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Results: 1-13 |
Results: 13
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
The gene mutated in cocoa mice, carrying a defect of organelle biogenesis,is a homologue of the human Hermansky-Pudlak syndrome-3 gene
Authors: Suzuki, T Li, W Zhang, Q Novak, EK Sviderskaya, EV Wilson, A Bennett, DC Roe, BA Swank, RT Spritz, RA
Citation: T. Suzuki et al., The gene mutated in cocoa mice, carrying a defect of organelle biogenesis,is a homologue of the human Hermansky-Pudlak syndrome-3 gene, GENOMICS, 78(1-2), 2001, pp. 30-37
5 '-UTR structural organization, transcript expression, and mutational analysis of the human Rab geranylgeranyl transferase alpha-subunit (RABGGTA) gene
Authors: Li, W Detter, JC Weiss, HJ Cramer, EM Zhang, Q Novak, EK Favier, R Kingsmore, SF Swank, RT
Citation: W. Li et al., 5 '-UTR structural organization, transcript expression, and mutational analysis of the human Rab geranylgeranyl transferase alpha-subunit (RABGGTA) gene, MOL GEN MET, 71(4), 2000, pp. 599-608
Porphyromonas gingivalis platelet aggregation activity: outer membrane vesicles are potent activators of murine platelets
Authors: Sharma, A Novak, EK Sojar, HT Swank, RT Kuramitsu, HK Genco, RJ
Citation: A. Sharma et al., Porphyromonas gingivalis platelet aggregation activity: outer membrane vesicles are potent activators of murine platelets, ORAL MICROB, 15(6), 2000, pp. 393-396
Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome
Authors: Swank, RT Novak, EK McGarry, MP Zhang, YK Li, W Zhang, Q Feng, LJ
Citation: Rt. Swank et al., Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome, PIGM CELL R, 13, 2000, pp. 59-67
Genomic structure of the mouse Ap3b1 gene in normal and pearl mice
Authors: Feng, LJ Rigatti, BW Novak, EK Gorin, MB Swank, RT
Citation: Lj. Feng et al., Genomic structure of the mouse Ap3b1 gene in normal and pearl mice, GENOMICS, 69(3), 2000, pp. 370-379
Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis
Authors: Detter, JC Zhang, Q Mules, EH Novak, EK Mishra, VS Li, W McMurtrie, EB Tchernev, VT Wallace, MR Seabra, MC Swank, RT Kingsmore, SF
Citation: Jc. Detter et al., Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis, P NAS US, 97(8), 2000, pp. 4144-4149
A mutation in Rab27a causes the vesicle transport defects observed in ashen mice
Authors: Wilson, SM Yip, R Swing, DA O'Sullivan, TN Zhang, Y Novak, EK Swank, RT Russell, LB Copeland, NG Jenkins, NA
Citation: Sm. Wilson et al., A mutation in Rab27a causes the vesicle transport defects observed in ashen mice, P NAS US, 97(14), 2000, pp. 7933-7938
Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism
Authors: Gwynn, B Ciciotte, SL Hunter, SJ Washburn, LL Smith, RS Andersen, SG Swank, RT Dell'Angelica, EC Bonifacino, JS Eicher, EM Peters, LL
Citation: B. Gwynn et al., Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism, BLOOD, 96(13), 2000, pp. 4227-4235
Analyses of proteins involved in vesicular trafficking in platelets of mouse models of Hermansky Pudlak syndrome
Authors: Richards-Smith, B Novak, EK Jang, EK He, P Haslam, RJ Castle, D Whiteheart, SW Swank, RT
Citation: B. Richards-smith et al., Analyses of proteins involved in vesicular trafficking in platelets of mouse models of Hermansky Pudlak syndrome, MOL GEN MET, 68(1), 1999, pp. 14-23
The beta 3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered inthe mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness
Authors: Feng, LJ Seymour, AB Jiang, S To, A Peden, AA Novak, EK Zhen, LJ Rusiniak, ME Eicher, EM Robinson, MS Gorin, MB Swank, RT
Citation: Lj. Feng et al., The beta 3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered inthe mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness, HUM MOL GEN, 8(2), 1999, pp. 323-330
Survival and lung pathology of mouse models of Hermansky-Pudlak Syndrome and Chediak-Higashi Syndrome
Authors: McGarry, MP Reddington, M Novak, EK Swank, RT
Citation: Mp. Mcgarry et al., Survival and lung pathology of mouse models of Hermansky-Pudlak Syndrome and Chediak-Higashi Syndrome, P SOC EXP M, 220(3), 1999, pp. 162-168
Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse
Authors: Zhen, LJ Jiang, S Feng, LJ Bright, NA Peden, AA Seymour, AB Novak, EK Elliott, R Gorin, MB Robinson, MS Swank, RT
Citation: Lj. Zhen et al., Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse, BLOOD, 94(1), 1999, pp. 146-155
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