Featured publications
Multiomic profiling reveals metabolic alterations mediating aberrant platelet activity and inflammation in myeloproliferative neoplasms
December 7, 2023
He F, B A Laranjeira A, Kong T, Lin S, Ashworth KJ, Liu A, Lasky NM, Fisher DA, Cox MJ, Fulbright MC, Antunes Heck LA, Yu LC, Brakhane M, Gao B, Sykes SM, D’Alessandro A, Di Paola JA, Oh ST. Multiomic profiling reveals metabolic alterations mediating aberrant platelet activity and inflammation in myeloproliferative neoplasms. J Clin Invest. 2023 Dec 7:e172256. doi: 10.1172/JCI172256. Epub ahead of print. PMID: 38060311.
Single-cell transcriptional analysis of human endothelial colony-forming cells from patients with low VWF levels
April 7, 2022
Ng CJ, Liu A, Venkataraman S, Ashworth KJ, Baker CD, O’Rourke R, Vibhakar R, Jones KL, Di Paola J. Single-cell transcriptional analysis of human endothelial colony-forming cells from patients with low VWF levels. Blood. 2022 Apr 7;139(14):2240-2251. doi: 10.1182/blood.2021010683. PMID: 35143643; PMCID: PMC8990376.
ETV6 germline mutations cause HDAC3/NCOR2 mislocalization and upregulation of interferon response genes
September 17, 2020
Fisher MH, Kirkpatrick GD, Stevens B, Jones C, Callaghan M, Rajpurkar M, Fulbright J, Cooper MA, Rowley J, Porter CC, Gutierrez-Hartmann A, Jones K, Jordan C, Pietras EM, Di Paola J. ETV6 germline mutations cause HDAC3/NCOR2 mislocalization and upregulation of interferon response genes. JCI Insight. 2020 Sep 17;5(18):e140332. doi: 10.1172/jci.insight.140332. PMID: 32841218; PMCID: PMC7526537.
TNF-α-driven inflammation and mitochondrial dysfunction define the platelet hyperreactivity of aging
August 29, 2019
Davizon-Castillo P, McMahon B, Aguila S, Bark D, Ashworth K, Allawzi A, Campbell RA, Montenont E, Nemkov T, D’Alessandro A, Clendenen N, Shih L, Sanders NA, Higa K, Cox A, Padilla-Romo Z, Hernandez G, Wartchow E, Trahan GD, Nozik-Grayck E, Jones K, Pietras EM, DeGregori J, Rondina MT, Di Paola J. TNF-α-driven inflammation and mitochondrial dysfunction define the platelet hyperreactivity of aging. Blood. 2019 Aug 29;134(9):727-740. doi: 10.1182/blood.2019000200. Epub 2019 Jul 16. PMID: 31311815; PMCID: PMC6716075.
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia
May 1, 2015
Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savoia A, Rajpurkar M, Jones K, Gowan K, Balduini C, Pecci A, Gnan C, De Rocco D, Doubek M, Li L, Lu L, Leung R, Landolt-Marticorena C, Hunger S, Heller P, Gutierrez-Hartmann A, Xiayuan L, Pluthero FG, Rowley JW, Weyrich AS, Kahr WHA, Porter CC, Di Paola J. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet. 2015 May;47(5):535-538. doi: 10.1038/ng.3253. Epub 2015 Mar 25. PMID: 25807284; PMCID: PMC4631613.
Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome
July 17, 2011
Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, Storck M, Wang K, Ryu GY, Jobe SM, Schutte BC, Moseley J, Loughran NB, Parkinson J, Weyrich AS, Di Paola J. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet. 2011 Jul 17;43(8):738-40. doi: 10.1038/ng.884. PMID: 21765413; PMCID: PMC6050511.