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Hausmann D, Johnson JA, Sudhir K, Mullen WL, Friedrich G, Fitzgerald PJ, Chou TM, Ports TA, Kane JP, Malloy MJ, Yock PG: Angiographically silent atherosclerosis detected by intravascular ultrasound in patients with familial hypercholesterolemia and familial combined hyperlipidemia: correlation with high density lipoproteins. J Am Coll Cardiol 1996, 27:1562 1570. The extent of atherosclerosis in coronary and iliac arteries was investigated in 48 asymptomatic hyperlipidemic patients, using intravascular ultrasound imaging. The authors concluded that intravascular ultrasound detects plaque more frequently than angiography; by stepwise multiple regression analysis, the strongest predictors for plaque extent and severity were plasma HDL-cholesterol and total/HDL-cholesterol ratio.
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Duverger N, Viglietta C, Berthou L, Emmanuel F, Tailleux A, Parmentier-Nihoul L, Laine B, Fievet C, Castro G, Fruchart JC et al.: Transgenic rabbits expressing human apolipoprotein A-I in the liver. Arterioscler Thromb Vasc Biol 1996, 16:1424-142.
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9544221670
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Inhibition of atherosclerosis development in cholesterol-fed human apolipoprotein A-I-transgenic rabbits
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Duverger N, Kruth H, Emmanuel F, Caillaud JM, Viglietta C, Castro GR, Tailleux A, Fievet C, Fruchart JC, Houdebine LM et al.: Inhibition of atherosclerosis development in cholesterol-fed human apolipoprotein A-I-transgenic rabbits. Circulation 1996, 94:713 717. In this study the authors demonstrate that the overexpression of human apoA-I in rabbits enhances plasma HDL levels and protects the aorta from diet-induced atherosclerosis.
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Duverger, N.1
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7
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0029832009
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Apolipoprotein A-I and B levels and the risk of ischemic heart disease during a five-year follow-up of men in the Quebec cardiovascular study
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Lamarche B, Moorjani S, Lupien PJ, Cantin B, Bernard PM, Dagenais GR, Despres JP: Apolipoprotein A-I and B levels and the risk of ischemic heart disease during a five-year follow-up of men in the Quebec cardiovascular study. Circulation 1996, 94:273-278.
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0029948968
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Increased coronary heart disease in Japanese-American men with mutation in the cholesteryl ester transfer protein gene despite increased HDL levels
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Zhong S, Sharp DS, Grove JS, Bruce C, Yano K, Curb JD, Tall AR: 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. A large cross-sectional examination of the relationship between mutations in the cholesteryl ester transfer protein gene and CDH.
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J Clin Invest
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Fielding, C.J.1
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10
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0029657764
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A novel A→G mutation in intron 1 of the hepatic lipase gene leads to alternative splicing resulting in enzyme deficiency
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Brand K, Dugi KA, Brunzell JD, Nevin DN, Santamarina-Fojo S: A novel A→G mutation in intron 1 of the hepatic lipase gene leads to alternative splicing resulting in enzyme deficiency. J Lipid Res 1996, 37:1213 1223.
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Brand, K.1
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0029820675
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Franceschini G: Apolipoprotein function in health and disease. Insights from natural mutations. Eur J Clin Invest 1996, 26:733 746. A recent review examining the effect of natural apolipoprotein mutants on lipoprotein metabolism and cardiovascular risk.
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0030482546
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A cysteine-containing truncated apoA-I variant associated with HDL deficiency
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Moriyama K, Sasaki J, Takada Y, Matsunaga A, Fukui J, Albers JJ, Arakawa K: A cysteine-containing truncated apoA-I variant associated with HDL deficiency. Arterioscler Thromb Vasc Biol 1996, 16:1416 1423. The authors describe a novel mutation in the apoA-I gene identified in a Japanese woman with HDL deficiency, xanthomas, corneal opacities and partial LCAT and cholesteryl ester transfer protein deficiency, but no evidence of CHD.
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Arterioscler Thromb Vasc Biol
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Moriyama, K.1
Sasaki, J.2
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Albers, J.J.6
Arakawa, K.7
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13
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0029783094
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Effects of deletion of the carboxyl-terminal domain of ApoA-I or of its substitution with helices of ApoA-II on in vitro and in vivo lipoprotein association
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Holvoet P, Zhao Z, Deridder E, Dhoest A, Collen D: Effects of deletion of the carboxyl-terminal domain of ApoA-I or of its substitution with helices of ApoA-II on in vitro and in vivo lipoprotein association. J Biol Chem 1996, 271:19395 19401.
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Holvoet, P.1
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14
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10144236519
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Compound heterozygosity for a structural apolipoprotein A-I variant, apoA-I(L141R)Pisa, and an apolipoprotein A-I null allele in patients with absence of HDL cholesterol, corneal opacifications, and coronary heart disease
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Miccoli R, Bertolotto A, Navalesi R, Odoguardi L, Boni A, Wessling J, Funke H, Wiebusch H, Eckardstein A, Assmann G: Compound heterozygosity for a structural apolipoprotein A-I variant, apoA-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. The paper describes an Italian family with HDL deficiency caused by compound heterozygosity for a nucleotide deletion and a missense mutation in the apoA-I gene, and premature atherosclerosis.
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Miccoli, R.1
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Wessling, J.6
Funke, H.7
Wiebusch, H.8
Eckardstein, A.9
Assmann, G.10
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15
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0030047675
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Only the two end helixes of eight tandem amphipathic helical domains of human apoA-I have significant lipid affinity. Implications for HDL assembly
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Palgunachari MN, Mishra VK, Lund Katz S, Phillips MC, Adeyeye SO, Alluri S, Anantharamaiah GM, Segrest JP: Only the two end helixes of eight tandem amphipathic helical domains of human apoA-I have significant lipid affinity. Implications for HDL assembly. Arterioscler Thromb Vasc Biol 1996, 16:328 338.
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Arterioscler Thromb Vasc Biol
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Palgunachari, M.N.1
Mishra, V.K.2
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Alluri, S.6
Anantharamaiah, G.M.7
Segrest, J.P.8
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17
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0031059508
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Milano
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Milano mutant, in which the same substitution occurs at residue 173.
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Bruckert, E.1
Von Eckardstein, A.2
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Wiebusch, H.5
Turpin, G.6
Assmann, G.7
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18
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0029967616
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Identification of two apolipoprotein variants, A-I Karatsu (Tyr 100→His) and A-I Kurume (His 162→GIn)
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Moriyama K, Sasaki J, Matsunaga A, Takada Y, Kagimoto M, Arakawa K: Identification of two apolipoprotein variants, A-I Karatsu (Tyr 100→His) and A-I Kurume (His 162→GIn). Clin Genet 1996, 49:79-84.
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Moriyama, K.1
Sasaki, J.2
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Takada, Y.4
Kagimoto, M.5
Arakawa, K.6
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20
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0029948966
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Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene
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Booth DR, Tan SY, Booth SE, Tennent GA, Hutchinson WL, Hsuan JJ, Totty NF, Truong O, Soutar AK, Hawkins PN et al.: Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene. J Clin Invest 1996, 97:2714 2721. A novel amyloidogenic variant of apoA-I was identified in a Spanish family with autosomal-dominant nonneurophatic hereditary amyloidosis.
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J Clin Invest
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Booth, D.R.1
Tan, S.Y.2
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Hsuan, J.J.6
Totty, N.F.7
Truong, O.8
Soutar, A.K.9
Hawkins, P.N.10
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21
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0029937074
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Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene
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Owen JS, Wiebusch H, Cullen P, Watts GF, Lima VL, Funke H, Assmann G: Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene. Hum Mutat 1996, 8:79-82.
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Owen, J.S.1
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Lima, V.L.5
Funke, H.6
Assmann, G.7
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22
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0030034348
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A new molecular defect in the lecithin: Cholesterol acyltransferase (LCAT) gene associated with fish eye disease
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Contacos C, Sullivan DR, Rye KA, Funke H, Assmann G: A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease. J Lipid Res 1996, 37:35-44.
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J Lipid Res
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Contacos, C.1
Sullivan, D.R.2
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Funke, H.4
Assmann, G.5
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23
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0030017367
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An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease)
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Kuivenhoven JA, Weibusch H, Pritchard PH, Funke H, Benne R, Assmann G, Kastelein JJ: An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease). J Clin Invest 1996, 98:358 364.
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J Clin Invest
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Kuivenhoven, J.A.1
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Pritchard, P.H.3
Funke, H.4
Benne, R.5
Assmann, G.6
Kastelein, J.J.7
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24
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0030019949
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Two novel molecular defects in the LCAT gene are associated with fish eye disease
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Kuivenhoven JA, Stalenhoef AF, Hill JS, Demacker PN, Errami A, Kastelein JJ, Pritchard PH: Two novel molecular defects in the LCAT gene are associated with fish eye disease. Arterioscler Thromb Vasc Biol 1996, 16:294 303. An interesting study describing a new case of FED caused by compound heterozygosity for two different mutations in the LCAT gene, associated with premature coronary artery disease. A review of clinical data on previously published cases of partial LCAT deficiency raises questions on the risk of atherosclerosis in this syndrome.
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Arterioscler Thromb Vasc Biol
, vol.16
, pp. 294-303
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Kuivenhoven, J.A.1
Stalenhoef, A.F.2
Hill, J.S.3
Demacker, P.N.4
Errami, A.5
Kastelein, J.J.6
Pritchard, P.H.7
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25
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0030049443
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Lecithin:cholesterol acyltransferase overexpression generates hyperalphalipoproteinemia and a nonatherogenic lipoprotein pattern in transgenic rabbits
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Hoeg JM, Vaisman BL, Demosky SJ Jr, Meyn SM, Talley GD, Hoyt RF Jr, Feldman S, Berard AM, Sakai N, Wood D et al.: Lecithin:cholesterol acyltransferase overexpression generates hyperalphalipoproteinemia and a nonatherogenic lipoprotein pattern in transgenic rabbits. J Biol Chem 1996, 271:4396-4402.
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J Biol Chem
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Hoeg, J.M.1
Vaisman, B.L.2
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Talley, G.D.5
Hoyt Jr., R.F.6
Feldman, S.7
Berard, A.M.8
Sakai, N.9
Wood, D.10
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26
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16044372278
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Overexpression of lecithin:cholesterol acyltransferase in transgenic rabbits prevents diet-induced atherosclerosis
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Hoeg JM, Santamarina-Fojo S, Berard AM, Cornhill JF, Herderick EE, Feldman SH, Haudenschild CC, Vaisman BL, Hoyt RF Jr, Demosky SJ Jr, et al.: Overexpression of lecithin:cholesterol acyltransferase in transgenic rabbits prevents diet-induced atherosclerosis. Proc Natl Acad Sci USA 1996, 93:11448 11453.
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Proc Natl Acad Sci USA
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Hoeg, J.M.1
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Feldman, S.H.6
Haudenschild, C.C.7
Vaisman, B.L.8
Hoyt Jr., R.F.9
Demosky Jr., S.J.10
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27
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0029845121
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Potential gene therapy for lecithin-cholesterol acyltransferase (LCAT)-deficient and hypoalphalipoproteinemic patients with adenovirus-mediated transfer of human LCAT gene
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Seguret-Mace S, Latta-Mahieu M, Castro G, Luc G, Fruchart JC, Rubin E, Denefle P, Duverger N: Potential gene therapy for lecithin-cholesterol acyltransferase (LCAT)-deficient and hypoalphalipoproteinemic patients with adenovirus-mediated transfer of human LCAT gene. Circulation 1996, 94:2177 2184. A gene therapy approach to prevent atherosclerosis in hypoalphalipoproteinemia.
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Seguret-Mace, S.1
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Castro, G.3
Luc, G.4
Fruchart, J.C.5
Rubin, E.6
Denefle, P.7
Duverger, N.8
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28
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0030056398
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Molecular pathobiology of the human lipoproteln lipase gene
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Murthy V, Julien P, Gagne C: Molecular pathobiology of the human lipoproteln lipase gene. Pharmacol Ther 1996, 70:101 135.
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Pharmacol Ther
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Murthy, V.1
Julien, P.2
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29
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0030006214
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Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9→Asn, Tyr262→His)
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Rouis M, Lohse P, Dugi KA, Beg OU, Ronan R, Talley GD, Brunzell JD, Santamarina-Fojo S: Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9→Asn, Tyr262→His). J Lipid Res 1996, 37:651 661.
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J Lipid Res
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Rouis, M.1
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Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene
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Benlian P, de Gennes JL, Foubert L, Zhang H, Gagne SE, Hayden MR: Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. N Engl J Med 1996, 335:848-854. The association of premature atherosclerosis with LPL deficiency is still controversial. This study describes four patients with chylomicronemia caused by mutations in the LPL gene who developed atherosclerosis before the age of 55 years.
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N Engl J Med
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Benlian, P.1
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31
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15844426908
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Alterations in plasma lipoproteins and apolipoprotelns before the age of 40 in heterozygotes for lipoprotein lipase deficiency
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Bijvoet S, Gagne SE, Moorjani S, Gagne C, Henderson HE, Fruchart JC, Dallongeville J, Alaupovic P, Prins M, Kastelein JJ, Hayden MR: Alterations in plasma lipoproteins and apolipoprotelns before the age of 40 in heterozygotes for lipoprotein lipase deficiency. J Lipid Res 1996, 37:640 650. The lipid/lipoprotein profile in a single large French-Canadian family with the P207L mutation in the LPL gene. The study shows significant disturbances in lipoprotein metabolism in heterozygote carriers, clearly supporting the key role of LPL in determining the lipid composition of lipoproteins. Alterations are sometimes evident before the age of 20 years and would predict an increased susceptibility to atherosclerosis.
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J Lipid Res
, vol.37
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Bijvoet, S.1
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0029792173
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Reduced cholesteryl ester transfer in plasma of patients with lipoprotein lipase deficiency
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Bagdade JD, Ritter MC, Lithell H, Bassett D, Mailly F, Talmud P, Hayden MR: Reduced cholesteryl ester transfer in plasma of patients with lipoprotein lipase deficiency. J Lipid Res 1996, 37:1696 1703.
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J Lipid Res
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Common sequence variants of lipoproteln lipase: Standardized studies of in vitro expression and catalytic function
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Zhang H, Henderson H, Gagne SE, Clee SM, Miao L, Liu G, Hayden MR: Common sequence variants of lipoproteln lipase: standardized studies of in vitro expression and catalytic function. Biochim Biophys Acta 1996, 1302:159 166.
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Biochim Biophys Acta
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0029815358
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A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) results in altered postprandial chylomicron triglyceride and retinyl palmitate response in normolipidemic carriers
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Pimstone SN, Clee SM, Gagne SE, Miao L, Zhang H, Stein EA, Hayden MR: A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) results in altered postprandial chylomicron triglyceride and retinyl palmitate response in normolipidemic carriers. J Lipid Res 1996, 37:1675 1684.
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J Lipid Res
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Pimstone, S.N.1
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Hayden, M.R.7
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35
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0029878072
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Association between the LPL-D9N mutation in the lipoprotein lipase gene and plasma lipid traits in myocardial infarction survivors from the ECTIM Study
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Mailly F, Fisher RM, Nicaud V, Luong LA, Evans AE, Marques Vidai P, Luc G, Arveiler D, Bard JM, Poirier O et al.: Association between the LPL-D9N mutation in the lipoprotein lipase gene and plasma lipid traits in myocardial infarction survivors from the ECTIM Study. Atherosclerosis 1996, 122:21 28.
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Atherosclerosis
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Mailly, F.1
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Luc, G.7
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36
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0030032347
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The lipoprotein lipase (Asn291→Ser) mutation is associated with elevated lipid levels in familial with familial combined hyperlipidaemia
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Hoffer MJ, Bredie SJ, Boomsma DI, Reymer PW, Kastelein JJ, de Knijff P, Demacker PN, Stalenhoef AF, Havekes LM, Frants RR: The lipoprotein lipase (Asn291→Ser) mutation is associated with elevated lipid levels in familial with familial combined hyperlipidaemia. Atherosclerosis 1996, 119:159 167.
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Atherosclerosis
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Hoffer, M.J.1
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Regulatory mutations in the human lipoprotein lipase gene in patients with familial combined hyperlipidemia and coronary artery disease
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Yang WS, Nevin DN, Iwasaki L, Peng R, Brown BG, Brunzell JD, Deeb SS: Regulatory mutations in the human lipoprotein lipase gene in patients with familial combined hyperlipidemia and coronary artery disease. J Lipid Res 1996, 37:2627 2637
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