-
1
-
-
18844465976
-
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
-
Le Saux O., Urban Z., Tschuch C., Csiszar K., Bacchelli B., Quaglino D., Pasquali-Ronchetti I., Pope F.M., Richards A., Terry S., Bercovitch L., de Paepe A., Boyd C.D. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat. Genet. 25:2000;223-227.
-
(2000)
Nat. Genet.
, vol.25
, 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
-
2
-
-
0034123093
-
Mutations in ABCC6 cause pseudoxanthoma elasticum
-
Bergen A.A., Plomp A.S., Schuurman E.J., Terry S., Breuning M., Dauwerse H., Swart J., Kool M., van Soest S., Baas F., ten Brink J.B., de Jong P.T. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat. Genet. 25:2000;228-231.
-
(2000)
Nat. Genet.
, vol.25
, pp. 228-231
-
-
Bergen, A.A.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.12
-
3
-
-
0034705145
-
Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
-
Ringpfeil F., Lebwohl M.G., Christiano A.M., Uitto J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc. Natl. Acad. Sci. USA. 97:2000;6001-6006.
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 6001-6006
-
-
Ringpfeil, F.1
Lebwohl, M.G.2
Christiano, A.M.3
Uitto, J.4
-
4
-
-
0033930195
-
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
-
Struk B., Cai L., Zach S., Ji W., Chung J., Lumsden A., Stumm M., Huber M., Schaen L., Kim C.A., Goldsmith L.A., Viljoen D., Figuera L.E., Fuchs W., Munier F., Ramesar R., Hohl D., Richards R., Neldner K.H., Lindpaintner K. Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. J. Mol. Med. 78:2000;282-286.
-
(2000)
J. Mol. Med.
, vol.78
, 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..
-
5
-
-
0034323580
-
Identification of two polymorphisms (c189G > C; C190T > C) in exon 2 of the human MRP6 gene (ABCC6) by screening of Pseudoxanthoma elasticum patients: Possible sequence correction?
-
Germain D.P., Remones V., Perdu J., Jeunemaitre X. Identification of two polymorphisms (c189G. > C; c190T > C) in exon 2 of the human MRP6 gene (ABCC6) by screening of Pseudoxanthoma elasticum patients: possible sequence correction? Hum. Mutat. 16:2000;449.
-
(2000)
Hum. Mutat.
, vol.16
, pp. 449
-
-
Germain, D.P.1
Remones, V.2
Perdu, J.3
Jeunemaitre, X.4
-
6
-
-
0034596276
-
Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing
-
Germain D.P., Perdu J., Remones V., Jeunemaitre X. Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing. Biochem. Biophys. Res. Commun. 274:2000;297-301.
-
(2000)
Biochem. Biophys. Res. Commun.
, vol.274
, pp. 297-301
-
-
Germain, D.P.1
Perdu, J.2
Remones, V.3
Jeunemaitre, X.4
-
7
-
-
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., Pulkkinen L. 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. 68:2001;642-652.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 642-652
-
-
Ringpfeil, F.1
Nakano, A.2
Uitto, J.3
Pulkkinen, L.4
-
8
-
-
0034835028
-
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum
-
Le Saux O., Beck K., Sachsinger C., Silvestri C., Treiber C., Goring H.H., Johnson E.W., De Paepe A., Pope F.M., Pasquali-Ronchetti I., Bercovitch L., Marais A.S., Viljoen D.L., Terry S.F., Boyd C.D. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am. J. Hum. Genet. 69:2001;749-764.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 749-764
-
-
Le Saux, O.1
Beck, K.2
Sachsinger, C.3
Silvestri, C.4
Treiber, C.5
Goring, H.H.6
Johnson, E.W.7
De Paepe, A.8
Pope, F.M.9
Pasquali-Ronchetti, I.10
Bercovitch, L.11
Marais, A.S.12
Viljoen, D.L.13
Terry, S.F.14
Boyd, C.D.15
-
9
-
-
0037367740
-
ABCC6/MRP6 mutations: Further insight into the molecular pathology of pseudoxanthoma elasticum
-
Hu X., Plomp A., Wijnholds J., Ten Brink J., Van Soest S., Van Den Born L.I., Leys A., Peek R., De Jong P.T., Bergen A.A. ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum. Eur. J. Hum. Genet. 11:2003;215-224.
-
(2003)
Eur. J. Hum. Genet.
, vol.11
, pp. 215-224
-
-
Hu, X.1
Plomp, A.2
Wijnholds, J.3
Ten Brink, J.4
Van Soest, S.5
Van Den Born, L.I.6
Leys, A.7
Peek, R.8
De Jong, P.T.9
Bergen, A.A.10
-
10
-
-
0037072447
-
Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease
-
Trip M.D., Smulders Y.M., Wegman J.J., Hu X., Boer J.M., ten Brink J.B., Zwinderman A.H., Kastelein J.J., Feskens E.J., Bergen A.A. Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. Circulation. 106:2002;773-775.
-
(2002)
Circulation
, vol.106
, pp. 773-775
-
-
Trip, M.D.1
Smulders, Y.M.2
Wegman, J.J.3
Hu, X.4
Boer, J.M.5
Ten Brink, J.B.6
Zwinderman, A.H.7
Kastelein, J.J.8
Feskens, E.J.9
Bergen, A.A.10
-
11
-
-
0030014846
-
Membrane topology and glycosylation of the human multidrug resistance-associated protein
-
Bakos E., Hegedus T., Hollo Z., Welker E., Tusnady G.E., Zaman G.J., Flens M.J., Varadi A., Sarkadi B. Membrane topology and glycosylation of the human multidrug resistance-associated protein. J. Biol. Chem. 271:1996;12322-12326.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 12322-12326
-
-
Bakos, E.1
Hegedus, T.2
Hollo, Z.3
Welker, E.4
Tusnady, G.E.5
Zaman, G.J.6
Flens, M.J.7
Varadi, A.8
Sarkadi, B.9
-
12
-
-
0030863293
-
Membrane topology of the multidrug resistance protein (MRP). A study of glycosylation-site mutants reveals an extracytosolic NH2 terminus
-
Hipfner D.R., Almquist K.C., Leslie E.M., Gerlach J.H., Grant C.E., Deeley R.G., Cole S.P. Membrane topology of the multidrug resistance protein (MRP). A study of glycosylation-site mutants reveals an extracytosolic NH2 terminus. J. Biol. Chem. 272:1997;23623-23630.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 23623-23630
-
-
Hipfner, D.R.1
Almquist, K.C.2
Leslie, E.M.3
Gerlach, J.H.4
Grant, C.E.5
Deeley, R.G.6
Cole, S.P.7
-
13
-
-
0030685129
-
Topology mapping of the amino-terminal half of multidrug resistance-associated protein by epitope insertion and immunofluorescence
-
Kast C., Gros P. Topology mapping of the amino-terminal half of multidrug resistance-associated protein by epitope insertion and immunofluorescence. J. Biol. Chem. 272:1997;26479-26487.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 26479-26487
-
-
Kast, C.1
Gros, P.2
-
14
-
-
0032562137
-
Epitope insertion favors a six transmembrane domain model for the carboxy-terminal portion of the multidrug resistance-associated protein
-
Kast C., Gros P. Epitope insertion favors a six transmembrane domain model for the carboxy-terminal portion of the multidrug resistance-associated protein. Biochemistry. 37:1998;2305-2313.
-
(1998)
Biochemistry
, vol.37
, pp. 2305-2313
-
-
Kast, C.1
Gros, P.2
-
15
-
-
0037053355
-
Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6)
-
Ilias A., Urban Z., Seidl T.L., Le Saux O., Sinko E., Boyd C.D., Sarkadi B., Varadi A. Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). J. Biol. Chem. 277:2002;16860-16867.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 16860-16867
-
-
Ilias, A.1
Urban, Z.2
Seidl, T.L.3
Le Saux, O.4
Sinko, E.5
Boyd, C.D.6
Sarkadi, B.7
Varadi, A.8
-
16
-
-
0037172785
-
Nucleotide binding and nucleotide hydrolysis properties of the ABC transporter MRP6 (ABCC6)
-
Cai J., Daoud R., Alqawi O., Georges E., Pelletier J., Gros P. Nucleotide binding and nucleotide hydrolysis properties of the ABC transporter MRP6 (ABCC6). Biochemistry. 41:2002;8058-8067.
-
(2002)
Biochemistry
, vol.41
, pp. 8058-8067
-
-
Cai, J.1
Daoud, R.2
Alqawi, O.3
Georges, E.4
Pelletier, J.5
Gros, P.6
-
17
-
-
0036829109
-
Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6)
-
Belinsky M.G., Chen Z.S., Shchaveleva I., Zeng H., Kruh G.D. Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6). Cancer Res. 62:2002;6172-6177.
-
(2002)
Cancer Res.
, vol.62
, pp. 6172-6177
-
-
Belinsky, M.G.1
Chen, Z.S.2
Shchaveleva, I.3
Zeng, H.4
Kruh, G.D.5
-
18
-
-
0032893268
-
Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells
-
Kool M., van der Linden M., de Haas M., Baas F., Borst P. Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells. Cancer Res. 59:1999;175-182.
-
(1999)
Cancer Res.
, vol.59
, pp. 175-182
-
-
Kool, M.1
Van der Linden, M.2
De Haas, M.3
Baas, F.4
Borst, P.5
-
19
-
-
0033020785
-
MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver
-
Belinsky M.G., Kruh G.D. MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver. Br. J. Cancer. 80:1999;1342-1349.
-
(1999)
Br. J. Cancer
, vol.80
, pp. 1342-1349
-
-
Belinsky, M.G.1
Kruh, G.D.2
-
20
-
-
0036231565
-
MRP6 (ABCC6) detection in normal human tissues and tumors
-
Scheffer G.L., Hu X., Pijnenborg A.C., Wijnholds J., Bergen A.A., Scheper R.J. MRP6 (ABCC6) detection in normal human tissues and tumors. Lab. Invest. 82:2002;515-518.
-
(2002)
Lab. Invest.
, vol.82
, pp. 515-518
-
-
Scheffer, G.L.1
Hu, X.2
Pijnenborg, A.C.3
Wijnholds, J.4
Bergen, A.A.5
Scheper, R.J.6
-
21
-
-
0034007737
-
Transport function and hepatocellular localization of mrp6 in rat liver
-
Madon J., Hagenbuch B., Landmann L., Meier P.J., Stieger B. Transport function and hepatocellular localization of mrp6 in rat liver. Mol. Pharmacol. 57:2000;634-641.
-
(2000)
Mol. Pharmacol.
, vol.57
, pp. 634-641
-
-
Madon, J.1
Hagenbuch, B.2
Landmann, L.3
Meier, P.J.4
Stieger, B.5
-
22
-
-
17344369418
-
Correction of respiratory burst activity in X-linked chronic granulomatous cells to therapeutically relevant levels after gene transfer into bone marrow CD34+ cells
-
Becker S., Wasser S., Hauses M., Hossle J.P., Ott M.G., Dinauer M.C., Ganser A., Hoelzer D., Seger R., Grez M. Correction of respiratory burst activity in X-linked chronic granulomatous cells to therapeutically relevant levels after gene transfer into bone marrow CD34+ cells. Hum. Gene Ther. 9:1998;1561-1570.
-
(1998)
Hum. Gene Ther.
, vol.9
, pp. 1561-1570
-
-
Becker, S.1
Wasser, S.2
Hauses, M.3
Hossle, J.P.4
Ott, M.G.5
Dinauer, M.C.6
Ganser, A.7
Hoelzer, D.8
Seger, R.9
Grez, M.10
-
23
-
-
0037335189
-
Application of a human multidrug transporter (ABCG2) variant as selectable marker in gene transfer to progenitor cells
-
Ujhelly O., Ozvegy C., Varady G., Cervenak J., Homolya L., Grez M., Scheffer G., Roos D., Bates S.E., Varadi A., Sarkadi B., Nemet K. Application of a human multidrug transporter (ABCG2) variant as selectable marker in gene transfer to progenitor cells. Hum. Gene Ther. 14:2003;403-412.
-
(2003)
Hum. Gene Ther.
, vol.14
, pp. 403-412
-
-
Ujhelly, O.1
Ozvegy, C.2
Varady, G.3
Cervenak, J.4
Homolya, L.5
Grez, M.6
Scheffer, G.7
Roos, D.8
Bates, S.E.9
Varadi, A.10
Sarkadi, B.11
Nemet, K.12
-
24
-
-
0026722467
-
Expression of the human multidrug resistance cDNA in insect cells generates a high activity drug-stimulated membrane ATPase
-
Sarkadi B., Price E.M., Boucher R.C., Germann U.A., Scarborough G.A. Expression of the human multidrug resistance cDNA in insect cells generates a high activity drug-stimulated membrane ATPase. J. Biol. Chem. 267:1992;4854-4858.
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 4854-4858
-
-
Sarkadi, B.1
Price, E.M.2
Boucher, R.C.3
Germann, U.A.4
Scarborough, G.A.5
-
26
-
-
0032878515
-
Membrane topology of the amino-terminal region of the sulfonylurea receptor
-
Raab-Graham K.F., Cirilo L.J., Boettcher A.A., Radeke C.M., Vandenberg C.A. Membrane topology of the amino-terminal region of the sulfonylurea receptor. J. Biol. Chem. 274:1999;29122-29129.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 29122-29129
-
-
Raab-Graham, K.F.1
Cirilo, L.J.2
Boettcher, A.A.3
Radeke, C.M.4
Vandenberg, C.A.5
|