메뉴 건너뛰기




Volumn 119, Issue 2, 1996, Pages 159-167

The lipoprotein lipase (Asn291 → Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia

Author keywords

Cholesterol; Familial combined hyperlipidaemia; Lipoprotein lipase; LPL(Asn291 Ser) mutation; Triglycerides

Indexed keywords

CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPOPROTEIN LIPASE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL; VERY LOW DENSITY LIPOPROTEIN;

EID: 0030032347     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/0021-9150(95)05641-6     Document Type: Article
Times cited : (66)

References (31)
  • 1
    • 0015796295 scopus 로고
    • Genetic analysis of lipid levels in 176 families and delineation of new inherited disorder, combined hyperlipidaemia
    • Goldstein JL. Schrott HG. Hazzard WR. Bierman HL Motulsky GA. II. Genetic analysis of lipid levels in 176 families and delineation of new inherited disorder, combined hyperlipidaemia. J Clin Invest 1973;52:1544.
    • (1973) J Clin Invest , vol.52 , pp. 1544
    • Goldstein, J.L.1    Schrott, H.G.2    Hazzard, W.R.3    Bierman, H.L.4    Motulsky G.A. II5
  • 3
    • 0023179165 scopus 로고
    • Hyperabetalipoproteinemia in a kindred with familial combined hyperlipidaemia and familial hypercholesterolemia
    • Kwiterovich PO Jr, White S, Forte T, Bachorik PS Smith H. Sniderman A. Hyperabetalipoproteinemia in a kindred with familial combined hyperlipidaemia and familial hypercholesterolemia. Arteriosclerosis 1987;7:211.
    • (1987) Arteriosclerosis , vol.7 , pp. 211
    • Kwiterovich P.O., Jr.1    White, S.2    Forte, T.3    Bachorik, P.S.4    Smith, H.5    Sniderman, A.6
  • 4
    • 0025313659 scopus 로고
    • Inheritance of low density lipoprotein subclass phenotypes in familial combined hyperlipidaemia
    • Austin MA, Brunzell JD, Fitch WL, Krauss RM. Inheritance of low density lipoprotein subclass phenotypes in familial combined hyperlipidaemia. Arteriosclerosis 1990;10:520.
    • (1990) Arteriosclerosis , vol.10 , pp. 520
    • Austin, M.A.1    Brunzell, J.D.2    Fitch, W.L.3    Krauss, R.M.4
  • 6
    • 0020621407 scopus 로고
    • Plasma lipoproteins in familial combined hyperlipidaemia and monogenic familial hypertriglyceridemia
    • Brunzell JD, Albers JJ, Chait A, Grundy SM, Groszek E McDonald GB. Plasma lipoproteins in familial combined hyperlipidaemia and monogenic familial hypertriglyceridemia. J Lipid Res 1980;24:147.
    • (1980) J Lipid Res , vol.24 , pp. 147
    • Brunzell, J.D.1    Albers, J.J.2    Chait, A.3    Grundy, S.M.4    Groszek, E.5    McDonald, G.B.6
  • 7
    • 0027991557 scopus 로고
    • Complex segregation analysis provides evidence for a major gene acting on serum triglyceride levels in 55 british families with familial combined hyperlipidaemia
    • Cullen P, Farren B, Scott J, Farraall M. Complex segregation analysis provides evidence for a major gene acting on serum triglyceride levels in 55 british families with familial combined hyperlipidaemia. Arterioscler Thromb 1994;14:1233.
    • (1994) Arterioscler Thromb , vol.14 , pp. 1233
    • Cullen, P.1    Farren, B.2    Scott, J.3    Farraall, M.4
  • 8
    • 0027415567 scopus 로고
    • Genetics and molecular biology of familial combined hyperlipidaemia
    • Kwiterovich PO. Genetics and molecular biology of familial combined hyperlipidaemia. Curr Opin Lipidol 1993;4:133.
    • (1993) Curr Opin Lipidol , vol.4 , pp. 133
    • Kwiterovich, P.O.1
  • 11
    • 0026584256 scopus 로고
    • Linkage of atherogenic lipoprotein phenotype to the low density lipoprotein receptor locus on the short arm of chromosome 19
    • Nishina PM, Johnson JP, Naggert JK, Krauss RM. Linkage of atherogenic lipoprotein phenotype to the low density lipoprotein receptor locus on the short arm of chromosome 19. Proc Natl Acad Sci USA 1992;89:708.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 708
    • Nishina, P.M.1    Johnson, J.P.2    Naggert, J.K.3    Krauss, R.M.4
  • 12
    • 0024383955 scopus 로고
    • Deletion and characterization of the heterozygote state for lipoprotein lipase deficiency
    • Babirak SP, Ivenus P-H, Fujimoto WY, Brunzell JD. Deletion and characterization of the heterozygote state for lipoprotein lipase deficiency. Arteriosclerosis 1989;9:326.
    • (1989) Arteriosclerosis , vol.9 , pp. 326
    • Babirak, S.P.1    Ivenus, P.-H.2    Fujimoto, W.Y.3    Brunzell, J.D.4
  • 13
    • 0026731011 scopus 로고
    • Familial combined hyperlipidaemia and abnormal lipoprotein lipase
    • Babirak SP, Brown BG, Brunzell JD. Familial combined hyperlipidaemia and abnormal lipoprotein lipase. Arterioscler Thromb 1992;12:1176.
    • (1992) Arterioscler Thromb , vol.12 , pp. 1176
    • Babirak, S.P.1    Brown, B.G.2    Brunzell, J.D.3
  • 15
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from nucleated cells
    • Miller SA, Dykes DD. Polesky HF. A simple salting out procedure for extracting DNA from nucleated cells. Nucl Acid Res 1988;16:1215.
    • (1988) Nucl Acid Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 16
    • 0017646140 scopus 로고
    • Evaluation of the dual-precipitation method by comparison with the ultracentrifugation method for measurement of lipoproteins in serum
    • Demacker PNM, Vos-Janssen HE, Jansen AP, van 't Laar A. Evaluation of the dual-precipitation method by comparison with the ultracentrifugation method for measurement of lipoproteins in serum. Clin Chem 1977;23:1238.
    • (1977) Clin Chem , vol.23 , pp. 1238
    • Demacker, P.N.M.1    Vos-Janssen, H.E.2    Jansen, A.P.3    Van 't Laar, A.4
  • 17
    • 0019174316 scopus 로고
    • A study of the use of polyethylene glycol in estimating cholesterol in high density lipoprotein
    • Demacker PNM, Hijmans AG, Vos-Janssen HE, van't Laar A, Jansen AP. A study of the use of polyethylene glycol in estimating cholesterol in high density lipoprotein. Clin Chem 1980;26:1775.
    • (1980) Clin Chem , vol.26 , pp. 1775
    • Demacker, P.N.M.1    Hijmans, A.G.2    Vos-Janssen, H.E.3    Van't Laar, A.4    Jansen, A.P.5
  • 18
    • 0015348189 scopus 로고
    • Estimation of the concentration of low density lipoprotein cholesterol in plasma without use of the preparative ultracentrifuge
    • Friedewald WT, Levy R, Fredrickson DS. Estimation of the concentration of low density lipoprotein cholesterol in plasma without use of the preparative ultracentrifuge. Clin Chem 1972;18:499.
    • (1972) Clin Chem , vol.18 , pp. 499
    • Friedewald, W.T.1    Levy, R.2    Fredrickson, D.S.3
  • 20
    • 0024190141 scopus 로고
    • Programs for pedigree analysis: MENDEL, FISHER and dGENE
    • Lange K, Weeks K, Boehnke M. Programs for pedigree analysis: MENDEL, FISHER and dGENE. Genet Epidemiol 1988;5:471.
    • (1988) Genet Epidemiol , vol.5 , pp. 471
    • Lange, K.1    Weeks, K.2    Boehnke, M.3
  • 21
    • 0017165430 scopus 로고
    • Extensions to pedigree analysis III. Variance components by the scoring method
    • Lange K, Westlake J, Spence MA. Extensions to pedigree analysis III. Variance components by the scoring method. Ann Hum Genet 1976;39:485.
    • (1976) Ann Hum Genet , vol.39 , pp. 485
    • Lange, K.1    Westlake, J.2    Spence, M.A.3
  • 22
  • 23
    • 0025038552 scopus 로고
    • The effects of generation and gender on the joint distributions of lipid and apolipoprotein phenotypes in the population at large
    • Reilly SL, Kottke BA, Sing CF. The effects of generation and gender on the joint distributions of lipid and apolipoprotein phenotypes in the population at large. J Clin Epidemiol 1990;43:921.
    • (1990) J Clin Epidemiol , vol.43 , pp. 921
    • Reilly, S.L.1    Kottke, B.A.2    Sing, C.F.3
  • 24
    • 0022534793 scopus 로고
    • Genetic and cultural inheritance of serum lipids, low and high density lipoprotein cholesterol and serum apolipoproteins A-I, A-II, and B
    • Hamsten A, Iselius L. Dahlén G, de Faire U. Genetic and cultural inheritance of serum lipids, low and high density lipoprotein cholesterol and serum apolipoproteins A-I, A-II, and B. Atherosclerosis 1986;60:199.
    • (1986) Atherosclerosis , vol.60 , pp. 199
    • Hamsten, A.1    Iselius, L.2    Dahlén, G.3    De Faire, U.4
  • 26
    • 0025167797 scopus 로고
    • Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation
    • Wilson DA, Emi M, Iverius P-H, Hata A, Wu LL, Hillas E, Williams RR, Lalouel J-M. Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation. J Clin Invest 1990;86:735.
    • (1990) J Clin Invest , vol.86 , pp. 735
    • Wilson, D.A.1    Emi, M.2    Iverius, P.-H.3    Hata, A.4    Wu, L.L.5    Hillas, E.6    Williams, R.R.7    Lalouel, J.-M.8
  • 27
    • 0027535752 scopus 로고
    • Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities
    • Miesenböck G, Hölz B, Föger B, Brandstätter E Paulweber B, Sandhofer F, Patch JR. Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities. J Clin Invest 1993;91:448.
    • (1993) J Clin Invest , vol.91 , pp. 448
    • Miesenböck, G.1    Hölz, B.2    Föger, B.3    Brandstätter, E.4    Paulweber, B.5    Sandhofer, F.6    Patch, J.R.7
  • 28
    • 0029046821 scopus 로고
    • The lowdown on lipoprotein lipase
    • Funke H, Assmann G. The lowdown on lipoprotein lipase. Nat Genet 1995;10:6.
    • (1995) Nat Genet , vol.10 , pp. 6
    • Funke, H.1    Assmann, G.2
  • 29
    • 0028179511 scopus 로고
    • The LPL gene in individuals with familial combined hyperlipidaemia and decreased LPL activity
    • Nevin DN, Brunzell JD, Deeb SS, The LPL gene in individuals with familial combined hyperlipidaemia and decreased LPL activity. Arterioscler Thromb 1994;14:869.
    • (1994) Arterioscler Thromb , vol.14 , pp. 869
    • Nevin, D.N.1    Brunzell, J.D.2    Deeb, S.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.