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.
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.
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.
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:
The invention concerns novel compounds and their uses, in particular pharmaceutical, diagnostic or as pharmacological targets. More particularly, the invention concerns a novel protein, called PAP1, and novel peptides and compounds capable of modulating at least partially parkin gene activity.
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.
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.
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.
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.