-
1
-
-
0023744791
-
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
-
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
-
3
-
-
17744395280
-
Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with β-thalassemia
-
DOI 10.1067/mjd.2001.110045
-
Baccarani-Contri M, Bacchelli B, Boraldi F, Quaglino D, Taparelli F, Carnevali E, Francomano MA, Seidenari S, Bettoli V, De Sanctis V, Pasquali-Ronchetti I,. Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with beta-thalassemia. J Am Acad Dermatol 2001; 44: 33-9. (Pubitemid 32110560)
-
(2001)
Journal of the American Academy of Dermatology
, vol.44
, Issue.1
, pp. 33-39
-
-
Baccarani-Contri, M.1
Bacchelli, B.2
Boraldi, F.3
Quaglino, D.4
Taparelli, F.5
Carnevali, E.6
Francomano, M.A.7
Seidenari, S.8
Bettoli, V.9
De Sanctis, V.10
Pasquali-Ronchetti, I.11
-
4
-
-
0041410231
-
Acquired Pseudoxanthoma elasticum-like syndrome in β-thalassaemia patients
-
DOI 10.1046/j.1365-2141.2003.04484.x
-
Hamlin N, Beck K, Bacchelli B, Cianciulli P, Pasquali-Ronchetti I, Le Saux O,. Acquired pseudoxanthoma elasticum-like syndrome in beta-thalassemia patients. Br J Haematol 2003; 122: 852-4. (Pubitemid 37100315)
-
(2003)
British Journal of Haematology
, vol.122
, Issue.5
, pp. 852-854
-
-
Hamlin, N.1
Beck, K.2
Bacchelli, B.3
Cianciulli, P.4
Pasquali-Ronchetti, I.5
Le Saux, O.6
-
5
-
-
33847067547
-
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity
-
Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, Matthys D, Terry SF, Coucke PJ, Pasquali-Ronchetti I, De Paepe A,. Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol 2007; 127: 581-7.
-
(2007)
J Invest Dermatol
, vol.127
, pp. 581-587
-
-
Vanakker, O.M.1
Martin, L.2
Gheduzzi, D.3
Leroy, B.P.4
Loeys, B.L.5
Guerci, V.I.6
Matthys, D.7
Terry, S.F.8
Coucke, P.J.9
Pasquali-Ronchetti, I.10
De Paepe, A.11
-
6
-
-
59649091261
-
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
-
7
-
-
59949086567
-
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes
-
Li Q, Grange DK, Armstrong NL, Whelan AJ, Hurley MY, Rishavy MA, Hallgren KW, Berkner KL, Schurgers LJ, Jiang Q, Uitto J,. Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. J Invest Dermatol 2009; 129: 553-63.
-
(2009)
J Invest Dermatol
, vol.129
, pp. 553-563
-
-
Li, Q.1
Grange, D.K.2
Armstrong, N.L.3
Whelan, A.J.4
Hurley, M.Y.5
Rishavy, M.A.6
Hallgren, K.W.7
Berkner, K.L.8
Schurgers, L.J.9
Jiang, Q.10
Uitto, J.11
-
8
-
-
0035102089
-
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
-
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
-
10
-
-
35348906644
-
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
-
DOI 10.1136/jmg.2007.051094
-
Pfendner E, Vanakker O, Terry SF, Vourthis S, McAndrew P, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, DePaepe A, Uitto J, Bercovitch LG,. 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: 621-8. (Pubitemid 47584754)
-
(2007)
Journal of Medical Genetics
, vol.44
, Issue.10
, pp. 621-628
-
-
Pfendner, E.G.1
Vanakker, O.M.2
Terry, S.F.3
Vourthis, S.4
McAndrew, P.E.5
McClain, M.R.6
Fratta, S.7
Marais, A.-S.8
Hariri, S.9
Coucke, P.J.10
Ramsay, M.11
Viljoen, D.12
Terry, P.F.13
De Paepe, A.14
Uitto, J.15
Bercovitch, L.G.16
-
11
-
-
38849135998
-
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart
-
Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, Terry SF, Van Acker P, Matthys D, Loeys B, De Paepe A,. Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum Mut 2008; 29: 205.
-
(2008)
Hum Mut
, vol.29
, pp. 205
-
-
Vanakker, O.M.1
Leroy, B.P.2
Coucke, P.3
Bercovitch, L.G.4
Uitto, J.5
Viljoen, D.6
Terry, S.F.7
Van Acker, P.8
Matthys, D.9
Loeys, B.10
De Paepe, A.11
-
12
-
-
33745031816
-
Pseudoxanthoma elasticum: Evaluation of diagnostic criteria based on molecular data
-
DOI 10.1111/j.1365-2133.2006.07278.x
-
Christen-Zäch S, Huber M, Struk B, Lindpaintner K, Munier F, Panizzon RG, Hohl D,. Pseudoxanthoma elasticum: evaluation of diagnostic criteria based on molecular data. Br J Dermatol 2006; 155: 89-93. (Pubitemid 43876398)
-
(2006)
British Journal of Dermatology
, vol.155
, Issue.1
, pp. 89-93
-
-
Christen-Zach, S.1
Huber, M.2
Struk, B.3
Lindpaintner, K.4
Munier, F.5
Panizzon, R.G.6
Hohl, D.7
-
13
-
-
77955884123
-
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
-
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
-
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
-
16
-
-
0034024296
-
A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: High-resolution mapping and genomic structure
-
DOI 10.1007/s001090000079
-
Cai L, Struk B, Adams MD, Ji W, Haaf T, Kang H-L, Dho SH, Xu X, Ringpfeil F, Nancarrow J, Zäch S, Schaen L, Niu T, Chung J, Lunze K, Verrecchia B, Goldsmith LA, Viljoen D, Figuera LE, Fuchs W, Lebwohl M, Uitto J, Richards R, Hohl D, Ramesar R, Callen DF, Kim U-J, Doggett NA, Neldner KH, Lindpaintner K,. A 500 Kb region on chromosome 16p13/1 contains the pseudoxanthoma elasticum locus: High resolution mapping and genomic structure. J Mol Med 2000; 8: 36-46. (Pubitemid 30164437)
-
(2000)
Journal of Molecular Medicine
, vol.78
, Issue.1
, pp. 36-46
-
-
Cai, L.1
Struk, B.2
Adams, M.D.3
Ji, W.4
Haaf, T.5
Kang, H.-L.6
Dho, S.H.7
Xu, X.8
Ringpfeil, F.9
Nancarrow, J.10
Zach, S.11
Schaen, L.12
Stumm, M.13
Niu, T.14
Chung, J.15
Lunze, K.16
Verrecchia, B.17
Goldsmith, L.A.18
Viljoen, D.19
Figuera, L.E.20
Fuchs, W.21
Lebwohl, M.22
Uitto, J.23
Richards, R.24
Hohl, D.25
Ramesar, R.26
Callen, D.F.27
Kim, U.-J.28
Doggett, N.A.29
Neldner, K.H.30
Lindpaintner, K.31
more..
-
17
-
-
0032759541
-
Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16
-
Le Saux O, Urban Z, Göring HH, Csiszar K, Pope FM, Richards A, Pasquali-Ronchetti I, Terry S, Bercovitch L, Lebwohl MG, Breuning M, Van Den Berg P, Kornet L, Doggett N, Ott J, de Jong PT, Bergen AA, Boyd CD,. Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16. Genomics 1999; 62: 1-10.
-
(1999)
Genomics
, vol.62
, pp. 1-10
-
-
Le Saux, O.1
Urban, Z.2
Göring, H.H.3
Csiszar, K.4
Pope, F.M.5
Richards, A.6
Pasquali-Ronchetti, I.7
Terry, S.8
Bercovitch, L.9
Lebwohl, M.G.10
Breuning, M.11
Van Den Berg, P.12
Kornet, L.13
Doggett, N.14
Ott, J.15
De Jong, P.T.16
Bergen, A.A.17
Boyd, C.D.18
-
18
-
-
0034705145
-
Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
-
DOI 10.1073/pnas.100041297
-
Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J,. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci USA 2000; 97: 6001-6. (Pubitemid 30367513)
-
(2000)
Proceedings of the National Academy of Sciences of the United States of America
, vol.97
, Issue.11
, pp. 6001-6006
-
-
Ringpfeil, F.1
Lebwohl, M.G.2
Christiano, A.M.3
Uitto, J.4
-
19
-
-
0034123093
-
Mutations in ABCC6 cause pseudoxanthoma elasticum
-
DOI 10.1038/76109
-
Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning M, Dauwerse H, Swart J, Kool M, van Soest S, Baas F, ten Brink JB, de Jong PT,. Mutations in ABCC6 cause pseudoxanthoma elasti-cum. Nat Genet 2000; 25: 228-31. (Pubitemid 30394999)
-
(2000)
Nature Genetics
, vol.25
, Issue.2
, pp. 228-231
-
-
Bergen, A.A.B.1
Plomp, A.S.2
Schuurman, E.J.3
Terry, S.4
Breuning, M.5
Dauwerse, H.6
Swart, J.7
Kool, M.8
Van Soest, S.9
Baas, F.10
Ten Brink, J.B.11
De Jong, P.T.V.M.12
-
20
-
-
18844465976
-
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
-
DOI 10.1038/76102
-
Le Saux O, Uran Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD,. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet 2000; 25: 223-7. (Pubitemid 30394998)
-
(2000)
Nature Genetics
, vol.25
, Issue.2
, pp. 223-227
-
-
Le Saux, O.1
Urban, Z.2
Tschuch, C.3
Csiszar, K.4
Bacchelli, B.5
Quaglino, D.6
Pasquali-Ronchetti, I.7
Pope, F.M.8
Richards, A.9
Terry, S.10
Bercovitch, L.11
De Paepe, A.12
Boyd, C.D.13
-
21
-
-
0033930195
-
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
-
Struk B, Cai L, Zäch S, Ji W, Chung J, Lumsden A, Stumm M, Huber M, Schaen L, Kim CA, Goldsmith LA, Vil-joen D, Figuera LE, Fuchs W, Munier F, Ramesar R, Hohl D, Richards R, Neldner KH, Lindpaintner K,. Mutations of the gene encoding the transmembrane transporter protein ABCC6 cause pseudoxanthoma elasticum. J Mol Med 2000; 78: 282-6. (Pubitemid 30489712)
-
(2000)
Journal of Molecular Medicine
, vol.78
, Issue.5
, pp. 282-286
-
-
Struk, B.1
Cai, L.2
Zach, S.3
Ji, W.4
Chung, J.5
Lumsden, A.6
Stumm, M.7
Huber, M.8
Schaen, L.9
Kim, C.-A.10
Goldsmith, L.A.11
Viljoen, D.12
Figuera, L.E.13
Fuchs, W.14
Munier, F.15
Ramesar, R.16
Hohl, D.17
Richards, R.18
Neldner, K.H.19
Lindpaintner, K.20
more..
-
22
-
-
35448946448
-
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
-
23
-
-
26444436944
-
Disruption of Abcc6 in the mouse: Novel insight in the pathogenesis of pseudoxanthoma elasticum
-
DOI 10.1093/hmg/ddi183
-
Gorgels TG, Hu X, Scheffer GL, Van Der Wal AC, Toonstra J, de Jong PT, van Kuppevelt TH, Levelt CN, de Wolf A, Loves WJ, Scheper RJ, Peek R, Bergen AA,. Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. Hum Mol Genet 2005; 14: 1763-73. (Pubitemid 41418048)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.13
, pp. 1763-1773
-
-
Gorgels, T.G.M.F.1
Hu, X.2
Scheffer, G.L.3
Van Der Wal, A.C.4
Toonstra, J.5
De Jong, P.T.V.M.6
Van Kuppevelt, T.H.7
Levelt, C.N.8
De Wolf, A.9
Loves, W.J.P.10
Scheper, R.J.11
Peek, R.12
Bergen, A.A.B.13
-
24
-
-
24344480438
-
Targeted ablation of the Abcc6 gene results in ectopic mineralization of connective tissues
-
DOI 10.1128/MCB.25.18.8299-8310.2005
-
Klement JF, Matsuzaki Y, Jiang Q-J, Terlizzi J, Choi HY, Fujimoto N, Li K, Pulkkinen L, Birk DE, Sundberg JP, Uitto J,. Targeted ablation of the Abcc6 gene results in ectopic mineralization of connective tissues. Mol Cell Biol 2005; 25: 8299-310. (Pubitemid 41263018)
-
(2005)
Molecular and Cellular Biology
, vol.25
, Issue.18
, pp. 8299-8310
-
-
Klement, J.F.1
Matsuzaki, Y.2
Jiang, Q.-J.3
Terlizzi, J.4
Choi, H.Y.5
Fujimoto, N.6
Li, K.7
Pulkkinen, L.8
Birk, D.E.9
Sundberg, J.P.10
Uitto, J.11
-
25
-
-
33847053974
-
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
-
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
-
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
-
28
-
-
0036231565
-
MRP6 (ABCC6) detection in normal human tissues and tumors
-
Scheffer GL, Hu X, Pijnenborg AC, Wijnholds J, Bergen AA, Scheper RJ,. MRP6 (ABCC6) detection in normal human tissues and tumors. Lab Invest 2002; 82: 515-8. (Pubitemid 34311123)
-
(2002)
Laboratory Investigation
, vol.82
, Issue.4
, pp. 515-518
-
-
Scheffer, G.L.1
Hu, X.2
Pijnenborg, A.C.L.M.3
Wijnholds, J.4
Bergen, A.A.B.5
Scheper, R.J.6
-
29
-
-
58449106109
-
Pseudoxanthoma elasticum is a metabolic disease
-
Jiang Q, Endoh M, Dibra F, Wang F, Uitto J,. Pseudoxanthoma elasticum is a metabolic disease. J Invest Dermatol 2009; 129: 348-53.
-
(2009)
J Invest Dermatol
, vol.129
, pp. 348-353
-
-
Jiang, Q.1
Endoh, M.2
Dibra, F.3
Wang, F.4
Uitto, J.5
-
30
-
-
40949143530
-
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
-
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
-
32
-
-
77954588638
-
Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome
-
Vanakker OM, Martin L, Schurgers LJ, Quaglino D, Costrop L, Vermeer C, Pasquali-Ronchetti I, Coucke PJ, De Paepe A,. Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome. Lab Invest 2010; 90: 895-905.
-
(2010)
Lab Invest
, vol.90
, pp. 895-905
-
-
Vanakker, O.M.1
Martin, L.2
Schurgers, L.J.3
Quaglino, D.4
Costrop, L.5
Vermeer, C.6
Pasquali-Ronchetti, I.7
Coucke, P.J.8
De Paepe, A.9
-
33
-
-
34548779758
-
Matrix Gla protein is involved in elastic fiber calcification in the dermis of pseudoxanthoma elasticum patients
-
DOI 10.1038/labinvest.3700667, PII 3700667
-
Gheduzzi D, Boraldi F, Annovi G, DeVincenzi CP, Schurgers LJ, Vermeer C, Quaglino D, Ronchetti IP,. Matrix Gla protein is involved in elastic fiber calcification in the dermis of pseudoxanthoma elasticum patients. Lab Invest 2007; 87: 998-1008. (Pubitemid 47429193)
-
(2007)
Laboratory Investigation
, vol.87
, Issue.10
, pp. 998-1008
-
-
Gheduzzi, D.1
Boraldi, F.2
Annovi, G.3
DeVincenzi, C.P.4
Schurgers, L.J.5
Vermeer, C.6
Quaglino, D.7
Pasquali Ronchetti, I.8
-
35
-
-
0021749407
-
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
-
-/- 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
-
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
-
-/-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
-
41
-
-
25844521222
-
Oral phosphate binders in the treatment of pseudoxanthoma elasticum
-
DOI 10.1016/j.jaad.2004.11.066, PII S0190962204039660
-
Sherer DW, Singer G, Uribarri J, Phelps RG, Sapadin AN, Freund KB, Yanuzzi L, Fuchs W, Lebwohl M,. Oral phosphate binders in the treatment of pseudoxanthoma elasticum. J Am Acad Dermatol 2005; 53: 610-5. (Pubitemid 41399927)
-
(2005)
Journal of the American Academy of Dermatology
, vol.53
, Issue.4
, pp. 610-615
-
-
Sherer, D.W.1
Singer, G.2
Uribarri, J.3
Phelps, R.G.4
Sapadin, A.N.5
Freund, K.B.6
Yanuzzi, L.7
Fuchs, W.8
Lebwohl, M.9
-
42
-
-
79959509616
-
A randomized controlled trial of oral phosphate binders in the treatment of pseudoxan-thoma elasticum
-
(in press
-
Yoo JY, Blum RR, Singer GK, Stern DK, Emanuel PO, Fuchs W, Phelps RG, Terry SF, Lebwohl M,. A randomized controlled trial of oral phosphate binders in the treatment of pseudoxan-thoma elasticum. J Am Acad Dermatol 2011 (in press).
-
(2011)
J Am Acad Dermatol
-
-
Yoo, J.Y.1
Blum, R.R.2
Singer, G.K.3
Stern, D.K.4
Emanuel, P.O.5
Fuchs, W.6
Phelps, R.G.7
Terry, S.F.8
Lebwohl, M.9
-
43
-
-
68649089108
-
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
-
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
-
45
-
-
78549279173
-
Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation
-
Accurso FJ, Rowe SM, Clancy JP, Boyle MP, Dunitz JM, Durie PR, Sagel SD, Hornick DB, Konstan MW, Donaldson SH, Moss RB, Pilewski JM, Rubenstein RC, Uluer AZ, Aitken ML, Freedman SD, Rose LM, Mayer-Hamblett N, Dong Q, Zha J, Stone AJ, Olson ER, Ordoñez CL, Campbell PW, Ashlock MA, Ramsey BW,. Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. N Engl J Med 2010; 363: 1991-2003.
-
(2010)
N Engl J Med
, vol.363
, pp. 1991-2003
-
-
Accurso, F.J.1
Rowe, S.M.2
Clancy, J.P.3
Boyle, M.P.4
Dunitz, J.M.5
Durie, P.R.6
Sagel, S.D.7
Hornick, D.B.8
Konstan, M.W.9
Donaldson, S.H.10
Moss, R.B.11
Pilewski, J.M.12
Rubenstein, R.C.13
Uluer, A.Z.14
Aitken, M.L.15
Freedman, S.D.16
Rose, L.M.17
Mayer-Hamblett, N.18
Dong, Q.19
Zha, J.20
Stone, A.J.21
Olson, E.R.22
Ordoñez, C.L.23
Campbell, P.W.24
Ashlock, M.A.25
Ramsey, B.W.26
more..
-
46
-
-
79551631405
-
Efficient generation of hepatoblasts from human ES cells and iPS cells by transient overexpression of homeobox gene HEX
-
Inamura M, Kawabata K, Takayama K, Tashiro K, Sakurai F, Katayama K, Toyoda M, Akutsu H, Miyagawa Y, Okita H, Kiyokawa N, Umezawa A, Hayakawa T, Furue MK, Mizuguchi H,. Efficient generation of hepatoblasts from human ES cells and iPS cells by transient overexpression of homeobox gene HEX. Mol Ther 2011; 19: 400-7.
-
(2011)
Mol Ther
, vol.19
, pp. 400-407
-
-
Inamura, M.1
Kawabata, K.2
Takayama, K.3
Tashiro, K.4
Sakurai, F.5
Katayama, K.6
Toyoda, M.7
Akutsu, H.8
Miyagawa, Y.9
Okita, H.10
Kiyokawa, N.11
Umezawa, A.12
Hayakawa, T.13
Furue, M.K.14
Mizuguchi, H.15
|