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Volumn 37, Issue 12, 1996, Pages 2599-2607

A single nucleotide substitution in the promoter region of the apolipoprotein C-II gene identified in individuals with chylomicronemia

Author keywords

BsaJ1 RFLP; hypertriglyceridemia; lipolysis; transcription factor

Indexed keywords

CHYLOMICRON; DNA FRAGMENT; TRANSCRIPTION FACTOR;

EID: 0030475812     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (17)

References (22)
  • 1
    • 0014866029 scopus 로고
    • Role of specific glycopeptides of human serum lipoproteins in the activation of lipoprotein lipase
    • Havel, R. J., V. G. Shore, B. Shore, and D. M. Bier. 1970. Role of specific glycopeptides of human serum lipoproteins in the activation of lipoprotein lipase. Circ. Res. 27: 595-600.
    • (1970) Circ. Res. , vol.27 , pp. 595-600
    • Havel, R.J.1    Shore, V.G.2    Shore, B.3    Bier, D.M.4
  • 3
    • 0002330773 scopus 로고
    • Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome
    • C. R. Scriver, A. L. Beaudet, W. S. Sly, D. Valle, editors. McGraw-Hill, New York
    • Brunzell, J.D. 1989. Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. In The Metabolic Basis of Inherited Disease. Sixth edition. C. R. Scriver, A. L. Beaudet, W. S. Sly, D. Valle, editors. McGraw-Hill, New York: 1165-1180.
    • (1989) The Metabolic Basis of Inherited Disease. Sixth Edition , pp. 1165-1180
    • Brunzell, J.D.1
  • 4
    • 0026647688 scopus 로고
    • Hypertriglyceridemia due to genetic defects in lipoprotein lipase and apolipoprotein C-II
    • Fojo, S. S., and H. B. Brewer. 1992. Hypertriglyceridemia due to genetic defects in lipoprotein lipase and apolipoprotein C-II. J. Intern. Med. 231: 669-677.
    • (1992) J. Intern. Med. , vol.231 , pp. 669-677
    • Fojo, S.S.1    Brewer, H.B.2
  • 5
    • 0023178382 scopus 로고
    • The human apolipoprotein C-II gene sequence contains a novel chromosome 19-specific minisatellite in its third intron
    • Das, H. K., C. L. Jackson, D. A. Miller, T. Leff, and J. L. Breslow. 1987. The human apolipoprotein C-II gene sequence contains a novel chromosome 19-specific minisatellite in its third intron. J. Biol. Chem. 262: 4787-4793.
    • (1987) J. Biol. Chem. , vol.262 , pp. 4787-4793
    • Das, H.K.1    Jackson, C.L.2    Miller, D.A.3    Leff, T.4    Breslow, J.L.5
  • 7
    • 0023158487 scopus 로고
    • The human preproapolipoprotein C-II gene. Complete nucleic acid sequence and genomic organization
    • Fojo, S. S., S. W. Law, and H. B. Brewer, Jr. 1987. The human preproapolipoprotein C-II gene. Complete nucleic acid sequence and genomic organization. FEBS Lett. 213: 221-226.
    • (1987) FEBS Lett. , vol.213 , pp. 221-226
    • Fojo, S.S.1    Law, S.W.2    Brewer Jr., H.B.3
  • 12
    • 0025367102 scopus 로고
    • Identification of the mutation responsible for a case of plasmatic apolipoprotein CII deficiency (apo CII-Bari)
    • Crecchio, C., A. Capurso, and G. Pepe. 1990. Identification of the mutation responsible for a case of plasmatic apolipoprotein CII deficiency (apo CII-Bari). Biochem. Biophys. Res. Commun. 168: 1118-1127.
    • (1990) Biochem. Biophys. Res. Commun. , vol.168 , pp. 1118-1127
    • Crecchio, C.1    Capurso, A.2    Pepe, G.3
  • 13
    • 0026065376 scopus 로고
    • No severe bottleneck during human evolution: Evidence from two apolipoprotein C-II deficiency alleles
    • Xiong, W., W. H. Li, I. Posner, T. Yamamura, A. Yamamoto, A. M. Gotto, and L. Chan. 1991. No severe bottleneck during human evolution: evidence from two apolipoprotein C-II deficiency alleles. Am. J. Hum. Genet. 48: 383-389.
    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 383-389
    • Xiong, W.1    Li, W.H.2    Posner, I.3    Yamamura, T.4    Yamamoto, A.5    Gotto, A.M.6    Chan, L.7
  • 14
    • 0026611281 scopus 로고
    • Paris2: A premature termination mutation in the signal peptide of apoC-II resulting in the familial chylomicronemia syndrome
    • Paris2: a premature termination mutation in the signal peptide of apoC-II resulting in the familial chylomicronemia syndrome. J. Lipid Res. 33: 361-367.
    • (1992) J. Lipid Res. , vol.33 , pp. 361-367
    • Parrott, C.L.1    Alsayed, N.2    Rebourcet, R.3    Santamarina-Fojo, S.4
  • 16
    • 0023522662 scopus 로고
    • St. Michael: Familial apolipoprotein C-II deficiency associated with premature vascular disease
    • St. Michael: familial apolipoprotein C-II deficiency associated with premature vascular disease. J. Clin. Invest. 80: 1597-1606.
    • (1987) J. Clin. Invest. , vol.80 , pp. 1597-1606
    • Connelly, P.W.1    Maguire, G.F.2    Little, J.A.3
  • 18
    • 33745026603 scopus 로고
    • The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum
    • Havel, R., H. Eder, and J. Bragdon. 1955. The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. J. Clin. Invest. 34: 1345-1353.
    • (1955) J. Clin. Invest. , vol.34 , pp. 1345-1353
    • Havel, R.1    Eder, H.2    Bragdon, J.3
  • 19
    • 0023723480 scopus 로고
    • Analysis of human apolipoproteins C by isoelectric focusing in immobilized pH gradients
    • Haase, R., I. Menke-Möllers, and K. Oette. 1988. Analysis of human apolipoproteins C by isoelectric focusing in immobilized pH gradients. Electrophoresis. 9: 569-575.
    • (1988) Electrophoresis , vol.9 , pp. 569-575
    • Haase, R.1    Menke-Möllers, I.2    Oette, K.3
  • 20
    • 0026576031 scopus 로고
    • Studies on an apolipoprotein C-II variant occurring in Caucasians
    • Menke-Möllers, I. J. Kurth, and K. Oette. 1992. Studies on an apolipoprotein C-II variant occurring in Caucasians. Electrophoresis. 13: 244-251.
    • (1992) Electrophoresis , vol.13 , pp. 244-251
    • Menke-Möllers, I.1    Kurth, J.2    Oette, K.3
  • 21
    • 0021100690 scopus 로고
    • Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei
    • Dignam, J. D., R. M. Lebovitz and R. G. Roeder. 1983. Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei. Nucleic Acids Res. 11: 1475-1489.
    • (1983) Nucleic Acids Res. , vol.11 , pp. 1475-1489
    • Dignam, J.D.1    Lebovitz, R.M.2    Roeder, R.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.