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 *

155 related articles for article (PubMed ID: 25468649)

  • 1. In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.
    Ikawa Y; Hess R; Dorward H; Cullinane AR; Huizing M; Gochuico BR; Gahl WA; Candotti F
    Mol Genet Metab; 2015 Jan; 114(1):62-5. PubMed ID: 25468649
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Abnormal translocation of tyrosinase and tyrosinase-related protein 1 in cutaneous melanocytes of Hermansky-Pudlak Syndrome and in melanoma cells transfected with anti-sense HPS1 cDNA.
    Sarangarajan R; Budev A; Zhao Y; Gahl WA; Boissy RE
    J Invest Dermatol; 2001 Sep; 117(3):641-6. PubMed ID: 11564171
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).
    Carmona-Rivera C; Simeonov DR; Cardillo ND; Gahl WA; Cadilla CL
    Biochim Biophys Acta; 2013 Mar; 1833(3):468-78. PubMed ID: 23103514
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis.
    Kirshenbaum AS; Cruse G; Desai A; Bandara G; Leerkes M; Lee CC; Fischer ER; O'Brien KJ; Gochuico BR; Stone K; Gahl WA; Metcalfe DD
    PLoS One; 2016; 11(7):e0159177. PubMed ID: 27459687
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.
    Ito S; Suzuki T; Inagaki K; Suzuki N; Takamori K; Yamada T; Nakazawa M; Hatano M; Takiwaki H; Kakuta Y; Spritz RA; Tomita Y
    J Invest Dermatol; 2005 Oct; 125(4):715-20. PubMed ID: 16185271
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Hermansky-Pudlak syndrome: Gene therapy for pulmonary fibrosis.
    Nieto-Alamilla G; Behan M; Hossain M; Gochuico BR; Malicdan MCV
    Mol Genet Metab; 2022; 137(1-2):187-191. PubMed ID: 36088816
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
    Wei ML
    Pigment Cell Res; 2006 Feb; 19(1):19-42. PubMed ID: 16420244
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.
    Doubková M; Trizuljak J; Vrzalová Z; Hrazdirová A; Blaháková I; Radová L; Pospíšilová Š; Doubek M
    BMC Pulm Med; 2019 Oct; 19(1):178. PubMed ID: 31619213
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1.
    Natsuga K; Akiyama M; Shimizu T; Suzuki T; Ito S; Tomita Y; Tanaka J; Shimizu H
    J Invest Dermatol; 2005 Jul; 125(1):154-8. PubMed ID: 15982315
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.
    Wang C; Shi P; Li Q; Chen C; Zhao X; Zhang R; Kong X
    Eur J Med Genet; 2021 Jun; 64(6):104228. PubMed ID: 33878481
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hermansky-Pudlak syndrome with a novel genetic variant in
    McElvaney OJ; Huizing M; Gahl WA; O'Donovan P; Horan D; Logan PM; Reeves EP; McElvaney NG
    Thorax; 2018 Nov; 73(11):1085-1088. PubMed ID: 29941477
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 131(12):2394-400. PubMed ID: 21833017
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients.
    Liu T; Yuan Y; Bai D; Qi Z; Yang L; Zhang T; Yang X; Li W; Wei A
    Pigment Cell Melanoma Res; 2021 Jan; 34(1):111-121. PubMed ID: 32725903
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs).
    Maguire JA; Lu L; Mills JA; Sullivan LM; Gagne A; Gadue P; French DL
    Stem Cell Res; 2016 Mar; 16(2):233-5. PubMed ID: 27345974
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report.
    Ishihara J; Mizuochi T; Uchida T; Takaki Y; Konishi KI; Joo M; Takahashi Y; Yoshioka S; Kusano H; Sasahara Y; Yamashita Y
    BMC Gastroenterol; 2019 Jan; 19(1):9. PubMed ID: 30634918
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.