메뉴 건너뛰기




Volumn 123, Issue 11, 2011, Pages 1167-1173

Molecular basis of autosomal dominant hypercholesterolemia: Assessment in a large cohort of hypercholesterolemic children

Author keywords

familial hypercholesterolemia; genotype; pediatrics; phenotype

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

EID: 79953066017     PISSN: 00097322     EISSN: 15244539     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.110.979450     Document Type: Article
Times cited : (86)

References (28)
  • 1
    • 0037541585 scopus 로고    scopus 로고
    • A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia
    • DOI 10.1016/S0021-9150(02)00330-1, PII S0021915002003301
    • Marks D, Thorogood M, Neil HA, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis. 2003;168:1-14. (Pubitemid 36559596)
    • (2003) Atherosclerosis , vol.168 , Issue.1 , pp. 1-14
    • Marks, D.1    Thorogood, M.2    Neil, H.A.W.3    Humphries, S.E.4
  • 2
    • 0014693152 scopus 로고
    • Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states
    • Slack J. Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. Lancet. 1969;2:1380-1382.
    • (1969) Lancet , vol.2 , pp. 1380-1382
    • Slack, J.1
  • 4
    • 0017107465 scopus 로고
    • Heterozygous familial hypercholesterolemia: Failure of normal allele to compensate for mutant allele at a regulated genetic locus
    • Goldstein JL, Sobhani MK, Faust JR, Brown MS. Heterozygous familial hypercholesterolemia: failure of normal allele to compensate for mutant allele at a regulated genetic locus. Cell. 1976;9:195-203.
    • (1976) Cell , vol.9 , pp. 195-203
    • Goldstein, J.L.1    Sobhani, M.K.2    Faust, J.R.3    Brown, M.S.4
  • 5
    • 44849108492 scopus 로고    scopus 로고
    • Update and analysis of the university college London low density lipoprotein receptor familial hypercholesterolemia database
    • DOI 10.1111/j.1469-1809.2008.00436.x
    • Leigh SE, Foster AH, Whittall RA, Hubbart CS, Humphries SE. Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. Ann Hum Genet. 2008; 72:485-498. (Pubitemid 351850090)
    • (2008) Annals of Human Genetics , vol.72 , Issue.4 , pp. 485-498
    • Leigh, S.E.A.1    Foster, A.H.2    Whittall, R.A.3    Hubbart, C.S.4    Humphries, S.E.5
  • 10
    • 24644511304 scopus 로고    scopus 로고
    • Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate
    • DOI 10.1016/j.atherosclerosis.2005.02.016, PII S0021915005001565
    • Graham CA, McIlhatton BP, Kirk CW, Beattie ED, Lyttle K, Hart P, Neely RD, Young IS, Nicholls DP. Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate. Atherosclerosis. 2005;182:331-340. (Pubitemid 41267202)
    • (2005) Atherosclerosis , vol.182 , Issue.2 , pp. 331-340
    • Graham, C.A.1    McIlhatton, B.P.2    Kirk, C.W.3    Beattie, E.D.4    Lyttle, K.5    Hart, P.6    Neely, R.D.G.7    Young, I.S.8    Nicholls, D.P.9
  • 11
    • 0029146594 scopus 로고
    • Familial hypercholesterolemia: Molecular, biochemical, and clinical characterization of a French-Canadian pediatric population
    • Assouline L, Levy E, Feoli-Fonseca JC, Godbout C, Lambert M. Familial hypercholesterolemia: molecular, biochemical, and clinical characterization of a French-Canadian pediatric population. Pediatrics. 1995;96: 239-246.
    • (1995) Pediatrics , vol.96 , pp. 239-246
    • Assouline, L.1    Levy, E.2    Feoli-Fonseca, J.C.3    Godbout, C.4    Lambert, M.5
  • 13
    • 69249233633 scopus 로고    scopus 로고
    • Growth curves for cardio-metabolic risk factors in children and adolescents
    • Cook S, Auinger P, Huang TT. Growth curves for cardio-metabolic risk factors in children and adolescents. J Pediatr. 2009;155:S6-S26.
    • (2009) J Pediatr , vol.155
    • Cook, S.1    Auinger, P.2    Huang, T.T.3
  • 14
    • 70350475674 scopus 로고    scopus 로고
    • Using BMI to determine cardiovascular risk in childhood: How do the BMI cutoffs fare?
    • Skinner AC, Mayer ML, Flower K, Perrin EM, Weinberger M. Using BMI to determine cardiovascular risk in childhood: how do the BMI cutoffs fare? Pediatrics. 2009;124:e905-e912.
    • (2009) Pediatrics , vol.124
    • Skinner, A.C.1    Mayer, M.L.2    Flower, K.3    Perrin, E.M.4    Weinberger, M.5
  • 15
    • 79953042509 scopus 로고    scopus 로고
    • Centers for Disease Control and Prevention Accessed February 2, 2009
    • Centers for Disease Control and Prevention. BMI cutoffs. 2010. Available at: http://www.cdc.gov/growthcharts/clinical-charts.htm. Accessed February 2, 2009.
    • (2010) BMI Cutoffs
  • 16
    • 0015348189 scopus 로고
    • Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge
    • Friedewald WT, Levy RI, Fredrickson DS. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem. 1972;18:499-502.
    • (1972) Clin Chem , vol.18 , pp. 499-502
    • Friedewald, W.T.1    Levy, R.I.2    Fredrickson, D.S.3
  • 17
    • 28844468394 scopus 로고    scopus 로고
    • Update of the molecular basis of familial hypercholesterolemia in The Netherlands
    • DOI 10.1002/humu.20256
    • Fouchier SW, Kastelein JJ, Defesche JC. Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Hum Mutat. 2005;26: 550-556. (Pubitemid 41780477)
    • (2005) Human Mutation , vol.26 , Issue.6 , pp. 550-556
    • Fouchier, S.W.1    Kastelein, J.J.P.2    Defesche, J.C.3
  • 18
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • DOI 10.1002/(SICI)1098-1004(20 0001)15:1<7::AID-HUMU4>3.0.CO;2-N
    • den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat. 2000;15:7-12. (Pubitemid 30036162)
    • (2000) Human Mutation , vol.15 , Issue.1 , pp. 7-12
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 19
    • 79953040877 scopus 로고    scopus 로고
    • Accessed October 25, 2010
    • Leigh S. LDLR database. Available at: http://www.ucl.ac.uk/ldlr. Accessed October 25, 2010.
    • LDLR Database
    • Leigh, S.1
  • 20
    • 0035686835 scopus 로고    scopus 로고
    • The molecular basis of familial hypercholesterolemia in the Netherlands
    • DOI 10.1007/s00439-001-0628-8
    • Fouchier SW, Defesche JC, Umans-Eckenhausen MW, Kastelein JP. The molecular basis of familial hypercholesterolemia in The Netherlands. Hum Genet. 2001;109:602-615. (Pubitemid 34051414)
    • (2001) Human Genetics , vol.109 , Issue.6 , pp. 602-615
    • Fouchier, S.W.1    Defesche, J.C.2    Umans-Eckenhausen, M.A.3    Kastelein, J.J.4
  • 21
    • 43449107670 scopus 로고    scopus 로고
    • Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing
    • DOI 10.1111/j.1399-0004.2008.00999.x
    • Defesche JC, Schuurman EJ, Klaaijsen LN, Khoo KL, Wiegman A, Stalenhoef AF. Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing. Clin Genet. 2008;73:573-578. (Pubitemid 351663938)
    • (2008) Clinical Genetics , vol.73 , Issue.6 , pp. 573-578
    • Defesche, J.C.1    Schuurman, E.J.M.2    Klaaijsen, L.N.3    Khoo, K.L.4    Wiegman, A.5    Stalenhoef, A.F.H.6
  • 23
    • 64749086704 scopus 로고    scopus 로고
    • Controversies in familial hypercholesterolaemia: Recommendations of the NICE Guideline Development Group for the identification and management of familial hypercholesterolaemia
    • Minhas R, Humphries SE, Qureshi N, Neil HA. Controversies in familial hypercholesterolaemia: recommendations of the NICE Guideline Development Group for the identification and management of familial hypercholesterolaemia. Heart. 2009;95:584-587.
    • (2009) Heart , vol.95 , pp. 584-587
    • Minhas, R.1    Humphries, S.E.2    Qureshi, N.3    Neil, H.A.4
  • 24
    • 0035863631 scopus 로고    scopus 로고
    • Usefulness of cardiovascular family history data for population-based preventive medicine and medical research (The Health Family Tree Study and the NHLBI Family Heart Study)
    • DOI 10.1016/S0002-9149(00)01303-5, PII S0002914900013035
    • Williams RR, Hunt SC, Heiss G, Province MA, Bensen JT, Higgins M, Chamberlain RM, Ware J, Hopkins PN. Usefulness of cardiovascular family history data for population-based preventive medicine and medical research (the Health Family Tree Study and the NHLBI Family Heart Study). Am J Cardiol. 2001;87:129-135. (Pubitemid 32057219)
    • (2001) American Journal of Cardiology , vol.87 , Issue.2 , pp. 129-135
    • Williams, R.R.1    Hunt, S.C.2    Heiss, G.3    Province, M.A.4    Bensen, J.T.5    Higgins, M.6    Chamberlain, R.M.7    Ware, J.8    Hopkins, P.N.9
  • 25
    • 51249096285 scopus 로고    scopus 로고
    • Familial hypercholesterolaemia: Summary of NICE guidance
    • Wierzbicki AS, Humphries SE, Minhas R. Familial hypercholesterolaemia: summary of NICE guidance. BMJ. 2008;337:a1095.
    • (2008) BMJ , vol.337
    • Wierzbicki, A.S.1    Humphries, S.E.2    Minhas, R.3
  • 26
    • 0027327338 scopus 로고
    • Familial combined hyperlipidemia in children: Clinical expression, metabolic defects, and management
    • Cortner JA, Coates PM, Liacouras CA, Jarvik GP. Familial combined hyperlipidemia in children: clinical expression, metabolic defects, and management. J Pediatr. 1993;123:177-184. (Pubitemid 23221095)
    • (1993) Journal of Pediatrics , vol.123 , Issue.2 , pp. 177-184
    • Cortner, J.A.1    Coates, P.M.2    Liacouras, C.A.3    Jarvik, G.P.4
  • 27
    • 54349112435 scopus 로고    scopus 로고
    • Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting
    • Civeira F, Jarauta E, Cenarro A, Garcia-Otin AL, Tejedor D, Zambon D, Mallen M, Ros E, Pocovi M. Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting. J Am Coll Cardiol. 2008; 52:1546-1553.
    • (2008) J Am Coll Cardiol , vol.52 , pp. 1546-1553
    • Civeira, F.1    Jarauta, E.2    Cenarro, A.3    Garcia-Otin, A.L.4    Tejedor, D.5    Zambon, D.6    Mallen, M.7    Ros, E.8    Pocovi, M.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.