-
1
-
-
0036738377
-
Quantitative trait loci and candidate genes regulating HDL cholesterol: A murine chromosome map
-
Wang X, Paigen B. Quantitative trait loci and candidate genes regulating HDL cholesterol: a murine chromosome map. Arterioscler Thromb Vasc Biol 2002; 22:1390-1401. A useful summarization of the 27 mouse and 22 human quantitative trait loci for HDL-cholesterol and their comparable homologous regions.
-
(2002)
Arterioscler Thromb Vasc Biol
, vol.22
, pp. 1390-1401
-
-
Wang, X.1
Paigen, B.2
-
2
-
-
0032698369
-
ABC1: Connecting yellow tonsils, neuropathy, and very low HDL
-
Hobbs HH, Rader DJ. ABC1: connecting yellow tonsils, neuropathy, and very low HDL. J Clin Invest 1999; 104:1015-1017.
-
(1999)
J Clin Invest
, vol.104
, pp. 1015-1017
-
-
Hobbs, H.H.1
Rader, D.J.2
-
3
-
-
0032952923
-
Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency
-
Marcil M, Yu L, Krimbou L, et al. Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency. Arterioscler Thromb Vasc Biol 1999; 19:159-169.
-
(1999)
Arterioscler Thromb Vasc Biol
, vol.19
, pp. 159-169
-
-
Marcil, M.1
Yu, L.2
Krimbou, L.3
-
4
-
-
0036846003
-
Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol
-
Wellington CL, Yang YZ, Zhou S, et al. Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol. J Lipid Res 2002; 43:1939-1949. ABCA1 expression was assessed in human fibroblasts harvested from subjects with and without truncated mutations. Truncated mutations blunted protein expression of the full-length ABCA1 allele and suppressed upregulation by oxysterols.
-
(2002)
J Lipid Res
, vol.43
, pp. 1939-1949
-
-
Wellington, C.L.1
Yang, Y.Z.2
Zhou, S.3
-
5
-
-
0037298521
-
ATP-binding cassette transporter A1 locus is not a major determinant of HDL-cholesterol levels in a population at high risk for coronary heart disease
-
Kakko S, Kelloniemi J, von Rohr P, et al. ATP-binding cassette transporter A1 locus is not a major determinant of HDL-cholesterol levels in a population at high risk for coronary heart disease. Atherosclerosis 2003; 166:285-290. Subjects with low HDL-cholesterol and premature CHD (n = 35) were screened for ABCA1 mutations and family studies evaluated whether the ABCA1 locus segregated with low HDL. In addition, the prevalence of common ABCA1 polymorphisms was studied in a Finnish sample (n = 515). No linkage was identified between ABCA1 and HDL-cholesterol and one of the five mutations screened for were found in this high-risk group. None of the ABCA1 polymorphisms was significantly associated with HDL.
-
(2003)
Atherosclerosis
, vol.166
, pp. 285-290
-
-
Kakko, S.1
Kelloniemi, J.2
Von Rohr, P.3
-
6
-
-
0033816960
-
Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: Role of the ABCA1 gene mutations
-
Mott S, Yu L, Marcil M, et al. Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations. Atherosclerosis 2000; 152:457-468.
-
(2000)
Atherosclerosis
, vol.152
, pp. 457-468
-
-
Mott, S.1
Yu, L.2
Marcil, M.3
-
7
-
-
0035205221
-
Pivotal role of ABCA1 in reverse cholesterol transport influencing HDL levels and susceptibility to atherosclerosis
-
Attie AD, Kastelein JP, Hayden MR. Pivotal role of ABCA1 in reverse cholesterol transport influencing HDL levels and susceptibility to atherosclerosis. J Lipid Res 2001; 42:1717-1726.
-
(2001)
J Lipid Res
, vol.42
, pp. 1717-1726
-
-
Attie, A.D.1
Kastelein, J.P.2
Hayden, M.R.3
-
8
-
-
0036827972
-
Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T
-
Hong SH, Riley W, Rhyne J, et al. Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T. Clin Chem 2002; 48:2066-2070. Previous data have suggested that ABCA1 variants causing low HDL is also associated with increased carotid intima-media thickness. In the present study, carotid intima medial thickness was not increased compared to age controlled subjects despite low HDL levels caused by a novel ABCA1 variant.
-
(2002)
Clin Chem
, vol.48
, pp. 2066-2070
-
-
Hong, S.H.1
Riley, W.2
Rhyne, J.3
-
9
-
-
0037150282
-
Novel ABCA1 compound variant associated with HDL cholesterol deficiency
-
Ho Hong S, Rhyne J, Zeller K, Miller M. Novel ABCA1 compound variant associated with HDL cholesterol deficiency. Biochim Biophys Acta 2002; 21:60-64. Two novel mutations in ABCA1 (D1099Y, F2009F) were identified in a family from Kansas. The proband died of complications of cerebral amyloid angiopathy. Despite low HDL, there was no history of premature CHD.
-
(2002)
Biochim Biophys Acta
, vol.21
, pp. 60-64
-
-
Ho Hong, S.1
Rhyne, J.2
Zeller, K.3
Miller, M.4
-
10
-
-
12244255799
-
ABCA1 modulates CSF cholesterol levels and influences the age at onset of Alzheimer's disease
-
Wollmer MA, Streffer JR, Lutjohann D, et al. ABCA1 modulates CSF cholesterol levels and influences the age at onset of Alzheimer's disease. Neurobiol Aging 2003; 24:421-426. Carriers of R219K in ABCA1 were found to have reduced TC (33%) in cerebrospinal fluid and delayed onset of Alzheimer's disease. In contrast, no association was found in carriers of another variant (R1587K). The authors speculate that variability in ABCA1 may impact on the pathogenesis of Alzheimer's disease.
-
(2003)
Neurobiol Aging
, vol.24
, pp. 421-426
-
-
Wollmer, M.A.1
Streffer, J.R.2
Lutjohann, D.3
-
11
-
-
0035914330
-
27-Hydroxycholesterol is an endogenous ligand for liver X receptor in cholesterol-loaded cells
-
Fu X, Menke JG, Chen Y, et al. 27-Hydroxycholesterol is an endogenous ligand for liver X receptor in cholesterol-loaded cells. J Biol Chem 2001; 276:38378-38387.
-
(2001)
J Biol Chem
, vol.276
, pp. 38378-38387
-
-
Fu, X.1
Menke, J.G.2
Chen, Y.3
-
12
-
-
18544377194
-
A potent synthetic LXR agonist is more effective than cholesterol loading at inducing ABCA1 mRNA and stimulating cholesterol efflux
-
Sparrow CP, Baffic J, Lam MH, et al. A potent synthetic LXR agonist is more effective than cholesterol loading at inducing ABCA1 mRNA and stimulating cholesterol efflux. J Biol Chem 2002; 277:10021-10027. Previous studies have demonstrated that in response to cholesterol loading, oxysterols stimulate the nuclear receptors LXR and LXR and upregulate ABCA1 expression. Using a synthetic agonist for LXR, acetyl-podocarpic acid was found to be significantly more potent in stimulating cholesterol and phospholipid efflux than other LXR agonists (e.g. 22-hydroxycholesterol) and may represent a novel agent for the treatment of CHD.
-
(2002)
J Biol Chem
, vol.277
, pp. 10021-10027
-
-
Sparrow, C.P.1
Baffic, J.2
Lam, M.H.3
-
13
-
-
0034669025
-
Regulation of mouse sterol regulatory element-binding protein-1c gene (SREBP-1c) by oxysterel receptors, LXRalpha and LXRbeta
-
Repa JJ, Liang G, Ou J, et al. Regulation of mouse sterol regulatory element-binding protein-1c gene (SREBP-1c) by oxysterel receptors, LXRalpha and LXRbeta. Genes Dev 2000; 14:2819-2830.
-
(2000)
Genes Dev
, vol.14
, pp. 2819-2830
-
-
Repa, J.J.1
Liang, G.2
Ou, J.3
-
14
-
-
0035138625
-
PPAR-alpha and PPAR-gamma activators induce cholesterol removal from human macrophage foam cells through stimulation of the ABCA1 pathway
-
Chinetti G, Lestavel S, Bocher V, et al. PPAR-alpha and PPAR-gamma activators induce cholesterol removal from human macrophage foam cells through stimulation of the ABCA1 pathway. Nat Med 2001; 7:53-58.
-
(2001)
Nat Med
, vol.7
, pp. 53-58
-
-
Chinetti, G.1
Lestavel, S.2
Bocher, V.3
-
15
-
-
0028011096
-
Familial lipoprotein disorders and premature coronary artery disease
-
Schaefer EJ. Familial lipoprotein disorders and premature coronary artery disease. Med Clin North Am 1994; 78:21-39.
-
(1994)
Med Clin North Am
, vol.78
, pp. 21-39
-
-
Schaefer, E.J.1
-
16
-
-
0036241082
-
Apolipoprotein A-l deficiency with accumulated risk for CHD but no symptoms of CHD
-
Yokota H, Hashimoto Y, Okubo S, et al. Apolipoprotein A-l deficiency with accumulated risk for CHD but no symptoms of CHD. Atherosclerosis 2002; 162:399-407. This paper describes a 69-year-old woman with apoA-I deficiency resulting from a homozygous base-pair deletion (codon 184) and predicted protein truncation at amino acid 199. Despite markedly reduced HDL (<0.18 mmol/l) and mild elevation in apo B (119 mg/dl) there was no history of symptomatic CHD.
-
(2002)
Atherosclerosis
, vol.162
, pp. 399-407
-
-
Yokota, H.1
Hashimoto, Y.2
Okubo, S.3
-
17
-
-
0031815712
-
Apolipoprotein A-l(Zavalla) (Leu159→Pro): HDL cholesterol deficiency in a kindred associated with premature coronary artery disease
-
Miller M, Aiello D, Pritchard H, et al. Apolipoprotein A-l(Zavalla) (Leu159→Pro): HDL cholesterol deficiency in a kindred associated with premature coronary artery disease. Arterioscler Thromb Vasc Biol 1998; 18:1242-1247.
-
(1998)
Arterioscler Thromb Vasc Biol
, vol.18
, pp. 1242-1247
-
-
Miller, M.1
Aiello, D.2
Pritchard, H.3
-
18
-
-
0035957282
-
Cholesterol mobilization by free and lipid-bound apoAl(Milano) and apoAl(Milano)-apoAll heterodimers
-
Wang WQ, Moses AS, Francis GA. Cholesterol mobilization by free and lipid-bound apoAl(Milano) and apoAl(Milano)-apoAll heterodimers. Biochemistry 2001; 40:3666-3673.
-
(2001)
Biochemistry
, vol.40
, pp. 3666-3673
-
-
Wang, W.Q.1
Moses, A.S.2
Francis, G.A.3
-
19
-
-
0035901577
-
Cardiovascular status of carriers of the apolipoprotein A-l(Milano) mutant: The Limone sul Garda study
-
Sirtori CR, Calabresi L, Franceschini G, et al. Cardiovascular status of carriers of the apolipoprotein A-l(Milano) mutant: the Limone sul Garda study. Circulation 2001; 103:1949-1954.
-
(2001)
Circulation
, vol.103
, pp. 1949-1954
-
-
Sirtori, C.R.1
Calabresi, L.2
Franceschini, G.3
-
20
-
-
0037065730
-
Apolipoprotein A-l(Milano) and apolipoprotein A-l(Paris) exhibit an antioxidant activity distinct from that of wild-type apolipoprotein A-l
-
Paris.
-
(2002)
Biochemistry
, vol.41
, pp. 2089-2096
-
-
Bielicki, J.K.1
Oda, M.N.2
-
21
-
-
0031748864
-
Regulation of apo A-l gene expression by fibrates
-
Staels B, Auwerx J. Regulation of apo A-l gene expression by fibrates. Atherosclerosis 1998; 137:S19-S23.
-
(1998)
Atherosclerosis
, vol.137
-
-
Staels, B.1
Auwerx, J.2
-
23
-
-
0025172876
-
G to A substitution in the promoter region of the apolipoprotein Al gene is associated with elevated serum apolipoprotein Al and high density lipoprotein cholesterol concentrations
-
Jeenah M, Kessling A, Miller N, Humphries S. G to A substitution in the promoter region of the apolipoprotein Al gene is associated with elevated serum apolipoprotein Al and high density lipoprotein cholesterol concentrations. Mol Biol Med 1990; 7:233-241.
-
(1990)
Mol Biol Med
, vol.7
, pp. 233-241
-
-
Jeenah, M.1
Kessling, A.2
Miller, N.3
Humphries, S.4
-
24
-
-
0026638776
-
Polymorphism in the human apolipoprotein A-l gene promoter region: Association of the minor allele with decreased production rate in vivo and promoter activity in vitro
-
Smith JD, Brinton EA, Breslow JL. Polymorphism in the human apolipoprotein A-l gene promoter region: association of the minor allele with decreased production rate in vivo and promoter activity in vitro. J Clin Invest 1992; 89:1796-1800.
-
(1992)
J Clin Invest
, vol.89
, pp. 1796-1800
-
-
Smith, J.D.1
Brinton, E.A.2
Breslow, J.L.3
-
25
-
-
17144445460
-
Human apolipoprotein A-l gene promoter mutation influences plasma low density lipoprotein cholesterol response to dietary fat saturation
-
Mata P, Lopez-Miranda J, Pooovi M, et al. Human apolipoprotein A-l gene promoter mutation influences plasma low density lipoprotein cholesterol response to dietary fat saturation. Atherosclerosis 1998; 137:367-376.
-
(1998)
Atherosclerosis
, vol.137
, pp. 367-376
-
-
Mata, P.1
Lopez-Miranda, J.2
Pocovi, M.3
-
26
-
-
0036070680
-
Effects of the human apolipoprotein A-l promoter G-A mutation on postprandial lipoprotein metabolism
-
Marin C, Lopez-Miranda J, Gomez P, et al. Effects of the human apolipoprotein A-l promoter G-A mutation on postprandial lipoprotein metabolism. Am J Clin Nutr 2002; 76:319-325.
-
(2002)
Am J Clin Nutr
, vol.76
, pp. 319-325
-
-
Marin, C.1
Lopez-Miranda, J.2
Gomez, P.3
-
27
-
-
0030933460
-
The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes
-
Kuivenhoven JA, Pritchard H, Hill J, et al. The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes. J Lipid Res 1997; 38:191-205.
-
(1997)
J Lipid Res
, vol.38
, pp. 191-205
-
-
Kuivenhoven, J.A.1
Pritchard, H.2
Hill, J.3
-
28
-
-
0035004674
-
A novel TC deletion resulting in Pro(260)→Stop in the human LCAT gene is associated with a dominant effect on HDL-cholesterol
-
Kasid A, Rhyne J, Zeller K, et al. A novel TC deletion resulting in Pro(260)→Stop in the human LCAT gene is associated with a dominant effect on HDL-cholesterol. Atherosclerosis 2001; 156:127-132.
-
(2001)
Atherosclerosis
, vol.156
, pp. 127-132
-
-
Kasid, A.1
Rhyne, J.2
Zeller, K.3
-
29
-
-
0033027795
-
A first British case of fish-eye disease presenting at age 75 years: A double heterozygote for defined and new mutations affecting LCAT structure and expression
-
Winder AF, Owen JS, Pritchard PH, et al. A first British case of fish-eye disease presenting at age 75 years: a double heterozygote for defined and new mutations affecting LCAT structure and expression. J Clin Pathol 1999; 52:228-230.
-
(1999)
J Clin Pathol
, vol.52
, pp. 228-230
-
-
Winder, A.F.1
Owen, J.S.2
Pritchard, P.H.3
-
30
-
-
0027275449
-
Plasma cholesteryl ester transfer protein
-
Tall AR. Plasma cholesteryl ester transfer protein. J Lipid Res 1993; 34:1255-1274.
-
(1993)
J Lipid Res
, vol.34
, pp. 1255-1274
-
-
Tall, A.R.1
-
31
-
-
0033854319
-
Cholesteryl ester transfer protein and atherosclerosis
-
Inazu A, Koizumi J, Mabuchi H. Cholesteryl ester transfer protein and atherosclerosis. Curr Opin Lipidol 2000; 11:389-396.
-
(2000)
Curr Opin Lipidol
, vol.11
, pp. 389-396
-
-
Inazu, A.1
Koizumi, J.2
Mabuchi, H.3
-
32
-
-
0029948968
-
Increased coronary heart disease in Japanese-American men with mutation in the cholesteryl ester transfer protein gene despite increased HDL levels
-
Zhong S, Sharp DS, Grove JS, et al. Increased coronary heart disease in Japanese-American men with mutation in the cholesteryl ester transfer protein gene despite increased HDL levels. J Clin Invest 1996; 97:2917-2923.
-
(1996)
J Clin Invest
, vol.97
, pp. 2917-2923
-
-
Zhong, S.1
Sharp, D.S.2
Grove, J.S.3
-
33
-
-
17444448251
-
A low prevalence of coronary heart disease among subjects with increased high-density lipoprotein cholesterel levels, including those with plasma cholesteryl ester transfer protein deficiency
-
Moriyama Y, Okamura T, Inazu A, et al. A low prevalence of coronary heart disease among subjects with increased high-density lipoprotein cholesterel levels, including those with plasma cholesteryl ester transfer protein deficiency. Prev Med 1998; 27:659-667.
-
(1998)
Prev Med
, vol.27
, pp. 659-667
-
-
Moriyama, Y.1
Okamura, T.2
Inazu, A.3
-
34
-
-
0035289802
-
Roles of plasma lipid transfer proteins in reverse cholesterol transport
-
Yamashita S, Sakai N, Hirano K, et al. Roles of plasma lipid transfer proteins in reverse cholesterol transport. Front Biosci 2001; 6:D366-D387.
-
(2001)
Front Biosci
, vol.6
-
-
Yamashita, S.1
Sakai, N.2
Hirano, K.3
-
35
-
-
0024415898
-
Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipopreteins
-
Brown ML, Inazu A, Hesler CB, et al. Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipopreteins. Nature 1989; 342:448-451.
-
(1989)
Nature
, vol.342
, pp. 448-451
-
-
Brown, M.L.1
Inazu, A.2
Hesler, C.B.3
-
36
-
-
0029948968
-
Increased coronary heart disease in Japanese-American men with mutations in the cholesteryl ester transfer protein despite increased HDL levels
-
Zhong S, Sharp DS, Grove JS, et al. Increased coronary heart disease in Japanese-American men with mutations in the cholesteryl ester transfer protein despite increased HDL levels. J Clin Invest 1996; 97:2917-2923.
-
(1996)
J Clin Invest
, vol.97
, pp. 2917-2923
-
-
Zhong, S.1
Sharp, D.S.2
Grove, J.S.3
-
37
-
-
0037327033
-
Cholesteryl ester transfer protein: A novel target for raising HDL and inhibiting atherosclerosis
-
Barter PJ, Brewer HB Jr, Chapman MJ, et al. Cholesteryl ester transfer protein: a novel target for raising HDL and inhibiting atherosclerosis. Arterioscler Thromb Vasc Biol 2003; 23:160-167. A review article regarding CETP in animals and humans, and its confounding role in atherosclerosis.
-
(2003)
Arterioscler Thromb Vasc Biol
, vol.23
, pp. 160-167
-
-
Barter, P.J.1
Brewer H.B., Jr.2
Chapman, M.J.3
-
38
-
-
0037035459
-
Efficacy and safety of a novel cholesteryl ester transfer protein inhibitor, JTT-705, in humans: A randomized phase II dose-response study
-
de Grooth GJ, Kuivenhoven JA, Stalenhoef AF, et al. Efficacy and safety of a novel cholesteryl ester transfer protein inhibitor, JTT-705, in humans: a randomized phase II dose-response study. Circulation 2002; 105:2159-2165. A human clinical trial that showed by using the CETP inhibitor, JTT-705, at high doses (900 mg) HDL-cholesterol increased 34% and LDL-cholesterol decreased 7% and was without major side effects. No clinical endpoints were tested.
-
(2002)
Circulation
, vol.105
, pp. 2159-2165
-
-
De Grooth, G.J.1
Kuivenhoven, J.A.2
Stalenhoef, A.F.3
-
39
-
-
0034107017
-
Hepatic lipase deficiency decreases the selective uptake of HDL-cholesteryl esters in vivo
-
Lambert G, Amar MJA, Martin P, et al. Hepatic lipase deficiency decreases the selective uptake of HDL-cholesteryl esters in vivo. J Lipid Res 2000; 41:667-672.
-
(2000)
J Lipid Res
, vol.41
, pp. 667-672
-
-
Lambert, G.1
Amar, M.J.A.2
Martin, P.3
-
41
-
-
0025214976
-
Isolation and characterization of the human hepatic lipase gene
-
Ameis D, Stahnke G, Kobayashi J, et al. Isolation and characterization of the human hepatic lipase gene. J Biol Chem 1990; 265:6552-6555.
-
(1990)
J Biol Chem
, vol.265
, pp. 6552-6555
-
-
Ameis, D.1
Stahnke, G.2
Kobayashi, J.3
-
42
-
-
0033978594
-
The C-514 T polymorphism in the human hepatic lipase gene promoter diminishes its activity
-
Deeb SS, Peng R. The C-514 T polymorphism in the human hepatic lipase gene promoter diminishes its activity. J Lipid Res 2000; 41:155-158.
-
(2000)
J Lipid Res
, vol.41
, pp. 155-158
-
-
Deeb, S.S.1
Peng, R.2
-
43
-
-
0031929702
-
Hepatic lipase activity is lower in African American men than in white American men: Effects of 5′ flanking polymorphism in the hepatic lipase gene (LIPC)
-
Vega GL, Clark LT, Tang A, et al. Hepatic lipase activity is lower in African American men than in white American men: effects of 5′ flanking polymorphism in the hepatic lipase gene (LIPC). J Lipid Res 1998; 39:228-232.
-
(1998)
J Lipid Res
, vol.39
, pp. 228-232
-
-
Vega, G.L.1
Clark, L.T.2
Tang, A.3
-
44
-
-
0031711104
-
Three polymorphisms associated with low hepatic lipase activity are common in African Americans
-
Nie L, Niu S, Vega GL, et al. Three polymorphisms associated with low hepatic lipase activity are common in African Americans. J Lipid Res 1998; 39:1900-1903.
-
(1998)
J Lipid Res
, vol.39
, pp. 1900-1903
-
-
Nie, L.1
Niu, S.2
Vega, G.L.3
-
45
-
-
0037056085
-
Identification of genetic variants in endothelial lipase in persons with elevated high-density lipoprotein cholesterol
-
deLemos AS, Wolfe ML, Long CJ, et al. Identification of genetic variants in endothelial lipase in persons with elevated high-density lipoprotein cholesterol. Circulation. 2002; 106:1321-1326. This is the first study to assess the endothelial lipase gene for molecular variants in humans. Many polymorphic sites were identified with the focus on six potentially physiologic variants (two in promoter and four in coding regions). Several of these variants were identified with higher frequency in blacks and hyperalpha whites and may contribute to the high HDL phanotype.
-
(2002)
Circulation
, vol.106
, pp. 1321-1326
-
-
DeLemos, A.S.1
Wolfe, M.L.2
Long, C.J.3
-
46
-
-
0037314196
-
Endothelial lipase: Direct evidence for a role in HDL metabolism
-
Cohen JC. Endothelial lipase: direct evidence for a role in HDL metabolism. J Clin Invest 2003; 111:318-321.
-
(2003)
J Clin Invest
, vol.111
, pp. 318-321
-
-
Cohen, J.C.1
-
47
-
-
0030046797
-
Identification of scavenger receptor SR-BI as a high density lipoprotein receptor
-
Acton S, Rigotti A, Landschulz KT, et al. Identification of scavenger receptor SR-BI as a high density lipoprotein receptor. Science 1996; 271:518-520.
-
(1996)
Science
, vol.271
, pp. 518-520
-
-
Acton, S.1
Rigotti, A.2
Landschulz, K.T.3
-
48
-
-
0034829678
-
Scavenger receptor class B type I is a multiligand HDL receptor that influences diverse physiologic systems
-
Krieger M. Scavenger receptor class B type I is a multiligand HDL receptor that influences diverse physiologic systems. J Clin Invest 2001; 108:793-797.
-
(2001)
J Clin Invest
, vol.108
, pp. 793-797
-
-
Krieger, M.1
-
49
-
-
0030472622
-
Regulation by adrenocorticotrophic hormone of the in vivo expression of scavenger receptor class B type I (SR-BI), a high density lipoprotein receptor, in steroidogenic cells of the murine adrenal gland
-
Rigotti A, Edelman ER, Seifert P, et al. Regulation by adrenocorticotrophic hormone of the in vivo expression of scavenger receptor class B type I (SR-BI), a high density lipoprotein receptor, in steroidogenic cells of the murine adrenal gland. J Biol Chem 1996; 271:33545-33549.
-
(1996)
J Biol Chem
, vol.271
, pp. 33545-33549
-
-
Rigotti, A.1
Edelman, E.R.2
Seifert, P.3
-
50
-
-
0029830177
-
Regulation of scavenger receptor, class B, type I, a high-density lipoprotein receptor, in liver and steroidogenic tissues of the rat
-
Landschulz KT, Pathak RK, Rigotti A, et al. Regulation of scavenger receptor, class B, type I, a high-density lipoprotein receptor, in liver and steroidogenic tissues of the rat. J Clin Invest 1996; 98:984-995.
-
(1996)
J Clin Invest
, vol.98
, pp. 984-995
-
-
Landschulz, K.T.1
Pathak, R.K.2
Rigotti, A.3
-
51
-
-
0036392090
-
Testosterone up-regulates scavenger receptor BI and stimulates cholesterol efflux from macrophages
-
Langer C, Gansz B, Goepfert C, et al. Testosterone up-regulates scavenger receptor BI and stimulates cholesterol efflux from macrophages. Biochem Biophys Res Commun 2002; 296:1051-1057. A study that examined the effects of testosterone on SR-BI expression in cultured hepatocytes and macrophages. Results add testosterone to the list of hormones that can affect SR-BI expression.
-
(2002)
Biochem Biophys Res Commun
, vol.296
, pp. 1051-1057
-
-
Langer, C.1
Gansz, B.2
Goepfert, C.3
-
52
-
-
0031847228
-
Simultaneous induction of an HDL receptor protein (SR-BI) and the selective uptake of HDL-cholesteryl esters in a physiologically relevant steroidogenic cell model
-
Azhar S, Nomoto A, Leers-Sucheta S, Reaven E. Simultaneous induction of an HDL receptor protein (SR-BI) and the selective uptake of HDL-cholesteryl esters in a physiologically relevant steroidogenic cell model. J Lipid Res 1998; 39:1616-1628.
-
(1998)
J Lipid Res
, vol.39
, pp. 1616-1628
-
-
Azhar, S.1
Nomoto, A.2
Leers-Sucheta, S.3
Reaven, E.4
-
53
-
-
0034705071
-
CLA-1/SR-BI is expressed in atherosclerotic lesion macrophages and regulated by activators of peroxisome proliferator-activated receptors
-
Chinett G, Gbaguidi FG, Griglio S, et al. CLA-1/SR-BI is expressed in atherosclerotic lesion macrophages and regulated by activators of peroxisome proliferator-activated receptors. Circulation 2000; 101:2411-2417.
-
(2000)
Circulation
, vol.101
, pp. 2411-2417
-
-
Chinett, G.1
Gbaguidi, F.G.2
Griglio, S.3
-
54
-
-
0032770799
-
Polyunsaturated fatty acids up-regulate hepatic scavenger receptor BI (SR-BI) expression and HDL cholesteryl ester uptake in the hamster
-
Spady DK, Kearney DM, Hobbs HH. Polyunsaturated fatty acids up-regulate hepatic scavenger receptor BI (SR-BI) expression and HDL cholesteryl ester uptake in the hamster. J Lipid Res 1999; 40:1384-1394.
-
(1999)
J Lipid Res
, vol.40
, pp. 1384-1394
-
-
Spady, D.K.1
Kearney, D.M.2
Hobbs, H.H.3
-
55
-
-
0031453246
-
Structure and localization of the human gene encoding SR-BI/CLA-1
-
Cao G, Garcia CK, Wyne KL, et al. Structure and localization of the human gene encoding SR-BI/CLA-1. J Biol Chem 1997; 272:33068-33076.
-
(1997)
J Biol Chem
, vol.272
, pp. 33068-33076
-
-
Cao, G.1
Garcia, C.K.2
Wyne, K.L.3
-
56
-
-
0033538671
-
Expression of human scavenger receptor class B type I in cultured human monocyte-derived macrophages and atherosclerotic lesions
-
Hirano K, Yamashita S, Nakagawa Y, et al. Expression of human scavenger receptor class B type I in cultured human monocyte-derived macrophages and atherosclerotic lesions. Circ Res 1999; 85:108-116.
-
(1999)
Circ Res
, vol.85
, pp. 108-116
-
-
Hirano, K.1
Yamashita, S.2
Nakagawa, Y.3
-
57
-
-
12444267902
-
The HDL receptor protein, SR-BI/CIA1, does not mediate cholesterol efflux from human macrophage foam cells
-
Rodriguez A, Wee S-B. The HDL receptor protein, SR-BI/CIA1, does not mediate cholesterol efflux from human macrophage foam cells. Circ Suppl 1999; 100:I-538.
-
(1999)
Circ Suppl
, vol.100
-
-
Rodriguez, A.1
Wee, S.-B.2
-
58
-
-
0033032512
-
Association of polymorphisms at the SR-BI gene locus with plasma lipid levels and body mass index in a white population
-
Acton S, Osgood D, Donoghue M, et al. Association of polymorphisms at the SR-BI gene locus with plasma lipid levels and body mass index in a white population. Arterioscler Thromb Vasc Biol 1999; 19:1734-1743.
-
(1999)
Arterioscler Thromb Vasc Biol
, vol.19
, pp. 1734-1743
-
-
Acton, S.1
Osgood, D.2
Donoghue, M.3
-
59
-
-
0032813808
-
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
-
Brooks-Wilson A, Marcil M, Clee SM, et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet 1999; 22:336-345.
-
(1999)
Nat Genet
, vol.22
, pp. 336-345
-
-
Brooks-Wilson, A.1
Marcil, M.2
Clee, S.M.3
-
60
-
-
0032813660
-
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1
-
Rust S, Rosier M, Funke H, et al. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet. 1999; 22:352-355.
-
(1999)
Nat Genet
, vol.22
, pp. 352-355
-
-
Rust, S.1
Rosier, M.2
Funke, H.3
-
61
-
-
0032813809
-
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease
-
Bodzioch M, Orso E, Klucken J, et al. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet 1999; 22:347-351.
-
(1999)
Nat Genet
, vol.22
, pp. 347-351
-
-
Bodzioch, M.1
Orso, E.2
Klucken, J.3
-
62
-
-
0033692757
-
Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes
-
Clee SM, Kastelein JJ, van Dam M, et al. Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. J Clin Invest 2000; 106:1263-1270.
-
(2000)
J Clin Invest
, vol.106
, pp. 1263-1270
-
-
Clee, S.M.1
Kastelein, J.J.2
Van Dam, M.3
-
63
-
-
0033576209
-
Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux
-
Marcil M, Brooks-Wilson A, Clee SM, et al. Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux. Lancet 1999; 354:1341-1346.
-
(1999)
Lancet
, vol.354
, pp. 1341-1346
-
-
Marcil, M.1
Brooks-Wilson, A.2
Clee, S.M.3
-
64
-
-
0035958632
-
Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease
-
Huang W, Moriyama K, Koga T, et al. Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease. Biochim Biophys Acta 2001; 1537:71-78.
-
(2001)
Biochim Biophys Acta
, vol.1537
, pp. 71-78
-
-
Huang, W.1
Moriyama, K.2
Koga, T.3
-
65
-
-
19244377100
-
Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds
-
Brousseau ME, Schaefer EJ, Dupuis J, et al. Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds. J Lipid Res 2000; 41:433-441.
-
(2000)
J Lipid Res
, vol.41
, pp. 433-441
-
-
Brousseau, M.E.1
Schaefer, E.J.2
Dupuis, J.3
-
66
-
-
0342811295
-
Human ATP-binding cassette transporter 1 (ABC1): Genomic organization and identification of the genetic defect in the original Tangier disease kindred
-
Remaley AT, Rust S, Rosier M, et al. Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred. Proc Natl Acad Sci U S A 1999; 96:12685-12690.
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 12685-12690
-
-
Remaley, A.T.1
Rust, S.2
Rosier, M.3
-
67
-
-
0032725185
-
The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway
-
Lawn RM, Wade DP, Garvin MR, et al. The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway. J Ciin Invest 1999; 104:R25-R31.
-
(1999)
J Ciin Invest
, vol.104
-
-
Lawn, R.M.1
Wade, D.P.2
Garvin, M.R.3
-
68
-
-
0035814958
-
Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease
-
Clee SM, Zwinderman AH, Engert JC, et al. Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation 2001; 103:1198-1205.
-
(2001)
Circulation
, vol.103
, pp. 1198-1205
-
-
Clee, S.M.1
Zwinderman, A.H.2
Engert, J.C.3
-
69
-
-
0035864640
-
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease
-
Bertolini S, Pisciotta L, Seri M, et al. A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease. Atherosclerosis 2001; 154:599-605.
-
(2001)
Atherosclerosis
, vol.154
, pp. 599-605
-
-
Bertolini, S.1
Pisciotta, L.2
Seri, M.3
-
70
-
-
0033903231
-
Common and rare ABCA1 variants affecting plasma HDL cholesterol
-
Wang J, Burnett JR, Near S, et al. Common and rare ABCA1 variants affecting plasma HDL cholesterol. Arterioscler Thromb Vasc Biol 2000; 20:1983-1989.
-
(2000)
Arterioscler Thromb Vasc Biol
, vol.20
, pp. 1983-1989
-
-
Wang, J.1
Burnett, J.R.2
Near, S.3
-
71
-
-
0035958629
-
Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome
-
Lapicka-Bodzioch K, Bodzioch M, Krull M, et al. Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome. Biochim Biophys Acta 2001; 1537:42-48.
-
(2001)
Biochim Biophys Acta
, vol.1537
, pp. 42-48
-
-
Lapicka-Bodzioch, K.1
Bodzioch, M.2
Krull, M.3
-
72
-
-
0036801569
-
ABCA1 (Alabama): A novel variant associated with HDL deficiency and premature coronary artery disease
-
Hong SH, Rhyne J, Zeller K, Miller M. ABCA1 (Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease. Atherosclerosis 2002; 164:245-250. This study extends recent data that a single defective allele in ABCA1 may be associated with reduced HDL-cholesterol and FHA.
-
(2002)
Atherosclerosis
, vol.164
, pp. 245-250
-
-
Hong, S.H.1
Rhyne, J.2
Zeller, K.3
Miller, M.4
-
73
-
-
10744222201
-
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G > C mutation in ABCA1 gene
-
Altilia S, Pisciotta L, Garuti R, et al. Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G > C mutation in ABCA1 gene. J Lipid Res 2003; 44:254-264. This work describes two point mutations in a Tangier disease patient, G > C in intron 2 (IVS2 +5G/C), and 1239 C/T (R282X). The R282X mutation predicts a truncated protein, whereas the splicing mutation was found to disrupt ABCA1 pre-messenger RNA splicing in fibroblasts, leading to abnormal messenger RNAs. ABCA1 minigenes were constructed to examine in-vitro effects.
-
(2003)
J Lipid Res
, vol.44
, pp. 254-264
-
-
Altilia, S.1
Pisciotta, L.2
Garuti, R.3
-
74
-
-
0036299871
-
Clinical variant of Tangier disease in Japan: Mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis
-
Ishii J, Nagano M, Kujiraoka T, et al. Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis. J Hum Genet 2002; 47:366-369. The authors present a Tangier disease patient with a novel homozygous ABCA1 mutation (R1680W). The clinical manifestations include corneal opacities, premature coronary artery disease, as well as an almost complete absence of HDL-cholesterol.
-
(2002)
J Hum Genet
, vol.47
, pp. 366-369
-
-
Ishii, J.1
Nagano, M.2
Kujiraoka, T.3
-
75
-
-
18444396314
-
Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency
-
Nishida Y, Hirano K, Tsukamoto K, et al. Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency. Biochem Biophys Res Commun 2002; 290:713-721. Three ABCA1 mutations (G1158A/A255T; C5946T/R1851X; A5226G/N1611D) associated with familial high-density lipoprotein deficiency were examined. While cholesterol efflux was decreased in all fibrobtast lines, abnormalities and dysfunction of ABCA1 occurred at different regulatory levels. In fibroblasts from the A255T patient, the immunoreactive mass of ABCA1 was not detected. In R1851X and N1611D fibroblasts, messenger RNA was shown to be normal. However, R1851X was observed to produce markedly reduced amount of mutant protein and although expression of N1611D ABCA1 protein was normal, cholesterol efflux from the cells was markedly reduced.
-
(2002)
Biochem Biophys Res Commun
, vol.290
, pp. 713-721
-
-
Nishida, Y.1
Hirano, K.2
Tsukamoto, K.3
|