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Results: 1-25 | 26-36
Results: 1-25/36
Genotypes and phenotypes
Authors: Gahl, WA
Citation: Wa. Gahl, Genotypes and phenotypes, GENET MED, 3(6), 2001, pp. 385-386
Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: Exclusion of the subtle gray (sut) locus
Authors: Huizing, M Anikster, Y White, JG Gahl, WA
Citation: M. Huizing et al., Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: Exclusion of the subtle gray (sut) locus, MOL GEN MET, 74(1-2), 2001, pp. 217-225
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
Authors: Anikster, Y Huizing, M White, J Shevchenko, YO Fitzpatrick, DL Touchman, JW Compton, JG Bale, SJ Swank, RT Gahl, WA Toro, JR
Citation: Y. Anikster et al., Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico, NAT GENET, 28(4), 2001, pp. 376-380
AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes
Authors: Huizing, M Sarangarajan, R Strovel, E Zhao, Y Gahl, WA Boissy, RE
Citation: M. Huizing et al., AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes, MOL BIOL CE, 12(7), 2001, pp. 2075-2085
Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33
Authors: Huizing, M Didier, A Walenta, J Anikster, Y Gahl, WA Kramer, H
Citation: M. Huizing et al., Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33, GENE, 264(2), 2001, pp. 241-247
Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: Disorders of vesicle formation and trafficking
Authors: Huizing, M Anikster, Y Gahl, WA
Citation: M. Huizing et al., Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: Disorders of vesicle formation and trafficking, THROMB HAEM, 86(1), 2001, pp. 233-245
The metabolism of fatty acids in human bietti crystalline dystrophy
Authors: Lee, J Jiao, XD Hejtmancik, JF Kaiser-Kupfer, M Gahl, WA Markello, TC Guo, JR Chader, GJ
Citation: J. Lee et al., The metabolism of fatty acids in human bietti crystalline dystrophy, INV OPHTH V, 42(8), 2001, pp. 1707-1714
Clinical course and biochemistry of sialuria
Authors: Enns, GM Seppala, R Musci, TJ Weisiger, K Ferrell, LD Wenger, DA Gahl, WA Packman, S
Citation: Gm. Enns et al., Clinical course and biochemistry of sialuria, J INH MET D, 24(3), 2001, pp. 328-336
Evaluation of the Xylum clot signature analyzer in normal subjects and patients with the Hermansky-Pudlak syndrome
Authors: Horne, MK Williams, SB Gahl, WA Rick, ME
Citation: Mk. Horne et al., Evaluation of the Xylum clot signature analyzer in normal subjects and patients with the Hermansky-Pudlak syndrome, THROMB RES, 104(1), 2001, pp. 57-63
New therapies for Fabry's disease.
Authors: Gahl, WA
Citation: Wa. Gahl, New therapies for Fabry's disease., N ENG J MED, 345(1), 2001, pp. 55-57
Abnormal translocation of tyrosinase and tyrosinase-related protein 1 in cutaneous melanocytes of Hermansky-Pudlak syndrome and in melanoma cells transfected with anti-sense HPS1 cDNA
Authors: Sarangarajan, R Budev, A Zhao, Y Gahl, WA Boissy, RE
Citation: R. Sarangarajan et al., Abnormal translocation of tyrosinase and tyrosinase-related protein 1 in cutaneous melanocytes of Hermansky-Pudlak syndrome and in melanoma cells transfected with anti-sense HPS1 cDNA, J INVES DER, 117(3), 2001, pp. 641-646
Intracellular distribution of lysosomal sialidase is controlled by the internalization signal in its cytoplasmic tail
Authors: Lukong, KE Seyrantepe, V Landry, K Trudel, S Ahmad, A Gahl, WA Lefrancois, S Morales, CR Pshezhetsky, AV
Citation: Ke. Lukong et al., Intracellular distribution of lysosomal sialidase is controlled by the internalization signal in its cytoplasmic tail, J BIOL CHEM, 276(49), 2001, pp. 46172-46181
Pulmonary dysfunction in adults with nephropathic cystinosis
Authors: Anikster, Y Lacbawan, F Brantly, M Gochuico, BL Avila, NA Travis, W Gahl, WA
Citation: Y. Anikster et al., Pulmonary dysfunction in adults with nephropathic cystinosis, CHEST, 119(2), 2001, pp. 394-401
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): Identification of the OPA3 gene and its founder mutation in Iraqi Jews
Authors: Anikster, Y Kleta, R Shaag, A Gahl, WA Elpeleg, O
Citation: Y. Anikster et al., Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): Identification of the OPA3 gene and its founder mutation in Iraqi Jews, AM J HU GEN, 69(6), 2001, pp. 1218-1224
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency
Authors: Huizing, M Anikster, Y Fitzpatrick, DL Jeong, AB D'Souza, M Rausche, M Toro, JR Kaiser-Kupfer, MI White, JG Gahl, WA
Citation: M. Huizing et al., Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency, AM J HU GEN, 69(5), 2001, pp. 1022-1032
The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, carkl, and causes cystinosis if mutated in a critical region
Authors: Phornphutkul, C Anikster, Y Huizing, M Braun, P Brodie, C Chou, JY Gahl, WA
Citation: C. Phornphutkul et al., The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, carkl, and causes cystinosis if mutated in a critical region, AM J HU GEN, 69(4), 2001, pp. 712-721
Dominant inheritance of sialuria, an inborn error of feedback inhibition
Authors: Leroy, JG Seppala, R Huizing, M Dacremont, G De Simpel, H Van Coster, RN Orvisky, E Krasnewich, DM Gahl, WA
Citation: Jg. Leroy et al., Dominant inheritance of sialuria, an inborn error of feedback inhibition, AM J HU GEN, 68(6), 2001, pp. 1419-1427
Hermansky-Pudlak syndrome and related disorders of organelle formation
Authors: Huizing, M Anikster, Y Gahl, WA
Citation: M. Huizing et al., Hermansky-Pudlak syndrome and related disorders of organelle formation, TRAFFIC, 1(11), 2000, pp. 823-835
Corneal crystals in nephropathic cystinosis: Natural history and treatmentwith cysteamine eyedrops
Authors: Gahl, WA Kuehl, EM Iwata, F Lindblad, A Kaiser-Kupfer, MI
Citation: Wa. Gahl et al., Corneal crystals in nephropathic cystinosis: Natural history and treatmentwith cysteamine eyedrops, MOL GEN MET, 71(1-2), 2000, pp. 100-120
The genomic region encompassing the nephropathic cystinosis gene (CTNS): Complete sequencing of a 200-kb segment and discovery of a novel gene withinthe common cystinosis-causing deletion
Authors: Touchman, JW Anikster, Y Dietrich, NL Maduro, VVB McDowell, G Shotelersuk, V Bouffard, GG Beckstrom-Sternberg, SM Gahl, WA Green, ED
Citation: Jw. Touchman et al., The genomic region encompassing the nephropathic cystinosis gene (CTNS): Complete sequencing of a 200-kb segment and discovery of a novel gene withinthe common cystinosis-causing deletion, GENOME RES, 10(2), 2000, pp. 165-173
Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection
Authors: Huizing, M Anikster, Y Gahl, WA
Citation: M. Huizing et al., Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection, HUM GENET, 106(3), 2000, pp. 370-373
Trafficking of major histocompatibility complex class II molecules in human B-lymphoblasts deficient in the AP-3 adaptor complex
Authors: Caplan, S Dell'Angelica, EC Gahl, WA Bonifacino, JS
Citation: S. Caplan et al., Trafficking of major histocompatibility complex class II molecules in human B-lymphoblasts deficient in the AP-3 adaptor complex, IMMUNOL LET, 72(2), 2000, pp. 113-117
Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism
Authors: Iwata, F Reed, GF Caruso, RC Kuehl, EM Gahl, WA Kaiser-Kupfer, MI
Citation: F. Iwata et al., Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism, OPHTHALMOL, 107(4), 2000, pp. 783-789
Ocular nonnephropathic cystinosis: Clinical, biochemical, and molecular correlations
Authors: Anikster, Y Lucero, C Guo, JR Huizing, M Shotelersuk, V Bernardini, I McDowell, G Iwata, F Kaiser-Kupfer, MI Jaffe, R Thoene, J Schneider, JA Gahl, WA
Citation: Y. Anikster et al., Ocular nonnephropathic cystinosis: Clinical, biochemical, and molecular correlations, PEDIAT RES, 47(1), 2000, pp. 17-23
Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene
Authors: Dell'Angelica, EC Aguilar, RC Wolins, N Hazelwood, S Gahl, WA Bonifacino, JS
Citation: Ec. Dell'Angelica et al., Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene, J BIOL CHEM, 275(2), 2000, pp. 1300-1306
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