Citations for
1HPS, HPS1
Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs).
Maguire JA, Lu L, Mills JA, Sullivan LM, Gagne A, Gadue P, French DL.
Stem Cell Res 16(2):233-5. doi: 10.1016/j.scr.2016.01.014. 2016
2HPS, HPS1
MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro.
Ahuja S, Knudsen L, Chillappagari S, Henneke I, Ruppert C, Korfei M, Gochuico BR, Bellusci S, Seeger W, Ochs M, Guenther A, Mahavadi P.
Am J Physiol Lung Cell Mol Physiol 310(6):L519-31. doi: 10.1152/ajplung.00213.2015. 2016
3HPS, HPS1, HPS3
Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).
Jardón J, Izquierdo NJ, Renta JY, García-Rodríguez O, Cadilla CL.
Ophthalmic Genet 37(1):89-94. doi: 10.3109/13816810.2014.907920. Epub 2014 Apr 28. 2016
4AP3B1, HPS1
The Ap3b1 gene regulates the ocular melanosome biogenesis and tyrosinase distribution differently from the Hps1 gene.
Jing R, Dong X, Li K, Yan J, Chen X, Feng L.
Exp Eye Res 128:57-66. doi: 10.1016/j.exer.2014.08.010. 2014
5HPS1
Regulation of mRNA abundance by polypyrimidine tract-binding protein-controlled alternate 5' splice site choice.
Hamid FM, Makeyev EV.
PLoS Genet 10(11):e1004771. doi: 10.1371/journal.pgen.1004771. 2014
6BLOC1S3, HPS1, HPS4
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. Mar;1833(3):468-78. doi: 10.1016/j.bbamcr.2012.10.019. Epub 2012 Oct 23. 2013
7HPS1, HPS4, RAB9A, RAB9B
Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9.
Kloer DP, Rojas R, Ivan V, Moriyama K, van Vlijmen T, Murthy N, Ghirlando R, van der Sluijs P, Hurley JH, Bonifacino JS.
J Biol Chem 285(10):7794-804. Epub 2010 Jan 4. 2010
8HPS, HPS1
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 222(3):168-74. Epub 2010 May 31.PMID: 20514622 2010
9HPS1, HPS4
Early origin of genes encoding subunits of biogenesis of lysosome-related organelles complex-1, -2 and -3.
Cheli VT, Dell'Angelica EC.
Traffic 11(5):579-86. Epub 2010 Jan 20.PMID: 20102546 2010
10HPS, HPS1
The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene.
Wei A, Lian S, Wang L, Li W.
J Dermatol Sci 56(2):130-2. Epub 2009 Aug 7. No abstract available. PMID: 1966535 2009
11HPS, HPS1
BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.
Setty SR, Tenza D, Truschel ST, Chou E, Sviderskaya EV, Theos AC, Lamoreux ML, Di Pietro SM, Starcevic M, Bennett DC, Dell'Angelica EC, Raposo G, Marks MS.
Mol Biol Cell 18(3):768-80. Epub 2006 Dec 20. 2007
12HPS, HPS1
Hermansky-Pudlak HPS1/pale ear gene regulates epidermal and dermal melanocyte development.
Nguyen T, Wei ML.
J Invest Dermatol 127(2):421-8. Epub 2006 Oct 19.PMID: 17068483 2007
13HPS1, HPS2, HPS3, HPS4, HPS5, HPS6, HPS7, HPS8
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
Wei ML.
Pigment Cell Res 19(1):19-42. Review.PMID: 16420244 2006
14HPS1, HPS2, HPS3, HPS4, HPS5, HPS6, HPS7, HPS8
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.
Schreyer-Shafir N, Huizing M, Anikster Y, Nusinker Z, Bejarano-Achache I, Maftzir G, Resnik L, Helip-Wooley A, Westbroek W, Gradstein L, Rosenmann A, Blumenfeld A.
Hum Mutat 27(11):1158.PMID: 17041891 2006
15HPS1, HPS, C10orf33
Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR.
Griffin AE, Cobb BR, Anderson PD, Claassen DA, Helip-Wooley A, Huizing M, Gahl WA.
Clin Genet 68(1):23-30. 2005
16HPS1, HPS4
The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles.
Chiang PW, Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA.
J Biol Chem 278(22):20332-7. Epub 2003 Mar 27. 2003
17HPS1, HPS4
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.
Martina JA, Moriyama K, Bonifacino JS.
J Biol Chem 278(31):29376-84. Epub 2003 May 19. 2003
18HPS1, HPS2
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 99(5):1651-8. 2002
19HPS1
The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes.
Oh J, Liu ZX, Feng GH, Raposo G, Spritz RA.
Hum Mol Genet 9(3):375-385 2000
20HPS1
Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene.
Dell'Angelica EC, Aguilar RC, Wolins N, Hazelwood S, Gahl WA, Bonifacino JS.
J Biol Chem 275(2):1300-6. 2000
21LYST, HPS1, OCA1, OCA2, OCA3, OA1, CHS1
Molecular basis of albinism : mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS, et al.
Hum Mutat 13 : 99-115. 1999
22HPS1
Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene.
Toro J, et al.
Arch Dermatol 135(7):774-80 1999
23HPS1
Mutation analysis of patients with Hermansky-Pudlak syndrome : a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
Oh J, et al.
Am J Hum Genet 62 : 593-598. 1998
24HPS1
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).
Gahl WA, et al.
N Engl J Med 338 : 1258-1264. 1998
25HPS1
Three new mutations in a gene causing Hermansky-Pudlak syndrome : clinical correlations.
Shotelersuk V, et al.
Mol Genet Metab 64 : 99-107. 1998
26HPS1
Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico.
Wildenberg SC, Fryer JP, Gardner JM, Oetting WS, Brilliant MH, King RA.
J Invest Dermatol 110(5):777-81. 1998
27HPS1
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 6(5):793-7. 1997
28HPS1
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 94(17):9238-43. 1997
29HPS1
Identification of a novel cDNA associated with the Hermansky-Pudlak syndrome (HPS). (abstr)
Scott C, et al.
Am J Hum Genet 61 : A337. 1997
30HPS1
Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.
Hazelwood S, Shotelersuk V, Wildenberg SC, Chen D, Iwata F, Kaiser-Kupfer MI, White JG, King RA, Gahl WA.
Am J Hum Genet 61(5):1088-94. 1997
31HPS1
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.
Oh J, et al.
Nat Genet 14 : 300-306. 1996
32HPS1
A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2.
Wildenberg SC, et al.
Am J Hum Genet 57 : 755-765. 1995
33HPS1
Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.
Fukai K, et al.
Hum Mol Genet 4 : 1665-1669. 1995