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Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
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Colorectal polyposes: from phenotype to diagnosis.Pathol Res Pract. 2008;204(7):431-47. doi: 10.1016/j.prp.2008.03.008. Epub 2008 Jun 9.
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Hermansky-Pudlak syndrome in a Swiss population.Dermatology. 1993;187(4):248-56. doi: 10.1159/000247258.
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Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease.J Clin Invest. 2015 Aug 3;125(8):3178-92. doi: 10.1172/JCI79792. Epub 2015 Jun 29.
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Different functions of biogenesis of lysosomal organelles complex 3 subunit 1 (Hps1) and adaptor-related protein complex 3, beta 1 subunit (Ap3b1) genes on spermatogenesis and male fertility.Reprod Fertil Dev. 2019 Apr;31(5):972-982. doi: 10.1071/RD18339.
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Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. J Invest Dermatol. 2013 Jul;133(7):1834-40. doi: 10.1038/jid.2013.49. Epub 2013 Jan 30.
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SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models.Blood. 2012 Jul 12;120(2):404-14. doi: 10.1182/blood-2011-11-389551. Epub 2012 May 18.
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The ophthalmic presentation of Hermansky-Pudlak syndrome 6.Br J Ophthalmol. 2016 Nov;100(11):1521-1524. doi: 10.1136/bjophthalmol-2015-308067. Epub 2016 Jan 28.
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Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.PLoS One. 2012;7(9):e42446. doi: 10.1371/journal.pone.0042446. Epub 2012 Sep 11.
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Up-regulation of activating transcription factor-5 suppresses SAP expression to activate T cells in hemophagocytic syndrome associated with Epstein-Barr virus infection and immune disorders.Am J Pathol. 2008 Nov;173(5):1397-405. doi: 10.2353/ajpath.2008.080440. Epub 2008 Oct 2.
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Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood. 2016 Feb 25;127(8):997-1006. doi: 10.1182/blood-2015-09-671636. Epub 2016 Jan 7.
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A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. Am J Hum Genet. 2011 Jun 10;88(6):778-787. doi: 10.1016/j.ajhg.2011.05.009.
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Cyclooxygenase-2 promotes pulmonary intravascular macrophage accumulation by exacerbating BMP signaling in rat experimental hepatopulmonary syndrome.Biochem Pharmacol. 2017 Aug 15;138:205-215. doi: 10.1016/j.bcp.2017.06.117. Epub 2017 Jun 19.
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Novel mutation in two brothers with Hermansky Pudlak syndrome type 3.Blood Cells Mol Dis. 2017 Sep;67:75-80. doi: 10.1016/j.bcmd.2017.03.001. Epub 2017 Mar 6.
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Dentin matrix protein 1 correlates with the severity of hemorrhagic fever with renal syndrome and promotes hyper-permeability of endothelial cells infected by Hantaan virus.Microbes Infect. 2019 Aug-Sep;21(7):321-327. doi: 10.1016/j.micinf.2019.01.003. Epub 2019 Feb 5.
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Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. Blood. 2004 Nov 15;104(10):3181-9. doi: 10.1182/blood-2004-04-1538. Epub 2004 Jul 20.
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ETV1 activates a rapid conduction transcriptional program in rodent and human cardiomyocytes.Sci Rep. 2018 Jul 2;8(1):9944. doi: 10.1038/s41598-018-28239-7.
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Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.Pigment Cell Melanoma Res. 2019 May;32(3):373-380. doi: 10.1111/pcmr.12748. Epub 2018 Nov 22.
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Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.Orphanet J Rare Dis. 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7.
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A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China.Medicine (Baltimore). 2019 Aug;98(33):e16899. doi: 10.1097/MD.0000000000016899.
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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.Platelets. 2018 Jan;29(1):91-94. doi: 10.1080/09537104.2017.1361019. Epub 2017 Nov 1.
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Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH.Gastroenterology. 2006 Jul;131(1):30-9. doi: 10.1053/j.gastro.2006.03.046.
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rim2 (recombination-induced mutation 2) is a new allele of pearl and a mouse model of human Hermansky-Pudlak syndrome (HPS): genetic and physical mapping.Mamm Genome. 1998 Jan;9(1):2-7. doi: 10.1007/s003359900670.
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Genetic properties of medium (M) and small (S) genomic RNA segments of Seoul hantavirus isolated from Rattus norvegicus and antigenicity analysis of recombinant nucleocapsid protein.Virus Genes. 2007 Jan;34(1):23-30. doi: 10.1007/s11262-006-0005-8. Epub 2006 Aug 22.
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Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak Syndromes.Am J Respir Cell Mol Biol. 2018 May;58(5):566-574. doi: 10.1165/rcmb.2017-0324MA.
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Hantavirus entry: Perspectives and recent advances.Adv Virus Res. 2019;104:185-224. doi: 10.1016/bs.aivir.2019.07.002. Epub 2019 Aug 7.
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