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

  • Nanobody activator improves sensitivity of the von Willebrand factor activity assay to multimer sizeLiang, Q., Parker, E. T., Dean, G., Karpen, M. S., Wu, Y., Wang, X., Di Paola, J., Maier, C. L., Meeks, S. L., Lollar, P., Sidonio, R. F. & Li, R., Jul 2024, In: Journal of Thrombosis and Haemostasis. 22, 7, p. 2052-2058 7 p.Research output: Contribution to journal › Article › peer-review
  • 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 others, Eikenboom, J., Leebeek, F. W. G. & O'Donnell, J. S., Apr 4 2024, In: Blood. 143, 14, p. 1414-1424 11 p.Research […]
  • 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
  • Pediatric aspects of von Willebrand diseaseSidonio, R. F. & Di Paola, J., Jan 1 2024, Textbook of von Willebrand Disease: Basic and Clinical Aspects. wiley, p. 177-183 7 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter › 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

Complete bibliography