Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
Explore this paper's citation graph
Summary
Two Tangier disease families are identified, confirmed 9q31 linkage and the disease locus is refined to a limited genomic region containing the gene encoding the ATP-binding cassette transporter (ABC1), indicating that TD and FHA are allelic.
- Type
- article
- Published
- 1999-08-01
- Cited by
- 1,770
- References
- 53
- OpenAlex
- https://openalex.org/W1860908381
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:1497231
Keywords
Tangier disease, Locus (genetics), Biology, Genetics, Gene
References
- Biochemical and molecular characterization.
- Automated DNA sequencing and analysis.
- Polymorphism in the promoter region of the apolipoprotein AI gene associated with differences in apolipoprotein AI levels: The European Atherosclerosis Research Study
- Faster sequential genetic linkage computations.
- Information retrieval from biological databases.
- Sequence alignment and database searching.
- Construction of human linkage maps: Likelihood calculations for multilocus linkage analysis
- Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome
- The Framingham study.
- Familial Lipoprotein Disorders in Patients With Premature Coronary Artery Disease
- HDL-mediated efflux of intracellular cholesterol is impaired in fibroblasts from Tangier disease patients.
- Homozygous Tangier disease and cardiovascular disease.
- A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis
- A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
- Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier Disease.
- Strategies for multilocus linkage analysis in humans.
- Evolution of ATP-binding cassette transporter genes.
- BCM Search Launcher--an integrated interface to molecular biology data base search and analysis services available on the World Wide Web.
- Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
- Incidence of coronary heart disease and lipoprotein cholesterol levels. The Framingham Study.
Cited by
- Lipid Traffic: The ABC of Transbilayer Movement
- Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease.
- Membrane Topology of the ATP Binding Cassette Transporter ABCR and Its Relationship to ABC1 and Related ABCA Transporters
- The Central Helices of ApoA-I Can Promote ATP-binding Cassette Transporter A1 (ABCA1)-mediated Lipid Efflux
- Hugh sinclair lecture: the regulation and remodelling of HDL by plasma factors.
- Expression, regulation, and activity of ABCA1 in human cell lines.
- Lipoprotein disorders and cardiovascular risk
- Signal transduction by HDL: agonists, receptors, and signaling cascades.
- Molecular and cell biology of phosphatidylserine and phosphatidylethanolamine metabolism.
- LuXuRies of lipid homeostasis: the unity of nuclear hormone receptors, transcription regulation, and cholesterol sensing.
- Apolipoprotein A-I-stimulated Apolipoprotein E Secretion from Human Macrophages Is Independent of Cholesterol Efflux*
- Complex Trait Locus Linkage Mapping in Atherosclerosis: Time to Take a Step Back Before Moving Forward?
- Glucocorticoid Receptor Regulates ATP-Binding Cassette Transporter-A1 Expression and Apolipoprotein-Mediated Cholesterol Efflux From Macrophages
- Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis.
- Apolipoprotein A-I but not high-density lipoproteins are internalised by RAW macrophages: roles of ATP-binding cassette transporter A1 and scavenger receptor BI
- HDL, ABC transporters, and cholesterol efflux: implications for the treatment of atherosclerosis.
- ATP-binding cassette transporter G4 is highly expressed in microglia in Alzheimer's brain.
- ATP-Binding Cassette Proteins Involved in Glucose and Lipid Homeostasis
- Liver ABCA1 Deletion in LDLrKO Mice Does Not Impair Macrophage Reverse Cholesterol Transport or Exacerbate Atherogenesis
- Effect of Oxidative Stress on the Status of Adhesion Molecules, Nuclear Receptors and Cholesterol Flux in Endothelial Cells: Priming of Monocytes
Related papers
- The antimorphic nature of the Tc allele at the mouse T locus.
- Effects of milk protein loci on content of their proteins
- Revision of the estimates of glutenin gene effects at the Glu-B1 locus from southern Australian wheat breeding programs
- Two New Alleles at the sm1 Locus in Cotton1
- Identification of Multiple Alleles at the Wx Locus and Development of Single Segment Substitution Lines in Rice
- The structure of a variant allele which is considered to be 30.3 in the STR locus D21S11.