AAAAAA

   
Results: 1-22 |
Results: 22
The human ATP-binding cassette (ABC) transporter superfamily
Authors: Dean, M Rzhetsky, A Allikmets, R
Citation: M. Dean et al., The human ATP-binding cassette (ABC) transporter superfamily, GENOME RES, 11(7), 2001, pp. 1156-1166
Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption
Authors: Lee, MH Lu, K Hazard, S Yu, HW Shulenin, S Hidaka, H Kojima, H Allikmets, R Sakuma, N Pegoraro, R Srivastava, AK Salen, G Dean, M Patel, SB
Citation: Mh. Lee et al., Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption, NAT GENET, 27(1), 2001, pp. 79-83
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy
Authors: Zhang, K Kniazeva, M Han, M Li, W Yu, ZY Yang, ZL Li, Y Metzker, ML Allikmets, R Zack, DJ Kakuk, LE Lagali, PS Wong, PW MacDonald, IM Sieving, PA Figueroa, DJ Austin, CP Gould, RJ Ayyagari, R Petrukhin, K
Citation: K. Zhang et al., A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy, NAT GENET, 27(1), 2001, pp. 89-93
Two new genes from the human ATP-binding cassette transporter superfamily,ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12
Authors: Tammur, J Prades, C Arnould, I Rzhetsky, A Hutchinson, A Adachi, M Schuetz, JD Swoboda, KJ Ptacek, LJ Rosier, M Dean, M Allikmets, R
Citation: J. Tammur et al., Two new genes from the human ATP-binding cassette transporter superfamily,ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12, GENE, 273(1), 2001, pp. 89-96
Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients
Authors: Fumagalli, A Ferrari, M Soriani, N Gessi, A Foglieni, B Martina, E Manitto, MP Brancato, R Dean, M Allikmets, R Cremonesi, L
Citation: A. Fumagalli et al., Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients, HUM GENET, 109(3), 2001, pp. 326-338
An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus
Authors: Shulenin, S Schriml, LM Remaley, AT Fojo, S Brewer, B Allikmets, R Dean, M
Citation: S. Shulenin et al., An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus, CYTOG C GEN, 92(3-4), 2001, pp. 204-208
Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy
Authors: Seddon, JM Afshari, MA Sharma, S Bernstein, PS Chong, S Hutchinson, A Petrukhin, K Allikmets, R
Citation: Jm. Seddon et al., Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy, OPHTHALMOL, 108(11), 2001, pp. 2060-2067
Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene
Authors: Bernstein, PS Tammur, J Singh, N Hutchinson, A Dixon, M Pappas, CM Zabriskie, NA Zhang, K Petrukhin, K Leppert, M Allikmets, R
Citation: Ps. Bernstein et al., Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene, INV OPHTH V, 42(13), 2001, pp. 3331-3336
Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration
Authors: Sauer, CG White, K Stohr, H Grimm, T Hutchinson, A Bernstein, PS Lewis, RA Simonelli, F Pauleikhoff, D Allikmets, R Weber, BHF
Citation: Cg. Sauer et al., Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration, BR J OPHTH, 85(8), 2001, pp. 969-975
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease
Authors: Simonelli, F Testa, F de Crecchio, G Rinaldi, E Hutchinson, A Atkinson, A Dean, M D'Urso, M Allikmets, R
Citation: F. Simonelli et al., New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease, INV OPHTH V, 41(3), 2000, pp. 892-897
ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport
Authors: Klucken, J Buchler, C Orso, E Kaminski, WE Porsch-Ozcurumez, M Liebisch, C Kapinsky, M Diederich, W Drobnik, W Dean, M Allikmets, R Schmitz, G
Citation: J. Klucken et al., ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport, P NAS US, 97(2), 2000, pp. 817-822
Simple and complex ABCR: Genetic predisposition to retinal disease
Authors: Allikmets, R
Citation: R. Allikmets, Simple and complex ABCR: Genetic predisposition to retinal disease, AM J HU GEN, 67(4), 2000, pp. 793-799
Further evidence for an association of ABCR alleles with age-related macular degeneration
Authors: Allikmets, R
Citation: R. Allikmets, Further evidence for an association of ABCR alleles with age-related macular degeneration, AM J HU GEN, 67(2), 2000, pp. 487-491
Molecular genetics of age-related macular degeneration: Current status
Authors: Allikmets, R
Citation: R. Allikmets, Molecular genetics of age-related macular degeneration: Current status, EUR J OPTHA, 9(4), 1999, pp. 255-265
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
Authors: Allikmets, R Raskind, WH Hutchinson, A Schueck, ND Dean, M Koeller, DM
Citation: R. Allikmets et al., Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A), HUM MOL GEN, 8(5), 1999, pp. 743-749
The ABCR gene in recessive and dominant Stargardt diseases: A genetic pathway in macular degeneration
Authors: Zhang, K Kniazeva, M Hutchinson, A Han, M Dean, M Allikmets, R
Citation: K. Zhang et al., The ABCR gene in recessive and dominant Stargardt diseases: A genetic pathway in macular degeneration, GENOMICS, 60(2), 1999, pp. 234-237
Analysis of NotI linking clones isolated from human chromosome 3 specific libraries
Authors: Kashuba, VI Gizatullin, RZ Protopopov, AI Li, J Vorobieva, NV Fedorova, L Zabarovska, VI Muravenko, OV Kost-Alimova, M Domninsky, DA Kiss, C Allikmets, R Zakharyev, VM Braga, EA Sumegi, J Lerman, M Wahlestedt, C Zelenin, AV Sheer, D Winberg, G Grafodatsky, A Kisselev, LL Klein, G Zabarovsky, ER
Citation: Vi. Kashuba et al., Analysis of NotI linking clones isolated from human chromosome 3 specific libraries, GENE, 239(2), 1999, pp. 259-271
Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies
Authors: Allikmets, R Seddon, JM Bernstein, PS Hutchinson, A Atkinson, A Sharma, S Gerrard, B Li, W Metzker, ML Wadelius, C Caskey, CT Dean, M Petrukhin, K
Citation: R. Allikmets et al., Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies, HUM GENET, 104(6), 1999, pp. 449-453
The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial
Authors: Shroyer, NF Lewis, RA Allikmets, R Singh, N Dean, M Leppert, M Lupski, JR
Citation: Nf. Shroyer et al., The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial, VISION RES, 39(15), 1999, pp. 2537-2544
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease
Authors: Zhang, K Garibaldi, DC Kniazeva, M Albini, T Chiang, MF Kerrigan, M Sunness, JS Han, M Allikmets, R
Citation: K. Zhang et al., A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease, AM J OPHTH, 128(6), 1999, pp. 720-724
Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease
Authors: Lewis, RA Shroyer, NF Singh, N Allikmets, R Hutchinson, A Li, YX Lupski, JR Leppert, M Dean, M
Citation: Ra. Lewis et al., Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease, AM J HU GEN, 64(2), 1999, pp. 422-434
A human placenta-specific ATP-binding cassette gene (ABCP) on chromosome 4q22 that is involved in multidrug resistance
Authors: Allikmets, R Schriml, LM Hutchinson, A Romano-Spica, V Dean, M
Citation: R. Allikmets et al., A human placenta-specific ATP-binding cassette gene (ABCP) on chromosome 4q22 that is involved in multidrug resistance, CANCER RES, 58(23), 1998, pp. 5337-5339
Risultati: 1-22 |