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