-
1
-
-
43149100350
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
66
-
-
35348906644
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|