메뉴 건너뛰기




Volumn 18, Issue 4, 1998, Pages 591-598

Molecular genetic study of finns with hypoalphalipoproteinemia and hyperalphalipoproteinemia: A novel Gly230Arg mutation (LCAT(Fin)) of lecithin:cholesterol acyltransferase (LCAT) accounts for 5% of cases with very low serum HDL cholesterol levels

Author keywords

Cholesterol ester transfer protein; HDL cholesterol; LCAT deficiency; Lipoprotein lipase; Mutation

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE;

EID: 0031967382     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.ATV.18.4.591     Document Type: Article
Times cited : (32)

References (20)
  • 1
    • 0024449985 scopus 로고
    • High-density lipoprotein: The clinical implications of recent studies
    • Gordon DJ, Rifkind BM. High-density lipoprotein: the clinical implications of recent studies. N Engl J Med. 1989;321:1311-1316.
    • (1989) N Engl J Med , vol.321 , pp. 1311-1316
    • Gordon, D.J.1    Rifkind, B.M.2
  • 2
    • 0001474759 scopus 로고
    • Familial disorders of high density lipoprotein metabolism
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York, NY: McGraw-Hill
    • Breslow JL. Familial disorders of high density lipoprotein metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York, NY: McGraw-Hill; 1995:2031-2052.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease. 7th Ed. , pp. 2031-2052
    • Breslow, J.L.1
  • 3
    • 0027537270 scopus 로고
    • High density lipoproteins, reverse transport of cholesterol and coronary artery disease: Insights from mutations
    • Assmann G, von Eckardstein A, Funke H. High density lipoproteins, reverse transport of cholesterol and coronary artery disease: insights from mutations. Circulation. 1993;87(suppl III):III-28-III-34.
    • (1993) Circulation , vol.87 , Issue.3 SUPPL.
    • Assmann, G.1    Von Eckardstein, A.2    Funke, H.3
  • 5
    • 0029046821 scopus 로고
    • The low down on lipoprotein lipase
    • Funke H, Assmann G. The low down on lipoprotein lipase. Nat Genet. 1995;10:6-7.
    • (1995) Nat Genet , vol.10 , pp. 6-7
    • Funke, H.1    Assmann, G.2
  • 6
    • 84907041541 scopus 로고
    • Familial plasma lecithin:cholesterol acyltransferase deficiency
    • Norum KR, Gjone E. Familial plasma lecithin:cholesterol acyltransferase deficiency. Scand J Clin Lab Invest. 1967;20:231-243.
    • (1967) Scand J Clin Lab Invest , vol.20 , pp. 231-243
    • Norum, K.R.1    Gjone, E.2
  • 7
    • 0022341641 scopus 로고
    • Evidence for deficiency of high density lipoprotein lecithin:cholesterol acyltransferase activity (α-LCAT) in fish eye disease
    • Carlson LA, Holmquist L. Evidence for deficiency of high density lipoprotein lecithin:cholesterol acyltransferase activity (α-LCAT) in fish eye disease. Acta Med Scand. 1985;218:189-196.
    • (1985) Acta Med Scand , vol.218 , pp. 189-196
    • Carlson, L.A.1    Holmquist, L.2
  • 9
    • 0028956239 scopus 로고
    • Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase (LCAT) deficiency
    • Miettinen H, Gylling H, Ulmanen I, Miettinen TA, Kontula K. Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase (LCAT) deficiency. Arterioscler Thromb Vasc Biol. 1995;15:1-8.
    • (1995) Arterioscler Thromb Vasc Biol , vol.15 , pp. 1-8
    • Miettinen, H.1    Gylling, H.2    Ulmanen, I.3    Miettinen, T.A.4    Kontula, K.5
  • 11
    • 0015858194 scopus 로고
    • Hereditary diseases in Finland: Rare flora in rare soil
    • Norio R, Nevanlinna HR, Perheentupa J. Hereditary diseases in Finland: rare flora in rare soil. Ann Clin Res. 1973;5:109-141.
    • (1973) Ann Clin Res , vol.5 , pp. 109-141
    • Norio, R.1    Nevanlinna, H.R.2    Perheentupa, J.3
  • 12
    • 0015436884 scopus 로고
    • The Finnish population structure: A genetic and genealogical study
    • Nevanlinna HR. The Finnish population structure: a genetic and genealogical study. Hereditas. 1972;71:195-236.
    • (1972) Hereditas , vol.71 , pp. 195-236
    • Nevanlinna, H.R.1
  • 13
    • 0024352311 scopus 로고
    • The Finnish type of LDL receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxyterminal part of the receptor and creates an internalization-defective phenotype
    • Aalto-Setälä K, Helve E, Kovanen PT, Kontula K. The Finnish type of LDL receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxyterminal part of the receptor and creates an internalization-defective phenotype. J Clin Invest. 1989;84:499-505.
    • (1989) J Clin Invest , vol.84 , pp. 499-505
    • Aalto-Setälä, K.1    Helve, E.2    Kovanen, P.T.3    Kontula, K.4
  • 14
    • 0026686162 scopus 로고
    • The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland
    • Koivisto U-M, Turtola H, Aalto-Setälä K, Top B, Frants RR, Kovanen PT, Syvänen A-C, Kontula K. The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland. J Clin Invest. 1992;90:219-228.
    • (1992) J Clin Invest , vol.90 , pp. 219-228
    • Koivisto, U.-M.1    Turtola, H.2    Aalto-Setälä, K.3    Top, B.4    Frants, R.R.5    Kovanen, P.T.6    Syvänen, A.-C.7    Kontula, K.8
  • 15
    • 0010607277 scopus 로고
    • The effect of vitamin E and beta carotene on the incidence of lung cancer and other cancers in male smokers
    • The ATBC cancer prevention study group. The effect of vitamin E and beta carotene on the incidence of lung cancer and other cancers in male smokers. N Engl J Med. 1994;330:1029-1035.
    • (1994) N Engl J Med , vol.330 , pp. 1029-1035
  • 16
    • 0024409196 scopus 로고
    • Designed diagnostic restriction fragment length polymorphisms for the detection of point mutations in ras oncogenes
    • Kumar R, Dunn L. Designed diagnostic restriction fragment length polymorphisms for the detection of point mutations in ras oncogenes. Oncogene Res. 1989;4:156-159.
    • (1989) Oncogene Res , vol.4 , pp. 156-159
    • Kumar, R.1    Dunn, L.2
  • 17
    • 0026207465 scopus 로고
    • PCR-SSCP: A simple and sensitive method for detection of mutations in the genomic DNA
    • Hayashi K. PCR-SSCP: a simple and sensitive method for detection of mutations in the genomic DNA. PCR Methods and Applications. 1991;1:34-38.
    • (1991) PCR Methods and Applications , vol.1 , pp. 34-38
    • Hayashi, K.1
  • 18
    • 0023045642 scopus 로고
    • Human lecithin-cholesterol acyltransferase gene: Complete gene sequence and sites of expression
    • McLean J, Wion K, Drayna D, Fielding C, Lawn R. Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression. Nucleic Acids Res. 1986;14:9397-9406.
    • (1986) Nucleic Acids Res , vol.14 , pp. 9397-9406
    • McLean, J.1    Wion, K.2    Drayna, D.3    Fielding, C.4    Lawn, R.5
  • 19
    • 0025325983 scopus 로고
    • The 'megaprimer' method of site-directed mutagenesis
    • Sarkar G, Sommer S. The 'megaprimer' method of site-directed mutagenesis. Biotechniques. 1990;8:404-407.
    • (1990) Biotechniques , vol.8 , pp. 404-407
    • Sarkar, G.1    Sommer, S.2
  • 20
    • 0022484967 scopus 로고
    • Cold labeled substrate and estimation of cholesterol esterification rate in lecithin cholesterol acyltransferase radioassay
    • Dobiasova M, Schutzova M. Cold labeled substrate and estimation of cholesterol esterification rate in lecithin cholesterol acyltransferase radioassay. Physiol Bohemoslov. 1986;35:319-327.
    • (1986) Physiol Bohemoslov , vol.35 , pp. 319-327
    • Dobiasova, M.1    Schutzova, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.