Page 189 - Haematologica3
P. 189

Platelet function in genetic immune deficiencies
5. Varga-Szabo D, Braun A, Nieswandt B. STIM1 and Orai1 in platelet function. Cell Calcium. 2011;50(3):270-278.
6. Ambily A, Kaiser WJ, Pierro C, et al. The role of plasma membrane STIM1 and Ca2+entry in platelet aggregation. STIM1 binds to novel proteins in human platelets. Cell Signal. 2014;26(3):502-511.
7. Varga-Szabo D, Braun A, Kleinschnitz C, et al. The calcium sensor STIM1 is an essen- tial mediator of arterial thrombosis and ischemic brain infarction. J Exp Med. 2008; 205(7):1583-1591.
8. Braun A, Varga-Szabo D, Kleinschnitz C, et al. Orai1 (CRACM1) is the platelet SOC channel and essential for pathological thrombus formation. Blood. 2009; 113(9):2056-2063.
9. Gilio K, Harper MT, Cosemans JM, et al. Functional divergence of platelet protein kinase C (PKC) isoforms in thrombus for- mation on collagen. J Biol Chem. 2010; 285(30):23410-23419.
10. Van Kruchten R, Braun A, Feijge MA, et al. Antithrombotic potential of blockers of store-operated calcium channels in platelets. Arterioscler Thromb Vasc Biol. 2012;32(7):1717-1723.
11. Gilio K, van Kruchten R, Braun A, et al. Roles of platelet STIM1 and Orai1 in glyco- protein VI- and thrombin-dependent pro- coagulant activity and thrombus formation. J Biol Chem. 2010;285(31):23629-23638.
12. Heemskerk JW, Mattheij NJ, Cosemans JM. Platelet-based coagulation: different popu- lations, different functions. J Thromb Haemost. 2013;11(1):2-16.
13. Malacards: human disease database. 2016. Available from: www.malacards/org
14. Shaw PJ, Feske S. Regulation of lympho- cyte function by ORAI and STIM proteins in infection and autoimmunity. J Physiol. 2012;590(17):4157-4167.
15. Nakamura L, Sandrock-Lang K, Speckmann C, et al. Platelet secretion defect in a patient with stromal interaction molecule 1 defi- ciency. Blood. 2013;122(22):3696-3698.
16. Lacruz RS, Feske S. Diseases caused by
mutations in ORAI1 and STIM1. Ann N Y
Acad Sci. 2015;1356:45-79.
17. Kuijpers TW, van de Vijver E, Weterman
MAJ, et al. LAD-1/variant syndrome is caused by mutations in FERMT3. Blood. 2009;113(19):4740-4746.
18. Van de Vijver E, De Cuyper IM, Gerrits AJ, et al. Defects in Glanzmann thrombasthe- nia and LAD-III (LAD-1/v) syndrome: the role of integrin 1 and 3 in platelet adhe- sion to collagen. Blood. 2012;119(2):583- 586.
19. Stepensky PY, Wolach B, Gavrieli R, et al. Leukocyte adhesion deficiency type III: clinical features and treatment with stem cell transplantation. J Pediatr Hematol Oncol. 2015;37(4):264-268.
20. De Witt SM, Lamers MME, Swieringa F, et al. Identification of platelet function defects by multi-parameter assessment of thrombus formation. Nat Commun. 2014;5:4257.
21. Endo Y, Noguchi S, Hara Y, et al. Dominant mutations in ORAI1 cause tubular aggre- gate myopathy with hypocalcemia via con- stitutive activation of store-operated Ca2+ channels. Hum Mol Genet. 2015;24(3):637- 648.
22. Fuchs S, Rensing-Ehl A, Speckmann C, et al. Antiviral and regulatory T cell immunity in a patient with stromal interaction mole- cule 1 deficiency. J Immunol. 2012; 188(3):1523-1533.
23. Feijge MA, van Pampus EC, Lacabaratz- Porret C, et al. Inter-individual varability in Ca2+ signalling in platelets from healthy vol- unteers, relation with expression of endomembrane Ca2+-ATPases. Br J Haematol. 1998;102(3):850-859.
24. Heemskerk JW, Vis P, Feijge MA, et al. Roles of phospholipase C and Ca2+- ATPase in calcium responses of single, fib- rinogen-bound platelets. J Biol Chem. 1993;268(1):356-363.
25. Schindelin J, Arganda-Carreras I, Frise E, et al. Fiji: an open-source platform for biolog- ical-image analysis. Nat Methods. 2012; 9(7):676-682.
26. Crazzolara R, Maurer K, Schulze H, et al. A new mutation in the KINDLIN-3 gene ablates integrin-dependent leukocyte, platelet, and osteoclast function in a patient with leukocyte adhesion deficiency-III. Pediatr Blood Cancer. 2015;62(9):1677- 1679.
27. Jurk K, Schulz AS, Kehrel BE, et al. Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficien- cy-III (LAD-III) caused by a point mutation in FERMT3. Thromb Haemost. 2010; 103(5):1053-1064.
28. Cauwenberghs S, Feijge MA, Theunissen E, et al. Novel methodology for the assess- ment of platelet transfusion therapy by measuring increased thrombus formation and thrombin generation. Br J Haematol. 2007;136(3):480-490.
29. Bergmeier W, Oh-Hora M, McCarl CA, et al. R93W mutation in Orai1 causes impaired calcium influx in platelets. Blood. 2009;113(3):675-678.
30. Hassock SR, Zhu MX, Trost C, Flockerzi V, Authi KS. Expression and role of TRPC pro- teins in human platelets: evidence that TRPC6 forms the store-independent calci- um entry channel. Blood. 2002;100(8):2801- 2811.
31. Bohm J, Bulla M, Urquhart JE, et al. ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy. Hum Mutat. 2017;38(4):426-438.
32. Maus M, Jairaman A, Stathopulos PB, et al. Missense mutation in immunodeficient patients shows the multifunctional roles of coiled-coil domain 3 (CC3) in STIM1 acti- vation. Proc Natl Acad Sci USA. 2015; 112(19):6206-6211.
33. Moser M, Nieswandt B, Ussar S, Pozgajova M, Fassler R. Kindlin-3 is essential for inte- grin activation and platelet aggregation. Nat Med. 2008;14(3):325-330.
34. Takami A, Shibayama M, Orito M, et al. Immature platelet fraction for prediction of platelet engraftment after allogeneic stem cell transplantation. Bone Marrow Transplant. 2007;39(8):501-507.
haematologica | 2018; 103(3)
549


































































































   187   188   189   190   191