These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

214 related articles for article (PubMed ID: 11110696)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.
    Huizing M; Scher CD; Strovel E; Fitzpatrick DL; Hartnell LM; Anikster Y; Gahl WA
    Pediatr Res; 2002 Feb; 51(2):150-8. PubMed ID: 11809908
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 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. 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]  

  • 13. 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]  

  • 14. Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome.
    Swank RT; Novak EK; McGarry MP; Zhang Y; Li W; Zhang Q; Feng L
    Pigment Cell Res; 2000; 13 Suppl 8():59-67. PubMed ID: 11041359
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.
    Zhang Q; Zhao B; Li W; Oiso N; Novak EK; Rusiniak ME; Gautam R; Chintala S; O'Brien EP; Zhang Y; Roe BA; Elliott RW; Eicher EM; Liang P; Kratz C; Legius E; Spritz RA; O'Sullivan TN; Copeland NG; Jenkins NA; Swank RT
    Nat Genet; 2003 Feb; 33(2):145-53. PubMed ID: 12548288
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Interaction of Hermansky-Pudlak Syndrome genes in the regulation of lysosome-related organelles.
    Gautam R; Novak EK; Tan J; Wakamatsu K; Ito S; Swank RT
    Traffic; 2006 Jul; 7(7):779-92. PubMed ID: 16787394
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hermansky-Pudlak syndrome and related disorders of organelle formation.
    Huizing M; Anikster Y; Gahl WA
    Traffic; 2000 Nov; 1(11):823-35. PubMed ID: 11208073
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse.
    Zhen L; Jiang S; Feng L; Bright NA; Peden AA; Seymour AB; Novak EK; Elliott R; Gorin MB; Robinson MS; Swank RT
    Blood; 1999 Jul; 94(1):146-55. PubMed ID: 10381507
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.