메뉴 건너뛰기




Volumn 33, Issue 11, 2013, Pages 2646-2652

Characterization of cardiovascular involvement in pseudoxanthoma elasticum families

Author keywords

atherosclerosis; carotid intima media thickness; pseudoxanthoma elasticum; vascular stiffness; ventricular function

Indexed keywords

ANTIHYPERTENSIVE AGENT;

EID: 84887028870     PISSN: 10795642     EISSN: 15244636     Source Type: Journal    
DOI: 10.1161/ATVBAHA.113.301901     Document Type: Article
Times cited : (63)

References (41)
  • 1
    • 76649133303 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: Molecular genetics and putative pathomechanisms
    • Uitto J, Li Q, Jiang Q. Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms. J Invest Dermatol. 2010;130:661-670.
    • (2010) J Invest Dermatol. , vol.130 , pp. 661-670
    • Uitto, J.1    Li, Q.2    Jiang, Q.3
  • 4
    • 28844498292 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: A clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
    • Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet. 2005;42:881-892.
    • (2005) J Med Genet. , vol.42 , pp. 881-892
    • Chassaing, N.1    Martin, L.2    Calvas, P.3    Le Bert, M.4    Hovnanian, A.5
  • 5
    • 4644230029 scopus 로고    scopus 로고
    • Intravascular ultrasound fndings of coronary wall morphology in a patient with pseudoxanthoma elasticum
    • Miwa K, Higashikata T, Mabuchi H. Intravascular ultrasound fndings of coronary wall morphology in a patient with pseudoxanthoma elasticum. Heart. 2004;90:e61.
    • (2004) Heart. , vol.90
    • Miwa, K.1    Higashikata, T.2    Mabuchi, H.3
  • 6
    • 17044399328 scopus 로고    scopus 로고
    • Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no pseudoxanthoma elasticum phenotype
    • Wegman JJ, Hu X, Tan H, Bergen AA, Trip MD, Kastelein JJ, Smulders YM. Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no pseudoxanthoma elasticum phenotype. Int J Cardiol. 2005;100:389-393.
    • (2005) Int J Cardiol. , vol.100 , pp. 389-393
    • Wegman, J.J.1    Hu, X.2    Tan, H.3    Bergen, A.A.4    Trip, M.D.5    Kastelein, J.J.6    Smulders, Y.M.7
  • 7
    • 0030964532 scopus 로고    scopus 로고
    • A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1
    • van Soest S, Swart J, Tijmes N, Sandkuijl LA, Rommers J, Bergen AA. A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1. Genome Res. 1997;7:830-834.
    • (1997) Genome Res. , vol.7 , pp. 830-834
    • Van Soest, S.1    Swart, J.2    Tijmes, N.3    Sandkuijl, L.A.4    Rommers, J.5    Bergen, A.A.6
  • 9
    • 4944223829 scopus 로고    scopus 로고
    • In patients with pseudoxanthoma elasti-cum a thicker and more elastic carotid artery is associated with elastin fragmentation and proteoglycans accumulation
    • Kornet L, Bergen AA, Hoeks AP, Cleutjens JP, Oostra RJ, Daemen MJ, van Soest S, Reneman RS. In patients with pseudoxanthoma elasti-cum a thicker and more elastic carotid artery is associated with elastin fragmentation and proteoglycans accumulation. Ultrasound Med Biol. 2004;30:1041-1048
    • (2004) Ultrasound Med Biol. , vol.30 , pp. 1041-1048
    • Kornet, L.1    Bergen, A.A.2    Hoeks, A.P.3    Cleutjens, J.P.4    Oostra, R.J.5    Daemen, M.J.6    Van Soest, S.7    Reneman, R.S.8
  • 11
    • 39849092749 scopus 로고    scopus 로고
    • Intracerebral haemorrhage as frst manifestation of pseudoxanthoma elasticum
    • Bock A, Schwegler G. Intracerebral haemorrhage as frst manifestation of pseudoxanthoma elasticum. Clin Neurol Neurosurg. 2008;110:262-264.
    • (2008) Clin Neurol Neurosurg. , vol.110 , pp. 262-264
    • Bock, A.1    Schwegler, G.2
  • 13
    • 41149104552 scopus 로고    scopus 로고
    • Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: Consequences of this phenotype overlap for the defnition of PXE
    • Martin L, Maître F, Bonicel P, Daudon P, Verny C, Bonneau D, Le Saux O, Chassaing N. Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the defnition of PXE. Arch Dermatol. 2008;144:301-306.
    • (2008) Arch Dermatol. , vol.144 , pp. 301-306
    • Martin, L.1    Maître, F.2    Bonicel, P.3    Daudon, P.4    Verny, C.5    Bonneau, D.6    Le Saux, O.7    Chassaing, N.8
  • 14
    • 33846977383 scopus 로고    scopus 로고
    • Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum
    • Martin L, Chassaing N, Delaite D, Estève E, Maître F, Le Bert M. Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum. J Eur Acad Dermatol Venereol. 2007;21:368-373.
    • (2007) J Eur Acad Dermatol Venereol. , vol.21 , pp. 368-373
    • Martin, L.1    Chassaing, N.2    Delaite, D.3    Estève, E.4    Maître, F.5    Le Bert, M.6
  • 15
    • 57649232758 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: Clinical phenotypes, molecular genetics and putative pathomechanisms
    • Li Q, Jiang Q, Pfendner E, Váradi A, Uitto J. Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp Dermatol. 2009;18:1-11.
    • (2009) Exp Dermatol. , vol.18 , pp. 1-11
    • Li, Q.1    Jiang, Q.2    Pfendner, E.3    Váradi, A.4    Uitto, J.5
  • 16
    • 35348906644 scopus 로고    scopus 로고
    • Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
    • Pfendner EG, Vanakker OM, Terry SF, et al. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet. 2007;44:621-628.
    • (2007) J Med Genet. , vol.44 , pp. 621-628
    • Pfendner, E.G.1    Vanakker, O.M.2    Terry, S.F.3
  • 17
    • 0034478001 scopus 로고    scopus 로고
    • Molecular genetics of pseudoxanthoma elasticum: A metabolic disorder at the environment-genome interface?
    • Uitto J, Pulkkinen L, Ringpfeil F. Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface? Trends Mol Med. 2001;7:13-17.
    • (2001) Trends Mol Med. , vol.7 , pp. 13-17
    • Uitto, J.1    Pulkkinen, L.2    Ringpfeil, F.3
  • 18
    • 77955055420 scopus 로고    scopus 로고
    • Analysis of MMP2 promoter polymorphisms in patients with pseudoxanthoma elas-ticum
    • Zarbock R, Hendig D, Szliska C, Kleesiek K, Götting C. Analysis of MMP2 promoter polymorphisms in patients with pseudoxanthoma elas-ticum. Clin Chim Acta. 2010;411:1487-1490.
    • (2010) Clin Chim Acta. , vol.411 , pp. 1487-1490
    • Zarbock, R.1    Hendig, D.2    Szliska, C.3    Kleesiek, K.4    Götting, C.5
  • 25
    • 0033850855 scopus 로고    scopus 로고
    • Sudden cardiac death owing to pseudoxanthoma elasticum: A case report
    • Nolte KB. Sudden cardiac death owing to pseudoxanthoma elasticum: a case report. Hum Pathol. 2000;31:1002-1004.
    • (2000) Hum Pathol. , vol.31 , pp. 1002-1004
    • Nolte, K.B.1
  • 28
    • 33646198850 scopus 로고    scopus 로고
    • Left ventricular systolic and diastolic function by echocardiogram in pseudoxanthoma elasticum
    • Nguyen LD, Terbah M, Daudon P, Martin L. Left ventricular systolic and diastolic function by echocardiogram in pseudoxanthoma elasticum. Am J Cardiol. 2006;97:1535-1537.
    • (2006) Am J Cardiol. , vol.97 , pp. 1535-1537
    • Nguyen, L.D.1    Terbah, M.2    Daudon, P.3    Martin, L.4
  • 29
    • 84877642098 scopus 로고    scopus 로고
    • European Guidelines on Cardiovascular Disease Prevention in Clinical Practice (version 2012): The Fifth Joint Task Force of the European Society of Cardiology and other societies on cardiovascular disease prevention in clinical practice (constituted by representatives of nine societies and by invited experts)
    • Perk J, De Backer G., Gohlke H, et al. European Guidelines on Cardiovascular Disease Prevention in Clinical Practice (version 2012): The Fifth Joint Task Force of the European Society of Cardiology and other societies on cardiovascular disease prevention in clinical practice (constituted by representatives of nine societies and by invited experts). Int J Behav Med. 2012;19:403-488.
    • (2012) Int J Behav Med. , vol.19 , pp. 403-488
    • Perk, J.1    De Backer, G.2    Gohlke, H.3
  • 30
    • 0037126526 scopus 로고    scopus 로고
    • Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) fnal report
    • Third Report of the National Cholesterol Education Program (NCEP)
    • Third Report of the National Cholesterol Education Program (NCEP). Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) fnal report. Circulation. 2002; 106: 3143-3421.
    • (2002) Circulation , vol.106 , pp. 3143-3421
  • 31
    • 21544473871 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum
    • Laube S, Moss C. Pseudoxanthoma elasticum. Arch Dis Child. 2005;90:754-756.
    • (2005) Arch Dis Child. , vol.90 , pp. 754-756
    • Laube, S.1    Moss, C.2
  • 34
    • 78650708490 scopus 로고    scopus 로고
    • 2010 ACCF/AHA guideline for assessment of cardiovascular risk in asymptomatic adults: Executive summary: A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines
    • American College of Cardiology Foundation/American Heart Asscoiation Tasl Force on Practice Guidelines
    • Greenland P, Alpert JS, Beller GA, et al; American College of Cardiology Foundation/American Heart Asscoiation Tasl Force on Practice Guidelines. 2010 ACCF/AHA guideline for assessment of cardiovascular risk in asymptomatic adults: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation. 2010;122:2748-2764.
    • (2010) Circulation. , vol.122 , pp. 2748-2764
    • Greenland, P.1    Alpert, J.S.2    Beller, G.A.3
  • 35
    • 33845328050 scopus 로고    scopus 로고
    • Guidelines on the management of stable angina pectoris: Executive summary: The Task Force on the Management of Stable Angina Pectoris of the European Society of Cardiology
    • author reply 2903
    • Messerli FH, Mancia G, Conti CR, Pepine CJ. Guidelines on the management of stable angina pectoris: executive summary: The Task Force on the Management of Stable Angina Pectoris of the European Society of Cardiology. Eur Heart J. 2006;27:2902-3; author reply 2903.
    • (2006) Eur Heart J. , vol.27 , pp. 2902-2903
    • Messerli, F.H.1    Mancia, G.2    Conti, C.R.3    Pepine, C.J.4
  • 36
    • 84876180059 scopus 로고    scopus 로고
    • The vascular phenotype in pseudoxanthoma elasticum and related disorders: Contribution of a genetic disease to the understanding of vascular calcifcation
    • Lefthériotis G, Omarjee L, Le Saux O, Henrion D, Abraham P, Prunier F, Willoteaux S, Martin L. The vascular phenotype in pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcifcation. Front Genet. 2013;4:4.
    • (2013) Front Genet. , vol.4 , pp. 4
    • Lefthériotis, G.1    Omarjee, L.2    Le Saux, O.3    Henrion, D.4    Abraham, P.5    Prunier, F.6    Willoteaux, S.7    Martin, L.8
  • 40
    • 0035214999 scopus 로고    scopus 로고
    • Peripheral arterial disease-epidemiological aspects
    • Criqui MH. Peripheral arterial disease-epidemiological aspects. Vasc Med. 2001;6(3 Suppl):3-7.
    • (2001) Vasc Med. , vol.6 , Issue.3 SUPPL. , pp. 3-7
    • Criqui, M.H.1
  • 41
    • 81855199782 scopus 로고    scopus 로고
    • ESC guidelines on the diagnosis and treatment of peripheral artery diseases: Document covering atherosclerotic disease of extracranial carotid and vertebral, mesenteric, renal, upper and lower extremity arteries: The Task Force on the Diagnosis and Treatment of Peripheral Artery Diseases of the European Society of Cardiology (ESC)
    • Tendera M, Aboyans V, Bartelink ML, et al. ESC guidelines on the diagnosis and treatment of peripheral artery diseases: document covering atherosclerotic disease of extracranial carotid and vertebral, mesenteric, renal, upper and lower extremity arteries: The Task Force on the Diagnosis and Treatment of Peripheral Artery Diseases of the European Society of Cardiology (ESC). Eur Heart J. 2011;32:2851-2906.
    • (2011) Eur Heart J. , vol.32 , pp. 2851-2906
    • Tendera, M.1    Aboyans, V.2    Bartelink, M.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.