BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

348 related articles for article (PubMed ID: 27459687)

  • 1. 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]  

  • 2. 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]  

  • 3. Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis.
    Cullinane AR; Yeager C; Dorward H; Carmona-Rivera C; Wu HP; Moss J; O'Brien KJ; Nathan SD; Meyer KC; Rosas IO; Helip-Wooley A; Huizing M; Gahl WA; Gochuico BR
    Am J Respir Cell Mol Biol; 2014 Mar; 50(3):605-13. PubMed ID: 24134621
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.
    Hermos CR; Huizing M; Kaiser-Kupfer MI; Gahl WA
    Hum Mutat; 2002 Dec; 20(6):482. PubMed ID: 12442288
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

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

  • 8. 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]  

  • 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; 34(4):301-9. PubMed ID: 25117010
    [TBL] [Abstract][Full Text] [Related]  

  • 10. NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.
    Wei A; Yuan Y; Bai D; Ma J; Hao Z; Zhang Y; Yu J; Zhou Z; Yang L; Yang X; Li L; Li W
    Pigment Cell Melanoma Res; 2016 Nov; 29(6):702-706. PubMed ID: 27593200
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Hermansky-Pudlak Syndrome.
    De Jesus Rojas W; Young LR
    Semin Respir Crit Care Med; 2020 Apr; 41(2):238-246. PubMed ID: 32279294
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome.
    Summer R; Krishna R; Schriner D; Cuevas-Mora K; Sales D; Para R; Roman J; Nieweld C; Gochuico BR; Romero F
    Orphanet J Rare Dis; 2019 Jul; 14(1):162. PubMed ID: 31272455
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.
    Han CG; O'Brien KJ; Coon LM; Majerus JA; Huryn LA; Haroutunian SG; Moka N; Introne WJ; Macnamara E; Gahl WA; Malicdan MCV; Chen D; Krishnan K; Gochuico BR
    Am J Med Genet A; 2018 Dec; 176(12):2819-2823. PubMed ID: 30369044
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1).
    Sandrock K; Bartsch I; Rombach N; Schmidt K; Nakamura L; Hainmann I; Busse A; Zieger B
    Klin Padiatr; 2010 May; 222(3):168-74. PubMed ID: 20514622
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.
    Bachli EB; Brack T; Eppler E; Stallmach T; Trüeb RM; Huizing M; Gahl WA
    Am J Med Genet A; 2004 Jun; 127A(2):201-7. PubMed ID: 15108212
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 18.