248 related articles for article (PubMed ID: 21665000)
1. 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]
2. 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]
3. Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).
Starcevic M; Dell'Angelica EC
J Biol Chem; 2004 Jul; 279(27):28393-401. PubMed ID: 15102850
[TBL] [Abstract][Full Text] [Related]
4. Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).
Ciciotte SL; Gwynn B; Moriyama K; Huizing M; Gahl WA; Bonifacino JS; Peters LL
Blood; 2003 Jun; 101(11):4402-7. PubMed ID: 12576321
[TBL] [Abstract][Full Text] [Related]
5. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
Li W; Zhang Q; Oiso N; Novak EK; Gautam R; O'Brien EP; Tinsley CL; Blake DJ; Spritz RA; Copeland NG; Jenkins NA; Amato D; Roe BA; Starcevic M; Dell'Angelica EC; Elliott RW; Mishra V; Kingsmore SF; Paylor RE; Swank RT
Nat Genet; 2003 Sep; 35(1):84-9. PubMed ID: 12923531
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.
Nazarian R; Falcón-Pérez JM; Dell'Angelica EC
Proc Natl Acad Sci U S A; 2003 Jul; 100(15):8770-5. PubMed ID: 12847290
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.
Bryan MM; Tolman NJ; Simon KL; Huizing M; Hufnagel RB; Brooks BP; Speransky V; Mullikin JC; Gahl WA; Malicdan MCV; Gochuico BR
Mol Genet Metab; 2017 Apr; 120(4):378-383. PubMed ID: 28259707
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18.
Osanai K
Int J Mol Sci; 2018 Jul; 19(8):. PubMed ID: 30060521
[No Abstract] [Full Text] [Related]
19. Genetic variants associated with Hermansky-Pudlak syndrome.
Merideth MA; Introne WJ; Wang JA; O'Brien KJ; Huizing M; Gochuico BR
Platelets; 2020 May; 31(4):544-547. PubMed ID: 32436471
[TBL] [Abstract][Full Text] [Related]
20. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
Wei AH; Zang DJ; Zhang Z; Liu XZ; He X; Yang L; Wang Y; Zhou ZY; Zhang MR; Dai LL; Yang XM; Li W
J Invest Dermatol; 2013 Jul; 133(7):1834-40. PubMed ID: 23364476
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
