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Volumn 130, Issue 1-2, 1997, Pages 153-160

A G+1 to C mutation in a donor splice site of intron 2 in the apolipoprotein (apo) C-II gene in a patient with apo C-II deficiency. A possible interaction between apo C-II deficiency and apo E4 in a severely hypertriglyceridemic patient

Author keywords

apolipoprotein C II; apolipoprotein E4; donor splice site; exon skipping; hypertriglyceridemia

Indexed keywords

APOLIPOPROTEIN;

EID: 0030931322     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(96)06061-3     Document Type: Article
Times cited : (22)

References (36)
  • 1
    • 0343783289 scopus 로고
    • Apolipoprotein C-II deficiency
    • Scriver CR, Beaudet AL, Sly WS, Valle D. (eds). New York:McGraw-Hill
    • Brunzell JD. Apolipoprotein C-II deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D. (eds). The Metabolic Basis of Inherited Disease, 6th edn. New York:McGraw-Hill, 1989;1172.
    • (1989) The Metabolic Basis of Inherited Disease, 6th Edn. , pp. 1172
    • Brunzell, J.D.1
  • 2
    • 0026647688 scopus 로고
    • Hypertriglyceridemia due to genetic defects in lipoprotein lipase and apolipoprotein C-II
    • Fojo SS, Brewer HB. Hypertriglyceridemia due to genetic defects in lipoprotein lipase and apolipoprotein C-II. J Intern Med 1992;231:669.
    • (1992) J Intern Med , vol.231 , pp. 669
    • Fojo, S.S.1    Brewer, H.B.2
  • 3
    • 0021141091 scopus 로고
    • Isolation and sequence of a human apolipoprotein CII cDNA clone and its use to isolate and map to human chromosome 19 the gene for apolipoprotein CII
    • Jackson CL, Bruns GAP, Breslow JL. Isolation and sequence of a human apolipoprotein CII cDNA clone and its use to isolate and map to human chromosome 19 the gene for apolipoprotein CII. Proc Natl Acad Sci USA 1984;81:2945.
    • (1984) Proc Natl Acad Sci USA , vol.81 , pp. 2945
    • Jackson, C.L.1    Bruns, G.A.P.2    Breslow, J.L.3
  • 5
    • 0023178382 scopus 로고
    • The human apolipoprotein C-II gene sequence contains a novel chromosome 19-specific minisatellite in its third intron
    • Das HK, Jackson CL, Miller DA, Leff T, Breslow JL. The human apolipoprotein C-II gene sequence contains a novel chromosome 19-specific minisatellite in its third intron. J Biol Chem 1987;262:4787.
    • (1987) J Biol Chem , vol.262 , pp. 4787
    • Das, H.K.1    Jackson, C.L.2    Miller, D.A.3    Leff, T.4    Breslow, J.L.5
  • 6
  • 8
    • 0027053075 scopus 로고
    • Molecular basis of familial chylomicronemia: Mutations in the lipoprotein lipase and apolipoprotein C-II genes
    • Reina M, Brunzell JD, Deeb SS. Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes. J Lipid Res 1992;33:1823.
    • (1992) J Lipid Res , vol.33 , pp. 1823
    • Reina, M.1    Brunzell, J.D.2    Deeb, S.S.3
  • 11
    • 0025228923 scopus 로고
    • Apolipoprotein e and lipoprotein lipase secreted from human monocyte-derived macrophages modulate very low density lipoprotein uptake
    • Ishibashi S, Yamada N, Shimano H, Mori N, Mokuno H, Gotohda T, Kawakami M, Murase T, Takaku F. Apolipoprotein E and lipoprotein lipase secreted from human monocyte-derived macrophages modulate very low density lipoprotein uptake. J Biol Chem 1990;265:3040.
    • (1990) J Biol Chem , vol.265 , pp. 3040
    • Ishibashi, S.1    Yamada, N.2    Shimano, H.3    Mori, N.4    Mokuno, H.5    Gotohda, T.6    Kawakami, M.7    Murase, T.8    Takaku, F.9
  • 13
    • 0016702119 scopus 로고
    • Inhibition of lipoprotein lipase by uremic plasma. A possible cause of hypertriglyceridemia
    • Murase T, Cattran DC, Rubinstein B, Steiner G. Inhibition of lipoprotein lipase by uremic plasma. A possible cause of hypertriglyceridemia. Metabolism 1975;24:1279.
    • (1975) Metabolism , vol.24 , pp. 1279
    • Murase, T.1    Cattran, D.C.2    Rubinstein, B.3    Steiner, G.4
  • 14
    • 0024388919 scopus 로고
    • Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers
    • Norman AM, Floyd JL, Meredith AL, Harper PS. Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers. J Med Genet 1989;26:750.
    • (1989) J Med Genet , vol.26 , pp. 750
    • Norman, A.M.1    Floyd, J.L.2    Meredith, A.L.3    Harper, P.S.4
  • 15
    • 0025793709 scopus 로고
    • DNA polymorphism and linkage disequilibrium within the apolipoprotein CII locus on human chromosome 19
    • MacKenzie AE, MacLeod HL, Leblond SC, Monteith N, Lahey D, Korneluk RG. DNA polymorphism and linkage disequilibrium within the apolipoprotein CII locus on human chromosome 19. Hum Hered 1991;41:188.
    • (1991) Hum Hered , vol.41 , pp. 188
    • MacKenzie, A.E.1    MacLeod, H.L.2    Leblond, S.C.3    Monteith, N.4    Lahey, D.5    Korneluk, R.G.6
  • 16
    • 0025847428 scopus 로고
    • Variation within intron 3 of the apolipoprotein CII gene
    • Hegele RA, Tu L. Variation within intron 3 of the apolipoprotein CII gene. Nucl Acid Res 1991;19:3162.
    • (1991) Nucl Acid Res , vol.19 , pp. 3162
    • Hegele, R.A.1    Tu, L.2
  • 17
    • 0024582686 scopus 로고
    • Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
    • Weber J L, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388.
    • (1989) Am J Hum Genet , vol.44 , pp. 388
    • Weber, J.L.1    May, P.E.2
  • 18
    • 0025257612 scopus 로고
    • Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hha I
    • Hixon JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hha I. J Lipid Res 1990;31:545.
    • (1990) J Lipid Res , vol.31 , pp. 545
    • Hixon, J.E.1    Vernier, D.T.2
  • 19
    • 0024214076 scopus 로고
    • Genetic studies of human apolipoproteins. V. A rapid procedure to screen apolipoprotein E polymorphism
    • Kamboh MI, Ferrell RE, Kottke B. Genetic studies of human apolipoproteins. V. a rapid procedure to screen apolipoprotein E polymorphism. J Lipid Res 1988;29:1535.
    • (1988) J Lipid Res , vol.29 , pp. 1535
    • Kamboh, M.I.1    Ferrell, R.E.2    Kottke, B.3
  • 21
    • 0026865130 scopus 로고
    • A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism
    • Parkinson DB, Thakker RV. A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nature Genet 1992;1:149.
    • (1992) Nature Genet , vol.1 , pp. 149
    • Parkinson, D.B.1    Thakker, R.V.2
  • 29
    • 0027223301 scopus 로고
    • An apolipoprotein CIII haplotype protective against hypertriglyceridemia is specified by promotor and 3′ untranslated region polymorphisms
    • Dammerman M, Sandkuijl LA, Halaas JL, Chung W, Breslow JL. An apolipoprotein CIII haplotype protective against hypertriglyceridemia is specified by promotor and 3′ untranslated region polymorphisms. Proc Natl Acad Sci USA 1993;90:4562.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 4562
    • Dammerman, M.1    Sandkuijl, L.A.2    Halaas, J.L.3    Chung, W.4    Breslow, J.L.5
  • 30
    • 0029949418 scopus 로고    scopus 로고
    • Hypertriglyceridemia and low HDL-cholesterol in Japanese patients with non-insulin-dependent diabetes mellitus
    • Okubo M, Murase T. Hypertriglyceridemia and low HDL-cholesterol in Japanese patients with non-insulin-dependent diabetes mellitus. Diabetes 1996;45:S123.
    • (1996) Diabetes , vol.45
    • Okubo, M.1    Murase, T.2
  • 31
    • 0001575895 scopus 로고
    • Type III hyperlipoproteinemia (Dysbetalipoproteinemia): The role of apolipoprotein E in normal and abnormal lipoprotein metabolism
    • Scriver CR, Beaudet AL, Sly WS, Valle D. (eds). New York:McGraw-Hill
    • Mahley RW, Rail Jr. SC. Type III hyperlipoproteinemia (Dysbetalipoproteinemia): the role of apolipoprotein E in normal and abnormal lipoprotein metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D. (eds). The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York:McGraw-Hill, 1995; 1953.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Edn. , pp. 1953
    • Mahley, R.W.1    Rail S.C., Jr.2
  • 32
    • 0028829733 scopus 로고
    • Apolipoprotein E and lipoprotein lipase co-ordinately enhance binding and uptake of chylomicrons by human hepatocytes
    • Mann WA, Meyer N, Weber W, Rinninger F, Greten H, Beisiegel U. Apolipoprotein E and lipoprotein lipase co-ordinately enhance binding and uptake of chylomicrons by human hepatocytes. Eur J Clin Invest 1995;25:880.
    • (1995) Eur J Clin Invest , vol.25 , pp. 880
    • Mann, W.A.1    Meyer, N.2    Weber, W.3    Rinninger, F.4    Greten, H.5    Beisiegel, U.6
  • 35
    • 0028230993 scopus 로고
    • High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: Possible association with apolipoprotein E2 isoform
    • Ma Y, Ooi TC, Liu MS, Zhang H, McPherson R, Edwards AL, Forsythe IJ, Frohlich J, Brunzell JD, Hayden MR. High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform. J Lipid Res 1994;35:1066.
    • (1994) J Lipid Res , vol.35 , pp. 1066
    • Ma, Y.1    Ooi, T.C.2    Liu, M.S.3    Zhang, H.4    McPherson, R.5    Edwards, A.L.6    Forsythe, I.J.7    Frohlich, J.8    Brunzell, J.D.9    Hayden, M.R.10
  • 36
    • 0023522662 scopus 로고
    • St. Michael: Familial apolipoprotein CII deficiency associated with premature vascular disease
    • St. Michael: familial apolipoprotein CII deficiency associated with premature vascular disease. J Clin Invest 1987; 80:1597.
    • (1987) J Clin Invest , vol.80 , pp. 1597
    • Connelly, P.W.1    Maguire, G.F.2    Little, J.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.