Page 76 - Haematologica May 2022
P. 76

  G. Purgatorio et al.
 Acknowledgments
We thank M.P. Martelli for help with confocal microscopy studies.
Fundings
This study was supported by AIRC 5 × 1000, MYNERVA project, #21267 (Myeloid Neoplasms Research Venture Airc,
http://www.progettomynerva.it/). EF and LB were supported by a fellowship from Fondazione Umberto Veronesi.
Data sharing statement
All data generated and analyzed during this study are included in this published article and its additional file.
References
1. Bresnick EH, Katsumura KR, Lee HY, Johnson KD, Perkins AS. Master regulatory GATA transcription factors: mechanistic principles and emerging links to hemato- logic malignancies. Nucleic Acids Res. 2012;40(13):5819-5831.
2. McReynolds LJ, Calvo KR, Holland SM. Germline GATA2 mutation and bone mar- row failure. Hematol Oncol Clin North Am. 2018;32(4):713-728.
3. Collin M, Dickinson R, Bigley V. Haematopoietic and immune defects asso- ciated with GATA2 mutation. Br J Haematol. 2015;169(2):173-187.
4. Hsu AP, Sampaio EP, Khan J, et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infec- tion (MonoMAC) syndrome. Blood. 2011;118(10):2653-2655.
5. Dickinson RE, Griffin H, Bigley V, et al. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood. 2011;118(10):2656-2658.
6. Hahn CN, Chong CE, Carmichael CL, et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet. 2011;43(10):1012-1017.
7. Ostergaard P, Simpson MA, Connell FC, et al. Mutations in GATA2 cause primary lymphedema associated with a predisposi- tion to acute myeloid leukemia (Emberger syndrome). Nat Genet. 2011;43(10):929- 931.
8. Spinner MA, Sanchez LA, Hsu AP, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014;123(6):809-821.
9. Crispino JD, Horwitz MS. GATA factor mutations in hematologic disease. Blood. 2017;129(15):2103-2110.
10. Zolton JR, Parikh TP, Hickstein DD, et al. Oocyte cryopreservation for women with GATA2 deficiency. J Assist Reprod Genet. 2018;35(7):1201-1207.
11. Berry D, Fekrat S. Central retinal vein occlusion in GATA2 deficiency. Retin Cases Brief Rep. 2019;13(2):181-184.
12. Johnson KD, Hsu AP, Ryu MJ, et al. Cis-ele- ment mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity. J Clin Invest. 2012;122(10):3692-3704.
13. Linneman AK, O’Geen H, Keles S, Farnham PJ, Bresnick EH. Genetic framework for GATA factor function in vascular biology. Proc Natl Acad Sci USA. 2011;108(33): 13641-13646.
14. Hartmann D, Fiedler J, Sonnenschein K, et al. MicroRNA-based therapy of GATA2- deficient vascular disease. Circulation. 2016;134(24):1973-1990.
15. Zhang R, Min W, Sessa WC. Functional analysis of the human endothelial nitric oxide synthase promoter. Sp1 and GATA
factors are necessary for basal transcription in endothelial cells. J Biol Chem. 1995;270(25):15320-15326.
16. German Z, Chambliss KL, Pace MC, Arnet UA, Lowenstein CJ, Shaul PW. Molecular basis of cell-specific endothelial nitric-oxide synthase expression in airway epithelium. J Biol Chem. 2000;275(11):8183-8189.
17. Reichenbach G, Momi S, Gresele P. Nitric oxide and its antithrombotic action in the cardiovascular system. Curr Drug Targets Cardiovasc Haematol Disord. 2005;5(1): 65-74.
18. Tziros C, Freedman JE. The many antithrombotic actions of nitric oxide. Curr Drug Targets. 2006;7(10):1243-1251.
19.Gresele P, Momi S, Guglielmini G. Nitric oxide-enhancing or –releasing agents as antithrombotic drugs. Biochem Pharmacol. 2019;166:300-312.
20. Migliacci R, Becattini C, Pesavento R, et al. Endothelial dysfunction in patients with spontaneous venous thromboembolism. Haematologica. 2007;92(6):812-818.
21. Momi S, Falcinelli E, Evangelista S, Gresele P. Antithrombotic and in vivo antiplatelet activity of Nebivolol are mediated by increased platelet-derived nitric oxide. Arterioscler Thromb Vasc Biol. 2014;34(4): 820-829.
22. Martin-Ramirez J, Hofman M, Van Den Biggelaar M, Hebbel RP, Voorberg J. Establishment of outgrowth endothelial cells from peripheral blood. Nat Protocols. 2012;7(9):1709-1715.
Cytometry. 2015;92(3):211-217.
30. Cozzi MR, Guglielmini G, Battiston M, et al. Visualization of nitric oxide production by individual platelets during adhesion in flowing blood. Blood. 2015;125(4):697-705. 31. Gresele P, Pignatelli P, Guglielmini G, et al. Resveratrol, at concentrations attainable with moderate wine consumption, stimu- lates human platelet nitric oxide produc-
tion. J Nutr. 2008;138(9):1602-1608.
32. Mashimo Y, Ishikawa T, Numakura M, Kinoshita M, Teramoto T. Critical promot- er region for statin-induced human endothelial nitric oxide synthase (eNOS) transcription in EA.hy926 cells. J
Atheroscler Thromb. 2013; 20(4):321-329. 33.Wallerath T, Deckert G, Ternes T, et al. Resveratrol, a polyphenolic phytoalexin pres- ent in red wine, enhances expression and activity of endothelial nitric oxide synthase.
Circulation. 2002;106(13):1652-1658.
34. Khoo CP, Micklem K, Watt SM. A compar- ison of methods for quantifying angiogene- sis in the matrigel assay in vitro. Tissue Eng
Part C Methods. 2011;17(9):895-906.
35. Frye M, Taddei A, Dierkes C, et al. Matrix stiffness controls lymphatic vessel forma- tion through regulation of a GATA2-depen- dent transcriptional program. Nat
Commun. 2018;9(1):1511.
36. Gresele P, Momi S, Migliacci R.
Endothelium, venous thromboembolism and ischaemic cardiovascular events. Thromb Haemost. 2010;103(1):56-61.
37. Freedman JE, Loscalzo J, Benoit SE, Valeri CR, Barnard MR, Michelson AD. Decreased platelet inhibition by nitric oxide in two brothers with a history of arterial thrombosis. J Clin Invest 1996;97(4);979-987.
38.Erdmann J, Stark K, Esslinger UB, et al. Dysfunctional nitric oxide signalling increases risk of myocardial infarction. Nature. 2013;504(7480)432-436.
39. Suzuki H, Matsuzawa Y, Konishi M, et al. Utility of noninvasive endothelial function test for prediction of deep vein thrombosis after total hip or knee arthroplasty. Circ J. 2014;78(7):1723-1732.
40. Chong CE, Venugopal P, Stokes PH, et al. Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes. Leukemia. 2018;32(1):194-202.
41. Rodríguez-Caso L, Reyes-Palomares A, Sánchez-Jiménez F, Quesada AR, Medina MÁ. What is known on angiogenesis-relat- ed rare diseases? A systematic review of lit- erature. J Cell Mol Med. 2012;16(12):2872- 2893.
42. Sun LL, Li WD, Lei FR, Li XQ. The regula- tory role of microRNAs in angiogenesis- related diseases. J Cell Mol Med. 2018;22(10):4568-4587.
43. Gresele P, Cerletti C, Guglielmini G, Pignatelli P, De Gaetano G, Violi F. Effects of resveratrol and other wine polyphenols on vascular function: an update. J Nutr Biochem. 2011;22(3):201-211.
44. Forstermann U, Li H. Therapeutic effect of
23.
Cecchetti L, Tolley ND, Michetti N, Bury L, Weyrich AS, Gresele P. Megakaryocytes differentially sort mRNAs for matrix metal- loproteinases and their inhibitors into platelets: a mechanism for regulating syn- thetic events. Blood. 2011;118(7):1903- 1911.
24.Mikkelsen TS, Ku M, Jaffe DB, et al. Genome-wide maps of chromatin state in pluripotent and lineage-committed cells. Nature. 2007;448(7153):553-560.
25. He S, Wang F, Yang L, et al. Expression of DNMT1 and DNMT3a are regulated by GLI1 in human pancreatic cancer. PLoS One. 2011;6(11):e27684.
26. Sebastiano M, Momi S, Falcinelli E, Bury L, Hoylaerts MF, Gresele P. A novel mecha- nism regulating human platelet activation by MMP-2-mediated PAR1 biased signal- ing. Blood. 2017;129(7),883-895.
27. Amison RT, Momi S, Morris A, et al. RhoA signaling through platelet P2Y1 receptor controls leukocyte recruitment in allergic mice. J Allergy Clin Immunol. 2015; 135(2):528-538.
28. Bury L, Malara A, Momi S, Petito E, Balduini A, Gresele P. Mechanisms of thrombocytopenia in platelet-type von Willebrand disease. Haematologica. 2019;104(7):1473-1481.
29. Balaguer S, Diaz L, Gomes A, et al. Real- Time cytometric assay of nitric oxide and superoxide interaction in peripheral blood monocytes: a no-wash, no-lyse kinetic method. Cytometry Part B Clinical
   1084
haematologica | 2022; 107(5)
  




































   74   75   76   77   78