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 *

153 related articles for article (PubMed ID: 10761991)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Mouse models of Hermansky Pudlak syndrome: a review.
    Swank RT; Novak EK; McGarry MP; Rusiniak ME; Feng L
    Pigment Cell Res; 1998 Apr; 11(2):60-80. PubMed ID: 9585243
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Hypopigmentation in Hermansky-Pudlak syndrome.
    Wei AH; He X; Li W
    J Dermatol; 2013 May; 40(5):325-9. PubMed ID: 23668540
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.
    Gardner JM; Wildenberg SC; Keiper NM; Novak EK; Rusiniak ME; Swank RT; Puri N; Finger JN; Hagiwara N; Lehman AL; Gales TL; Bayer ME; King RA; Brilliant MH
    Proc Natl Acad Sci U S A; 1997 Aug; 94(17):9238-43. PubMed ID: 9256466
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.
    O'Brien KJ; Lozier J; Cullinane AR; Osorio B; Nghiem K; Speransky V; Zein WM; Mullikin JC; Neff AT; Simon KL; Malicdan MC; Gahl WA; Young LR; Gochuico BR
    Mol Genet Metab; 2016 Nov; 119(3):284-287. PubMed ID: 27641950
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hermansky-Pudlak syndrome: health care throughout life.
    Seward SL; Gahl WA
    Pediatrics; 2013 Jul; 132(1):153-60. PubMed ID: 23753089
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The gene for lysosomal protein CD63 is normal in patients with Hermansky-Pudlak syndrome.
    Armstrong LW; Rom WN; Martiniuk FT
    Lung; 1998; 176(4):249-56. PubMed ID: 9617741
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.
    Fukai K; Oh J; Frenk E; Almodóvar C; Spritz RA
    Hum Mol Genet; 1995 Sep; 4(9):1665-9. PubMed ID: 8541858
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
    Power B; Ferreira CR; Chen D; Zein WM; O'Brien KJ; Introne WJ; Stephen J; Gahl WA; Huizing M; Malicdan MCV; Adams DR; Gochuico BR
    Orphanet J Rare Dis; 2019 Feb; 14(1):52. PubMed ID: 30791930
    [TBL] [Abstract][Full Text] [Related]  

  • 19. no privacy, a Xenopus tropicalis mutant, is a model of human Hermansky-Pudlak Syndrome and allows visualization of internal organogenesis during tadpole development.
    Nakayama T; Nakajima K; Cox A; Fisher M; Howell M; Fish MB; Yaoita Y; Grainger RM
    Dev Biol; 2017 Jun; 426(2):472-486. PubMed ID: 27595926
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Lysosome-related organelles.
    Dell'Angelica EC; Mullins C; Caplan S; Bonifacino JS
    FASEB J; 2000 Jul; 14(10):1265-78. PubMed ID: 10877819
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.