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Volumn 130, Issue 3, 2010, Pages 661-670

Pseudoxanthoma elasticum: Molecular genetics and putative pathomechanisms

Author keywords

[No Author keywords available]

Indexed keywords

ABCC6 PROTEIN; BEVACIZUMAB; CARRIER PROTEIN; DNA; FETUIN A; FIBRILLIN 1; FIBRILLIN 2; GENE PRODUCT; GLUTATHIONE; MTRAIX GLA PROTEIN; MULTIDRUG RESISTANCE PROTEIN 6; PROTEIN; UNCLASSIFIED DRUG; VITAMIN K GROUP;

EID: 76649133303     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2009.411     Document Type: Article
Times cited : (119)

References (98)
  • 1
    • 43149100350 scopus 로고    scopus 로고
    • An alternative splice variant in Abcc6, the gene causing dystrophic calcification, leads to protein deficiency in C3H/ He Mice
    • Aherrahrou Z, Doegring LC, Ehlers E-M et al. (2008) An alternative splice variant in Abcc6, the gene causing dystrophic calcification, leads to protein deficiency in C3H/ He Mice. J Biol Chem 283:7608-7615
    • (2008) J Biol Chem , vol.283 , pp. 7608-7615
    • Aherrahrou, Z.1    Doegring, L.C.2    Ehlers, E.-M.3
  • 2
    • 17744395280 scopus 로고    scopus 로고
    • Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with beta-thalassemia
    • Baccarani-Contri M, Bacchelli B, Boraldi F et al. (2001) Characterization ofpseudoxanthoma elasticum-like lesions in the skin of patients with beta-thalassemia. J Am Acad Dermatol 44:33-39
    • (2001) J Am Acad Dermatol , vol.44 , pp. 33-39
    • Baccarani-Contri, M.1    Bacchelli, B.2    Boraldi, F.3
  • 3
    • 0003215147 scopus 로고
    • Recherches sur les charactères anatomiques du xanthelasma
    • Balzer F (1884) Recherches sur les charactères anatomiques du xanthelasma. Arch Physiol 4:65-80
    • (1884) Arch Physiol , vol.4 , pp. 65-80
    • Balzer, F.1
  • 4
    • 0036829109 scopus 로고    scopus 로고
    • Characterization of the drug resis tance and transport properties of multi-drug resistance protein 6 (MRP6, ABCC6)
    • Belinsky MG, Chen ZS, Shchaveleva I et al. (2002) Characterization of the drug resis tance and transport properties of multi-drug resistance protein 6 (MRP6, ABCC6). Cancer Res 62:6172-6177
    • (2002) Cancer Res , vol.62 , pp. 6172-6177
    • Belinsky, M.G.1    Chen, Z.S.2    Shchaveleva, I.3
  • 5
    • 0033020785 scopus 로고    scopus 로고
    • MOAT-E (ARA) is a full length MRP/cMOAT subfamily transporter expressed in kidney and liver
    • Belinsky MG, Kruh GD (1999) MOAT-E (ARA) is a full length MRP/cMOAT subfamily transporter expressed in kidney and liver. Br J Cancer 80:1342-1349
    • (1999) Br J Cancer , vol.80 , pp. 1342-1349
    • Belinsky, M.G.1    Kruh, G.D.2
  • 6
    • 9644273977 scopus 로고    scopus 로고
    • Pregnancy and obstetrical outcomes in pseu-doxanthoma elasticum
    • Bercovitch L, Leroux T, Terry S et al. (2004) Pregnancy and obstetrical outcomes in pseu-doxanthoma elasticum. Br J Dermatol 151: 1011-1018
    • (2004) Br J Dermatol , vol.151 , pp. 1011-1018
    • Bercovitch, L.1    Leroux, T.2    Terry, S.3
  • 7
    • 0034123093 scopus 로고    scopus 로고
    • Mutations in ABCC6 cause pseudoxanthoma elasticum
    • Bergen AA, Plomp AS, Schuurman EJ et al. (2000) Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 25:228-231
    • (2000) Nat Genet , vol.25 , pp. 228-231
    • Bergen, A.A.1    Plomp, A.S.2    Schuurman, E.J.3
  • 8
    • 23944489821 scopus 로고    scopus 로고
    • The vitamin K-dependent carboxylase
    • Berkner KL (2005) The vitamin K-dependent carboxylase. Ann Rev Nutr 25:127-149
    • (2005) Ann Rev Nutr , vol.25 , pp. 127-149
    • Berkner, K.L.1
  • 9
    • 0036074018 scopus 로고    scopus 로고
    • Mammalian ABC transporters in health and disease
    • Borst P, Elferink RO (2002) Mammalian ABC transporters in health and disease. Annu Rev Biochem 71:537-592
    • (2002) Annu Rev Biochem , vol.71 , pp. 537-592
    • Borst, P.1    Elferink, R.O.2
  • 10
    • 45849111436 scopus 로고    scopus 로고
    • Does the absence of ABCC6 (Multi-drug Resistance Protein 6) patients with pseudoxanthoma elasticum prevent the liver from providing sufficient vitamin K to the periphery?
    • Borst P, van de Wetering K, Schlingemann R (2008) Does the absence of ABCC6 (Multi-drug Resistance Protein 6) in patients with pseudoxanthoma elasticum prevent the liver from providing sufficient vitamin K to the periphery? Cell Cycle 7:1575-1579
    • (2008) Cell Cycle , vol.7 , pp. 1575-1579
    • Borst, P.1    Van De Wetering, K.2    Schlingemann, R.3
  • 11
    • 0034024296 scopus 로고    scopus 로고
    • A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: High-resolution mapping and genomic structure
    • Cai L, Struk B, Adams MD et al. (2000) A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure. J Mol Med 78:36-46
    • (2000) J Mol Med , vol.78 , pp. 36-46
    • Cai, L.1    Struk, B.2    Adams, M.D.3
  • 12
    • 33645738007 scopus 로고    scopus 로고
    • Skin graft vascularization involves precisely regulated regression and replacement of endothelial cells through both angiogenesis and vasculogenesis
    • Capla JM, Ceradini DJ, Tepper OM et al. (2006) Skin graft vascularization involves precisely regulated regression and replacement of endothelial cells through both angiogenesis and vasculogenesis. Plast Reconstr Surg 117:836-844
    • (2006) Plast Reconstr Surg , vol.117 , pp. 836-844
    • Capla, J.M.1    Ceradini, D.J.2    Tepper, O.M.3
  • 13
    • 33745037590 scopus 로고
    • Study of circulatory disturbances, pulse wave velocity and pressure pulses in large arteries in cases of pseudox-anthoma elasticum and angioid streaks: A contribution to the knowledge of function of the elastic tissue and the smooth muscles in larger arteries
    • Carlborg U (1944) Study of circulatory disturbances, pulse wave velocity and pressure pulses in large arteries in cases of pseudox-anthoma elasticum and angioid streaks: a contribution to the knowledge of function of the elastic tissue and the smooth muscles in larger arteries. Acta Med Scand 151:1-209
    • (1944) Acta Med Scand , vol.151 , pp. 1-209
    • Carlborg, U.1
  • 14
    • 35448946448 scopus 로고    scopus 로고
    • Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudox-anthoma elasticum in French patients
    • Chassaing N, Martin L, Bourthoumieu S et al. (2007) Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudox-anthoma elasticum in French patients. Hum Mutat 28:1046
    • (2007) Hum Mutat , vol.28 , pp. 1046
    • Chassaing, N.1    Martin, L.2    Bourthoumieu, S.3
  • 15
    • 28844498292 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: A clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
    • Chassaing N, Martin L, Calvas P et al. (2005) Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 42:881-892
    • (2005) J Med Genet , vol.42 , pp. 881-892
    • Chassaing, N.1    Martin, L.2    Calvas, P.3
  • 16
    • 1842740337 scopus 로고    scopus 로고
    • Novel ABCC6 mutations in pseudoxanthoma elasticum
    • Chassaing N, Martin L, Mazereeuw J et al. (2004) Novel ABCC6 mutations in pseudoxanthoma elasticum. J Invest Dermatol 122:608-613
    • (2004) J Invest Dermatol , vol.122 , pp. 608-613
    • Chassaing, N.1    Martin, L.2    Mazereeuw, J.3
  • 17
    • 0039897416 scopus 로고
    • Xanthelasma disséminé et symmétrique sans insufficiance hépatique
    • Chauffard MA (1889) Xanthelasma disséminé et symmétrique sans insufficiance hépatique. Bull Soc Med Hop Paris 6:412-419
    • (1889) Bull Soc Med Hop Paris , vol.6 , pp. 412-419
    • Chauffard, M.A.1
  • 18
    • 44049123201 scopus 로고
    • Workshop on pseudoxanthoma elas-ticum: Molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, Pennsylvania
    • Christiano AM, Lebwohl MG, Boyd CD et al. (1992) Workshop on pseudoxanthoma elas-ticum: molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, Pennsylvania. J Invest Derma-tol 99:660-663
    • (1992) J Invest Derma-tol , vol.99 , pp. 660-663
    • Christiano, A.M.1    Lebwohl, M.G.2    Boyd, C.D.3
  • 20
    • 61949474841 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: Genetics, clinical manifestations and therapeutic ap proaches
    • Finger RP, Charbel Issa P, Ladewig MS et al. (2009) Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic ap proaches. Surv Ophthalmol 54:272-285
    • (2009) Surv Ophthalmol , vol.54 , pp. 272-285
    • Finger, R.P.1    Charbel Issa, P.2    Ladewig, M.S.3
  • 21
    • 58549107012 scopus 로고    scopus 로고
    • Clustering of disease-causing mutations on the domain-domain interfaces of ABCC6
    • Fülöp K, Barna L, Symmons O et al. (2009) Clustering of disease-causing mutations on the domain-domain interfaces of ABCC6. Biochem Biophys Res Commun 379:706-709
    • (2009) Biochem Biophys Res Commun , vol.379 , pp. 706-709
    • Fülöp, K.1    Barna, L.2    Symmons, O.3
  • 22
    • 76649128440 scopus 로고    scopus 로고
    • Angioid streaks, clinical course, complications, and current therapeutic management
    • Georgalas I, Papaconstantinou D, Koutsandrea C et al. (2009) Angioid streaks, clinical course, complications, and current therapeutic management. Ther Clin Risk Manag 5:81-89
    • (2009) Ther Clin Risk Manag , vol.5 , pp. 81-89
    • Georgalas, I.1    Papaconstantinou, D.2    Koutsandrea, C.3
  • 23
    • 34548779758 scopus 로고    scopus 로고
    • Matrix Gla protein is involved in elastic fiber calcification in the dermis of pseudoxantho-ma elasticum patients
    • Gheduzzi D, Boraldi F, Annovi G et al. (2007) Matrix Gla protein is involved in elastic fiber calcification in the dermis of pseudoxantho-ma elasticum patients. Lab Invest 87: 998-1008
    • (2007) Lab Invest , vol.87 , pp. 998-1008
    • Gheduzzi, D.1    Boraldi, F.2    Annovi, G.3
  • 24
    • 34547975815 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum, as a repetitive upper gastrointestinal hemorrhage cause in a pregnant woman
    • Goral V, Demir D, Tuzun Y et al. (2007) Pseudoxanthoma elasticum, as a repetitive upper gastrointestinal hemorrhage cause in a pregnant woman. World J Gastroenterol 13:3897-3899
    • (2007) World J Gastroenterol , vol.13 , pp. 3897-3899
    • Goral, V.1    Demir, D.2    Tuzun, Y.3
  • 25
    • 26444436944 scopus 로고    scopus 로고
    • Disruption of Abcc6 in the mouse: Novel insight in the pathogenesis of pseudoxanthoma elasticum
    • Gorgels TG, Hu X, Scheffer GL et al. (2005) Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. Hum Mol Genet 14:1763-1773
    • (2005) Hum Mol Genet , vol.14 , pp. 1763-1773
    • Gorgels, T.G.1    Hu, X.2    Scheffer, G.L.3
  • 26
    • 84980055555 scopus 로고
    • Angioid streaks-pseudoxanthoma elasticum
    • Gronblad E (1929) Angioid streaks-pseudoxanthoma elasticum. Acta Ophthalmol 7:329
    • (1929) Acta Ophthalmol , vol.7 , pp. 329
    • Gronblad, E.1
  • 27
    • 0041410231 scopus 로고    scopus 로고
    • Acquired pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients
    • Hamlin N, Beck K, Bacchelli B et al. (2003) Acquired pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients. Br J Haematol 122:852-854
    • (2003) Br J Haematol , vol.122 , pp. 852-854
    • Hamlin, N.1    Beck, K.2    Bacchelli, B.3
  • 28
    • 34248373201 scopus 로고    scopus 로고
    • SPP1 promoter polymorphisms: Identification of the first modifier gene for pseudoxanthoma elasticum
    • Hendig D, Arndt M, Szliska C et al. (2007) SPP1 promoter polymorphisms: identification of the first modifier gene for pseudoxanthoma elasticum. Clin Chem 53:829-836
    • (2007) Clin Chem , vol.53 , pp. 829-836
    • Hendig, D.1    Arndt, M.2    Szliska, C.3
  • 29
    • 31844441584 scopus 로고    scopus 로고
    • Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum
    • Hendig D, Schulz V, Arndt M et al. (2006) Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum. Clin Chem 52:227-234
    • (2006) Clin Chem , vol.52 , pp. 227-234
    • Hendig, D.1    Schulz, V.2    Arndt, M.3
  • 30
    • 9744268955 scopus 로고    scopus 로고
    • Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum
    • Hu X, Plomp A, Gorgels T et al. (2004) Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum. Genet Test 8:292-300
    • (2004) Genet Test , vol.8 , pp. 292-300
    • Hu, X.1    Plomp, A.2    Gorgels, T.3
  • 31
    • 0037053355 scopus 로고    scopus 로고
    • Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6
    • Ilias A, Urban Z, Seidl TL et al. (2002) Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). J Biol Chem 277: 16860-16867
    • (2002) J Biol Chem , vol.277 , pp. 16860-16867
    • Ilias, A.1    Urban, Z.2    Seidl, T.L.3
  • 32
    • 0031436252 scopus 로고    scopus 로고
    • Cloning and targeted deletion of the mouse fetuin gene
    • Jahnen-Dechent W, Schinke T, Trindl A et al. (1997) Cloning and targeted deletion of the mouse fetuin gene. J Biol Chem 272: 31496-31503
    • (1997) J Biol Chem , vol.272 , pp. 31496-31503
    • Jahnen-Dechent, W.1    Schinke, T.2    Trindl, A.3
  • 34
    • 58449106109 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum is a metabolic disease
    • Jiang Q, Endo M, Dibra F et al. (2009) Pseudoxanthoma elasticum is a metabolic disease. J Invest Dermatol 129:348-354
    • (2009) J Invest Dermatol , vol.129 , pp. 348-354
    • Jiang, Q.1    Endo, M.2    Dibra, F.3
  • 35
    • 33847053974 scopus 로고    scopus 로고
    • Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: Systemic and local regulatory factors
    • Jiang Q, Li Q, UittoJ (2007) Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors. J Invest Dermatol 127:1392-4102
    • (2007) J Invest Dermatol , vol.127 , pp. 1392-4102
    • Jiang, Q.1    Li, Q.2    Uitto, J.3
  • 36
    • 33644655077 scopus 로고    scopus 로고
    • Transcriptional regulation and characterization of the promoter region of the human ABCC6 gene
    • Jiang Q, Matsuzaki Y, Li K et al. (2006) Transcriptional regulation and characterization of the promoter region of the human ABCC6 gene. J Invest Dermatol 126:325-335
    • (2006) J Invest Dermatol , vol.126 , pp. 325-335
    • Jiang, Q.1    Matsuzaki, Y.2    Li, K.3
  • 37
    • 76649133470 scopus 로고    scopus 로고
    • Parabiotic heterogenetic pairing of Abcc6-/-; Rag1-/-mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum
    • press
    • Jiang Q, Oldenburg R, Otsuru S et al. (2010a) Parabiotic heterogenetic pairing of Abcc6-/-; Rag1-/-mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum. Am J path (in press)
    • (2010) Am J Path
    • Jiang, Q.1    Oldenburg, R.2    Otsuru, S.3
  • 38
    • 33745205313 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: A metabolic disease?
    • Jiang Q, Uitto J (2006) Pseudoxanthoma elasticum: a metabolic disease? J Invest Dermatol 126:1440-1441
    • (2006) J Invest Dermatol , vol.126 , pp. 1440-1441
    • Jiang, Q.1    Uitto, J.2
  • 39
    • 24344480438 scopus 로고    scopus 로고
    • Targeted ablation of the ABCC6 gene results in ectopic mineralization of connective tissues
    • Klement JF, Matsuzaki Y, Jiang Q-J et al. (2005) Targeted ablation of the ABCC6 gene results in ectopic mineralization of connective tissues. Mol Cell Biol 25:8299-8310
    • (2005) Mol Cell Biol , vol.25 , pp. 8299-8310
    • Klement, J.F.1    Matsuzaki, Y.2    Jiang, Q.-J.3
  • 40
    • 4944223829 scopus 로고    scopus 로고
    • Patients with pseudoxanthoma elasticum a thicker and more elastic carotid artery is associated with elastin fragmentation and proteoglycans accumulation
    • Kornet L, Bergen AA, Hoeks AP et al. (2004) In patients with pseudoxanthoma elasticum a thicker and more elastic carotid artery is associated with elastin fragmentation and proteoglycans accumulation. Ultrasound Med Biol 30:1041-1048
    • (2004) Ultrasound Med Biol , vol.30 , pp. 1041-1048
    • Kornet, L.1    Bergen, A.A.2    Hoeks, A.P.3
  • 41
    • 59449093562 scopus 로고    scopus 로고
    • Thirty-two month follow-up of successful treatment of choroidal neovascularization from angioid streaks with intravitreal bev-acizumab
    • Kovach JL, Schwartz SG, Hickey M et al. (2009) Thirty-two month follow-up of successful treatment of choroidal neovascularization from angioid streaks with intravitreal bev-acizumab. Ophthalmic Surg Lasers Imaging 40:77-79
    • (2009) Ophthalmic Surg Lasers Imaging , vol.40 , pp. 77-79
    • Kovach, J.L.1    Schwartz, S.G.2    Hickey, M.3
  • 42
    • 39049170602 scopus 로고    scopus 로고
    • Ectopic mineralization of connective tissue in Abcc6" mice: Effects of dietary modifications and a phosphate binder-a preliminary study
    • LaRusso J, Jiang Q, Li Q et al. (2008) Ectopic mineralization of connective tissue in Abcc6" mice: effects of dietary modifications and a phosphate binder-a preliminary study. Exp Dermatol 17:203-7
    • (2008) Exp Dermatol , vol.17 , pp. 203-207
    • Larusso, J.1    Jiang, Q.2    Li, Q.3
  • 43
    • 67349122284 scopus 로고    scopus 로고
    • Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6
    • LaRusso J, Li Q, Jiang Q et al. (2009) Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6). J Invest Dermatol 129:1388-1394
    • (2009) J Invest Dermatol , vol.129 , pp. 1388-1394
    • Larusso, J.1    Li, Q.2    Jiang, Q.3
  • 44
    • 0036820764 scopus 로고    scopus 로고
    • Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa
    • Le Saux O, Beck K, Sachsinger C et al. (2002) Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. Hum Genet 111:331-338
    • (2002) Hum Genet , vol.111 , pp. 331-338
    • Le Saux, O.1    Beck, K.2    Sachsinger, C.3
  • 45
    • 33745213755 scopus 로고    scopus 로고
    • Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro
    • Le Saux O, Bunda S, VanWart CM et al. (2006) Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro. J Invest Dermatol 126:1497-1505
    • (2006) J Invest Dermatol , vol.126 , pp. 1497-1505
    • Le Saux, O.1    Bunda, S.2    Vanwart, C.M.3
  • 46
    • 0032759541 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16
    • Le Saux O, Urban Z, Goring HH et al. (1999) Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16. Genomics 62:1-10
    • (1999) Genomics , vol.62 , pp. 1-10
    • Le Saux, O.1    Urban, Z.2    Goring, H.H.3
  • 47
    • 18844465976 scopus 로고    scopus 로고
    • Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
    • Le Saux O, Urban Z, Tschuch C et al. (2000) Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet 25:223-227
    • (2000) Nat Genet , vol.25 , pp. 223-227
    • Le Saux, O.1    Urban, Z.2    Tschuch, C.3
  • 48
    • 0027159871 scopus 로고
    • Abnormalities of connective tissue components in lesional and non-lesional tissue of patients with pseudoxanthoma elasticum
    • Lebwohl M, Schwartz E, Lemlich G et al. (1993) Abnormalities of connective tissue components in lesional and non-lesional tissue of patients with pseudoxanthoma elasticum. Arch Dermatol Res 285:121-126
    • (1993) Arch Dermatol Res , vol.285 , pp. 121-126
    • Lebwohl, M.1    Schwartz, E.2    Lemlich, G.3
  • 50
    • 57649232758 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: Clinical pheno-types, molecular genetics and putative pathomechanisms
    • Li Q, Jiang Q, Pfendner E et al. (2009a) Pseudoxanthoma elasticum: clinical pheno-types, molecular genetics and putative pathomechanisms. Exp Derm 18:1-11
    • (2009) Exp Derm , vol.18 , pp. 1-11
    • Li, Q.1    Jiang, Q.2    Pfendner, E.3
  • 51
    • 59949086567 scopus 로고    scopus 로고
    • Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes
    • Li Q, Grange DK, Armstrong NL et al. (2009b) Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. J Invest Dermatol 129: 553-563
    • (2009) J Invest Dermatol , vol.129 , pp. 553-563
    • Li, Q.1    Grange, D.K.2    Armstrong, N.L.3
  • 52
    • 42149145474 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: Oxidative stress and antioxidant diet in a mouse model (Abcc6)
    • Li Q, Jiang Q, Uitto J (2008) Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6). J Invest Dermatol 128:1160-1164
    • (2008) J Invest Dermatol , vol.128 , pp. 1160-1164
    • Li, Q.1    Jiang, Q.2    Uitto, J.3
  • 53
    • 77953454937 scopus 로고    scopus 로고
    • Magnesium carbonate-containing phosphate binder prevents connective tissue mineralization in Abcc6-/-mice-potential for treatment of pseudoxanthoma elasticum
    • press
    • Li Q, LaRusso J, Grand-Pierre AE et al. (2010) Magnesium carbonate-containing phosphate binder prevents connective tissue mineralization in Abcc6-/-mice-potential for treatment of pseudoxanthoma elasticum. Clinical Trans-lational Science (in press)
    • (2010) Clinical Trans-lational Science
    • Li, Q.1    Larusso, J.2    Grand-Pierre, A.E.3
  • 54
    • 59649091261 scopus 로고    scopus 로고
    • Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency
    • Li Q, Schurgers LJ, Smith ACM et al. (2009c) Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency. Am J Pathol 174:534-539
    • (2009) Am J Pathol , vol.174 , pp. 534-539
    • Li, Q.1    Schurgers, L.J.2    Smith, A.C.M.3
  • 55
    • 76649116557 scopus 로고    scopus 로고
    • The mineralization phenotype in Abcc6-/-mice is affected by Ggcx gene deficiency and genetic background \-a model for pseudoxanthoma elasticum
    • press; PMID: 19784827
    • Li Q, Uitto J (2010) The mineralization phenotype in Abcc6-/-mice is affected by Ggcx gene deficiency and genetic background \-a model for pseudoxanthoma elasticum. J Mol Med. (in press; PMID: 19784827).
    • (2010) J Mol Med.
    • Li, Q.1    Uitto, J.2
  • 56
    • 0030947025 scopus 로고    scopus 로고
    • Spontaneous calcification of arteries and cartilage in mice lacking matrix GLA protein
    • Luo G, Ducy P, McKee MD et al. (1997) Spontaneous calcification of arteries and cartilage in mice lacking matrix GLA protein. Nature 386:78-81
    • (1997) Nature , vol.386 , pp. 78-81
    • Luo, G.1    Ducy, P.2    McKee, M.D.3
  • 57
    • 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 et al. (2007) Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum. J Eur Acad Dermatol Venereol 21:368-373
    • (2007) J Eur Acad Dermatol Venereol , vol.21 , pp. 368-373
    • Martin, L.1    Chassaing, N.2    Delaite, D.3
  • 58
    • 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 definition of PXE
    • Martin L, Mâitre F, Bonicel P et al. (2008) Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE. Arch Dermatol 144:301-306
    • (2008) Arch Dermatol , vol.144 , pp. 301-306
    • Martin, L.1    Mâitre, F.2    Bonicel, P.3
  • 60
    • 24344487872 scopus 로고    scopus 로고
    • Molecular genetics of pseudoxanthoma elas-ticum: Type and frequency of mutations in ABCC6
    • Miksch S, Lunsden A, Guenther UP et al. (2005) Molecular genetics of pseudoxanthoma elas-ticum: type and frequency of mutations in ABCC6. Hum Mutat 26:235-248
    • (2005) Hum Mutat , vol.26 , pp. 235-248
    • Miksch, S.1    Lunsden, A.2    Guenther, U.P.3
  • 61
    • 69149100052 scopus 로고    scopus 로고
    • Manifestations of pseudoxanthoma elasti-cum in childhood
    • Naorui M, Boisseau C, Bonicel P et al. (2009) Manifestations of pseudoxanthoma elasti-cum in childhood. Br J Dermatol 161:635-639
    • (2009) Br J Dermatol , vol.161 , pp. 635-639
    • Naorui, M.1    Boisseau, C.2    Bonicel, P.3
  • 62
    • 0023744791 scopus 로고
    • Pseudoxanthoma elasticum
    • Neldner KH (1988) Pseudoxanthoma elasticum. Clin Dermatol 6:1-159
    • (1988) Clin Dermatol , vol.6 , pp. 1-159
    • Neldner, K.H.1
  • 63
    • 29744452435 scopus 로고    scopus 로고
    • Oxidative stress in fibroblasts from patients with pseudoxantho-ma elasticum: Possible role in the pathogen-esis of clinical manifestations
    • Pasquali-Ronchetti I, Garcia-Fernandez MI, Bor-aldi F et al. (2006) Oxidative stress in fibroblasts from patients with pseudoxantho-ma elasticum: possible role in the pathogen-esis of clinical manifestations. J Pathol 208:54-61
    • (2006) J Pathol , vol.208 , pp. 54-61
    • Pasquali-Ronchetti, I.1    Garcia-Fernandez, M.I.2    Bor-Aldi, F.3
  • 64
    • 0029938207 scopus 로고    scopus 로고
    • Proteoglycan alterations in skin fibro-blast cultures from patients affected with pseudoxanthoma elasticum
    • Passi A, Albertini R, Baccarani Contri M et al. (1996) Proteoglycan alterations in skin fibro-blast cultures from patients affected with pseudoxanthoma elasticum. Cell Biochem Funct 14:111-120
    • (1996) Cell Biochem Funct , vol.14 , pp. 111-120
    • Passi, A.1    Albertini, R.2    Baccarani Contri, M.3
  • 65
    • 76949084440 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: Genetic diagnostic markers
    • Pfendner E, Uitto J, Gerard GF et al. (2008) Pseudoxanthoma elasticum: genetic diagnostic markers. Exp Opinion Med Diagn 2:1-17
    • (2008) Exp Opinion Med Diagn , vol.2 , pp. 1-17
    • Pfendner, E.1    Uitto, J.2    Gerard, G.F.3
  • 66
    • 35348906644 scopus 로고    scopus 로고
    • Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudox-anthoma elasticum
    • Pfendner EG, Vanakker OM, Terry SF et al. (2007) Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudox-anthoma elasticum. J Med Genet 44:621-628
    • (2007) J Med Genet , vol.44 , pp. 621-628
    • Pfendner, E.G.1    Vanakker, O.M.2    Terry, S.F.3
  • 68
    • 0016501096 scopus 로고
    • Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum
    • Pope FM (1975) Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum. Br J Dermatol 92:493-509
    • (1975) Br J Dermatol , vol.92 , pp. 493-509
    • Pope, F.M.1
  • 69
    • 0034815179 scopus 로고    scopus 로고
    • Identification of ABCC6 pseudogenes on human chromosome 16p: Implications for mutation detection in pseudoxanthoma elas-ticum
    • Pulkkinen L, Nakano A, Ringpfeil F et al. (2001) Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elas-ticum. Hum Genet 109:356-365
    • (2001) Hum Genet , vol.109 , pp. 356-365
    • Pulkkinen, L.1    Nakano, A.2    Ringpfeil, F.3
  • 70
    • 0343986266 scopus 로고    scopus 로고
    • Abnormal phenotype of in vitro dermal fibroblasts from patients with pseudoxantho-ma elasticum (PXE)
    • Quaglino D, Boraldi F, Barbieri D et al. (2000) Abnormal phenotype of in vitro dermal fibroblasts from patients with pseudoxantho-ma elasticum (PXE). Biochim Biophys Acta 1501:51-62
    • (2000) Biochim Biophys Acta , vol.1501 , pp. 51-62
    • Quaglino, D.1    Boraldi, F.2    Barbieri, D.3
  • 71
    • 20444496596 scopus 로고    scopus 로고
    • Dermal fibroblasts from pseudoxanthoma elasticum patients have raised MMP-2 de-gradative potential
    • Quaglino D, Sartor L, Garbisa S et al. (2005) Dermal fibroblasts from pseudoxanthoma elasticum patients have raised MMP-2 de-gradative potential. Biochim Biophys Acta 1741:42-47
    • (2005) Biochim Biophys Acta , vol.1741 , pp. 42-47
    • Quaglino, D.1    Sartor, L.2    Garbisa, S.3
  • 72
    • 67349220666 scopus 로고    scopus 로고
    • Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals
    • Ramsay M, Greenberg T, Lombard Z et al. (2009) Spectrum of genetic variation at the ABCC6 locus in South Africans: pseudoxanthoma elasticum patients and healthy individuals. J Dermatol Sci 54:198-204
    • (2009) J Dermatol Sci , vol.54 , pp. 198-204
    • Ramsay, M.1    Greenberg, T.2    Lombard, Z.3
  • 73
    • 0028047232 scopus 로고
    • Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family
    • Raybould MC, Birley AJ, Moss C et al. (1994) Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family. Clin Genet 45:48-51
    • (1994) Clin Genet , vol.45 , pp. 48-51
    • Raybould, M.C.1    Birley, A.J.2    Moss, C.3
  • 74
    • 0021749407 scopus 로고
    • Pseudoxanthoma elasticum: High calcium intake in early life correlates with severity
    • Renie WA, Pyeritz RE, Combs J et al. (1984) Pseudoxanthoma elasticum: high calcium intake in early life correlates with severity. Am J Med Genet 19:235-244
    • (1984) Am J Med Genet , vol.19 , pp. 235-244
    • Renie, W.A.1    Pyeritz, R.E.2    Combs, J.3
  • 75
    • 0034705145 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
    • Ringpfeil F, Lebwohl MG, Christiano AM et al. (2000) Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci USA 97:6001-6006
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 6001-6006
    • Ringpfeil, F.1    Lebwohl, M.G.2    Christiano, A.M.3
  • 76
    • 0035095432 scopus 로고    scopus 로고
    • Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum
    • Ringpfeil F, Nakano A, Uitto J et al. (2001) Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum. Am J Hum Genet 68:642-652
    • (2001) Am J Hum Genet , vol.68 , pp. 642-652
    • Ringpfeil, F.1    Nakano, A.2    Uitto, J.3
  • 77
    • 33645029409 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum is a recessive disease characterized by compound hetero-zygosity
    • Ringpfeil F, McGuigan K, Fuchsel L et al. (2006) Pseudoxanthoma elasticum is a recessive disease characterized by compound hetero-zygosity. J Invest Dermatol 126:782-786
    • (2006) J Invest Dermatol , vol.126 , pp. 782-786
    • Ringpfeil, F.1    McGuigan, K.2    Fuchsel, L.3
  • 78
    • 0035083372 scopus 로고    scopus 로고
    • The ank gene story
    • Ryan LM (2001) The ank gene story. Arthritis Res 3:77-79
    • (2001) Arthritis Res , vol.3 , pp. 77-79
    • Ryan, L.M.1
  • 79
    • 33750623207 scopus 로고    scopus 로고
    • Varied presentations of pseudoxanthoma elasticum in a family
    • Sakata S, Su JC, Robertson S et al. (2006) Varied presentations of pseudoxanthoma elasticum in a family. J Pediatr Child Health 42:817-820
    • (2006) J Pediatr Child Health , vol.42 , pp. 817-820
    • Sakata, S.1    Su, J.C.2    Robertson, S.3
  • 80
    • 0028226835 scopus 로고
    • Biochemical analyses of macromolecular matrix components in patients with pseudox-anthoma elasticum
    • Sakuraoka K, Tajima S, Nishikawa T et al. (1994) Biochemical analyses of macromolecular matrix components in patients with pseudox-anthoma elasticum. J Dermatol 21:98-101
    • (1994) J Dermatol , vol.21 , pp. 98-101
    • Sakuraoka, K.1    Tajima, S.2    Nishikawa, T.3
  • 81
    • 70349293649 scopus 로고    scopus 로고
    • Long-term results of intravitreal bevacizumab injection for choroidal neovascularization secondary to angioig streaks
    • Sawa M, Gomi F, Tsujikawa M et al. (2009) Long-term results of intravitreal bevacizumab injection for choroidal neovascularization secondary to angioig streaks. Am J Ophthal-mol 148:584-90.e2.
    • (2009) Am J Ophthal-mol , vol.148
    • Sawa, M.1    Gomi, F.2    Tsujikawa, M.3
  • 82
    • 0036231565 scopus 로고    scopus 로고
    • MRP6 (ABCC6) detection in normal human tissues and tumors
    • Scheffer GL, Hu X, Pijnenborg AC et al. (2002) MRP6 (ABCC6) detection in normal human tissues and tumors. Lab Invest 82:515-518
    • (2002) Lab Invest , vol.82 , pp. 515-518
    • Scheffer, G.L.1    Hu, X.2    Pijnenborg, A.C.3
  • 83
    • 33749259783 scopus 로고    scopus 로고
    • Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course
    • Schön S, Schulz V, Prante C et al. (2006) Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course. J Med Genet 43:745-749
    • (2006) J Med Genet , vol.43 , pp. 745-749
    • Schön, S.1    Schulz, V.2    Prante, C.3
  • 84
    • 0033634633 scopus 로고    scopus 로고
    • Role of vitamin K and Gla proteins in the pathophysiology of osteoporosis and vascular calcification
    • Shearer MJ (2000) Role of vitamin K and Gla proteins in the pathophysiology of osteoporosis and vascular calcification. Curr Opin Clin Nutr Metab Care 3:433-438
    • (2000) Curr Opin Clin Nutr Metab Care , vol.3 , pp. 433-438
    • Shearer, M.J.1
  • 85
    • 0000852992 scopus 로고
    • Pseudoxanthoma elasticum
    • Strandberg J (1929) Pseudoxanthoma elasticum. Z Haut Geschlechtskr 31:689-694
    • (1929) Z Haut Geschlechtskr , vol.31 , pp. 689-694
    • Strandberg, J.1
  • 86
    • 0033930195 scopus 로고    scopus 로고
    • Mutations of the gene encoding the transmembrane transporter protein ABCC6 cause pseudoxantho-ma elasticum
    • Struk B, Cai L, Zäch S et al. (2000) Mutations of the gene encoding the transmembrane transporter protein ABCC6 cause pseudoxantho-ma elasticum. J Mol Med 78:282-286
    • (2000) J Mol Med , vol.78 , pp. 282-286
    • Struk, B.1    Cai, L.2    Zäch, S.3
  • 87
    • 43149118341 scopus 로고    scopus 로고
    • The role of ABC transporters in drug absorption, distribution, metabolism, excretion and toxicity (ASME-Tox
    • Szakács G, Váradi A, Ozvegy-Lacka C et al. (2008) The role of ABC transporters in drug absorption, distribution, metabolism, excretion and toxicity (ASME-Tox). Drug Discov Today 13:379-393
    • (2008) Drug Discov Today , vol.13 , pp. 379-393
    • Szakács, G.1    Váradi, A.2    Ozvegy-Lacka, C.3
  • 88
    • 67649836055 scopus 로고    scopus 로고
    • Molecular therapies for heritable blistering diseases
    • Tamai K, Kaneda Y, Uitto J (2009) Molecular therapies for heritable blistering diseases. Trends Mol Med 15:285-292
    • (2009) Trends Mol Med , vol.15 , pp. 285-292
    • Tamai, K.1    Kaneda, Y.2    Uitto, J.3
  • 89
    • 49449088944 scopus 로고    scopus 로고
    • Placental calcification in pseudoxanthoma elasticum
    • Tan WC, Rodeck CH (2008) Placental calcification in pseudoxanthoma elasticum. Ann Acad Med Singapaore 37:598-600
    • (2008) Ann Acad Med Singapaore , vol.37 , pp. 598-600
    • Tan, W.C.1    Rodeck, C.H.2
  • 90
    • 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
    • Trip MD, Smulders YM, Wegman JJ et al. (2002) Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. Circulation 106:773-775
    • (2002) Circulation , vol.106 , pp. 773-775
    • Trip, M.D.1    Smulders, Y.M.2    Wegman, J.J.3
  • 91
    • 66749179401 scopus 로고    scopus 로고
    • Progress in heritable skin diseases: Translational implications of mutation analysis and prospects of molecular therapies
    • Uitto J (2009) Progress in heritable skin diseases: translational implications of mutation analysis and prospects of molecular therapies. Act Derm Venereol 89:228-235
    • (2009) Act Derm Venereol , vol.89 , pp. 228-235
    • Uitto, J.1
  • 92
    • 0034478001 scopus 로고    scopus 로고
    • Molecular genetics of pseudoxanthoma elasticum\-a metabolic disorder at the environment-genome interface?
    • Uitto J, Pulkkinen L, Ringpfeil F (2001) Molecular genetics of pseudoxanthoma elasticum\-a metabolic disorder at the environment-genome interface? Trends Mol Med 7:13-17
    • (2001) Trends Mol Med , vol.7 , pp. 13-17
    • Uitto, J.1    Pulkkinen, L.2    Ringpfeil, F.3
  • 93
    • 57649192355 scopus 로고    scopus 로고
    • Heritable diseases affecting the elastic fibers: Cutis laxa, pseu-doxanthoma elasticum and related disorders
    • Rimoin DL, Connor JM, Pyeritz RE, and Korf BR, eds Churchill Livingstone, Philadelphia. 5th ed
    • Uitto J, Ringpfeil F (2007) Heritable diseases affecting the elastic fibers: cutis laxa, pseu-doxanthoma elasticum and related disorders. In: Principles and Practice of Genetics. (Rimoin DL, Connor JM, Pyeritz RE, and Korf BR, eds). Churchill Livingstone, Philadelphia. 5th ed 3647-3670
    • (2007) Principles and Practice of Genetics , pp. 3647-3670
    • Uitto, J.1    Ringpfeil, F.2
  • 94
    • 33847067547 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity
    • Vanakker OM, Martin L, Gheduzzi D et al. (2007) Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol 27:581-587
    • (2007) J Invest Dermatol , vol.27 , pp. 581-587
    • Vanakker, O.M.1    Martin, L.2    Gheduzzi, D.3
  • 95
    • 1942486773 scopus 로고    scopus 로고
    • Osteogenic regulation of vascular calcification: An early perspective
    • Vattikuti R, Towler DA (2004) Osteogenic regulation of vascular calcification: an early perspective. Am J Physiol Endocrinol Metab 286:E686-96
    • (2004) Am J Physiol Endocrinol Metab , vol.286
    • Vattikuti, R.1    Towler, D.A.2
  • 96
    • 58349099619 scopus 로고    scopus 로고
    • Intravitreal bevacizumab (Avastin) treatment of choroidal neovascularization in patients with angioid streaks
    • Wiegand TW, Rogers AH, McCabe F et al. (2009) Intravitreal bevacizumab (Avastin) treatment of choroidal neovascularization in patients with angioid streaks. Br J Ophthalmol 93: 47-51
    • (2009) Br J Ophthalmol , vol.93 , pp. 47-51
    • Wiegand, T.W.1    Rogers, A.H.2    McCabe, F.3
  • 97
    • 34848863392 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: Genetic variations in antioxidant genes are risk factors for early disease onset
    • Zarbock R, Hendig D, Szliska C et al. (2007) Pseudoxanthoma elasticum: genetic variations in antioxidant genes are risk factors for early disease onset. Clin Chem 53:1734-1740
    • (2007) Clin Chem , vol.53 , pp. 1734-1740
    • Zarbock, R.1    Hendig, D.2    Szliska, C.3
  • 98
    • 68749107087 scopus 로고    scopus 로고
    • Vascular endothelial growth factor gene polymorphisms as prognostic markers for ocular manifestations in pseudoxanthoma elasticum
    • Zarbock R, Hendig D, Szliska C et al. (2009) Vascular endothelial growth factor gene polymorphisms as prognostic markers for ocular manifestations in pseudoxanthoma elasticum. Hum Mol Genet 18:3344-3351
    • (2009) Hum Mol Genet , vol.18 , pp. 3344-3351
    • Zarbock, R.1    Hendig, D.2    Szliska, C.3


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