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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2005-1-31
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pubmed:abstractText |
Loss-of-function mutations of the ATP-binding cassette transporter A1 (ABCA1) gene cause Tangier disease, a rare genetic disorder with accumulation of lipid-laden macrophages and increased risk of atherosclerosis. Common variants of this gene may be a genetic factor for atherosclerosis in the general population. This study was performed to test the reported association between the -565C>T polymorphism and atherosclerosis severity and to investigate whether this variant per se had an effect on promoter activity of the ABCA1 gene.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1524-4636
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
25
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
418-23
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:15528481-ATP-Binding Cassette Transporters,
pubmed-meshheading:15528481-Aged,
pubmed-meshheading:15528481-Alleles,
pubmed-meshheading:15528481-Cells, Cultured,
pubmed-meshheading:15528481-Cohort Studies,
pubmed-meshheading:15528481-Comorbidity,
pubmed-meshheading:15528481-Coronary Artery Disease,
pubmed-meshheading:15528481-Diabetes Mellitus, Type 2,
pubmed-meshheading:15528481-Endarterectomy,
pubmed-meshheading:15528481-Female,
pubmed-meshheading:15528481-Gene Expression Regulation,
pubmed-meshheading:15528481-Genes, Reporter,
pubmed-meshheading:15528481-Genetic Predisposition to Disease,
pubmed-meshheading:15528481-Genetic Testing,
pubmed-meshheading:15528481-Genotype,
pubmed-meshheading:15528481-Humans,
pubmed-meshheading:15528481-Hyperlipidemias,
pubmed-meshheading:15528481-Macrophages,
pubmed-meshheading:15528481-Male,
pubmed-meshheading:15528481-Middle Aged,
pubmed-meshheading:15528481-Nuclear Proteins,
pubmed-meshheading:15528481-Polymorphism, Genetic,
pubmed-meshheading:15528481-Promoter Regions, Genetic,
pubmed-meshheading:15528481-Protein Binding,
pubmed-meshheading:15528481-Recombinant Fusion Proteins,
pubmed-meshheading:15528481-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:15528481-Risk Factors,
pubmed-meshheading:15528481-Smoking,
pubmed-meshheading:15528481-Transfection
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pubmed:year |
2005
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pubmed:articleTitle |
Genotypic effect of the -565C>T polymorphism in the ABCA1 gene promoter on ABCA1 expression and severity of atherosclerosis.
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pubmed:affiliation |
Human Genetics Division, School of Medicine, University of Southampton, Southampton, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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