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Volumn 100, Issue 3, 2005, Pages 389-393

Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype

Author keywords

ABCC6 gene; Atherosclerosis; Coronary artery disease; Phenotype; Pseudoxanthoma elasticum

Indexed keywords

ADULT; ANALYTIC METHOD; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL SKIN DISEASE; CONTROLLED STUDY; CORONARY ARTERY DISEASE; EYE FUNDUS; EYE MALFORMATION; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; OPHTHALMOSCOPY; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; RETINA ANGIOGRAPHY; SKIN EXAMINATION;

EID: 17044399328     PISSN: 01675273     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijcard.2004.07.012     Document Type: Article
Times cited : (15)

References (25)
  • 1
    • 0035102089 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: Significance of limited phenotypic expression in parents of affected offspring
    • D.W. Sherer, L. Bercovitch, and M. Lebwohl Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring J. Am. Acad. Dermatol. 44 2001 534 537
    • (2001) J. Am. Acad. Dermatol. , vol.44 , pp. 534-537
    • Sherer, D.W.1    Bercovitch, L.2    Lebwohl, M.3
  • 2
    • 0031923262 scopus 로고    scopus 로고
    • International centennial meeting of pseudoxanthoma elasticum: Progress in PXE research
    • J. Uitto, C. Boyd, M. Lebwohl, J. Rosenbloom, and S. Terry International centennial meeting of pseudoxanthoma elasticum: progress in PXE research J. Invest. Dermatol. 110 1998 840 842
    • (1998) J. Invest. Dermatol. , vol.110 , pp. 840-842
    • Uitto, J.1    Boyd, C.2    Lebwohl, M.3    Rosenbloom, J.4    Terry, S.5
  • 5
    • 0027159871 scopus 로고
    • Abnormalities of connective tissue components in lesional and non-lesional tissue of patients with pseudoxanthoma elasticum
    • M. Lebwohl, E. Schwartz, G. Lemlich, O. Lovelace, F. Shaikh-Bahai, and R. Fleischmajer Abnormalities of connective tissue components in lesional and non-lesional tissue of patients with pseudoxanthoma elasticum Arch. Dermatol. Res. 285 1993 121 126
    • (1993) Arch. Dermatol. Res. , vol.285 , pp. 121-126
    • Lebwohl, M.1    Schwartz, E.2    Lemlich, G.3    Lovelace, O.4    Shaikh-Bahai, F.5    Fleischmajer, R.6
  • 8
    • 0023744791 scopus 로고
    • Pseudoxanthoma elasticum
    • K.H. Neldner Pseudoxanthoma elasticum Clin. Derm. 6 1988 83 92
    • (1988) Clin. Derm. , vol.6 , pp. 83-92
    • Neldner, K.H.1
  • 9
    • 0026001088 scopus 로고
    • Early preclinical diagnosis of dominant pseudoxanthoman elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk
    • I. Hausser, and I. Anton-Lamprecht Early preclinical diagnosis of dominant pseudoxanthoman elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk Hum. Genet. 87 1991 693 700
    • (1991) Hum. Genet. , vol.87 , pp. 693-700
    • Hausser, I.1    Anton-Lamprecht, I.2
  • 12
    • 0027504594 scopus 로고
    • Brief report: Occult pseudoxanthoma elasticum in patients with premature cardiovascular disease
    • M. Lebwohl, J. Halperin, and R.G. Phelps Brief report: occult pseudoxanthoma elasticum in patients with premature cardiovascular disease New Engl. J. Med. 329 1993 1237 1239
    • (1993) New Engl. J. Med. , vol.329 , pp. 1237-1239
    • Lebwohl, M.1    Halperin, J.2    Phelps, R.G.3
  • 15
    • 0034705145 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
    • F. Ringpfeil, M.G. Lebwohl, A.M. Christiano, and J. Uitto Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter Proc. Natl. Acad. Sci. U. S. A. 97 2000 6001 6006
    • (2000) Proc. Natl. Acad. Sci. U. S. A. , vol.97 , pp. 6001-6006
    • Ringpfeil, F.1    Lebwohl, M.G.2    Christiano, A.M.3    Uitto, J.4
  • 16
    • 0027095653 scopus 로고
    • Overexpression of a transporter gene in a multidrug-resistant human lung cancer cell line
    • S.P. Cole, G. Bhardwaj, and J.H. Gerlach Overexpression of a transporter gene in a multidrug-resistant human lung cancer cell line Science 258 1992 1650 1654
    • (1992) Science , vol.258 , pp. 1650-1654
    • Cole, S.P.1    Bhardwaj, G.2    Gerlach, J.H.3
  • 17
    • 0037072447 scopus 로고    scopus 로고
    • Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease
    • M.D. Trip, Y.M. Smulders, J.J. Wegman, X. Hu, J.M.A. Boer, and J.B. ten Brink Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease Circulation 106 2002 773 775
    • (2002) Circulation , vol.106 , pp. 773-775
    • Trip, M.D.1    Smulders, Y.M.2    Wegman, J.J.3    Hu, X.4    Boer, J.M.A.5    Ten Brink, J.B.6
  • 18
    • 0030964532 scopus 로고    scopus 로고
    • A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1
    • S. van Soest, J. Swart, N. Tijmes, L.A. Sandkuijl, J. Rommers, and A.A.B. Bergen A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1 Gen. Res. 7 1997 830 834
    • (1997) Gen. 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.B.6
  • 19
    • 0034674901 scopus 로고    scopus 로고
    • A family of drug transporters: The multidrug resistance-associated proteins
    • P. Borst, R. Evers, M. Kool, and J. Wijnholds A family of drug transporters: the multidrug resistance-associated proteins J. Natl. Cancer Inst. 92 2000 1295 1302
    • (2000) J. Natl. Cancer Inst. , vol.92 , pp. 1295-1302
    • Borst, P.1    Evers, R.2    Kool, M.3    Wijnholds, J.4
  • 20
    • 0032893268 scopus 로고    scopus 로고
    • Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells
    • M. Kool, M. van der Linden, M. de Haas, F. Baas, and P. Borst Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells Cancer Res. 59 1999 175 182
    • (1999) Cancer Res. , vol.59 , pp. 175-182
    • Kool, M.1    Van Der Linden, M.2    De Haas, M.3    Baas, F.4    Borst, P.5
  • 22
    • 0037053355 scopus 로고    scopus 로고
    • Loss of ATP-dependant transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MPR6)
    • A. Iliás, Z. Urbán, T.L. Seidl, O. le Saux, E. Sinkó, and C.D. Boyd Loss of ATP-dependant transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MPR6) J. Biol. Chem. 277 2002 16860 16867
    • (2002) J. Biol. Chem. , vol.277 , pp. 16860-16867
    • Iliás, A.1    Urbán, Z.2    Seidl, T.L.3    Le Saux, O.4    Sinkó, E.5    Boyd, C.D.6
  • 23
    • 0033378816 scopus 로고    scopus 로고
    • Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE)
    • B. Bacchelli, D. Quaglino, D. Gheduzzi, F. Taparelli, F. Boraldi, and B. Trolli Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE) Mod. Pathol. 12 1999 1112 1123
    • (1999) Mod. Pathol. , vol.12 , pp. 1112-1123
    • Bacchelli, B.1    Quaglino, D.2    Gheduzzi, D.3    Taparelli, F.4    Boraldi, F.5    Trolli, B.6


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