Below are the most recent publications written about "Hermanski-Pudlak Syndrome" by people in Profiles.
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Imani J, Bodine SPM, Lamattina AM, Ma DD, Shrestha S, Maynard DM, Bishop K, Nwokeji A, Malicdan MCV, Testa LC, Sood R, Stump B, Rosas IO, Perrella MA, Handin R, Young LR, Gochuico BR, El-Chemaly S. Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility. Respir Res. 2022 Jun 23; 23(1):167.
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Cuevas-Mora K, Roque W, Shaghaghi H, Gochuico BR, Rosas IO, Summer R, Romero F. Hermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium of the lung. Respir Res. 2021 Feb 08; 22(1):49.
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El-Chemaly S, O'Brien KJ, Nathan SD, Weinhouse GL, Goldberg HJ, Connors JM, Cui Y, Astor TL, Camp PC, Rosas IO, Lemma M, Speransky V, Merideth MA, Gahl WA, Gochuico BR. Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation. PLoS One. 2018; 13(3):e0194193.
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Cullinane AR, Yeager C, Dorward H, Carmona-Rivera C, Wu HP, Moss J, O'Brien KJ, Nathan SD, Meyer KC, Rosas IO, Helip-Wooley A, Huizing M, Gahl WA, Gochuico BR. Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis. Am J Respir Cell Mol Biol. 2014 Mar; 50(3):605-13.
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El-Chemaly S, Malide D, Yao J, Nathan SD, Rosas IO, Gahl WA, Moss J, Gochuico BR. Glucose transporter-1 distribution in fibrotic lung disease: association with [ยน8F]-2-fluoro-2-deoxyglucose-PET scan uptake, inflammation, and neovascularization. Chest. 2013 Jun; 143(6):1685-1691.
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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. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet. 2003 Sep; 35(1):84-9.
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Kantheti P, Diaz ME, Peden AE, Seong EE, Dolan DF, Robinson MS, Noebels JL, Burmeister ML. Genetic and phenotypic analysis of the mouse mutant mh2J, an Ap3d allele caused by IAP element insertion. Mamm Genome. 2003 Mar; 14(3):157-67.
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Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet. 2003 Feb; 33(2):145-53.
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Novak EK, Gautam R, Reddington M, Collinson LM, Copeland NG, Jenkins NA, McGarry MP, Swank RT. The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudlak and Griscelli syndromes, is granule-specific and dependent on genetic background. Blood. 2002 Jul 01; 100(1):128-35.