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266 related items for PubMed ID: 17365864

  • 1. Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.
    Huizing M, Parkes JM, Helip-Wooley A, White JG, Gahl WA.
    Platelets; 2007 Mar; 18(2):150-7. PubMed ID: 17365864
    [Abstract] [Full Text] [Related]

  • 2. Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models.
    Meng R, Wu J, Harper DC, Wang Y, Kowalska MA, Abrams CS, Brass LF, Poncz M, Stalker TJ, Marks MS.
    Blood; 2015 Mar 05; 125(10):1623-32. PubMed ID: 25477496
    [Abstract] [Full Text] [Related]

  • 3. Genetic variants associated with Hermansky-Pudlak syndrome.
    Merideth MA, Introne WJ, Wang JA, O'Brien KJ, Huizing M, Gochuico BR.
    Platelets; 2020 May 18; 31(4):544-547. PubMed ID: 32436471
    [Abstract] [Full Text] [Related]

  • 4. Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype.
    Botero JP, Chen D, Majerus JA, Coon LM, He R, Warad DM, Pruthi RK, Nichols WL.
    Platelets; 2018 Jan 18; 29(1):91-94. PubMed ID: 29090612
    [Abstract] [Full Text] [Related]

  • 5. A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.
    Boeckelmann D, Wolter M, Käsmann-Kellner B, Koehler U, Schieber-Nakamura L, Zieger B.
    Cells; 2021 Oct 01; 10(10):. PubMed ID: 34685610
    [Abstract] [Full Text] [Related]

  • 6. 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 12; 120(2):404-14. PubMed ID: 22611153
    [Abstract] [Full Text] [Related]

  • 7. Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.
    Carmona-Rivera C, Golas G, Hess RA, Cardillo ND, Martin EH, O'Brien K, Tsilou E, Gochuico BR, White JG, Huizing M, Gahl WA.
    J Invest Dermatol; 2011 Dec 12; 131(12):2394-400. PubMed ID: 21833017
    [Abstract] [Full Text] [Related]

  • 8. 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 12; 35(1):84-9. PubMed ID: 12923531
    [Abstract] [Full Text] [Related]

  • 9. Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant.
    Sánchez-Guiu I, Torregrosa JM, Velasco F, Antón AI, Lozano ML, Vicente V, Rivera J.
    Hamostaseologie; 2014 Sep 12; 34(4):301-9. PubMed ID: 25117010
    [Abstract] [Full Text] [Related]

  • 10. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.
    Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC.
    Traffic; 2004 Apr 12; 5(4):276-83. PubMed ID: 15030569
    [Abstract] [Full Text] [Related]

  • 11.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Introne WJ, Huizing M, Malicdan MCV, O'Brien KJ, Gahl WA.
    ; 1993 Apr 12. PubMed ID: 20301464
    [Abstract] [Full Text] [Related]

  • 12. The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5).
    Falcón-Pérez JM, Romero-Calderón R, Brooks ES, Krantz DE, Dell'Angelica EC.
    Traffic; 2007 Feb 12; 8(2):154-68. PubMed ID: 17156100
    [Abstract] [Full Text] [Related]

  • 13. Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex.
    Gwynn B, Martina JA, Bonifacino JS, Sviderskaya EV, Lamoreux ML, Bennett DC, Moriyama K, Huizing M, Helip-Wooley A, Gahl WA, Webb LS, Lambert AJ, Peters LL.
    Blood; 2004 Nov 15; 104(10):3181-9. PubMed ID: 15265785
    [Abstract] [Full Text] [Related]

  • 14. Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).
    Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS, Peters LL.
    Blood; 2003 Jun 01; 101(11):4402-7. PubMed ID: 12576321
    [Abstract] [Full Text] [Related]

  • 15. The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudlak and Griscelli syndromes, is granule-specific and dependent on genetic background.
    Novak EK, Gautam R, Reddington M, Collinson LM, Copeland NG, Jenkins NA, McGarry MP, Swank RT.
    Blood; 2002 Jul 01; 100(1):128-35. PubMed ID: 12070017
    [Abstract] [Full Text] [Related]

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  • 17. Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.
    Bryan MM, Tolman NJ, Simon KL, Huizing M, Hufnagel RB, Brooks BP, Speransky V, Mullikin JC, Gahl WA, Malicdan MCV, Gochuico BR.
    Mol Genet Metab; 2017 Apr 01; 120(4):378-383. PubMed ID: 28259707
    [Abstract] [Full Text] [Related]

  • 18. Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.
    Wei A, Yuan Y, Qi Z, Liu T, Bai D, Zhang Y, Yu J, Yang L, Yang X, Li W.
    Pigment Cell Melanoma Res; 2019 May 01; 32(3):373-380. PubMed ID: 30387913
    [Abstract] [Full Text] [Related]

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  • 20. Rab38 Mutation and the Lung Phenotype.
    Osanai K.
    Int J Mol Sci; 2018 Jul 27; 19(8):. PubMed ID: 30060521
    [Abstract] [Full Text] [Related]

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