公开(公告)号：EP1259606B1

公开(公告)日：2010-04-28

申请号：EP01907820.3

申请日：2001-02-15

申请人： Aventis Pharma S.A. ,  INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)

发明人： KOUTNIKOVA, Hana ,  BRICE, Alexis ,  FOURNIER, Alain ,  PRADIER, Laurent ,  PRADES, Catherine ,  ARNOULD-REGUIGNE, Isabelle ,  ROSIER-MONTUS, Marie-Françoise ,  CORTI, Olga

IPC分类号： C12N15/12 ,  C12N5/10 ,  C07K14/47 ,  C07K16/18 ,  G01N33/50 ,  A61K38/17

CPC分类号： C07K14/47 ,  A01K2217/05 ,  A61K38/00 ,  A61K48/00 ,  C07K2319/00

公开(公告)号：EP1392862A2

公开(公告)日：2004-03-03

申请号：EP02727327.5

申请日：2002-02-12

申请人： Aventis Pharma S.A. ,  THE GOVERNMENT OF THE UNITED STATES OF AMERICA as represented by THE SECRETARY of the DEPARTMENT OF HEALTH AND HUMAN SERVICES

发明人： ARNOULD-REGUIGNE, Isabelle ,  PRADES, Catherine ,  NAUDIN, Laurent ,  LEMOINE, Cendrine ,  DEAN, Michael ,  DENEFLE, Patrice ,  ROSIER, Marie-Françoise

IPC分类号： C12Q1/68

CPC分类号： C07K14/705 ,  C12N2799/022

摘要： The present invention relates to a novel human ABCA12 gene as well as cDNAs encoding the novel full and short length ABCA12 proteins. The invention also relates to vectors and recombinant host cells comprising such nucleic acids, nucleotide probes and primers, and means for the detection of polymorphisms and mutations in the ABCA12 gene or in the corresponding protein produced by the allelic form of the ABCA12 gene.

公开(公告)号：EP1399587A2

公开(公告)日：2004-03-24

申请号：EP01999665.1

申请日：2001-12-07

申请人： Aventis Pharma S.A. ,  The Government of the United States of America, represented by the Secretary, Department of Health and Human Services

发明人： DENEFLE, Patrice ,  ROSIER-MONTUS, Marie-Françoise ,  PRADES, Catherine ,  ARNOULD-REGUIGNE, Isabelle ,  DUVERGER, Nicolas ,  ALLIKMETS, Rando ,  DEAN, Michael

IPC分类号： C12Q1/68 ,  C12N15/12 ,  C07K14/705 ,  C12N5/10 ,  C07K16/28 ,  A61K48/00 ,  A61K38/17 ,  G01N33/68 ,  C07K14/47

CPC分类号： C12Q1/6883 ,  A61K38/00 ,  C07K14/705 ,  C12N2799/021 ,  C12Q1/68 ,  C12Q2600/156 ,  C12Q2600/158

摘要： The present invention relates to nucleic acids corresponding to various exons of ABCA5, ABCA6, ABCA9, and ABCA10 genes as well as cDNAs encoding the novel full length of ABCA5, ABCA6, ABCA9, and ABCA10 proteins. The invention also relates to means for the detection of polymorphisms in general, and of mutations in particular, in the ABCA5, ABCA6, ABCA9, and ABCA10 genes or in the corresponding protein produced by the allelic form of the ABCA5, ABCA6, ABCA9, and ABCA10 genes.

公开(公告)号：EP1190063A1

公开(公告)日：2002-03-27

申请号：EP00940477.3

申请日：2000-06-08

申请人： Aventis Pharma S.A.

发明人： DENEFLE, Patrice ,  ROSIER-MONTUS, Marie-Françoise ,  ARNOULD-REGUIGNE, Isabelle ,  PRADES, Catherine ,  NAUDIN, Laurent ,  LEMOINE, Cendrine ,  DUVERGER, Nicolas ,  ASSMANN, Gerd ,  RUST, Stephan ,  FUNKE, Harald ,  BREWER, H., Bryan

IPC分类号： C12N15/52 ,  C07K14/705 ,  C12Q1/68 ,  C07K16/18

CPC分类号： C07K14/705

摘要： The invention relates to nucleic acids corresponding to different exons and introns of gene ABC1 which is shown to be a gene causing pathologies linked to cholesterol metabolism dysfunction causing diseases such as atherosclerosis, more particularly perturbation of reverse cholesterol transport and more particularly of FHD's such as Tangier disease.

公开(公告)号：EP1183350A2

公开(公告)日：2002-03-06

申请号：EP00931354.5

申请日：2000-05-25

申请人： Aventis Pharma S.A.

发明人： DENEFLE, Patrice ,  ROSIER-MONTUS, Marie-Françoise ,  ARNOULD-REGUIGNE, Isabelle ,  PRADES, Catherine ,  CLEPET, Christian

IPC分类号： C12N15/12 ,  C12Q1/68 ,  C07K14/47

CPC分类号： C07K14/47

摘要： The invention concerns nucleic acids expressed from genes located in the human genome in the 9q31-34 region of chromosome 9, likely to be involved in diseases genetically related to said chromosomal locus, in particular diseases of the plasmatic lipoprotein metabolism, more particularly the reverse transport of cholesterol. The invention also concerns polypeptides encoded by certain nucleic acids and antibodies specifically directed against such polypeptides, useful as diagnostic reagents. The invention further concerns vectors and recombinant host cells comprising said nucleic acids or fragments thereof.

公开(公告)号：EP1370585A2

公开(公告)日：2003-12-17

申请号：EP02712956.8

申请日：2002-03-05

申请人： Aventis Pharma S.A. ,  The Government of the United States of America, as represented by the Secretary, Department of Health and Human Services

发明人： ROSIER-MONTUS, Marie-Françoise ,  PRADES, Catherine ,  ARNOULD-REGUIGNE, Isabelle ,  DENEFLE, Patrice ,  DEAN, Michael ,  ALLIKMETS, Rando

IPC分类号： C07K14/705 ,  C12N15/85 ,  C12N15/861 ,  C12N15/10 ,  C12N15/12 ,  C07K16/28 ,  C12Q1/68 ,  A61K48/00 ,  A61K38/16 ,  G01N33/50 ,  A61L27/38

CPC分类号： C12Q1/6876 ,  C12Q2600/156 ,  C12Q2600/158

摘要： The present invention relates to a novel human ABCC12 gene as well as the cDNAs encoding the novel short and long of ABCC12 proteins isoforms. The invention also relates to vectors and recombinant host cells comprising such nucleic acids, nucleotide probes and primers, and means for the detection of polymorphisms and mutations in the ABCC12 gene or in the corresponding proteins isoforms produced by the allelic form of the ABCC12 gene.

公开(公告)号：EP1257651A2

公开(公告)日：2002-11-20

申请号：EP00975997.8

申请日：2000-10-26

申请人： Aventis Pharma S.A.

发明人： DENEFLE, Patrice ,  ROSIER-MONTUS, Marie-Françoise ,  ARNOULD-REGUIGNE, Isabelle ,  PRADES, Catherine ,  NAUDIN, Laurent ,  LEMOINE, Cendrine ,  DUVERGER, Nicolas ,  JAYE, Michael ,  SEARFOSS, George, H., III ,  REMALEY, Alan ,  BREWER, H., Bryan ,  DEAN, Michael

IPC分类号： C12N15/52 ,  C07K14/705 ,  C12Q1/68 ,  C07K16/18 ,  C12N15/86 ,  A61K48/00

CPC分类号： C12Q1/6883 ,  A61K48/00 ,  C07K14/705 ,  C12Q2600/156 ,  C12Q2600/158

摘要： The present invention relates to nucleic acids corresponding to the various exons and introns of the ABC1 gene, which is a causal gene for pathologies linked to a cholesterol metabolism dysfunction inducing diseases such as atherosclerosis, more particularly disruption in the reverse transport of cholesterol, and more particularly familial HDL deficiencies (FHD), such as Tangier disease. The present invention also relates to ABC1 cDNAs encoding the novel full length ABC1 protein. The invention also relates to means for the detection of polymorphisms in general, and of mutations in particular, in the ABC1 gene or in the corresponding protein produced by the allelic form of the ABC1 gene.

公开(公告)号：EP1385884A2

公开(公告)日：2004-02-04

申请号：EP02732521.6

申请日：2002-03-05

申请人： Aventis Pharma S.A. ,  THE GOVERNMENT OF THE UNITED STATES OF AMERICA as represented by THE SECRETARY of the DEPARTMENT OF HEALTH AND HUMAN SERVICES

发明人： ROSIER-MONTUS, Marie ,  PRADES, Catherine ,  ARNOULD-REGUIGNE, Isabelle ,  DEAN, Michael ,  ALLIKMETS, Rando ,  DENEFLE, Patrice

IPC分类号： C07K14/705 ,  C12Q1/68 ,  C12N15/63 ,  C12N15/10 ,  C07K16/28 ,  A61K48/00 ,  A61K39/00 ,  G01N33/68 ,  G01N33/53

CPC分类号： C12Q1/6883 ,  A61K38/00 ,  A61K48/00 ,  C07K14/705 ,  C07K16/28 ,  C12N2799/021 ,  C12Q2600/156 ,  C12Q2600/158 ,  G01N33/68

摘要： The present invention relates to nucleic acids corresponding to various exons of the ABCC11 gene as well as the cDNA encoding the novel full length of ABCC11 protein. The invention also relates to means for the detection of polymorphisms in general, and of mutations in particular, in the ABCC11 gene or in the corresponding protein produced by the allelic form of the ABCC11 gene.

公开(公告)号：EP1356102A2

公开(公告)日：2003-10-29

申请号：EP01978530.2

申请日：2001-10-12

申请人： Aventis Pharma S.A. ,  INSTITUT NATIONAL DE LA SANTE ET DE LARECHERCHE MEDICALE (INSERM)

发明人： DENEFLE, Patrice ,  ROSIER, Marie-Françoise ,  ARNOULD-REGUIGNE, Isabelle ,  DUVERGER, Nicolas ,  CAMBIEN, François

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6883 ,  C12Q2600/156

摘要： The invention concerns isolated nucleic acids coding for the ABCA1 carrier protein and comprising sequence polymorphic variations, and polypeptides derived from the human ABCA1 carrier and containing polymorphic amino acids. The invention also concerns allele-specific primers and probes hybridising to regions flanking or containing said polymorphic sites or positions, methods and kits or sets for analysing the allelism variations affecting the ABCA1 gene and finally the use of polymorphisms of the human ABCA1 gene for diagnosing a disease or a predisposition to a disease, in particular related to the concentration of plasmatic cholesterol High Density Lipoprotein (HDL), as for example is the case in familial HDL deficiencies such as Tangier disease, myocardial infarction, atherosclerosis, and other cardiovascular diseases.

公开(公告)号：EP1334186A2

公开(公告)日：2003-08-13

申请号：EP01978557.5

申请日：2001-10-17

申请人： Aventis Pharma S.A. ,  INSTITUT NATIONAL DE LA SANTE ET DE LARECHERCHE MEDICALE (INSERM)

发明人： DENEFLE, Patrice ,  ROSIER, Marie-Françoise ,  PRADES, Catherine ,  ARNOULD-REGUIGNE, Isabelle ,  OSORIO Y FORTEA, José ,  DUVERGER, Nicolas ,  CHIMINI, Giovanna

IPC分类号： C12N15/00 ,  C07K14/705

CPC分类号： C07K14/705 ,  A01K2217/05 ,  C12N15/85 ,  C12N2830/00 ,  C12N2830/85

摘要： The invention concerns a nucleic acid capable of regulating the ABCA7 gene transcription, which codes for a carrier protein capable of intervening in the metabolism of lipids and/or in the process involving the immune system and inflammation. In addition, owing to the position of the gene on the chromosome 19 in q 13, ABCA7 is potentially involved in other pathologies genetically related to said locus. The invention also concerns nucleotide constructs comprising a polynucleotide coding for a polypeptide or a nucleic acid of interest, placed under the control of a nucleic acid regulating the ABCA7 gene. The invention further concerns recombinant vectors, transformed host cells and non-human transgenic mammals comprising a nucleic acid regulating the ABCA7 gene transcription and or said nucleotide construct, and methods for screening molecules or substances capable of modulating the activity of the nucleic acid regulating the ABCA7 gene.

摘要翻译： 本发明涉及能够调节ABCA7基因转录的核酸，其编码能够介入脂质代谢和/或涉及免疫系统和炎症的过程中的载体蛋白。 此外，由于q13染色体19上的基因位置，ABCA7潜在地涉及与所述基因座遗传相关的其他病理学。 本发明还涉及包含编码目标多肽或编码核酸的多核苷酸的核苷酸构建体，其置于调节ABCA7基因的核酸的控制下。 本发明还涉及包含调节ABCA7基因转录的核酸和/或所述核苷酸构建体的重组载体，转化的宿主细胞和非人转基因哺乳动物，以及用于筛选能调节调节ABCA7的核酸的活性的分子或物质的方法 基因。