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Volumn 6, Issue 3, 2012, Pages 199-207

Clinical use of genetic typing in human lipid disorders

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN; APOLIPOPROTEIN E; LOW DENSITY LIPOPROTEIN CHOLESTEROL; VERY LOW DENSITY LIPOPROTEIN CHOLESTEROL;

EID: 84861745445     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2012.02.007     Document Type: Review
Times cited : (3)

References (25)
  • 1
    • 0018590304 scopus 로고
    • The LDL receptor locus and the genetics of familial hypercholesterolemia
    • J.L. Goldstein, and M.S. Brown The LDL receptor locus and the genetics of familial hypercholesterolemia Annu Rev Genet 13 1979 259 289
    • (1979) Annu Rev Genet , vol.13 , pp. 259-289
    • Goldstein, J.L.1    Brown, M.S.2
  • 2
    • 37249029830 scopus 로고    scopus 로고
    • Genetic heterogeneity of autosomal dominant hypercholesterolemia
    • DOI 10.1111/j.1399-0004.2007.00915.x
    • M. Varret, M. Abifadel, J.P. Rabes, and C. Boileau Genetic heterogeneity of autosomal dominant hypercholesterolemia Clin Genet 73 2008 1 13 (Pubitemid 350263516)
    • (2008) Clinical Genetics , vol.73 , Issue.1 , pp. 1-13
    • Varret, M.1    Abifadel, M.2    Rabes, J.-P.3    Boileau, C.4
  • 4
    • 38049156050 scopus 로고    scopus 로고
    • Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: Results of a family and DNA-based screening
    • F. Campagna, F. Martino, M. Bifolco, and A. Montali Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening Atherosclerosis 196 2008 356 364
    • (2008) Atherosclerosis , vol.196 , pp. 356-364
    • Campagna, F.1    Martino, F.2    Bifolco, M.3    Montali, A.4
  • 5
    • 0026474434 scopus 로고
    • Familial defective apolipoprotein B-100: Mild hypercholesterolaemia without atherosclerosis in a homozygous patient [letter]
    • W. Marz, C. Ruzicka, T. Pohl, K.H. Usadel, and W. Gross Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient [letter] Lancet 1992 340
    • (1992) Lancet , pp. 340
    • Marz, W.1    Ruzicka, C.2    Pohl, T.3    Usadel, K.H.4    Gross, W.5
  • 6
    • 0033058362 scopus 로고    scopus 로고
    • Evidence for a third genetic locus causing familial hypercholesterolemia: A non-LDLR, non-APOB kindred
    • L. Haddad, I.N.M. Day, S. Hunt, R.R. Williams, S.E. Humphries, and P.N. Hopkins Evidence for a third genetic locus causing familial hypercholesterolaemia: a non-LDLR, non-apoB kindred J Lipid Res 40 1999 1113 1122 (Pubitemid 29287882)
    • (1999) Journal of Lipid Research , vol.40 , Issue.6 , pp. 1113-1122
    • Haddad, L.1    Day, I.N.M.2    Hunt, S.3    Williams, R.R.4    Humphries, S.E.5    Hopkins, P.N.6
  • 7
    • 33846679386 scopus 로고    scopus 로고
    • Molecular biology of PCSK9: Its role in LDL metabolism
    • DOI 10.1016/j.tibs.2006.12.008, PII S096800040600332X
    • J.D. Horton, J.C. Cohen, and H.H. Hobbs Molecular biology of PCSK9: its role in LDL metabolism Trends Biochem Sci 32 2007 71 77 (Pubitemid 46199197)
    • (2007) Trends in Biochemical Sciences , vol.32 , Issue.2 , pp. 71-77
    • Horton, J.D.1    Cohen, J.C.2    Hobbs, H.H.3
  • 8
    • 66349126280 scopus 로고    scopus 로고
    • PCSK9: A convertase that coordinates LDL catabolism
    • J.D. Horton, J.C. Cohen, and H.H. Hobbs PCSK9: a convertase that coordinates LDL catabolism J Lipid Res 50 2009 S172 S177
    • (2009) J Lipid Res , vol.50
    • Horton, J.D.1    Cohen, J.C.2    Hobbs, H.H.3
  • 9
    • 71749110776 scopus 로고    scopus 로고
    • Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9
    • S.E. Humphries, R.D. Neely, and R.A. Whittall Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9 Clin Chem 55 2009 2153 2161
    • (2009) Clin Chem , vol.55 , pp. 2153-2161
    • Humphries, S.E.1    Neely, R.D.2    Whittall, R.A.3
  • 12
    • 73449138232 scopus 로고    scopus 로고
    • Cascade screening for familial hypercholesterolaemia and its effectiveness in the prevention of vascular disease
    • K. Herman, C. Van Heyningen, and D. Wile Cascade screening for familial hypercholesterolaemia and its effectiveness in the prevention of vascular disease Br J Diabet Vasc Dis 9 2009 171 174
    • (2009) Br J Diabet Vasc Dis , vol.9 , pp. 171-174
    • Herman, K.1    Van Heyningen, C.2    Wile, D.3
  • 13
    • 77955438579 scopus 로고    scopus 로고
    • Gene dosage of the common variant 9p21 predicts severity of coronary artery disease
    • S. Dandona, A.F. Stewart, and L. Chen Gene dosage of the common variant 9p21 predicts severity of coronary artery disease J Am Coll Cardiol 56 2010 479 486
    • (2010) J Am Coll Cardiol , vol.56 , pp. 479-486
    • Dandona, S.1    Stewart, A.F.2    Chen, L.3
  • 14
    • 0022971151 scopus 로고
    • Apolipoprotein B metabolism in subjects with deficiency of apolipoproteins CIII and AI. Evidence that apolipoprotein CIII inhibits catabolism of triglyceride-rich lipoproteins by lipoprotein lipase in vivo
    • H.N. Ginsberg, N.A. Le, and I.J. Goldberg Apolipoprotein B metabolism in subjects with deficiency of apolipoproteins CIII and AI. Evidence that apoCIII inhibits catabolism of triglyceride-rich lipoproteins by lipoprotein lipase in vivo J Clin Invest 78 1986 1287 1295 (Pubitemid 17181567)
    • (1986) Journal of Clinical Investigation , vol.78 , Issue.5 , pp. 1287-1295
    • Ginsberg, H.N.1    Le, N.A.2    Goldberg, I.J.3
  • 15
    • 77951490605 scopus 로고    scopus 로고
    • Apolipoprotein C-III and the metabolic basis for hypertriglyceridemia and the dense low-density lipoprotein phenotype
    • C. Zheng, C. Khoo, J. Furtado, and F.M. Sacks Apolipoprotein C-III and the metabolic basis for hypertriglyceridemia and the dense low-density lipoprotein phenotype Circulation 121 2010 1722 1734
    • (2010) Circulation , vol.121 , pp. 1722-1734
    • Zheng, C.1    Khoo, C.2    Furtado, J.3    Sacks, F.M.4
  • 16
    • 58149262866 scopus 로고    scopus 로고
    • A null mutation in humanAPOC3 confers a favorable plasma lipid profile and apparent cardioprotection
    • T. Pollin, C.M. Damcott, and H. Shen A null mutation in humanAPOC3 confers a favorable plasma lipid profile and apparent cardioprotection Science 322 2008 1702 1705
    • (2008) Science , vol.322 , pp. 1702-1705
    • Pollin, T.1    Damcott, C.M.2    Shen, H.3
  • 18
    • 0032076553 scopus 로고    scopus 로고
    • Remnant-like particle cholesterol levels in patients with dysbetalipoproteinemia or coronary artery disease
    • DOI 10.1016/S0002-9343(98)00089-8, PII S0002934398000898
    • S. Devaraj, G. Vega, and R. Lange Remnant-like particle cholesterol levels in patients with dysbetalipoproteinemia or coronary artery disease Am J Med 104 1998 445 450 (Pubitemid 28274848)
    • (1998) American Journal of Medicine , vol.104 , Issue.5 , pp. 445-450
    • Devaraj, S.1    Vega, G.2    Lange, R.3    Grundy, S.M.4    Jialal, I.5
  • 19
    • 25144449725 scopus 로고    scopus 로고
    • Polymorphisms in the apolipoprotein A5 (APO A5) gene and type III hyperlipidemia
    • DOI 10.1111/j.1399-0004.2005.00510.x
    • D. Evans, U. Seedorf, and F.U. Beil Polymorphisms in the apolipoprotein A5 (APOA5) gene and type III hyperlipidemia Clin Genet 68 2005 369 372 (Pubitemid 41341616)
    • (2005) Clinical Genetics , vol.68 , Issue.4 , pp. 369-372
    • Evans, D.1    Seedorf, U.2    Beil, F.U.3
  • 20
    • 0021271659 scopus 로고
    • Clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency
    • E.J. Schaefer The clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency Arteriosclerosis 4 1984 303 322 (Pubitemid 14092675)
    • (1984) Arteriosclerosis , vol.4 , Issue.4 , pp. 303-322
    • Schaefer, E.J.1
  • 21
    • 82555192222 scopus 로고    scopus 로고
    • Genomics of cardiovascular disease
    • C.J. O'Donnell, and E.G. Nabel Genomics of cardiovascular disease N Engl J Med 365 2011 2098 2109
    • (2011) N Engl J Med , vol.365 , pp. 2098-2109
    • O'Donnell, C.J.1    Nabel, E.G.2
  • 24
    • 80051672006 scopus 로고    scopus 로고
    • Familiar transmission of coronary heart disease: A cohort study of 80,214 Swedish adoptees linked to their biological and adoptive parents
    • K. Sundquist, M. Winkleby, and X. Li Familiar transmission of coronary heart disease: a cohort study of 80,214 Swedish adoptees linked to their biological and adoptive parents Am Heart J 162 2011 317 323
    • (2011) Am Heart J , vol.162 , pp. 317-323
    • Sundquist, K.1    Winkleby, M.2    Li, X.3
  • 25
    • 78049314943 scopus 로고    scopus 로고
    • A multilocus genetic risk score for coronary heart disease: Case-control and prospective cohort analyses
    • S. Ripatti, E. Tikkanen, and M. Orho-Melander A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses Lancet 376 2010 1393 1400
    • (2010) Lancet , vol.376 , pp. 1393-1400
    • Ripatti, S.1    Tikkanen, E.2    Orho-Melander, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.