-
1
-
-
0012119330
-
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
-
Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M (1997a) Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277:1805-1807
-
(1997)
Science
, vol.277
, pp. 1805-1807
-
-
Allikmets, R.1
Shroyer, N.F.2
Singh, N.3
Seddon, J.M.4
Lewis, R.A.5
Bernstein, P.S.6
Peiffer, A.7
Zabriskie, N.A.8
Li, Y.9
Hutchinson, A.10
Dean, M.11
Lupski, J.R.12
Leppert, M.13
-
2
-
-
0031037951
-
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
-
Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR (1997b) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15:236-246
-
(1997)
Nat Genet
, vol.15
, pp. 236-246
-
-
Allikmets, R.1
Singh, N.2
Sun, H.3
Shroyer, N.F.4
Hutchinson, A.5
Chidambaram, A.6
Gerrard, B.7
Baird, L.8
Stauffer, D.9
Peiffer, A.10
Rattner, A.11
Smallwood, P.12
Li, Y.13
Anderson, K.L.14
Lewis, R.A.15
Nathans, J.16
Leppert, M.17
Dean, M.18
Lupski, J.R.19
-
3
-
-
0030983124
-
The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)
-
Azarian SM, Travis GH (1997) The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). FEBS Lett 409:247-252
-
(1997)
FEBS Lett
, vol.409
, pp. 247-252
-
-
Azarian, S.M.1
Travis, G.H.2
-
4
-
-
0028923465
-
Recommendations for standardized human pedigree nomenclature
-
Bennett RL, Steinhaus KA, Uhrich SB, O'Sullivan CK, Resta RG, Lochner-Doyle D, Markel DS, Vincent V, Hamanishi J (1995) Recommendations for standardized human pedigree nomenclature. Am J Hum Genet 56:745-52
-
(1995)
Am J Hum Genet
, vol.56
, pp. 745-752
-
-
Bennett, R.L.1
Steinhaus, K.A.2
Uhrich, S.B.3
O'Sullivan, C.K.4
Resta, R.G.5
Lochner-Doyle, D.6
Markel, D.S.7
Vincent, V.8
Hamanishi, J.9
-
5
-
-
6844259885
-
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
-
Cremers FPM, van de Pol DJR, van Driel M, den Hollander AI, van Haren FJJ, Knoers NVAM, Tijmes N, Bergen AAB, Rohrschneider K, Blankenagel A, Pinckers AJLG, Deutman AF, Hoyng CB (1998) Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet 7:355-362
-
(1998)
Hum Mol Genet
, vol.7
, pp. 355-362
-
-
Cremers, F.P.M.1
Van De Pol, D.J.R.2
Van Driel, M.3
Den Hollander, A.I.4
Van Haren, F.J.J.5
Knoers, N.V.A.M.6
Tijmes, N.7
Bergen, A.A.B.8
Rohrschneider, K.9
Blankenagel, A.10
Pinckers, A.J.L.G.11
Deutman, A.F.12
Hoyng, C.B.13
-
6
-
-
0030969303
-
The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily
-
Illing M, Molday LL, Molday RS (1997) The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily. J Biol Chem 272:10303-10310
-
(1997)
J Biol Chem
, vol.272
, pp. 10303-10310
-
-
Illing, M.1
Molday, L.L.2
Molday, R.S.3
-
7
-
-
0033071210
-
Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease
-
Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, Li Y, Lupski JR, Leppert M, Dean M (1999) Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am J Hum Genet 64:422-434
-
(1999)
Am J Hum Genet
, vol.64
, pp. 422-434
-
-
Lewis, R.A.1
Shroyer, N.F.2
Singh, N.3
Allikmets, R.4
Hutchinson, A.5
Li, Y.6
Lupski, J.R.7
Leppert, M.8
Dean, M.9
-
8
-
-
0031606609
-
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
-
Martinez-Mir A, Paloma E, Allikmets R, Ayuso C, del Rio T, Dean M, Vilageliu L, Gonzalez-Duarte R, Balcells S (1998) Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat Genet 18:11-12
-
(1998)
Nat Genet
, vol.18
, pp. 11-12
-
-
Martinez-Mir, A.1
Paloma, E.2
Allikmets, R.3
Ayuso, C.4
Del Rio, T.5
Dean, M.6
Vilageliu, L.7
Gonzalez-Duarte, R.8
Balcells, S.9
-
9
-
-
0033237315
-
The 2588G→C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR mutations in patients with Stargardt disease
-
Maugeri A, van Driel MA, van de Pol DJR, Klevering BJ, van Haren FJJ, Tijmes N, Bergen AAB, Rohrschneider K, Blankenagel A, Pinckers AJLG, Dahl N, Brunner HG, Deutman AF, Hoyng CB, Cremers FPM (1999) The 2588G→C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR mutations in patients with Stargardt Disease. Am J Hum Genet 64:1024-1035
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1024-1035
-
-
Maugeri, A.1
Van Driel, M.A.2
Van De Pol, D.J.R.3
Klevering, B.J.4
Van Haren, F.J.J.5
Tijmes, N.6
Bergen, A.A.B.7
Rohrschneider, K.8
Blankenagel, A.9
Pinckers, A.J.L.G.10
Dahl, N.11
Brunner, H.G.12
Deutman, A.F.13
Hoyng, C.B.14
Cremers, F.P.M.15
-
10
-
-
0032421235
-
Photoreceptor membrane proteins, phototransduction, and retinal degenerative diseases. The Friedenwald lecture
-
Molday RS (1998) Photoreceptor membrane proteins, phototransduction, and retinal degenerative diseases. The Friedenwald Lecture. Invest Ophthalmol Vis Sci 39:2493-2513
-
(1998)
Invest Ophthalmol Vis Sci
, vol.39
, pp. 2493-2513
-
-
Molday, R.S.1
-
11
-
-
0032950521
-
The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: From monogenic to multifactorial
-
Shroyer NF, Lewis RA, Allikmets R, Singh N, Dean M, Leppert M, Lupski JR (1999) The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. Vision Res 39:2537-2544
-
(1999)
Vision Res
, vol.39
, pp. 2537-2544
-
-
Shroyer, N.F.1
Lewis, R.A.2
Allikmets, R.3
Singh, N.4
Dean, M.5
Leppert, M.6
Lupski, J.R.7
-
12
-
-
0000761427
-
Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease
-
Sun H, Molday RS, Nathans J (1999) Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease. J Biol Chem 274:8269-8281
-
(1999)
J Biol Chem
, vol.274
, pp. 8269-8281
-
-
Sun, H.1
Molday, R.S.2
Nathans, J.3
-
13
-
-
0033538438
-
Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice
-
Weng J, Mata NL, Azarian SM, Tzekov RT, Birch DG, Travis GH (1999) Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell 98:13-23
-
(1999)
Cell
, vol.98
, pp. 13-23
-
-
Weng, J.1
Mata, N.L.2
Azarian, S.M.3
Tzekov, R.T.4
Birch, D.G.5
Travis, G.H.6
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