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.
Recent publications
- Type 1 VWD classification revisited: novel insights from combined analysis of the LoVIC and WiN studiesAtiq, F., Blok, R., van Kwawegen, C. B., Doherty, D., Lavin, M., van der Bom, J. G., O'Connell, N. M., de Meris, J., Ryan, K., Schols, S. E. M., Byrne, M., Heubel-Moenen, F. C. J. I., van Galen, K. P. M., Preston, R. J. S., Cnossen, M. H., Fijnvandraat, K., Baker, R. I., Meijer, K., James, P., Di Paola, J., & 3 othersEikenboom, J., Leebeek, F. W. G. & O'Donnell, J. S., Apr 4 2024, In: Blood. 143, 14, p. 1414-1424 11 p.Research output: Contribution […]
- Multiomic profiling reveals metabolic alterations mediating aberrant platelet activity and inflammation in myeloproliferative neoplasmsHe, F., Laranjeira, A. B. A., Kong, T., Lin, S., Ashworth, K. J., Liu, A., Lasky, N. M., Fisher, D. A. C., Cox, M. J., Fulbright, M. C., Antunes-Heck, L., Yu, L. Y., Brakhane, M., Gao, B., Sykes, S. M., D’Alessandro, A., Paola, J. D. & Oh, S. T., Feb 10 2024, In: Journal of Clinical Investigation. 134, 3, e172256.Research output: Contribution to journal › Article › peer-review
- N-Acetyl Cysteine Prevents Arterial Thrombosis in a Dose-Dependent Manner in Vitro and in MiceBresette, C. A., Ashworth, K. J., Di Paola, J. & Ku, D. N., Feb 1 2024, In: Arteriosclerosis, thrombosis, and vascular biology. 44, 2, p. E39-E53Research output: Contribution to journal › Article › peer-review
- Next generation microfluidics: fulfilling the promise of lab-on-a-chip technologiesGurkan, U. A., Wood, D. K., Carranza, D., Herbertson, L. H., Diamond, S. L., Du, E., Guha, S., Di Paola, J., Hines, P. C., Papautsky, I., Shevkoplyas, S. S., Sniadecki, N. J., Pamula, V. K., Sundd, P., Rizwan, A., Qasba, P. & Lam, W. A., 2024, (Accepted/In press) In: Lab on a Chip.Research output: Contribution to journal › Review article › peer-review
- SVEP1 is an endogenous ligand for the orphan receptor PEAR1Elenbaas, J. S., Pudupakkam, U., Ashworth, K. J., Kang, C. J., Patel, V., Santana, K., Jung, I. H., Lee, P. C., Burks, K. H., Amrute, J. M., Mecham, R. P., Halabi, C. M., Aliso, A., Di Paola, J. & Stitziel, N. O., Dec 2023, In: Nature communications. 14, 1, 850.Research output: Contribution to journal › Article › peer-review
- Author Correction: SVEP1 is an endogenous ligand for the orphan receptor PEAR1 (Nature Communications, (2023), 14, 1, (850), 10.1038/s41467-023-36486-0)Elenbaas, J. S., Pudupakkam, U., Ashworth, K. J., Kang, C. J., Patel, V., Santana, K., Jung, I. H., Lee, P. C., Burks, K. H., Amrute, J. M., Mecham, R. P., Halabi, C. M., Alisio, A., Di Paola, J. & Stitziel, N. O., Dec 2023, In: Nature communications. 14, 1, 1511.Research output: Contribution to journal › Comment/debate
- D-dimer predicts venous thromboembolism in multiple myeloma: a nested case-control studySanfilippo, K. M., Fiala, M. A., Feinberg, D., Tathireddy, H., Girard, T., Vij, R., Di Paola, J. & Gage, B. F., Nov 2023, In: Research and Practice in Thrombosis and Haemostasis. 7, 8, 102235.Research output: Contribution to journal › Article › peer-review
- Characterization of copy-number variants in a large cohort of patients with von Willebrand disease reveals a relationship between disrupted regions and disease typeZimmerman Program Investigators, Oct 2023, In: Research and Practice in Thrombosis and Haemostasis. 7, 7, 102232.Research output: Contribution to journal › Article › peer-review
- A single F153Sβ3 mutation causes constitutive integrin αIIbβ3 activation in a variant form of Glanzmann thrombastheniaKoukouritaki, S. B., Thinn, A. M. M., Ashworth, K. J., Fang, J., Slater, H. S., Du, L. M., Nguyen, H. T. T., Pillois, X., Nurden, A. T., Ng, C. J., Paola, J. D., Zhu, J. & Wilcox, D. A., Jul 11 2023, In: Blood Advances. 7, 13, p. 3180-3191 12 p.Research output: Contribution to journal › Article › peer-review
- Heterogeneity in the half-life of factor VIII concentrate in patients with hemophilia A is due to variability in the clearance of endogenous von Willebrand factoriPATH study group, May 2023, In: Journal of Thrombosis and Haemostasis. 21, 5, p. 1123-1134 12 p.Research output: Contribution to journal › Article › peer-review