140 related articles for article (PubMed ID: 17632576)
21. The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).
Gautam R; Chintala S; Li W; Zhang Q; Tan J; Novak EK; Di Pietro SM; Dell'Angelica EC; Swank RT
J Biol Chem; 2004 Mar; 279(13):12935-42. PubMed ID: 14718540
[TBL] [Abstract][Full Text] [Related]
22. Insights into the biogenesis of lysosome-related organelles from the study of the Hermansky-Pudlak syndrome.
Bonifacino JS
Ann N Y Acad Sci; 2004 Dec; 1038():103-14. PubMed ID: 15838104
[TBL] [Abstract][Full Text] [Related]
23. A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.
Cullinane AR; Curry JA; Carmona-Rivera C; Summers CG; Ciccone C; Cardillo ND; Dorward H; Hess RA; White JG; Adams D; Huizing M; Gahl WA
Am J Hum Genet; 2011 Jun; 88(6):778-787. PubMed ID: 21665000
[TBL] [Abstract][Full Text] [Related]
24. Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models.
Meng R; Wu J; Harper DC; Wang Y; Kowalska MA; Abrams CS; Brass LF; Poncz M; Stalker TJ; Marks MS
Blood; 2015 Mar; 125(10):1623-32. PubMed ID: 25477496
[TBL] [Abstract][Full Text] [Related]
25. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.
Huizing M; Hess R; Dorward H; Claassen DA; Helip-Wooley A; Kleta R; Kaiser-Kupfer MI; White JG; Gahl WA
Traffic; 2004 Sep; 5(9):711-22. PubMed ID: 15296495
[TBL] [Abstract][Full Text] [Related]
26. The cell biology of Hermansky-Pudlak syndrome: recent advances.
Di Pietro SM; Dell'Angelica EC
Traffic; 2005 Jul; 6(7):525-33. PubMed ID: 15941404
[TBL] [Abstract][Full Text] [Related]
27. Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting.
Stanescu H; Wolfsberg TG; Moreland RT; Ayub MH; Erickson E; Westbroek W; Huizing M; Gahl WA; Helip-Wooley A
Ann Hum Genet; 2009 Jul; 73(Pt 4):422-8. PubMed ID: 19523149
[TBL] [Abstract][Full Text] [Related]
28. Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.
Ringeisen AL; Schimmenti LA; White JG; Schoonveld C; Summers CG
J AAPOS; 2013 Jun; 17(3):334-6. PubMed ID: 23607980
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome.
Swank RT; Novak EK; McGarry MP; Zhang Y; Li W; Zhang Q; Feng L
Pigment Cell Res; 2000; 13 Suppl 8():59-67. PubMed ID: 11041359
[TBL] [Abstract][Full Text] [Related]
31. Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
Michaud V; Lasseaux E; Plaisant C; Verloes A; Perdomo-Trujillo Y; Hamel C; Elcioglu NH; Leroy B; Kaplan J; Jouk PS; Lacombe D; Fergelot P; Morice-Picard F; Arveiler B
Pigment Cell Melanoma Res; 2017 Jan; 30(6):563-570. PubMed ID: 28640947
[TBL] [Abstract][Full Text] [Related]
32. A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5.
Korswagen LA; Huizing M; Simsek S; Janssen JJ; Zweegman S
Eur J Haematol; 2008 Apr; 80(4):356-60. PubMed ID: 18182080
[TBL] [Abstract][Full Text] [Related]
33. BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.
Gerondopoulos A; Langemeyer L; Liang JR; Linford A; Barr FA
Curr Biol; 2012 Nov; 22(22):2135-9. PubMed ID: 23084991
[TBL] [Abstract][Full Text] [Related]
34. Hermansky-Pudlak syndrome and related disorders of organelle formation.
Huizing M; Anikster Y; Gahl WA
Traffic; 2000 Nov; 1(11):823-35. PubMed ID: 11208073
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome.
Nazarian R; Huizing M; Helip-Wooley A; Starcevic M; Gahl WA; Dell'Angelica EC
Mol Genet Metab; 2008 Feb; 93(2):134-44. PubMed ID: 17933573
[TBL] [Abstract][Full Text] [Related]
37. A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.
Cullinane AR; Curry JA; Golas G; Pan J; Carmona-Rivera C; Hess RA; White JG; Huizing M; Gahl WA
Pigment Cell Melanoma Res; 2012 Sep; 25(5):584-91. PubMed ID: 22709368
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. 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]
40. SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models.
Meng R; Wang Y; Yao Y; Zhang Z; Harper DC; Heijnen HF; Sitaram A; Li W; Raposo G; Weiss MJ; Poncz M; Marks MS
Blood; 2012 Jul; 120(2):404-14. PubMed ID: 22611153
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]