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1. 发明申请

US20070065389A1 Genes from chromosomes 3, 5 and 11 involved in premature canities 审中-公开
标题翻译：来自染色体3,5和11的基因涉及早衰
公开(公告)号：US20070065389A1
公开(公告)日：2007-03-22
申请号：US11583512
申请日：2006-10-18
申请人： Olivier De Lacharriere , Jean-Louis Blouin , Claire Deloche , Stylianos Antonarakis
发明人： Olivier De Lacharriere , Jean-Louis Blouin , Claire Deloche , Stylianos Antonarakis
IPC分类号： A61K8/73 , C12Q1/68 , A61K48/00
CPC分类号： A61Q5/10 , A61K8/35 , A61K48/00 , A61Q19/04 , C12Q1/6883 , C12Q2600/148 , C12Q2600/156 , C12Q2600/172
摘要： The disclosure provides a cosmetic or therapeutic method for combating canities and/or stimulating natural pigmentation and/or treating a pigmentation disorder comprising administering at least one polynucleotide fragment comprising 18 consecutive nucleotides, the sequence of which corresponds to all or part of a gene on human chromosome 3 selected from KIAA1042, CCK, CACNA1D, ARHGEF3 and AL133097 genes, or the sequence of which corresponds to all or part of a gene on human chromosome 5 selected from the KLHL3, HNRPA0, CDC25C, EGR1, C5orf7, LOC51308, ETF1, HSPA9B, PDCHA1 to PDCHA13, CSF1R, RPL7, PDGFRB, TCOF1, AL133039, CD74, RPS14, NDST1, G3BP, GLRA1, C5orf3, MFAP3, GALNT10 and FLJ117151 genes, or the sequence of which corresponds to all or part of a gene or human chromosome 11 selected from the GUCY1A2, CUL5, ACAT1, NPAT, ATM, AF035326, AF035327m A0035328m BC029536, FLJ20535, DRD2, ENS303941, IGSF4, LOC1092, BC010946, TAGLN, PCSK7 and ENS300650 genes, and diagnostic methods employing same.
摘要翻译：本公开提供了一种用于对抗癌症和/或刺激天然色素沉着和/或治疗色素沉着病症的化妆品或治疗方法，其包括施用至少一种包含18个连续核苷酸的多核苷酸片段，其中所述多核苷酸片段的序列对应于人的全部或部分基因染色体3选自KIAA1042，CCK，CACNA1D，ARHGEF3和AL133097基因，或其序列对应于选自KLHL3，HNRPA0，CDC25C，EGR1，C5orf7，LOC51308，ETF1，HSPA9B的人染色体5上的全部或部分基因，PDCHA1至PDCHA13，CSF1R，RPL7，PDGFRB，TCOF1，AL133039，CD74，RPS14，NDST1，G3BP，GLRA1，C5orf3，MFAP3，GALNT10和FLJ117151基因，或其序列对应于全部或部分基因或人染色体 11选自GUCY1A2，CUL5，ACAT1，NPAT，ATM，AF035326，AF035327m A0035328m BC029536，FLJ20535，DRD2，ENS303941，IGSF4，LOC1092，BC010946，TAGLN，PCSK7和ENS300650基因，以及采用相同

2. 发明申请

US20050214821A1 Chromosome 6 and 9 genes involved in premature canities 审中-公开
标题翻译：染色体6和9基因涉及早产儿
公开(公告)号：US20050214821A1
公开(公告)日：2005-09-29
申请号：US11031012
申请日：2005-01-10
申请人： Olivier De Lacharriere , Jean-Louis Blouin , Claire Deloche , Stylianos Antonarakis
发明人： Olivier De Lacharriere , Jean-Louis Blouin , Claire Deloche , Stylianos Antonarakis
IPC分类号： C12Q1/68 , A61K7/06 , A61K7/11
CPC分类号： C12Q1/6883 , C12Q2600/148 , C12Q2600/156 , C12Q2600/172
摘要： The invention provides a cosmetic or therapeutic method for combating canities and/or stimulating natural pigmentation and/or treating a pigmentation disorder comprising administering at least one polynucleotide fragment comprising 18 consecutive nucleotides, the sequence of which corresponds to all or part of a gene on human chromosome 9 selected from the group consisting of the FREQ, NT_030046.18, NT_030046.17, GTF3C5, CEL, CELL, FS, ABO, BARHL1, DDX31, GTF3C4 and Q96MA6 genes, or the sequence of which corresponds to all or part of a gene on human chromosome 6 selected from the HLAG, NT_007592.445, NT_007592.446, NT_007592.506, NT_007592.507, NT_007592.508, HSPA1B, G8, NEU1, NG22, BAT8, HLA-DMB, HLA-DMA, BRD2, HLA-DQA1, HLA-DQA2, NT_007592.588, GRM4, RNF23, FLJ22638, NT_007592.459 and NT_007592.457 genes, and diagnostic methods employing same.
摘要翻译：本发明提供了一种用于对抗癌症和/或刺激天然色素沉着和/或治疗色素沉着病症的化妆品或治疗方法，其包括施用至少一种包含18个连续核苷酸的多核苷酸片段，其序列对应于人的全部或部分基因染色体9选自FREQ，NT_030046.18，NT_030046.17，GTF3C5，CEL，CELL，FS，ABO，BARHL1，DDX31，GTF3C4和Q96MA6基因，或其序列对应于全部或部分选自HLAG，NT_007592.445，NT_007592.446，NT_007592.506，NT_007592.507，NT_007592.508，HSPA1B，G8，NEU1，NG22，BAT8，HLA-DMB，HLA-DMA，BRD2， HLA-DQA1，HLA-DQA2，NT_007592.588，GRM4，RNF23，FLJ22638，NT_007592.459和NT_007592.457基因，以及采用其的诊断方法。

3. 发明申请

US20050208010A1 Genes from Chromosome 3, 5 and 11 involved in premature canities 审中-公开
标题翻译：来自染色体3,5和11的基因涉及早衰
公开(公告)号：US20050208010A1
公开(公告)日：2005-09-22
申请号：US11031033
申请日：2005-01-10
申请人： Olivier De Lacharriere , Jean-Louis Blouin , Claire Deloche , Stylianos Antonarakis
发明人： Olivier De Lacharriere , Jean-Louis Blouin , Claire Deloche , Stylianos Antonarakis
IPC分类号： A61K8/35 , A61K48/00 , A61Q5/10 , A61Q19/04 , C12Q1/68 , A61K7/06 , A61K7/11
CPC分类号： A61Q5/10 , A61K8/35 , A61K48/00 , A61Q19/04 , C12Q1/6883 , C12Q2600/148 , C12Q2600/156 , C12Q2600/172
摘要： The invention provides a cosmetic or therapeutic method for combating canities and/or stimulating natural pigmentation and/or treating a pigmentation disorder comprising administering at least one polynucleotide fragment comprising 18 consecutive nucleotides, the sequence of which corresponds to all or part of a gene on human chromosome 3 selected from KIAA 042, CCK, CACNA1D, ARHGEF3 and AL133097 genes, or the sequence of which corresponds to all or part of a gene on human chromosome 5 selected from the KLHL3, HNRPA0, CDC25C, EGR1, C5orf6, C5orf7, LOC51308, ETF1, HSPA9B, PCDHA1 to PCDHA13, CSF1R, RPL7, PDGFRB, TCOF1, AL133039, CD74, RPS14, NDST1, G3BP, GLRA1, C5orf3, MFAP3, GALNT10 and FLJ 117151 genes, or the sequence of which corresponds to all or part of a gene on human chromosome 11 selected from the GUCY1A2, CUL5, ACAT1, NPAT, ATM, AF035326, AF035327, AF035328, BC029536, FLJ20535, DRD2, ENS303941, IGSF4, LOC51092, BC010946, TAGLN, PCSK7 and ENS300650 genes, and diagnostic methods employing same.
摘要翻译：本发明提供了一种用于对抗癌症和/或刺激天然色素沉着和/或治疗色素沉着病症的化妆品或治疗方法，其包括施用至少一种包含18个连续核苷酸的多核苷酸片段，其序列对应于人的全部或部分基因染色体3选自KIAA 042，CCK，CACNA1D，ARHGEF3和AL133097基因，或其序列对应于选自KLHL3，HNRPA0，CDC25C，EGR1，C5orf6，C5orf7，LOC51308等的人类染色体5上的全部或部分基因。 ETF1，HSPA9B，PCDHA1至PCDHA13，CSF1R，RPL7，PDGFRB，TCOF1，AL133039，CD74，RPS14，NDST1,3GBP，GLRA1，C5orf3，MFAP3，GALNT10和FLJ 117151基因，或其序列对应于全部或部分基因，选自GUCY1A2，CUL5，ACAT1，NPAT，ATM，AF035326，AF035327，AF035328，BC029536，FLJ20535，DRD2，ENS303941，IGSF4，LOC51092，BC010946，TAGLN，PCSK7和ENS300650基因的人染色体11基因和诊断方法用同样的

4. 发明申请

US20090239312A1 Chromosome 6 and 9 Genes Involved in Premature Canities 审中-公开
标题翻译：染色体6和9基因涉及早产性
公开(公告)号：US20090239312A1
公开(公告)日：2009-09-24
申请号：US12474244
申请日：2009-05-28
申请人： Olivier De Lacharriere , Jean-Louis Blouin , Claire Deloche , Stylianos Antonarakis
发明人： Olivier De Lacharriere , Jean-Louis Blouin , Claire Deloche , Stylianos Antonarakis
IPC分类号： G01N33/566
CPC分类号： C12Q1/6883 , C12Q2600/148 , C12Q2600/156 , C12Q2600/172
摘要： The invention provides a cosmetic or therapeutic method for combating canities and/or stimulating natural pigmentation and/or treating a pigmentation disorder comprising administering at least one polynucleotide fragment comprising 18 consecutive nucleotides, the sequence of which corresponds to all or part of a gene on human chromosome 9 selected from the group consisting of the FREQ, NT_030046.18, NT_030046.17, GTF3C5, CEL, CELL, FS, ABO, BARBLI, DDX31, GTF3C4 and Q96MA6 genes, or the sequence of which corresponds to all or part of a gene on human chromosome 6 selected from the HLAG, NT_007592.445, NT_007592.446, NT_007592.506, NT_007592.507, NT_007592.508, HSPA1 B, G8, NEU1, NG22, BAT8, HLA-DMB, HLA-DMA, BRD2, HLA-DQA1, HLA-DQA2, NT_007592.588, GRM4, RNF23, FLJ22638, NT_007592.459 and NT_007592.457 genes, and diagnostic methods employing same.
摘要翻译：本发明提供了一种用于对抗癌症和/或刺激天然色素沉着和/或治疗色素沉着病症的化妆品或治疗方法，其包括施用至少一种包含18个连续核苷酸的多核苷酸片段，其序列对应于人的全部或部分基因染色体9选自FREQ，NT_030046.18，NT_030046.17，GTF3C5，CEL，CELL，FS，ABO，BARBLI，DDX31，GTF3C4和Q96MA6基因，或其序列对应于全部或部分选自HLAG，NT_007592.445，NT_007592.446，NT_007592.506，NT_007592.507，NT_007592.508，HSPA1B，G8，NEU1，NG22，BAT8，HLA-DMB，HLA-DMA，BRD2的人6号染色体上的基因，HLA-DQA1，HLA-DQA2，NT_007592.588，GRM4，RNF23，FLJ22638，NT_007592.459和NT_007592.457基因以及使用其的诊断方法。

5. 发明申请

US20070092894A1 Methods and kits for detecting single nucleotide polymorphisms of chromosome implicated in premature canities 审中-公开
标题翻译：用于检测涉及早产儿的染色体单核苷酸多态性的方法和试剂盒
公开(公告)号：US20070092894A1
公开(公告)日：2007-04-26
申请号：US11486062
申请日：2006-07-14
申请人： Olivier De Lacharriere , Jean-Louis Blouin , Claire Deloche , Stylianos Antonarakis , Emmanouil Dermitzakis
发明人： Olivier De Lacharriere , Jean-Louis Blouin , Claire Deloche , Stylianos Antonarakis , Emmanouil Dermitzakis
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q1/6886 , C12Q2600/172
摘要： Methods and kits for diagnosing a predisposition to premature canities in an individual are disclosed. A method for diagnosing a predisposition to premature canities in an individual comprises detecting at least one SNP marker of the human chromosome 9, selected from the group consisting of rs306534, rs3739902, rs575916, and rs365297. A kit for diagnosing a predisposition to premature canities comprises a means for detecting in a sample of human genetic material, the allele of a SNP marker of the human chromosome 9 selected from the markers rs306534, rs3739902, rs575916 and rs365297; and a positive or negative control.
摘要翻译：公开了用于诊断个体早产儿倾向的方法和试剂盒。用于诊断个体早产性易感性的方法包括检测选自rs306534，rs3739902，rs575916和rs365297的人染色体9的至少一个SNP标记。用于诊断早产性易感性的试剂盒包括在人类遗传物质的样品中检测选自标记rs306534，rs3739902，rs575916和rs365297的人染色体9的SNP标记的等位基因的方法; 和正或负控制。

6. 发明申请

US20050037388A1 Method for detecting diseases caused by chromosomal imbalances 审中-公开
标题翻译：检测由染色体失衡引起的疾病的方法
公开(公告)号：US20050037388A1
公开(公告)日：2005-02-17
申请号：US10852943
申请日：2004-05-25
申请人： Stylianos Antonarakis , Samuel Deutsch
发明人： Stylianos Antonarakis , Samuel Deutsch
IPC分类号： C12Q1/68 , C12P19/34
CPC分类号： C12Q1/6883 , C12Q1/6827 , C12Q2600/156 , C12Q2531/113 , C12Q2565/301 , C12Q2545/101
摘要： The invention provides a universal method to detect the presence of chromosomal abnormalities by using paralogous genes as internal controls in an amplification reaction. The method is rapid, high throughput, and amenable to semi-automated or fully automated analyses. In one aspect, the method comprises providing a pair of primers which can specifically hybridize to each of a set of paralogous genes under conditions used in amplification reactions, such as PCR. Paralogous genes are preferably on different chromosomes but may also be on the same chromosome (e.g., to detect loss or gain of different chromosome arms). By comparing the amount of amplified products generated, the relative dose of each gene can be determined and correlated with the relative dose of each chromosomal region and/or each chromosome, on which the gene is located.
摘要翻译：本发明提供了在扩增反应中通过使用旁系同源基因作为内部对照来检测染色体异常的存在的通用方法。该方法快速，高通量，适用于半自动或全自动分析。一方面，该方法包括提供一对引物，其可以在扩增反应（例如PCR）中使用的条件下与一组旁系同源基因中的每一个特异性杂交。旁系同源基因优选在不同的染色体上，但也可以在相同的染色体上（例如，以检测不同染色体臂的损失或增益）。通过比较产生的扩增产物的量，可以确定每个基因的相对剂量并与基因所在的每个染色体区和/或每个染色体的相对剂量相关。

7. 发明授权

US07217806B1 Gene defective in APECED and its use 失效
标题翻译：基因缺陷在APECED及其使用
公开(公告)号：US07217806B1
公开(公告)日：2007-05-15
申请号：US09508658
申请日：1998-09-23
申请人： Kai Krohn , Maarit Heino , Pärt Peterson , Hamish Scott , Stylianos Antonarakis , Maria Lalioti , Nobuyoshi Shimizu , Jun Kudoh
发明人： Kai Krohn , Maarit Heino , Pärt Peterson , Hamish Scott , Stylianos Antonarakis , Maria Lalioti , Nobuyoshi Shimizu , Jun Kudoh
IPC分类号： C07H21/02 , C07H21/04 , C07K1/00 , C07K14/00 , C07K17/00 , C12Q1/68
CPC分类号： C07K14/4713 , A61K38/00
摘要： The present invention relates to a novel gene, a novel protein encoded by said gene, a mutated form of the gene and to diagnostic and therapeutic uses of the gene or a mutated form thereof. More specifically, the present invention relates to a novel gene defective in autoimmune polyendocrinopathy syndrome type I (APS I), also called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) (MIM No. 240,300).
摘要翻译：本发明涉及新基因，由所述基因编码的新型蛋白质，突变形式的基因以及该基因或其突变形式的诊断和治疗用途。更具体地，本发明涉及自身免疫性多发性内分泌炎综合征I型（APS I），也称为自身免疫性多发性内分泌病 - 念珠菌病外胚层营养不良（APECED）（MIM No.240,300）的缺陷型新基因。

8. 发明申请

US20070020674A1 Novel gene defective in APECED and its use 失效
标题翻译： APECED中的新基因缺陷及其用途
公开(公告)号：US20070020674A1
公开(公告)日：2007-01-25
申请号：US11501979
申请日：2006-08-10
申请人： Kai Krohn , Maarit Heino , Part Peterson , Hamish Scott , Stylianos Antonarakis , Maria Lalioti , Nobuyoshi Shimizu , Jun Kudoh
发明人： Kai Krohn , Maarit Heino , Part Peterson , Hamish Scott , Stylianos Antonarakis , Maria Lalioti , Nobuyoshi Shimizu , Jun Kudoh
IPC分类号： C12Q1/68 , G01N33/567 , C07H21/04 , C12P21/06 , C07K14/705
CPC分类号： C07K14/4713 , A61K38/00
摘要： The present invention relates to a method for the diagnosis of a disease related to immune maturation and regulation of immune response towards self and nonself, comprising the steps of detecting in a biological specimen the presence of a DNA sequence comprising the sequence of SEQ ID NO:1.
摘要翻译：本发明涉及一种用于诊断与免疫成熟有关的疾病和对自身和非自身的免疫应答调节的方法，包括以下步骤：在生物样本中检测包含SEQ ID NO： 1。

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