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Volumn 77, Issue 10, 1999, Pages 728-734

Mutations of the human hepatic lipase gene in patients with combined hypertriglyceridemia/hyperalphalipoproteinemia and in patients with familial combined hyperlipidemia

Author keywords

Familial combined hyperlipidemia; Hepatic lipase; Hepatic lipase deficiency; Hepatic lipase gene; Mutation

Indexed keywords

DNA; LIVER TRIACYLGLYCEROL LIPASE;

EID: 0032709520     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001099900053     Document Type: Article
Times cited : (13)

References (25)
  • 1
    • 0028918233 scopus 로고
    • Measurement and physiological significance of lipoprotein and hepatic lipase activities in preheparin plasma
    • Watson TDG, Tan CE, Mcconnell M, Clegg SK, Squires LF, Packard CJ (1995) Measurement and physiological significance of lipoprotein and hepatic lipase activities in preheparin plasma. Clin Chem 41:405-412
    • (1995) Clin Chem , vol.41 , pp. 405-412
    • Watson, T.D.G.1    Tan, C.E.2    Mcconnell, M.3    Clegg, S.K.4    Squires, L.F.5    Packard, C.J.6
  • 2
    • 0027537239 scopus 로고
    • Hepatic and lipoprotein lipases selectively assayed in postheparin plasma
    • Henderson AD, Richmond W, Elkeles RS (1993) Hepatic and lipoprotein lipases selectively assayed in postheparin plasma. Clin Chem 39:218-223
    • (1993) Clin Chem , vol.39 , pp. 218-223
    • Henderson, A.D.1    Richmond, W.2    Elkeles, R.S.3
  • 3
    • 0028213695 scopus 로고
    • Hepatic lipase may act as a ligand in the uptake of artificial chylomicron remnant-like particles by isolated rat hepatocytes
    • Diard P, Malewiak MI, Lagrange D, Griglio S (1994) Hepatic lipase may act as a ligand in the uptake of artificial chylomicron remnant-like particles by isolated rat hepatocytes. Biochem J 299:889-894
    • (1994) Biochem J , vol.299 , pp. 889-894
    • Diard, P.1    Malewiak, M.I.2    Lagrange, D.3    Griglio, S.4
  • 4
    • 0028966426 scopus 로고
    • The cellular internalization and degradation of hepatic lipase is mediated by low density lipoprotein receptor-related protein and requires cell surface proteoglycans
    • Kounnas MZ, Chappell DA, Wong H, Argraves WS, Strickland DK (1995) The cellular internalization and degradation of hepatic lipase is mediated by low density lipoprotein receptor-related protein and requires cell surface proteoglycans. J Biol Chem 270:9307-9312
    • (1995) J Biol Chem , vol.270 , pp. 9307-9312
    • Kounnas, M.Z.1    Chappell, D.A.2    Wong, H.3    Argraves, W.S.4    Strickland, D.K.5
  • 7
    • 0015796295 scopus 로고
    • Genetic analysis of lipid levels in 176 families and delineation of new inherited disorder, combined hyperlipidemia
    • Goldstein JL, Schrott HG, Hazzard WR, Bierman EL, Motulsky GA (1973) Genetic analysis of lipid levels in 176 families and delineation of new inherited disorder, combined hyperlipidemia. J Clin Invest 52:1544-1568
    • (1973) J Clin Invest , vol.52 , pp. 1544-1568
    • Goldstein, J.L.1    Schrott, H.G.2    Hazzard, W.R.3    Bierman, E.L.4    Motulsky, G.A.5
  • 9
    • 0027415567 scopus 로고
    • Genetics and molecular biology of familial combined hyperlipidemia
    • Kwiterovich PO Jr (1993) Genetics and molecular biology of familial combined hyperlipidemia. Curr Opin Lipidol 4:133-143
    • (1993) Curr Opin Lipidol , vol.4 , pp. 133-143
    • Kwiterovich Jr., P.O.1
  • 10
    • 0028028279 scopus 로고
    • Comparison of risk factors for coronary artery disease in Dresden and Muenster: Results from the DRECAN (Dresden Cardiovascular Risk and Nutrition) study and the PROCAM (Prospective Cardiovascular Muenster) study
    • Jaross W, Assman G, Bergmann S, Schulte H, DRECAN Team (1994) Comparison of risk factors for coronary artery disease in Dresden and Muenster: results from the DRECAN (Dresden Cardiovascular Risk and Nutrition) study and the PROCAM (Prospective Cardiovascular Muenster) study. Eur J Epidemiol 10:307-315
    • (1994) Eur J Epidemiol , vol.10 , pp. 307-315
    • Jaross, W.1    Assman, G.2    Bergmann, S.3    Schulte, H.4
  • 11
    • 9044220896 scopus 로고
    • Differences in risk profile between people from "East" and "West" Germany (DRECAN-PROCAM comparison)
    • Hanefeld M, Jaross W, Dude H (ed) Fischer, Stuttgart
    • Jaross W, Schulte H, Bergmann S, Assmann G, DRACAN Team (1991) Differences in risk profile between people from "East" and "West" Germany (DRECAN-PROCAM comparison). In: Hanefeld M, Jaross W, Dude H (ed) Advancs in lipoprotein and atherosclerosis research, diagnostics and treatment. Fischer, Stuttgart, pp 171-178
    • (1991) Advancs in Lipoprotein and Atherosclerosis Research, Diagnostics and Treatment , pp. 171-178
    • Jaross, W.1    Schulte, H.2    Bergmann, S.3    Assmann, G.4
  • 12
    • 0024284028 scopus 로고
    • A simple salting-out procedure for concentrating DNA from human nucleated cells
    • Miller SA, Dykes DD, Polevsky MF (1989) A simple salting-out procedure for concentrating DNA from human nucleated cells. Nucleic Acids Res 16:1215
    • (1989) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polevsky, M.F.3
  • 13
    • 85016769543 scopus 로고
    • Mutation detection by PCR, GC-clamps, and denaturing gradient gel electrophoresis
    • Myers RM, Sheffield VC, Cox DR (1989) Mutation detection by PCR, GC-clamps, and denaturing gradient gel electrophoresis. PCR Technol 7:71-88
    • (1989) PCR Technol , vol.7 , pp. 71-88
    • Myers, R.M.1    Sheffield, V.C.2    Cox, D.R.3
  • 14
    • 0028936699 scopus 로고
    • TGGE: A screening method for detection of point mutations in the lipoprotein-lipasegen (LPL-gene)
    • Kostka H, Steinke M, Gehrisch S, Jaross W (1995) TGGE: a screening method for detection of point mutations in the lipoprotein-lipasegen (LPL-gene). Klin Lab Diagn 41:37-42
    • (1995) Klin Lab Diagn , vol.41 , pp. 37-42
    • Kostka, H.1    Steinke, M.2    Gehrisch, S.3    Jaross, W.4
  • 15
    • 0024468864 scopus 로고
    • Structure of the human hepatic triglyceride lipase gene
    • Cai S-J, Wong DM, Chen S-H, Chan L (1989) Structure of the human hepatic triglyceride lipase gene. Biochemistry 28: 8966-8971
    • (1989) Biochemistry , vol.28 , pp. 8966-8971
    • Cai, S.-J.1    Wong, D.M.2    Chen, S.-H.3    Chan, L.4
  • 17
    • 0022536510 scopus 로고
    • Deficiency of hepatic lipase activity in post-heparin plasma in familial hyper-alpha-triglyceridemia
    • Carlson LA, Holmquist L, Nilsson-Ehle P (1986) Deficiency of hepatic lipase activity in post-heparin plasma in familial hyper-alpha-triglyceridemia. Acta Med Scand 219:435-447
    • (1986) Acta Med Scand , vol.219 , pp. 435-447
    • Carlson, L.A.1    Holmquist, L.2    Nilsson-Ehle, P.3
  • 19
    • 0026052567 scopus 로고
    • Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency
    • Hegele RA, Little JA, Connelly PW (1991) Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency. Biochem Biophys Res Commun 179:78-84
    • (1991) Biochem Biophys Res Commun , vol.179 , pp. 78-84
    • Hegele, R.A.1    Little, J.A.2    Connelly, P.W.3
  • 21
    • 0028857779 scopus 로고
    • Atherosclerotic disease in marked hyperalphalipoproteinemia. Combined reduction of cholesteryl ester transfer protein and hepatic triglyceride lipase
    • Hirano K, Yamashita S, Kuga Y, Sakai N, Nozaki S, Kihara S, Arai T, Yanagi K, Takami S, Menju M, et al (1995) Atherosclerotic disease in marked hyperalphalipoproteinemia. Combined reduction of cholesteryl ester transfer protein and hepatic triglyceride lipase. Arterioscler Thromb Vasc Biol 15:1849-1856
    • (1995) Arterioscler Thromb Vasc Biol , vol.15 , pp. 1849-1856
    • Hirano, K.1    Yamashita, S.2    Kuga, Y.3    Sakai, N.4    Nozaki, S.5    Kihara, S.6    Arai, T.7    Yanagi, K.8    Takami, S.9    Menju, M.10
  • 22
    • 0027031721 scopus 로고
    • Human hepatic lipase mutations and polymorphisms
    • Hegele RA, Tu L, Connelly PW (1992) Human hepatic lipase mutations and polymorphisms. Hum Mutat 1:320-324
    • (1992) Hum Mutat , vol.1 , pp. 320-324
    • Hegele, R.A.1    Tu, L.2    Connelly, P.W.3
  • 23
    • 0028177427 scopus 로고
    • Molecular characterization of human hepatic lipase deficiency - In vitro expression of two naturally occurring mutations
    • Durstenfeld A, Benzeev O, Reue K, Stahnke G, Doolittle MH (1994) Molecular characterization of human hepatic lipase deficiency - in vitro expression of two naturally occurring mutations. Arterioscler Thromb 14:381-385
    • (1994) Arterioscler Thromb , vol.14 , pp. 381-385
    • Durstenfeld, A.1    Benzeev, O.2    Reue, K.3    Stahnke, G.4    Doolittle, M.H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.