BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

332 related articles for article (PubMed ID: 16185271)

  • 1. 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]  

  • 2. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.
    Santiago Borrero PJ; Rodríguez-Pérez Y; Renta JY; Izquierdo NJ; Del Fierro L; Muñoz D; Molina NL; Ramírez S; Pagán-Mercado G; Ortíz I; Rivera-Caragol E; Spritz RA; Cadilla CL
    J Invest Dermatol; 2006 Jan; 126(1):85-90. PubMed ID: 16417222
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel mutations in the HPS1 gene among Puerto Rican patients.
    Carmona-Rivera C; Hess RA; O'Brien K; Golas G; Tsilou E; White JG; Gahl WA; Huizing M
    Clin Genet; 2011 Jun; 79(6):561-7. PubMed ID: 20662851
    [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. 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. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
    Suzuki T; Li W; Zhang Q; Karim A; Novak EK; Sviderskaya EV; Hill SP; Bennett DC; Levin AV; Nieuwenhuis HK; Fong CT; Castellan C; Miterski B; Swank RT; Spritz RA
    Nat Genet; 2002 Mar; 30(3):321-4. PubMed ID: 11836498
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.
    Anikster Y; Huizing M; White J; Shevchenko YO; Fitzpatrick DL; Touchman JW; Compton JG; Bale SJ; Swank RT; Gahl WA; Toro JR
    Nat Genet; 2001 Aug; 28(4):376-80. PubMed ID: 11455388
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.
    Huizing M; Anikster Y; Fitzpatrick DL; Jeong AB; D'Souza M; Rausche M; Toro JR; Kaiser-Kupfer MI; White JG; Gahl WA
    Am J Hum Genet; 2001 Nov; 69(5):1022-32. PubMed ID: 11590544
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 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. Albinism in Europe.
    Mártinez-García M; Montoliu L
    J Dermatol; 2013 May; 40(5):319-24. PubMed ID: 23668539
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.
    Huizing M; Gahl WA
    Curr Mol Med; 2002 Aug; 2(5):451-67. PubMed ID: 12125811
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hermansky-Pudlak syndrome type 1 in patients of Indian descent.
    Vincent LM; Adams D; Hess RA; Ziegler SG; Tsilou E; Golas G; O'Brien KJ; White JG; Huizing M; Gahl WA
    Mol Genet Metab; 2009 Jul; 97(3):227-33. PubMed ID: 19398212
    [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. Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.
    Wei A; Yuan Y; Qi Z; Liu T; Bai D; Zhang Y; Yu J; Yang L; Yang X; Li W
    Pigment Cell Melanoma Res; 2019 May; 32(3):373-380. PubMed ID: 30387913
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 17.