BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

168 related articles for article (PubMed ID: 10655547)

  • 1. The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes.
    Oh J; Liu ZX; Feng GH; Raposo G; Spritz RA
    Hum Mol Genet; 2000 Feb; 9(3):375-85. PubMed ID: 10655547
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hermansky-Pudlak syndrome and pale ear: melanosome-making for the millennium.
    Spritz RA
    Pigment Cell Res; 2000 Feb; 13(1):15-20. PubMed ID: 10761991
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking.
    Boissy RE; Zhao Y; Gahl WA
    Lab Invest; 1998 Sep; 78(9):1037-48. PubMed ID: 9759648
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.
    Oh J; Bailin T; Fukai K; Feng GH; Ho L; Mao JI; Frenk E; Tamura N; Spritz RA
    Nat Genet; 1996 Nov; 14(3):300-6. PubMed ID: 8896559
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.
    Bailin T; Oh J; Feng GH; Fukai K; Spritz RA
    J Invest Dermatol; 1997 Jun; 108(6):923-7. PubMed ID: 9182823
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Hermansky-Pudlak syndrome: models for intracellular vesicle formation.
    Shotelersuk V; Gahl WA
    Mol Genet Metab; 1998 Oct; 65(2):85-96. PubMed ID: 9787100
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Membranous complexes characteristic of melanocytes derived from patients with Hermansky-Pudlak syndrome type 1 are macroautophagosomal entities of the lysosomal compartment.
    Smith JW; Koshoffer A; Morris RE; Boissy RE
    Pigment Cell Res; 2005 Dec; 18(6):417-26. PubMed ID: 16280007
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
    Li W; Zhang Q; Oiso N; Novak EK; Gautam R; O'Brien EP; Tinsley CL; Blake DJ; Spritz RA; Copeland NG; Jenkins NA; Amato D; Roe BA; Starcevic M; Dell'Angelica EC; Elliott RW; Mishra V; Kingsmore SF; Paylor RE; Swank RT
    Nat Genet; 2003 Sep; 35(1):84-9. PubMed ID: 12923531
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Analyses of proteins involved in vesicular trafficking in platelets of mouse models of Hermansky Pudlak syndrome.
    Richards-Smith B; Novak EK; Jang EK; He P; Haslam RJ; Castle D; Whiteheart SW; Swank RT
    Mol Genet Metab; 1999 Sep; 68(1):14-23. PubMed ID: 10479478
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hermansky-Pudlak syndrome in a Swiss population.
    Schallreuter KU; Frenk E; Wolfe LS; Witkop CJ; Wood JM
    Dermatology; 1993; 187(4):248-56. PubMed ID: 8274781
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome.
    Starcevic M; Nazarian R; Dell'Angelica EC
    Semin Cell Dev Biol; 2002 Aug; 13(4):271-8. PubMed ID: 12243726
    [TBL] [Abstract][Full Text] [Related]  

  • 15. SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models.
    Meng R; Wang Y; Yao Y; Zhang Z; Harper DC; Heijnen HF; Sitaram A; Li W; Raposo G; Weiss MJ; Poncz M; Marks MS
    Blood; 2012 Jul; 120(2):404-14. PubMed ID: 22611153
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes.
    Feng L; Novak EK; Hartnell LM; Bonifacino JS; Collinson LM; Swank RT
    Blood; 2002 Mar; 99(5):1651-8. PubMed ID: 11861280
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene.
    Suzuki T; Li W; Zhang Q; Novak EK; Sviderskaya EV; Wilson A; Bennett DC; Roe BA; Swank RT; Spritz RA
    Genomics; 2001 Nov; 78(1-2):30-7. PubMed ID: 11707070
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
    Oh J; Ho L; Ala-Mello S; Amato D; Armstrong L; Bellucci S; Carakushansky G; Ellis JP; Fong CT; Green JS; Heon E; Legius E; Levin AV; Nieuwenhuis HK; Pinckers A; Tamura N; Whiteford ML; Yamasaki H; Spritz RA
    Am J Hum Genet; 1998 Mar; 62(3):593-8. PubMed ID: 9497254
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.
    Loredana Asztalos M; Schafernak KT; Gray J; Berry A; Paller AS; Mancini AJ
    Pediatr Dermatol; 2017 Nov; 34(6):638-646. PubMed ID: 29044644
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.