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：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：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：EP1280911A2

公开(公告)日：2003-02-05

申请号：EP01943361.4

申请日：2001-05-02

申请人： Aventis Pharma S.A.

发明人： ROSIER-MONTUS, Marie-Françoise ,  PRADES, Catherine ,  LEMOINE, Cendrine ,  NAUDIN, Laurent ,  DENEFLE, Patrice ,  BREWER, Bryan ,  DUVERGER, Nicolas ,  REMALEY, Alan ,  SANTAMARINA-FOJO, Silvia

IPC分类号： C12N15/12 ,  C12N15/11 ,  C12N15/62 ,  C07K14/705 ,  C12Q1/68 ,  A61K31/7088 ,  A01K67/027

CPC分类号： C07K14/705 ,  A01K2217/05 ,  A61K38/00 ,  G01N2500/10

摘要： The present invention concerns a nucleic acid which is capable of regulating the transcription of the ABC1 gene, which is a causal gene for pathologies linked to a dysfunctioning of cholesterol metabolism, inducing diseases such as atherosclerosis. The invention also relates to nucleotide constructs comprising a polynucleotide which encodes a polypeptide or a nucleic acid of interest, placed under the control a regulatory nucleic acid for the ABC1 gene. The invention also relates to recombinant vectors, transformed host cells and nonhuman transgenic mammals comprising a nucleic acid which regulates the transcription of the ABC1 gene or an abovementioned nucleotide construct, as well as methods for screening molecules or substances which are capable of modifying the activity of the regulatory nucleic acid for the ABC1 gene.

摘要翻译： 本发明涉及一种能够调节ABC1基因转录的核酸，该ABC1基因是与胆固醇代谢功能紊乱相关的病理学的致病基因，诱导诸如动脉粥样硬化的疾病。 本发明还涉及包含编码感兴趣的多肽或感兴趣的核酸的多核苷酸的核苷酸构建体，其置于控制下用于ABC1基因的调节核酸。 本发明还涉及包含调节ABC1基因或上述核苷酸构建体的转录的核酸的重组载体，转化的宿主细胞和非人类转基因哺乳动物，以及用于筛选能够改变活性的分子或物质的方法 ABC1基因的调控核酸。