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2. The Ap3b1 gene regulates the ocular melanosome biogenesis and tyrosinase distribution differently from the Hps1 gene. Jing R; Dong X; Li K; Yan J; Chen X; Feng L Exp Eye Res; 2014 Nov; 128():57-66. PubMed ID: 25160823 [TBL] [Abstract][Full Text] [Related]
3. Characterization of melanosomes in murine Hermansky-Pudlak syndrome: mechanisms of hypopigmentation. Nguyen T; Wei ML J Invest Dermatol; 2004 Feb; 122(2):452-60. PubMed ID: 15009730 [TBL] [Abstract][Full Text] [Related]
4. Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. Nguyen T; Novak EK; Kermani M; Fluhr J; Peters LL; Swank RT; Wei ML J Invest Dermatol; 2002 Nov; 119(5):1156-64. PubMed ID: 12445206 [TBL] [Abstract][Full Text] [Related]
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6. 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. Sarangarajan R; Budev A; Zhao Y; Gahl WA; Boissy RE J Invest Dermatol; 2001 Sep; 117(3):641-6. PubMed ID: 11564171 [TBL] [Abstract][Full Text] [Related]
7. Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking. Richmond B; Huizing M; Knapp J; Koshoffer A; Zhao Y; Gahl WA; Boissy RE J Invest Dermatol; 2005 Feb; 124(2):420-7. PubMed ID: 15675963 [TBL] [Abstract][Full Text] [Related]
8. Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. Boissy RE; Richmond B; Huizing M; Helip-Wooley A; Zhao Y; Koshoffer A; Gahl WA Am J Pathol; 2005 Jan; 166(1):231-40. PubMed ID: 15632015 [TBL] [Abstract][Full Text] [Related]
9. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Suzuki T; Li W; Zhang Q; Karim A; Novak EK; Sviderskaya EV; Hill SP; Bennett DC; Levin AV; Nieuwenhuis HK; Fong CT; Castellan C; Miterski B; Swank RT; Spritz RA Nat Genet; 2002 Mar; 30(3):321-4. PubMed ID: 11836498 [TBL] [Abstract][Full Text] [Related]
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11. Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism. Gwynn B; Ciciotte SL; Hunter SJ; Washburn LL; Smith RS; Andersen SG; Swank RT; Dell'Angelica EC; Bonifacino JS; Eicher EM; Peters LL Blood; 2000 Dec; 96(13):4227-35. PubMed ID: 11110696 [TBL] [Abstract][Full Text] [Related]
12. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. Ito S; Suzuki T; Inagaki K; Suzuki N; Takamori K; Yamada T; Nakazawa M; Hatano M; Takiwaki H; Kakuta Y; Spritz RA; Tomita Y J Invest Dermatol; 2005 Oct; 125(4):715-20. PubMed ID: 16185271 [TBL] [Abstract][Full Text] [Related]
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16. Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. Helip-Wooley A; Westbroek W; Dorward HM; Koshoffer A; Huizing M; Boissy RE; Gahl WA J Invest Dermatol; 2007 Jun; 127(6):1471-8. PubMed ID: 17301833 [TBL] [Abstract][Full Text] [Related]
17. Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Feng GH; Bailin T; Oh J; Spritz RA Hum Mol Genet; 1997 May; 6(5):793-7. PubMed ID: 9158155 [TBL] [Abstract][Full Text] [Related]
18. Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1. Natsuga K; Akiyama M; Shimizu T; Suzuki T; Ito S; Tomita Y; Tanaka J; Shimizu H J Invest Dermatol; 2005 Jul; 125(1):154-8. PubMed ID: 15982315 [TBL] [Abstract][Full Text] [Related]
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20. The Zebrafish fade out mutant: a novel genetic model for Hermansky-Pudlak syndrome. Bahadori R; Rinner O; Schonthaler HB; Biehlmaier O; Makhankov YV; Rao P; Jagadeeswaran P; Neuhauss SC Invest Ophthalmol Vis Sci; 2006 Oct; 47(10):4523-31. PubMed ID: 17003448 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]