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Volumn 94, Issue 7, 1996, Pages 1622-1628

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

Author keywords

apolipoproteins; coronary disease; genetics; lipoproteins

Indexed keywords

APOLIPOPROTEIN A1; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

EID: 10144236519     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.94.7.1622     Document Type: Article
Times cited : (67)

References (36)
  • 1
    • 0024449985 scopus 로고
    • High density lipoproteins: The clinical implications of recent studies
    • Gordon D, Rifkind BM. High density lipoproteins: the clinical implications of recent studies. N Engl J Med. 1989;321:1311-1315.
    • (1989) N Engl J Med , vol.321 , pp. 1311-1315
    • Gordon, D.1    Rifkind, B.M.2
  • 2
    • 0024996141 scopus 로고
    • Plasmu high density lipoproteins: Metabolism and relationship to atherogenesis
    • Tall AR. Plasmu high density lipoproteins: metabolism and relationship to atherogenesis. J Clin Invest. 1990;86:379-384.
    • (1990) J Clin Invest , vol.86 , pp. 379-384
    • Tall, A.R.1
  • 3
    • 0024556170 scopus 로고
    • Genetic heritability and common environmental components of resting and stressed Wood pressure, lipids and body mass index in Utah pedigrees and twins
    • Hunt SC, Hasstedt SJ, Kuida H, Stults BM, Hopkins PN, Williams RR. Genetic heritability and common environmental components of resting and stressed Wood pressure, lipids and body mass index in Utah pedigrees and twins. Am J Epidemiol. 1989;129:625-638.
    • (1989) Am J Epidemiol , vol.129 , pp. 625-638
    • Hunt, S.C.1    Hasstedt, S.J.2    Kuida, H.3    Stults, B.M.4    Hopkins, P.N.5    Williams, R.R.6
  • 5
    • 0027537270 scopus 로고
    • High density lipoproteins, reverse transport of cholesterol, and coronary heart disease: Insights from mutants
    • Assmann G, von Eckardstein A, Funke H. High density lipoproteins, reverse transport of cholesterol, and coronary heart disease: insights from mutants. Circulation. 1993;87(suppl III):III-2X-III-34.
    • (1993) Circulation , vol.87 , Issue.3 SUPPL.
    • Assmann, G.1    Von Eckardstein, A.2    Funke, H.3
  • 6
    • 0001474759 scopus 로고
    • Familial disorders of high density lipoprotein metabolism
    • Scriver CR, Beaudet AC Sly WS, Valle D, eds. New York, NY: McGraw-Hill Information Services
    • Breslow JL. Familial disorders of high density lipoprotein metabolism. In: Scriver CR, Beaudet AC Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. 7th ed. New York, NY: McGraw-Hill Information Services; 1995:2031-2052.
    • (1995) The Metabolic Basis of Inherited Disease. 7th Ed. , pp. 2031-2052
    • Breslow, J.L.1
  • 7
    • 0000578727 scopus 로고
    • Familial lecithin: Cholesterol acyl-transferase deficiency and fish-eye disease
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York. NY: McGraw-Hill Information Services
    • Norum KR, Assmann G, Glomset JA. Familial lecithin: cholesterol acyl-transferase deficiency and fish-eye disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. 7th ed. New York. NY: McGraw-Hill Information Services; 1995:1933-1951.
    • (1995) The Metabolic Basis of Inherited Disease. 7th Ed. , pp. 1933-1951
    • Norum, K.R.1    Assmann, G.2    Glomset, J.A.3
  • 8
    • 0001071459 scopus 로고
    • Familial high density lipoprotein deficiency: Tangier disease
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York, NY: McGraw-Hill Information Services
    • Assmann G, von Eckardstein A, Brewer HB Jr. Familial high density lipoprotein deficiency: Tangier disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. 7th ed. New York, NY: McGraw-Hill Information Services; 1995:2053-2072.
    • (1995) The Metabolic Basis of Inherited Disease. 7th Ed. , pp. 2053-2072
    • Assmann, G.1    Von Eckardstein, A.2    Brewer Jr., H.B.3
  • 10
    • 0000677439 scopus 로고
    • Estimation of the concentration of low density lipoprotein in plasma without use of a preparative ultracentrifuge
    • Friedewald WT, Levy RI, Fredrickson DS. Estimation of the concentration of low density lipoprotein in plasma without use of a preparative ultracentrifuge. Clin Chem. 1972;18:449-456.
    • (1972) Clin Chem , vol.18 , pp. 449-456
    • Friedewald, W.T.1    Levy, R.I.2    Fredrickson, D.S.3
  • 11
    • 0023786240 scopus 로고
    • Human apolipoprotein A-IV polymorphism: Frequency and effect on lipid and lipoprotein levels
    • Menzel HJ, Boerwinkle E, Schrangl-Will S, Utermann G. Human apolipoprotein A-IV polymorphism: frequency and effect on lipid and lipoprotein levels. Hum Genet. 1988;79:368-372.
    • (1988) Hum Genet , vol.79 , pp. 368-372
    • Menzel, H.J.1    Boerwinkle, E.2    Schrangl-Will, S.3    Utermann, G.4
  • 13
    • 0029055882 scopus 로고
    • Screening for naturally occurring apolipoprotein A-I variants: Apo A-I(ΔK107) is associated with low HDL-cholesterol levels in men but not in women
    • Nofer JR, von Eckardstein A, Wiebush H, Weng W, Funke H, Schulte H, Kohler E, Assmann G. Screening for naturally occurring apolipoprotein A-I variants: apo A-I(ΔK107) is associated with low HDL-cholesterol levels in men but not in women. Hum Genet. 1995;96:177-182.
    • (1995) Hum Genet , vol.96 , pp. 177-182
    • Nofer, J.R.1    Von Eckardstein, A.2    Wiebush, H.3    Weng, W.4    Funke, H.5    Schulte, H.6    Kohler, E.7    Assmann, G.8
  • 14
    • 0016253533 scopus 로고
    • Methods of exercise testing: Step test, bicycle, treadmill, isometrics
    • Bruce RA. Methods of exercise testing: step test, bicycle, treadmill, isometrics. Am J Cardiol. 1974;33:715-720.
    • (1974) Am J Cardiol , vol.33 , pp. 715-720
    • Bruce, R.A.1
  • 15
    • 0014147066 scopus 로고
    • Selective coronary arteriography: A percutaneous transfemoral technique
    • Judkins MP. Selective coronary arteriography: a percutaneous transfemoral technique. Radiology. 1967;89:815-824.
    • (1967) Radiology , vol.89 , pp. 815-824
    • Judkins, M.P.1
  • 16
    • 0344189687 scopus 로고
    • DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain pa tients with premature atherosclerosis
    • Karathanasis SK, Ferris E, Haddad IA. DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain pa tients with premature atherosclerosis. Proc Natl Acad Sci U S A. 1987;84:7198-7202.
    • (1987) Proc Natl Acad Sci U S A , vol.84 , pp. 7198-7202
    • Karathanasis, S.K.1    Ferris, E.2    Haddad, I.A.3
  • 17
    • 0024443049 scopus 로고
    • Familial apolipoprotein A-I, C-III, and A-IV deficiency and premature atherosclerosis due to deletion of a gene complex on chromosome 11
    • Ordovas JM, Cassidy DK, Civeira F, Bisgaier CL, Schaefer EJ. Familial apolipoprotein A-I, C-III, and A-IV deficiency and premature atherosclerosis due to deletion of a gene complex on chromosome 11. J Biol Chem. 1989:264:16339-16342.
    • (1989) J Biol Chem. , vol.264 , pp. 16339-16342
    • Ordovas, J.M.1    Cassidy, D.K.2    Civeira, F.3    Bisgaier, C.L.4    Schaefer, E.J.5
  • 19
    • 0028157828 scopus 로고
    • Apolipoprotein A-I Q(-2)X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia
    • Ng DS, Leiter LA, Vezina C, Conelly PW, Hegele RA. Apolipoprotein A-I Q(-2)X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia. J Clin Invest. 1994;93:223-229.
    • (1994) J Clin Invest , vol.93 , pp. 223-229
    • Ng, D.S.1    Leiter, L.A.2    Vezina, C.3    Conelly, P.W.4    Hegele, R.A.5
  • 20
    • 0027429343 scopus 로고
    • High density lipoprotein deficiency with xanthomas: A defect in reverse cholesterol transport caused by a point mutation in the apolipoprotein A-I gene
    • Lackner KJ, Dieplinger H, Nowicka G, Schmitz G. 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.
    • (1993) J Clin Invest , vol.92 , pp. 2262-2273
    • Lackner, K.J.1    Dieplinger, H.2    Nowicka, G.3    Schmitz, G.4
  • 22
    • 0028170617 scopus 로고
    • A nonsense mutation in the apolipoprotein A-I gene is associated with high density lipoprotein deficiency but not with coronary heart disease
    • Römling R, von Eckardstein A, Funke H, Motti C, Fragiacomo G, Noseda G, Assmann G. A nonsense mutation in the apolipoprotein A-I gene is associated with high density lipoprotein deficiency but not with coronary heart disease. Arterioscler Thromb. 1994;14:1915-1922.
    • (1994) Arterioscler Thromb , vol.14 , pp. 1915-1922
    • Römling, R.1    Von Eckardstein, A.2    Funke, H.3    Motti, C.4    Fragiacomo, G.5    Noseda, G.6    Assmann, G.7
  • 23
    • 0026101257 scopus 로고
    • A frameshift mutation in the apo A-I gene causes corneal opacities, HDL deficiency and partial LCAT deficiency, a syndrome that is distinct from fish eye disease
    • Funke H, von Eckardstein A, Pritchard PH, Karas M, Albers JJ, Assmann G. A frameshift mutation in the apo A-I gene causes corneal opacities, HDL deficiency and partial LCAT deficiency, a syndrome that is distinct from fish eye disease. J Clin Invest. 1991;87:375-380.
    • (1991) J Clin Invest , vol.87 , pp. 375-380
    • Funke, H.1    Von Eckardstein, A.2    Pritchard, P.H.3    Karas, M.4    Albers, J.J.5    Assmann, G.6
  • 25
    • 0024803138 scopus 로고
    • Apolipoprotein A-I variants: Naturally occurring substitutions of protine residues affect plasma concentrations of apolipoprotein A-I
    • von Eckardstein A, Funke H, Henke A, Altland K, Benninghoven A, Assmann G. Apolipoprotein A-I variants: naturally occurring substitutions of protine residues affect plasma concentrations of apolipoprotein A-I. J Clin Invest. 1989;84:1722-1730.
    • (1989) J Clin Invest , vol.84 , pp. 1722-1730
    • Eckardstein, A.1    Funke, H.2    Henke, A.3    Altland, K.4    Benninghoven, A.5    Assmann, G.6
  • 28
    • 0028287280 scopus 로고
    • Unique epitope of apolipoprotein A-I expressed in preβ-1 high density lipoprotein and its role in the catalyzed efflux of cellular cholesterol
    • Fielding PE, Kawano M, Catapano AL, Zoppo A, Marcovina S, Fielding CJ. Unique epitope of apolipoprotein A-I expressed in preβ-1 high density lipoprotein and its role in the catalyzed efflux of cellular cholesterol. Biochemistry. 1994;33:6981-6985.
    • (1994) Biochemistry , vol.33 , pp. 6981-6985
    • Fielding, P.E.1    Kawano, M.2    Catapano, A.L.3    Zoppo, A.4    Marcovina, S.5    Fielding, C.J.6
  • 30
    • 0030039520 scopus 로고    scopus 로고
    • Identification of a sequence in apolipoprotein A-I associated with the efflux of intracellular cholesterol to human species and apolipoprotein A-I containing particles
    • Sviridov D, Pyle L, Fidege N. Identification of a sequence in apolipoprotein A-I associated with the efflux of intracellular cholesterol to human species and apolipoprotein A-I containing particles. Bio-chemistry. 1996;35:189-196.
    • (1996) Bio-chemistry , vol.35 , pp. 189-196
    • Sviridov, D.1    Pyle, L.2    Fidege, N.3
  • 31
    • 0000710395 scopus 로고
    • Familial hypercholesterolemia
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York, NY: McGraw-Hill Information Services
    • Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. 7th ed. New York, NY: McGraw-Hill Information Services; 1995:1981-2030.
    • (1995) The Metabolic Basis of Inherited Disease. 7th Ed. , pp. 1981-2030
    • Goldstein, J.L.1    Hobbs, H.H.2    Brown, M.S.3
  • 32
    • 0027330901 scopus 로고
    • Lack of apo A-I is not associated with increased susceptibility to atherosclerosis in mice
    • Li H, Reddick RL, Maeda N. Lack of apo A-I is not associated with increased susceptibility to atherosclerosis in mice. Arterioscler Thromb. 1993;13:1814-1821.
    • (1993) Arterioscler Thromb , vol.13 , pp. 1814-1821
    • Li, H.1    Reddick, R.L.2    Maeda, N.3
  • 33
    • 0028167663 scopus 로고
    • Apolipoprotein AI transgene corrects apolipoprotein E deficiency-induced atherosclerosis in mice
    • Pastzy C, Maeda N, Verstuyft J, Rubin EM. Apolipoprotein AI transgene corrects apolipoprotein E deficiency-induced atherosclerosis in mice. J Clin Invest. 1994;94:899-903.
    • (1994) J Clin Invest , vol.94 , pp. 899-903
    • Pastzy, C.1    Maeda, N.2    Verstuyft, J.3    Rubin, E.M.4


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