hFAST-1蛋白具有与人Smad2结合并激活激活素反应元件（ARE）的能力。 ARE的hFAST-1依赖性激活依赖于内源Smad4和TGF-β受体的刺激。 hFAST-1蛋白结合ARE中存在的新型DNA基序TGT（G / T）（T / G）ATT。这种基序对于激活对TGF-β家族配体有反应的基因很重要。本发明包括用于研究TGF-β信号通路和筛选调节TGF-β的作用的化合物的工具。

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

US09476095B2 Safe sequencing system 有权
标题翻译：安全排序系统
公开(公告)号：US09476095B2
公开(公告)日：2016-10-25
申请号：US14111715
申请日：2012-04-12
申请人： Bert Vogelstein , Kenneth W. Kinzler , Nickolas Papadopoulos , Isaac Kinde
发明人： Bert Vogelstein , Kenneth W. Kinzler , Nickolas Papadopoulos , Isaac Kinde
IPC分类号： C12Q1/68 , C07H21/02
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片段是真实的突变体（“超突变体”），如果其≥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。

6. 发明授权

US08709723B2 Integrated analyses of breast and colorectal cancers 有权
标题翻译：乳腺癌和结肠直肠癌的综合分析
公开(公告)号：US08709723B2
公开(公告)日：2014-04-29
申请号：US13461268
申请日：2012-05-01
申请人： Bert Vogelstein , Kenneth W. Kinzler , Rebecca J. Leary , Victor E. Velculescu
发明人： Bert Vogelstein , Kenneth W. Kinzler , Rebecca J. Leary , Victor E. Velculescu
IPC分类号： C12Q1/66 , C12P19/34 , C07H21/02
CPC分类号： C12Q1/6886 , C12Q2600/156
摘要： Genome-wide analysis of copy number changes in breast and colorectal tumors used approaches that can reliably detect homozygous deletions and amplifications. The number of genes altered by major copy number changes—deletion of all copies or amplification of at least twelve copies per cell—averaged thirteen per tumor. These data were integrated with previous mutation analysis of the Reference Sequence genes in these same tumor types to identify genes and cellular pathways affected by both copy number changes and point alterations. Pathways enriched for genetic alterations include those controlling cell adhesion, intracellular signaling, DNA topological change, and cell cycle control. These analysis provide an integrated view of copy number and sequencing alterations on a genome-wide scale and identify genes and pathways that are useful for cancer diagnosis and therapy.
摘要翻译：使用可以可靠地检测纯合缺失和扩增的方法对乳腺和结肠直肠肿瘤的拷贝数变化进行全基因组分析。通过主要拷贝数变化改变的基因数量 - 全部拷贝的缺失或每个细胞至少12个拷贝的扩增，平均每个肿瘤13个。这些数据与以前相同肿瘤类型的参考序列基因的突变分析结合起来，以鉴定受拷贝数变化和点变化影响的基因和细胞途径。富含遗传改变的途径包括控制细胞粘附，细胞内信号转导，DNA拓扑变化和细胞周期控制的途径。这些分析提供了在全基因组范围内的拷贝数和测序改变的综合视图，并确定了可用于癌症诊断和治疗的基因和途径。

7. 发明授权

US08394598B2 Tyrosine kinome 有权
标题翻译：酪氨酸激酶
公开(公告)号：US08394598B2
公开(公告)日：2013-03-12
申请号：US12705760
申请日：2010-02-15
申请人： Alberto Bardelli , Will Parsons , Victor Velculescu , Kenneth W. Kinzler , Bert Vogelstein
发明人： Alberto Bardelli , Will Parsons , Victor Velculescu , Kenneth W. Kinzler , Bert Vogelstein
IPC分类号： C12Q1/68 , G01N33/574
CPC分类号： C12Q1/6886 , A61K31/506 , C12N9/1205 , C12Q1/025 , C12Q1/485 , C12Q1/6809 , C12Q1/6827 , C12Q2600/136 , C12Q2600/156 , G01N33/574
摘要： Protein kinases are important signaling molecules involved in tumorigenesis. Mutational analysis of the human tyrosine kinase gene family (98 genes) identified somatic alterations in -20% of colorectal cancers, with the majority of mutations occurring in NTRK3, FES, GUCY2F and a previously uncharacterized tyrosine kinase gene called MCCK/MLK4. Most alterations were in conserved residues affecting key regions of the kinase domain. These data represent a paradigm for the unbiased analysis of signal transducing genes in cancer and provide useful targets for therapeutic intervention.
摘要翻译：蛋白激酶是参与肿瘤发生的重要信号分子。人类酪氨酸激酶基因家族（98个基因）的突变分析鉴定了-20％的结肠直肠癌的体细胞变化，大部分突变发生在NTRK3，FES，GUCY2F和以前称为MCCK / MLK4的未表征的酪氨酸激酶基因。大多数改变是保守的残基影响激酶结构域的关键区域。这些数据代表了癌症中信号转导基因的无偏见分析的范例，并为治疗干预提供了有用的目标。

8. 发明申请

US20120115735A1 Pathways Underlying Pancreatic Tumorigenesis and an Hereditary Pancreatic Cancer Gene 审中-公开
标题翻译：通路胰腺肿瘤发生和遗传性胰腺癌基因
公开(公告)号：US20120115735A1
公开(公告)日：2012-05-10
申请号：US13060453
申请日：2009-09-03
申请人： Bert Vogelstein , Kenneth W. Kinzler , D. Williams Parsons , Sian Jones , Xiaosong Zhang , Jimmy Cheng-Ho Lin , Rebecca J. Leary , Philipp Angenendt , Nickolas Papadopoulos , Victor Velculescu , Giovanni Parmigiani , Rachel Karchin , Scott Kern , Ralph Hruban , James R. Eshleman , Michael Goggins , Alison Klein
发明人： Bert Vogelstein , Kenneth W. Kinzler , D. Williams Parsons , Sian Jones , Xiaosong Zhang , Jimmy Cheng-Ho Lin , Rebecca J. Leary , Philipp Angenendt , Nickolas Papadopoulos , Victor Velculescu , Giovanni Parmigiani , Rachel Karchin , Scott Kern , Ralph Hruban , James R. Eshleman , Michael Goggins , Alison Klein
IPC分类号： C12Q1/68 , C40B20/00 , C07H21/04
CPC分类号： G01N33/57438 , C12Q1/6886 , C12Q2600/156 , G01N2800/50
摘要： There are currently few therapeutic options for patients with pancreatic cancers and new insights into the pathogenesis of this lethal disease are urgently needed. To this end, we performed a comprehensive analysis of the genes altered in 24 pancreatic tumors. First, we determined the sequences of 23,781 transcripts, representing 20,583 protein-encoding genes, in DNA from these tumors. Second, we searched for homozygous deletions and amplifications using microarrays querying ˜one million single nucleotide polymorphisms in each sample. Third, we analyzed the transcriptomes of the same samples using SAGE and next-generation sequencing-by-synthesis technologies. We found that pancreatic cancers contain an average of 63 genetic alterations, of which 49 are point mutations, 8 are homozygous deletions, and 6 are amplifications. Further analyses revealed a core set of 12 regulatory processes or pathways that were each genetically altered in 70% to 100% of the samples. The data suggest that dysregulation of this core set of pathways is responsible for the major features of pancreatic tumorigenesis.
摘要翻译：目前对胰腺癌患者几乎没有治疗选择，迫切需要对这种致死性疾病的发病机理的新见解。为此，我们对24个胰腺肿瘤中改变的基因进行了综合分析。首先，我们从这些肿瘤的DNA中确定了23,781个转录本，代表20,583个蛋白质编码基因的序列。第二，我们使用微阵列查询每个样本中的百万个单核苷酸多态性的纯合缺失和扩增。第三，我们使用SAGE和下一代按序合成技术分析了相同样品的转录组。我们发现胰腺癌平均存在63个遗传改变，其中49个是点突变，8个是纯合缺失，6个是扩增。进一步的分析揭示了一组核心的12个调节过程或途径，在70％至100％的样品中进行了遗传改变。数据表明，这种核心途径的失调导致了胰腺肿瘤发生的主要特征。

9. 发明申请

US20120034318A1 DIAGNOSTIC METHOD USING PALB2 有权
标题翻译：诊断方法使用PALB2
公开(公告)号：US20120034318A1
公开(公告)日：2012-02-09
申请号：US13254610
申请日：2010-03-05
申请人： Bert Vogelstein , Kenneth W. Kinzler , D. Williams Parsons , Sian Jones , Scott Kern , Ralph Hruban , James R. Eshleman , Michael Goggins , Alison Klein , Manuel Hidalgo , Victor E. Velculescu
发明人： Bert Vogelstein , Kenneth W. Kinzler , D. Williams Parsons , Sian Jones , Scott Kern , Ralph Hruban , James R. Eshleman , Michael Goggins , Alison Klein , Manuel Hidalgo , Victor E. Velculescu
IPC分类号： A61K33/24 , A61P35/00 , C40B20/08 , G01N33/577 , G01N33/566 , C12Q1/68
CPC分类号： C12Q1/6886 , A61K31/407 , C12Q2600/106 , C12Q2600/156 , C12Q2600/158 , G01N33/57438 , G01N2333/47
摘要： The present invention provides a method for detecting mutations in the PALB2 gene in pancreatic cancer patients and in individuals having a family history of pancreatic cancer. Methods are also provided for diagnosing a predisposition to pancreatic cancer, for predicting a patient's response to pancreatic cancer therapies, and for treating pancreatic cancer, based on presence of a PALB2 mutation or abberant PALB2 gene expression in a patient.
摘要翻译：本发明提供了一种检测胰腺癌患者和具有胰腺癌家族史的个体中PALB2基因突变的方法。还提供了用于诊断患有胰腺癌的倾向，用于预测患者对胰腺癌治疗的反应以及用于治疗患者胰腺癌的方法，其基于在患者体内PALB2突变或异常PALB2基因表达的存在。

10. 发明授权

US08026053B2 Mutations of the PIK3CA gene in human cancers 有权
标题翻译：人类癌症中PIK3CA基因的突变
公开(公告)号：US08026053B2
公开(公告)日：2011-09-27
申请号：US10591347
申请日：2005-02-18
申请人： Yardena Samuels , Victor Velculescu , Kenneth W. Kinzler , Bert Vogelstein
发明人： Yardena Samuels , Victor Velculescu , Kenneth W. Kinzler , Bert Vogelstein
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , C12Q2600/156
摘要： Phosphatidylinositol 3-kinases (PI3Ks) are known to be important regulators of signaling pathways. To determine whether PI3Ks are genetically altered in cancers, we analyzed the sequences of the P13K gene family and discovered that one family member, PIK3CA, is frequently mutated in cancers of the colon and other organs. The majority of mutations clustered near two positions within the P13K helical or kinase domains. PIK3CA represents one of the most highly mutated oncogenes yet identified in human cancers and is useful as a diagnostic and therapeutic target.
摘要翻译：已知磷脂酰肌醇3-激酶（PI3K）是信号通路的重要调控因子。为了确定PI3K在癌症中的遗传改变，我们分析了P13K基因家族的序列，发现一个家族成员PIK3CA在结肠癌和其他器官的癌症中经常发生突变。大多数突变聚集在P13K螺旋或激酶结构域内的两个位置附近。 PIK3CA代表人类癌症中尚未鉴定的最高突变型癌基因之一，可用作诊断和治疗靶点。

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