272 related articles for article (PubMed ID: 28296950)
1. Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
Stephen J; Yokoyama T; Tolman NJ; O'Brien KJ; Nicoli ER; Brooks BP; Huryn L; Titus SA; Adams DR; Chen D; Gahl WA; Gochuico BR; Malicdan MC
PLoS One; 2017; 12(3):e0173682. PubMed ID: 28296950
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.
Di Pietro SM; Falcón-Pérez JM; Dell'Angelica EC
Traffic; 2004 Apr; 5(4):276-83. PubMed ID: 15030569
[TBL] [Abstract][Full Text] [Related]
4. snow white, a zebrafish model of Hermansky-Pudlak Syndrome type 5.
Daly CM; Willer J; Gregg R; Gross JM
Genetics; 2013 Oct; 195(2):481-94. PubMed ID: 23893484
[TBL] [Abstract][Full Text] [Related]
5. Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.
Huizing M; Pederson B; Hess RA; Griffin A; Helip-Wooley A; Westbroek W; Dorward H; O'Brien KJ; Golas G; Tsilou E; White JG; Gahl WA
J Med Genet; 2009 Dec; 46(12):803-10. PubMed ID: 19843503
[TBL] [Abstract][Full Text] [Related]
6. New insights into the pathogenesis of Hermansky-Pudlak syndrome.
Li W; Hao CJ; Hao ZH; Ma J; Wang QC; Yuan YF; Gong JJ; Chen YY; Yu JY; Wei AH
Pigment Cell Melanoma Res; 2022 May; 35(3):290-302. PubMed ID: 35129281
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.
O'Brien KJ; Lozier J; Cullinane AR; Osorio B; Nghiem K; Speransky V; Zein WM; Mullikin JC; Neff AT; Simon KL; Malicdan MC; Gahl WA; Young LR; Gochuico BR
Mol Genet Metab; 2016 Nov; 119(3):284-287. PubMed ID: 27641950
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
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. Hermansky-Pudlak syndrome: Mutation update.
Huizing M; Malicdan MCV; Wang JA; Pri-Chen H; Hess RA; Fischer R; O'Brien KJ; Merideth MA; Gahl WA; Gochuico BR
Hum Mutat; 2020 Mar; 41(3):543-580. PubMed ID: 31898847
[TBL] [Abstract][Full Text] [Related]
18. Hermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression.
Bhattad S; Libre M; Choi JM; Mohite RS; Singh N; Markle JG
Eur J Med Genet; 2023 Jul; 66(7):104786. PubMed ID: 37172778
[TBL] [Abstract][Full Text] [Related]
19. Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis.
Wei AH; Li W
Pigment Cell Melanoma Res; 2013 Mar; 26(2):176-92. PubMed ID: 23171219
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
