BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

360 related articles for article (PubMed ID: 25477496)

  • 1. 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; 125(10):1623-32. PubMed ID: 25477496
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Defective PDI release from platelets and endothelial cells impairs thrombus formation in Hermansky-Pudlak syndrome.
    Sharda A; Kim SH; Jasuja R; Gopal S; Flaumenhaft R; Furie BC; Furie B
    Blood; 2015 Mar; 125(10):1633-42. PubMed ID: 25593336
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. A Novel Likely Pathogenic Variant in the
    Boeckelmann D; Wolter M; Käsmann-Kellner B; Koehler U; Schieber-Nakamura L; Zieger B
    Cells; 2021 Oct; 10(10):. PubMed ID: 34685610
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Endobrevin/VAMP-8-dependent dense granule release mediates thrombus formation in vivo.
    Graham GJ; Ren Q; Dilks JR; Blair P; Whiteheart SW; Flaumenhaft R
    Blood; 2009 Jul; 114(5):1083-90. PubMed ID: 19395672
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.
    Andres O; Wiegering V; König EM; Schneider AL; Semeniak D; Stritt S; Klopocki E; Schulze H
    Pediatr Blood Cancer; 2017 May; 64(5):. PubMed ID: 27917594
    [TBL] [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; 35(1):84-9. PubMed ID: 12923531
    [TBL] [Abstract][Full Text] [Related]  

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

  • 10. Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).
    Starcevic M; Dell'Angelica EC
    J Biol Chem; 2004 Jul; 279(27):28393-401. PubMed ID: 15102850
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 100(1):128-35. PubMed ID: 12070017
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 101(11):4402-7. PubMed ID: 12576321
    [TBL] [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; 104(10):3181-9. PubMed ID: 15265785
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Defective platelet autocrine signaling in HPS.
    Storrie B
    Blood; 2015 Mar; 125(10):1515-6. PubMed ID: 25745182
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.
    Cullinane AR; Curry JA; Carmona-Rivera C; Summers CG; Ciccone C; Cardillo ND; Dorward H; Hess RA; White JG; Adams D; Huizing M; Gahl WA
    Am J Hum Genet; 2011 Jun; 88(6):778-787. PubMed ID: 21665000
    [TBL] [Abstract][Full Text] [Related]  

  • 17. HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells.
    Yu J; He X; Wei A; Liu T; Zhang Q; Pan Y; Hao Z; Yang L; Yuan Y; Zhang Z; Zhang C; Hao C; Liu Z; Li W
    Front Immunol; 2020; 11():560110. PubMed ID: 33224134
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.
    Nazarian R; Falcón-Pérez JM; Dell'Angelica EC
    Proc Natl Acad Sci U S A; 2003 Jul; 100(15):8770-5. PubMed ID: 12847290
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 29(1):91-94. PubMed ID: 29090612
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Combined deficiency of RAB32 and RAB38 in the mouse mimics Hermansky-Pudlak syndrome and critically impairs thrombosis.
    Aguilar A; Weber J; Boscher J; Freund M; Ziessel C; Eckly A; Magnenat S; Bourdon C; Hechler B; Mangin PH; Gachet C; Lanza F; Léon C
    Blood Adv; 2019 Aug; 3(15):2368-2380. PubMed ID: 31399401
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.