메뉴 건너뛰기




Volumn 9, Issue 8, 2011, Pages 586-593

Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders - Can diet help?;Pseudoxanthoma elasticum, das Paradigma einer erblichen Störung des Mineralstoffwechsels - Therapie durch Diät?

Author keywords

ectopic mineralization disorders; magnesium enriched diet; phosphate binders; pseudoxanthoma elasticum

Indexed keywords

ABC TRANSPORTER; MAGNESIUM; PROTEIN ABCC6; UNCLASSIFIED DRUG; VITAMIN K GROUP;

EID: 79961001056     PISSN: 16100379     EISSN: 16100387     Source Type: Journal    
DOI: 10.1111/j.1610-0387.2011.07658.x     Document Type: Review
Times cited : (16)

References (46)
  • 1
    • 0023744791 scopus 로고
    • Pseudoxanthoma elasticum
    • Neldner KH,. Pseudoxanthoma elasticum. Clin Dermatol 1988; 6: 1-159.
    • (1988) Clin Dermatol , vol.6 , pp. 1-159
    • Neldner, K.H.1
  • 2
    • 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
  • 6
    • 59649091261 scopus 로고    scopus 로고
    • Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: Compound heterozygosity for mutations in the GGCX gene
    • Li Q, Schurgers LJ, Smith AC, Tsokos M, Uitto J, Cowen EW,. Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene. Am J Pathol 2009; 174: 534-40.
    • (2009) Am J Pathol , vol.174 , pp. 534-540
    • Li, Q.1    Schurgers, L.J.2    Smith, A.C.3    Tsokos, M.4    Uitto, J.5    Cowen, E.W.6
  • 8
    • 0035102089 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: Significance of limited phenotypic expression in parents of affected offspring
    • DOI 10.1067/mjd.2001.112401
    • Sherer DW, Bercovitch L, Lebwohl M,. Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring. J Am Acad Dermatol 2001; 44: 534-7. (Pubitemid 32199982)
    • (2001) Journal of the American Academy of Dermatology , vol.44 , Issue.3 , pp. 534-537
    • Sherer, D.W.1    Bercovitch, L.2    Lebwohl, M.3
  • 9
    • 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
    • DOI 10.1001/archderm.144.3.301
    • Martin L, Maëtre 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 definition of PXE. Arch Dermatol 2008; 144: 301-6. (Pubitemid 351439112)
    • (2008) Archives of Dermatology , vol.144 , Issue.3 , pp. 301-306
    • Martin, L.1    Matre, F.2    Bonicel, P.3    Daudon, P.4    Verny, C.5    Bonneau, D.6    Le Saux, O.7    Chassaing, N.8
  • 13
    • 77955884123 scopus 로고    scopus 로고
    • Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum - Presym-ptomatic testing with prognostic implications
    • Li Q, Török L, Kocsis L, Uitto J,. Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum-presym-ptomatic testing with prognostic implications. Brit J Dermatol 2010; 163: 641-3.
    • (2010) Brit J Dermatol , vol.163 , pp. 641-643
    • Li, Q.1    Török, L.2    Kocsis, L.3    Uitto, J.4
  • 14
    • 0035065214 scopus 로고    scopus 로고
    • Patient advocacy organizations partner genetic research, and forge the agenda
    • DOI 10.1016/S1471-4914(01)01958-X
    • Uitto J,. Patient advocacy organizations partner genetic research and forge the agenda. Trends Mol Med 2001; 7: 182-3. (Pubitemid 32280379)
    • (2001) Trends in Molecular Medicine , vol.7 , Issue.4 , pp. 182-183
    • Uitto, J.1
  • 15
    • 33846296952 scopus 로고    scopus 로고
    • Advocacy groups as research organizations: The PXE International example
    • DOI 10.1038/nrg1991, PII NRG1991
    • Terry SF, Terry PF, Rauen KA, Uitto J, Bercovitch LG,. Advocacy groups as research organizations: the PXE international example. Nat Rev Genet 2007; 8: 157-64. (Pubitemid 46122844)
    • (2007) Nature Reviews Genetics , vol.8 , Issue.2 , pp. 157-164
    • Terry, S.F.1    Terry, P.F.2    Rauen, K.A.3    Uitto, J.4    Bercovitch, L.G.5
  • 22
    • 35448946448 scopus 로고    scopus 로고
    • Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxant-homa elasticum in French patients
    • Chassaing N, Martin L, Bourthoumieu S, Calvas P, Hovnanian A,. Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxant-homa elasticum in French patients. Hum Mutat 2007; 28: 1046.
    • (2007) Hum Mutat , vol.28 , pp. 1046
    • Chassaing, N.1    Martin, L.2    Bourthoumieu, S.3    Calvas, P.4    Hovnanian, A.5
  • 25
    • 33847053974 scopus 로고    scopus 로고
    • Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: Systemic and local regulatory factors
    • DOI 10.1038/sj.jid.5700729, PII 5700729
    • Jiang Q, Li Q, Uitto J,. Aberrant mineralization of connective tissue in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors. J Invest Dermatol 2007; 127: 1392-402. (Pubitemid 46762987)
    • (2007) Journal of Investigative Dermatology , vol.127 , Issue.6 , pp. 1392-1402
    • Jiang, Q.1    Li, Q.2    Uitto, J.3
  • 26
    • 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
    • Jiang Q, Oldenburg R, Otsuru S, Grand-Pierre AE, Horwitz EM, Uitto J,. Parabiotic heterogenetic pairing of Abcc6-/-; Rag1-/- mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum. Am J Pathol 2010; 176: 1855-62.
    • (2010) Am J Pathol , vol.176 , pp. 1855-1862
    • Jiang, Q.1    Oldenburg, R.2    Otsuru, S.3    Grand-Pierre, A.E.4    Horwitz, E.M.5    Uitto, J.6
  • 27
    • 0033020785 scopus 로고    scopus 로고
    • MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver
    • DOI 10.1038/sj.bjc.6690527
    • Belinsky MG, Kruh GD,. MOAT-E (ARA) is a full length MRP/cMOAT subfamily transporter expressed in kidney and liver. Br J Cancer 1999; 80: 1342-9. (Pubitemid 29308601)
    • (1999) British Journal of Cancer , vol.80 , Issue.9 , pp. 1342-1349
    • Belinsky, M.G.1    Kruh, G.D.2
  • 30
    • 40949143530 scopus 로고    scopus 로고
    • Vitamin K-dependent carboxylation
    • Berkner KL,. Vitamin K-dependent carboxylation. Vitam Horm 2008; 78: 131-56.
    • (2008) Vitam Horm , vol.78 , pp. 131-156
    • Berkner, K.L.1
  • 31
    • 0030947025 scopus 로고    scopus 로고
    • Spontaneous calcification of arteries and cartilage in mice lacking matrix GLA protien
    • DOI 10.1038/386078a0
    • Lou G, Ducy P, McKee MD, Pinero GJ, Loyer E, Behringer RR, Karsenty G,. Spontaneous calcification of arteries and cartilage in mice lacking matrix GLA protein. Nature 1997; 386: 78-81. (Pubitemid 27130923)
    • (1997) Nature , vol.386 , Issue.6620 , pp. 78-81
    • Luo, G.1    Ducy, P.2    McKee, M.D.3    Pinero, G.J.4    Loyer, E.5    Behringer, R.R.6    Karsenty, G.7
  • 35
    • 0021749407 scopus 로고
    • Pseudoxanthoma elasticum: High calcium intake in early life correlates with severity
    • DOI 10.1002/ajmg.1320190205
    • Renie WA, Pyeritz RE, Combs J, Fine SL,. Pseudoxanthoma elasticum: High calcium intake in early life correlates with severity. Am J Med Genet 1984; 19: 235-44. (Pubitemid 15209870)
    • (1984) American Journal of Medical Genetics , vol.19 , Issue.2 , pp. 235-244
    • Renie, W.A.1    Pyeritz, R.E.2    Combs, J.3    Fine, S.L.4
  • 36
    • 39049170602 scopus 로고    scopus 로고
    • -/- mice: Effects of dietary modifications and a phosphate binder - A preliminary study
    • DOI 10.1111/j.1600-0625.2007.00645.x
    • -/-mice: Effects of dietary modifications and a phosphate binder-a preliminary study. Exp Dermatol 2008; 17: 203-7. (Pubitemid 351233865)
    • (2008) Experimental Dermatology , vol.17 , Issue.3 , pp. 203-207
    • Larusso, J.1    Jiang, Q.2    Li, Q.3    Uitto, J.4
  • 39
    • 77954562710 scopus 로고    scopus 로고
    • Dietary magnesium, not calcium, prevents vascular calcification in a mouse model for pseudoxanthoma elasticum
    • Gorgels TG, Waarsing JH, de Wolf A, ten Brink JB, Loves WJ, Bergen AA,. Dietary magnesium, not calcium, prevents vascular calcification in a mouse model for pseudoxanthoma elasticum. J Mol Med 2010; 88: 467-75.
    • (2010) J Mol Med , vol.88 , pp. 467-475
    • Gorgels, T.G.1    Waarsing, J.H.2    De Wolf, A.3    Ten Brink, J.B.4    Loves, W.J.5    Bergen, A.A.6
  • 40
    • 76649116557 scopus 로고    scopus 로고
    • -/-mice is affected by Ggcx gene deficiency and genetic background - A model for pseudoxanthoma elasticum
    • -/-mice is affected by Ggcx gene deficiency and genetic background-a model for pseudoxanthoma elasticum. J Mol Med 2010; 88: 173-81.
    • (2010) J Mol Med , vol.88 , pp. 173-181
    • Li, Q.1    Uitto, J.2
  • 43
    • 68649089108 scopus 로고    scopus 로고
    • Pharmaceuticals targeting nonsense mutations in genetic diseases: Progress in development
    • Rowe SM, Clancy UP,. Pharmaceuticals targeting nonsense mutations in genetic diseases: progress in development. BioDrugs 2009; 23: 165-74.
    • (2009) BioDrugs , vol.23 , pp. 165-174
    • Rowe, S.M.1    Clancy, U.P.2
  • 44
    • 36348931759 scopus 로고    scopus 로고
    • Modulation of epithelial sodium channel trafficking and function by sodium 4-phenylbutyrate in human nasal epithelial cells
    • DOI 10.1074/jbc.M702384200
    • Prulioère-Escabasse V, Planès C, Escudier E, Fanen P, Coste A, Clerici C,. Modulation of epithelial sodium channel trafficking and function by sodium 4-phenylbutyrate in human nasal epithelial cells. J Biol Chem 2007; 282: 34048-57. (Pubitemid 350159462)
    • (2007) Journal of Biological Chemistry , vol.282 , Issue.47 , pp. 34048-34057
    • Pruliere-Escabasse, V.1    Planes, C.2    Escudier, E.3    Fanen, P.4    Coste, A.5    Clerici, C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.