公开(公告)号：WO2011102998A2

公开(公告)日：2011-08-25

申请号：PCT/US2011024132

申请日：2011-02-09

Applicant: HELICOS BIOSCIENCES CORP ,  LAPIDUS STANLEY N ,  THOMPSON JOHN F ,  LIPSON DORON ,  MILOS PATRICE M ,  EFCAVITCH J WILLIAM ,  LETOVSKY STANLEY

Inventor： LAPIDUS STANLEY N ,  THOMPSON JOHN F ,  LIPSON DORON ,  MILOS PATRICE M ,  EFCAVITCH J WILLIAM ,  LETOVSKY STANLEY

IPC: C12Q1/68

CPC classification number: C12Q1/6869 ,  C12Q1/6809 ,  C12Q1/6883 ,  C12Q2600/156 ,  G06F19/18 ,  C12Q2535/122 ,  C12Q2537/16 ,  C12Q2537/165 ,  C12Q2563/159

Abstract: The invention generally relates to methods for detecting fetal nucleic acids and methods for diagnosing fetal abnormalities. In certain embodiments, the invention provides methods for determining whether fetal nucleic acid is present in a maternal sample including obtaining a maternal sample suspected to include fetal nucleic acids, and performing a sequencing reaction on the sample to determine presence of at least a portion of a Y chromosome in the sample, thereby determining that fetal nucleic acid is present in the sample. In other embodiments, the invention provides methods for quantitative or qualitative analysis to detect fetal nucleic acid in a maternal sample, regardless of the ability to detect the Y chromosome, particularly for samples including normal nucleic acids from a female fetus.

Abstract translation: 本发明一般涉及用于检测胎儿核酸的方法和用于诊断胎儿异常的方法。 在某些实施方案中，本发明提供了用于确定胎儿核酸是否存在于母体样品中的方法，包括获得怀疑包括胎儿核酸的母体样品，并对样品进行测序反应以确定至少部分 Y染色体，从而确定胎儿核酸存在于样品中。 在其它实施方案中，本发明提供用于定量或定性分析以检测母体样品中的胎儿核酸的方法，而不管检测Y染色体的能力，特别是对于包括来自雌性胎儿的正常核酸的样品的检测能力。

公开(公告)号：WO2010039189A3

公开(公告)日：2011-03-03

申请号：PCT/US2009005287

申请日：2009-09-23

Applicant: HELICOS BIOSCIENCES CORP ,  THOMPSON JOHN F

Inventor： THOMPSON JOHN F

IPC: G01N33/48 ,  C12P19/34

CPC classification number: C12Q1/6869

Abstract: The invention provides methods and compositions for sequencing DNA or RNA samples that would be impossible to do via standard means. Samples that are part of mixtures or are degraded or modified may be sequenced so that the individual from whom the sample originated can be determined or useful biological information can be associated with the sample. Methods are described that allow high efficiency sequencing of degraded nucleic acid samples such as are typically found with FFPE. Samples from severely degraded sources or that have been treated with preservatives such as formalin may be sequenced. In addition to permitting identification of samples, information about disease or treatment status may also be determined.

Abstract translation: 本发明提供了用于测序DNA或RNA样品的方法和组合物，其通过标准方法是不可能的。 作为混合物的一部分或被降解或修饰的样品可以被测序，使得来自样品的个体可以被确定或有用的生物信息可以与样品相关联。 描述了允许对通常用FFPE发现的降解的核酸样品进行高效测序的方法。 来自严重降解来源或已用防腐剂如福尔马林处理的样品可以进行测序。 除了允许样品的鉴定之外，还可以确定关于疾病或治疗状态的信息。

公开(公告)号：WO2009023048A2

公开(公告)日：2009-02-19

申请号：PCT/US2008005928

申请日：2008-05-09

Applicant: PERLEGEN SCIENCES INC ,  COX DAVID R ,  FRAZER KELLY A ,  HINDS DAVID A ,  HYDE CRAIG L ,  THOMPSON JOHN F

Inventor： COX DAVID R ,  FRAZER KELLY A ,  HINDS DAVID A ,  HYDE CRAIG L ,  THOMPSON JOHN F

IPC: C12Q1/68

CPC classification number: C12Q1/6883 ,  C12Q2600/136 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/16 ,  C12Q2600/172

Abstract: Correlations between polymorphisms and metabolic syndrome, insulin resistance, obesity, high blood pressure, dyslipidemia, diabetes and/or myocardial infarction arc provided. Methods of diagnosing and treating metabolic syndrome, insulin resistance, obesity, high blood pressure, dyslipidemia, diabetes and/or myocardial infarction are provided. Systems and kits for diagnosis and treatment of metabolic syndrome, insulin resistance, obesity, high blood pressure, dyslipidemia. diabetes and/or myocardial infarction are provided.

Abstract translation: 提供了多态性与代谢综合征，胰岛素抵抗，肥胖症，高血压，血脂异常，糖尿病和/或心肌梗塞之间的相关性。 提供了诊断和治疗代谢综合征，胰岛素抵抗，肥胖症，高血压，血脂异常，糖尿病和/或心肌梗塞的方法。 诊断和治疗代谢综合征，胰岛素抵抗，肥胖，高血压，血脂异常的系统和试剂盒。 提供糖尿病和/或心肌梗塞。

公开(公告)号：WO2004084800A3

公开(公告)日：2005-10-06

申请号：PCT/US0327373

申请日：2003-08-29

Applicant: PFIZER PROD INC ,  OXFORD GLYCOSCIENCES UK LTD ,  THOMPSON JOHN F ,  POTTER DAVID M ,  KNIGHT DELVIN R JR ,  GUALBERTO ANTONIO ,  LANDSCHULZ KATHERINE T ,  HERATH HERATH MUDIYANSELAGE AT ,  ROHLFF CHRISTIAN

Inventor： THOMPSON JOHN F ,  POTTER DAVID M ,  KNIGHT DELVIN R JR ,  GUALBERTO ANTONIO ,  LANDSCHULZ KATHERINE T ,  HERATH HERATH MUDIYANSELAGE AT ,  ROHLFF CHRISTIAN

IPC: A61K20060101 ,  A61K38/00 ,  A61K38/08 ,  A61K38/10 ,  A61K38/17 ,  C07K7/06 ,  C07K7/08 ,  C07K14/47 ,  G01N33/68

CPC classification number: C07K14/47 ,  A61K38/00 ,  G01N33/6893 ,  G01N2500/04 ,  G01N2500/10 ,  G01N2500/20

Abstract: Proteins are identified that exhibit an altered expression in mammalian cardiac tissue in response to A3 agonist infusion. These proteins are termed A3 receptor-mediated cardioprotective proteins (A3Ps) and protein isoforms (A3PIs) and are useful as pharmaceuticals and as targets in screening methods for identifying an agent capable of modulating the expression of one or more A3P and/or A3PI.

Abstract translation: 鉴定出响应于A3激动剂输注在哺乳动物心脏组织中表现出改变的蛋白质。 这些蛋白质被称为A3受体介导的心脏保护性蛋白质（A3P）和蛋白质同种型（A3PI），并且可用作鉴定能够调节一种或多种A3P和/或A3PI的表达的试剂的筛选方法中的药物和靶标。

公开(公告)号：WO2015025217A3

公开(公告)日：2015-11-19

申请号：PCT/IB2014002029

申请日：2014-06-11

Applicant: PORTAGE PHARMACEUTICALS LTD ,  LITTMAN BRUCE H ,  THOMPSON JOHN F ,  MARCOUX FRANK W

Inventor： LITTMAN BRUCE H ,  THOMPSON JOHN F ,  MARCOUX FRANK W

IPC: A61K47/48

CPC classification number: A61K47/48246 ,  A61K38/1709 ,  A61K38/45 ,  A61K38/465 ,  A61K38/47 ,  A61K38/482 ,  A61K38/51 ,  A61K39/05 ,  A61K47/645 ,  C07K14/4702 ,  C07K2319/01 ,  C07K2319/10 ,  C12N9/12 ,  C12N9/16 ,  C12N9/2402 ,  C12N9/6424 ,  C12N9/88 ,  C12N15/1137 ,  C12N2310/3513 ,  C12Y207/1101 ,  C12Y301/06013 ,  C12Y302/01045 ,  C12Y302/01076 ,  C12Y304/21093 ,  C12Y406/01002

Abstract: Embodiments disclosed herein provide compositions for conjugates, including fusion proteins, and methods of using them to treat a variety of conditions. In some embodiments, the conjugates and/or fusion proteins incorporate a 60-amino acid human homeodomain (e.g., peptides derived from human HOX genes), to translocate functional and regulatory peptides and proteins or other biologically active molecules such as nucleic acids, which are not naturally associated with the human homeodomain, across cell and nuclear membranes to intended sites of action without provoking an unwanted immune response that may reduce exposure to the conjugate and/or result in a clinical adverse event. In further embodiments, disclosed conjugates and fusion proteins can pass through the blood-brain barrier to allow entry into the CNS. In various embodiments, the disclosed compositions are suitable for delivery into a cell (i) the expression product of a gene of interest and/or (ii) novel peptides or polynucleotides to regulate gene function.

Abstract translation: 本文公开的实施方案提供了用于缀合物的组合物，包括融合蛋白，以及使用它们治疗多种病症的方法。 在一些实施方案中，缀合物和/或融合蛋白掺入60个氨基酸的人同源结构域（例如，源自人HOX基因的肽），以易位功能和调节肽和蛋白质或其他生物活性分子如核酸， 不与人类同源结构域天然相关，穿过细胞膜和核膜到达预期的作用位置，而没有引起可能减少暴露于缀合物和/或导致临床不良事件的不需要的免疫应答。 在进一步的实施方案中，公开的缀合物和融合蛋白可以通过血脑屏障以允许进入CNS。 在各种实施方案中，所公开的组合物适合递送到细胞中（i）目的基因的表达产物和/或（ii）用于调节基因功能的新型肽或多核苷酸。

公开(公告)号：WO2015025217A2

公开(公告)日：2015-02-26

申请号：PCT/IB2014002029

申请日：2014-06-11

Applicant: PORTAGE PHARMACEUTICALS LTD ,  LITTMAN BRUCE H ,  THOMPSON JOHN F ,  MARCOUX FRANK W

Inventor： LITTMAN BRUCE H ,  THOMPSON JOHN F ,  MARCOUX FRANK W

IPC: A61K47/48

CPC classification number: A61K47/48246 ,  A61K38/1709 ,  A61K38/45 ,  A61K38/465 ,  A61K38/47 ,  A61K38/482 ,  A61K38/51 ,  A61K39/05 ,  A61K47/645 ,  C07K14/4702 ,  C07K2319/01 ,  C07K2319/10 ,  C12N9/12 ,  C12N9/16 ,  C12N9/2402 ,  C12N9/6424 ,  C12N9/88 ,  C12N15/1137 ,  C12N2310/3513 ,  C12Y207/1101 ,  C12Y301/06013 ,  C12Y302/01045 ,  C12Y302/01076 ,  C12Y304/21093 ,  C12Y406/01002

Abstract: Embodiments disclosed herein provide compositions for conjugates, including fusion proteins, and methods of using them to treat a variety of conditions. In some embodiments, the conjugates and/or fusion proteins incorporate a 60-amino acid human homeodomain (e.g., peptides derived from human HOX genes), to translocate functional and regulatory peptides and proteins or other biologically active molecules such as nucleic acids, which are not naturally associated with the human homeodomain, across cell and nuclear membranes to intended sites of action without provoking an unwanted immune response that may reduce exposure to the conjugate and/or result in a clinical adverse event. In further embodiments, disclosed conjugates and fusion proteins can pass through the blood-brain barrier to allow entry into the CNS. In various embodiments, the disclosed compositions are suitable for delivery into a cell (i) the expression product of a gene of interest and/or (ii) novel peptides or polynucleotides to regulate gene function.

Abstract translation: 本文公开的实施方案提供了用于缀合物的组合物，包括融合蛋白，以及使用它们来治疗各种病症的方法。 在一些实施方案中，缀合物和/或融合蛋白掺入60个氨基酸的人同源结构域（例如衍生自人HOX基因的肽），以移位功能和调节肽和蛋白质或其他生物活性分子，例如核酸，其为 不是天然地与人类同源结构域相关联，跨细胞和核膜到预期的作用位点，而不引发可能减少暴露于缀合物和/或导致临床不良事件的不需要的免疫应答。 在另外的实施方案中，所公开的缀合物和融合蛋白可以通过血脑屏障以允许进入CNS。 在各种实施方案中，所公开的组合物适于递送至细胞（i）感兴趣的基因的表达产物和/或（ii）新的肽或多核苷酸以调节基因功能。

公开(公告)号：WO2009023048A3

公开(公告)日：2010-01-14

申请号：PCT/US2008005928

申请日：2008-05-09

Applicant: PERLEGEN SCIENCES INC ,  COX DAVID R ,  FRAZER KELLY A ,  HINDS DAVID A ,  HYDE CRAIG L ,  THOMPSON JOHN F

Inventor： COX DAVID R ,  FRAZER KELLY A ,  HINDS DAVID A ,  HYDE CRAIG L ,  THOMPSON JOHN F

IPC: C12Q1/68

CPC classification number: C12Q1/6883 ,  C12Q2600/136 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/16 ,  C12Q2600/172

Abstract: Correlations between polymorphisms and metabolic syndrome, insulin resistance, obesity, high blood pressure, dyslipidemia, diabetes and/or myocardial infarction arc provided. Methods of diagnosing and treating metabolic syndrome, insulin resistance, obesity, high blood pressure, dyslipidemia, diabetes and/or myocardial infarction are provided. Systems and kits for diagnosis and treatment of metabolic syndrome, insulin resistance, obesity, high blood pressure, dyslipidemia. diabetes and/or myocardial infarction are provided.

Abstract translation: 提供多态性与代谢综合征之间的相关性，胰岛素抵抗，肥胖，高血压，血脂异常，糖尿病和/或心肌梗塞。 提供诊断和治疗代谢综合征，胰岛素抵抗，肥胖，高血压，血脂异常，糖尿病和/或心肌梗死的方法。 用于诊断和治疗代谢综合征，胰岛素抵抗，肥胖，高血压，血脂异常的系统和试剂盒。 提供糖尿病和/或心肌梗塞。