« Previous
Next »
Journal of Clinical Lipidology
Volume 4, Issue 5
, Pages 420-426
, September 2010
Complete Apo AI Deficiency in an Iraqi Mandaean Family: Case studies and review of the literature
References
- Inherited disorders of HDL metabolism and atherosclerosis. Curr Opin Lipidol. 2005;16:139–415
- . Plasma apolipoprotein A-1 absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease. Arteriosclerosis. 1982;2:16–26
- Familial deficiency of apolipoproteins A-I and C-III and precocious coronary-artery disease. N Engl J Med. 1982;306:1513–1519
- . A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities. J Clin Invest. 1991;87:371–376
- Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene. Proc Natl Acad Sci U S A. 1991;88:2793–2797
- . High density lipoprotein deficiency with xanthomas. A defect in reverse cholesterol transport caused by a point mutation in the apolipoprotein A-I gene. J Clin Invest. 1993;92:2262–2273
- . Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia. J Clin Invest. 1994;93:223–229
- . A nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and periorbital xanthelasmas. Arterioscler Thromb. 1994;14:1915–1922
- A new case of apoA-I deficiency showing codon 8 nonsense mutation of the apoA-I gene without evidence of coronary heart disease. Arterioscler Thromb Vasc Biol. 1995;15:1866–1874
- Compound heterozygosity for a structural apolipoprotein A-I variant, apo A-I(L141R)Pisa, and an apolipoprotein A-I null allele in patients with absence of HDL cholesterol, corneal opacifications, and coronary heart disease. Circulation. 1996;94:1622–1628
- A cysteine-containing truncated apo A-I variant associated with HDL deficiency. Arterioscler Thromb Vasc Biol. 1996;16:1416–1423
- A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency. Arterioscler Thromb Vasc Biol. 1998;18:389–396
- Compound heterozygosity for an apolipoprotein A1 gene promoter mutation and a structural nonsense mutation with apolipoprotein A1 deficiency. Arterioscler Thromb Vasc Biol. 1999;19:348–355
- Apolipoprotein A-I deficiency with accumulated risk for CHD but no symptoms of CHD. Atherosclerosis. 2002;162:399–407
- Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency. Atherosclerosis. 2003;167:335–345
- A novel two nucleotide deletion in the apolipoprotein A-I gene, apoA-I Shinbashi, associated with high density lipoprotein deficiency, corneal opacities, planar xanthomas, and premature coronary artery disease. Atherosclerosis. 2004;172:39–45
- Characterization of high density lipoprotein particles in familial apolipoprotein A-I deficiency. J Lipid Res. 2008;49:349–357
- Increased atherosclerosis in mice lacking apolipoprotein A-I attributable to both impaired reverse cholesterol transport and increased inflammation. Circ Res. 2005;97:763–771
- . Cyclosporine A and Rapamycin induce in vitro cholesteryl ester transfer protein activity, and suppress lipoprotein lipase activity in human plasma. Int J Pharmacol. 2008;358:219–223
- Human cholesteryl ester transfer protein measured by enzyme-linked immunosorbent assay with two monoclonal antibodies against rabbit cholesteryl ester transfer protein: plasma cholesteryl ester transfer protein and lipoproteins among Japanese hypercholesterolemic patients. Clin Chem. 1998;44:1466–1473
- . Measurement of fractional esterification rate of cholesterol in plasma depleted of apoprotein B containing lipoprotein: methods and normal values. Physiol Res. 1996;45:65–73
- . Separation of lymphocytes, granulocytes, and monocytes from human blood using iodinated density gradient media. Methods Enzymol. 1984;108:88–102
- . ABC1, an ATP binding cassette transporter required for phagocytosis of apoptotic cells, generates a regulated anion flux after expression in Xenopus laevis oocytes. J Biol Chem. 1997;272:2695–2699
- Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages. Biochem Biophys Res Commun. 1999;257:29–33
- . Regulation of serum-induced lipid accumulation in human monocyte-derived macrophages by interferon-gamma. Correlations with apolipoprotein E production, lipoprotein lipase activity and LDL receptor-related protein expression. Atherosclerosis. 1997;128:47–58
- . The prognostic importance of endothelial dysfunction and carotid atheroma burden in patients with coronary artery disease. J Am Coll Cardiol. 2003;42:1037–1043
- Oxidative stress and inflammation in pregnancy. Scand J Clin Lab Invest. 2006;66:121–127
- . High density lipoproteins and arteriosclerosis. Role of cholesterol efflux and reverse cholesterol transport. Arterioscler Thromb Vasc Biol. 2001;21:13–27
- . Recombinant apolipoprotein A-IMilano for the treatment of cardiovascular diseases. Curr Atheroscler Rep. 2006;8:163–167
- . HDL deficiency in genetically engineered mice requires elevated LDL to accelerate atherogenesis. Arterioscler Thromb Vasc Biol. 1997;17:1725–1729
- . ApoA-I deficiency causes both hypertriglyceridemia and increased atherosclerosis in human apoB transgenic mice. J Lipid Res. 1998;39:313–321
- Treating to New Targets Investigators. HDL cholesterol, very low levels of LDL cholesterol, and cardiovascular events. N Engl J Med. 2007;357:1301–1310
- A novel apoA-I mutation (L178P) leads to endothelial dysfunction, increased arterial wall thickness, and premature coronary artery disease. J Am Coll Cardiol. 2004;44:1429–1435
PII: S1933-2874(10)00223-0
doi: 10.1016/j.jacl.2010.05.001
« Previous
Next »
Journal of Clinical Lipidology
Volume 4, Issue 5
, Pages 420-426
, September 2010
