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    • 4. 发明申请
    • MEANS AND METHODS FOR TREATING OR DIAGNOSING IDH1 R132H MUTANT-POSITIVE CANCERS
    • 治疗或诊断IDH1 R132H突变型癌的手段和方法
    • WO2013102641A1
    • 2013-07-11
    • PCT/EP2013/050048
    • 2013-01-03
    • DEUTSCHES KREBSFORSCHUNGSZENTRUMRUPRECHT-KARLS-UNIVERISTÄT HEIDELBERG
    • PLATTEN, MichaelSCHUMACHER, TheresaWICK, Wolfgang
    • A61K38/43G01N33/00A61P35/00
    • G01N33/57496A61K38/43A61K39/0011C12N9/0006C12Y101/01042G01N33/57407G01N33/57426G01N2333/904
    • The present invention concerns the field of tumor therapeutics and diagnostics. Specifically, it relates to a peptide comprising at least 8 amino acids in length which are present as contiguous amino acid sequence in the human Isocitratdehydrogenase Type 1 (IDH1), wherein said peptide has at least one amino acid exchange from R to H at a position corresponding to position 132, for use in preventing and/or treating cancer. Further contemplated is a medicament comprising the said peptide. Furthermore, the invention relates to a method for diagnosing cancer characterized by having a mutation in the genome of at least some cancer cells which results in the expression of a mutant IDH1 having the R132H mutation comprising the steps of contacting a blood sample of a subject suspected to suffer from such a cancer with a peptide comprising at least 10 amino acids in length which are present as contiguous amino acid sequence in the IDH1,wherein said peptide has at least one amino acid exchange from R to H at a position corresponding to position 132 for a time and under conditions which allow for specific binding of a component of the immune system to the peptide, and determining whether, or not, binding of the said component of the immune system to the peptide occurred, wherein the cancer is diagnosed if the occurrence of binding has been determined. Provided by the invention is also a kit and a device for carrying out said method.
    • 本发明涉及肿瘤治疗和诊断领域。 具体地说,本发明涉及一种包含长度为至少8个氨基酸的肽,其在人类异柠檬酸脱氢酶1型(IDH1)中作为连续氨基酸序列存在,其中所述肽在位置上具有至少一个R至H的氨基酸交换 对应于位置132,用于预防和/或治疗癌症。 进一步考虑的是包含所述肽的药物。 此外,本发明涉及一种用于诊断癌症的方法,其特征在于在至少一些癌细胞的基因组中具有导致具有R132H突变的突变体IDH1的表达的突变,包括以下步骤:使被怀疑的受试者的血液样品 患有长度为至少10个氨基酸的肽的这种癌症,其以IDH1中的连续氨基酸序列存在,其中所述肽在对应于位置132的位置具有至少一个R至H的氨基酸交换 在一段时间和在允许免疫系统的组分与肽的特异性结合的条件下,以及确定是否发生免疫系统的所述组分与肽的结合,其中诊断出癌症是否 已经确定了结合的发生。 本发明还提供了一种用于执行所述方法的套件和装置。
    • 6. 发明申请
    • METHOD FOR VARIANT DIFFERENTIATION UTILIZING A PYROSEQUENCING DISPENSATION ORDER
    • 使用色差分配订单的变异差分法
    • WO2013113885A1
    • 2013-08-08
    • PCT/EP2013/052051
    • 2013-02-01
    • RUPRECHT-KARLS-UNIVERISTÄT HEIDELBERG
    • SKOROKHOD, Alexander
    • C12Q1/68
    • C12Q1/6869C12Q2565/301
    • The present invention relates to a method for differentiating between at least two sequence variants of a polynucleotide by pyrosequencing, wherein at least one sequence variant comprises at least one mutation, said method comprising a) generating a dispensation order based on a nucleotide sequence encompassing the nucleotides affected by said variants, said dispensation order comprising dispensations corresponding to each nucleotide occurring in at least one of the variants, said nucleotide dispensations ordered in a sequence i) generating on average a pyrogram peak for at least every second nucleotide dispensation for each variant and ii) generating the maximal possible number of sequence pyrogram peaks for each variant; b) generating according to the dispensation order of a) a first pyrogram comprising expected intensity values for a first variant and at least a second pyrogram comprising expected intensity values for at least one further variant; c) comparing a sample pyrogram comprising measured intensity values, said sample pyrogram being derived from pyrosequencing analysis of a sample polynucleotide according to the nucleotide dispensation order of a), with the said first and at least the said second pyrogram generated in step b); and d) differentiating between said at least two sequence variants, wherein the sample polynucleotide corresponds to the first variant if the sample pyrogram is essentially identical with the first pyrogram and wherein the sample polynucleotide corresponds to a further variant if the sample pyrogram is essentially identical with a further pyrogram.
    • 本发明涉及通过焦磷酸测序来区分多核苷酸的至少两个序列变体的方法,其中至少一个序列变体包含至少一个突变,所述方法包括a)基于包含核苷酸的核苷酸序列产生分配顺序 所述分配顺序包括对应于至少一个变体中出现的每个核苷酸的分配,所述核苷酸分配在序列中排序i)平均每个变体产生至少每第二个核苷酸分配的热克峰,ii )为每个变体产生最大可能数量的序列辉度峰值; b)根据分配顺序生成a)包括第一变体的预期强度值的第一热解图和至少一个包含至少一个其它变体的预期强度值的第二热解图; c)比较包含测量强度值的样品热解图,所述样品热解图是根据a)的核苷酸分配顺序衍生自样品多核苷酸的焦磷酸测序分析与步骤b)中产生的所述第一和至少所述第二热解图; 和d)在所述至少两个序列变体之间进行区分,其中如果样品热解图与第一热解图基本相同,则样品多核苷酸对应于第一变体,并且其中样品多核苷酸对应于另一变体,如果样品焦点图与 另一个焦点。
    • 9. 发明专利
    • MEANS AND METHODS FOR TREATING OR DIAGNOSING IDH1 R132H MUTANT-POSITIVE CANCERS
    • SG11201403877PA
    • 2014-09-26
    • SG11201403877P
    • 2013-01-03
    • DEUTSCHES KREBSFORSCHRUPRECHT KARLS UNIVERISTÄT HEIDELBERG
    • PLATTEN MICHAELSCHUMACHER THERESAWICK WOLFGANG
    • A61K38/43A61P35/00G01N33/00
    • The present invention concerns the field of tumor therapeutics and diagnostics. Specifically, it relates to a peptide comprising at least 8 amino acids in length which are present as contiguous amino acid sequence in the human Isocitratdehydrogenase Type 1 (IDH1), wherein said peptide has at least one amino acid exchange from R to H at a position corresponding to position 132, for use in preventing and/or treating cancer. Further contemplated is a medicament comprising the said peptide. Furthermore, the invention relates to a method for diagnosing cancer characterized by having a mutation in the genome of at least some cancer cells which results in the expression of a mutant IDH1 having the R132H mutation comprising the steps of contacting a blood sample of a subject suspected to suffer from such a cancer with a peptide comprising at least 10 amino acids in length which are present as contiguous amino acid sequence in the IDH1, wherein said peptide has at least one amino acid exchange from R to H at a position corresponding to position 132 for a time and under conditions which allow for specific binding of a component of the immune system to the peptide, and determining whether, or not, binding of the said component of the immune system to the peptide occurred, wherein the cancer is diagnosed if the occurrence of binding has been determined. Provided by the invention is also a kit and a device for carrying out said method.