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 *

249 related articles for article (PubMed ID: 9158155)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome.
    McGarry MP; Reddington M; Novak EK; Swank RT
    Proc Soc Exp Biol Med; 1999 Mar; 220(3):162-8. PubMed ID: 10193444
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain.
    Oiso N; Riddle SR; Serikawa T; Kuramoto T; Spritz RA
    Mamm Genome; 2004 Apr; 15(4):307-14. PubMed ID: 15112108
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus.
    Huizing M; Anikster Y; White JG; Gahl WA
    Mol Genet Metab; 2001; 74(1-2):217-25. PubMed ID: 11592818
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene.
    Suzuki T; Li W; Zhang Q; Novak EK; Sviderskaya EV; Wilson A; Bennett DC; Roe BA; Swank RT; Spritz RA
    Genomics; 2001 Nov; 78(1-2):30-7. PubMed ID: 11707070
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.
    Huizing M; Anikster Y; Gahl WA
    Hum Genet; 2000 Mar; 106(3):370-3. PubMed ID: 10798370
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.
    Zhang Q; Li W; Novak EK; Karim A; Mishra VS; Kingsmore SF; Roe BA; Suzuki T; Swank RT
    Hum Mol Genet; 2002 Mar; 11(6):697-706. PubMed ID: 11912185
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness.
    Feng L; Seymour AB; Jiang S; To A; Peden AA; Novak EK; Zhen L; Rusiniak ME; Eicher EM; Robinson MS; Gorin MB; Swank RT
    Hum Mol Genet; 1999 Feb; 8(2):323-30. PubMed ID: 9931340
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.