A review of platelet secretion assays for the diagnosis of inherited platelet secretion disorders

Thrombosis and Haemostasis

Volumn 114, Issue 1, 2015, Pages 14-25

  Mumford, Andrew D ^a   Frelinger, Andrew L ^b   Gachet, Christian ^c   Gresele, Paolo ^d   Noris, Patrizia ^e   Harrison, Paul ^f   Mezzano, Diego ^g  

^a UNIVERSITY OF BRISTOL   (United Kingdom)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c UNIVERSITÉ DE STRASBOURG   (France)

^d UNIVERSITY OF PERUGIA   (Italy)

^e FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^f UNIVERSITY DEPARTMENT OF MEDICINE   (United Kingdom)

^g PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

Author keywords

Acquired; Diagnosis management; Exocytosis; Inherited; Platelet pathology; Secretion

Indexed keywords

ADENOSINE DIPHOSPHATE; ADENOSINE TRIPHOSPHATE; ALPHA 1 ANTITRYPSIN; ALPHA 2 MACROGLOBULIN; BETA THROMBOGLOBULIN; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 5; CD40 LIGAND; FIBRINOGEN; GLYCOPROTEIN; LUCIFERIN; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 1; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2; PADGEM PROTEIN; PLASMINOGEN; PLATELET DERIVED GROWTH FACTOR; POLYPHOSPHATE; SEROTONIN; THROMBOCYTE FACTOR 4; THROMBOSPONDIN; THROMBOXANE A2; VON WILLEBRAND FACTOR; BIOLOGICAL MARKER;

BIOSYNTHESIS; CHEDIAK HIGASHI SYNDROME; CONFOCAL MICROSCOPY; DIAGNOSTIC PROCEDURE; ELECTRON MICROSCOPY; ENZYME LINKED IMMUNOSORBENT ASSAY; EXOCYTOSIS; FLOW CYTOMETRY; FLUOROMETRY; GRAY PLATELET SYNDROME; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; IMMUNOFLUORESCENCE MICROSCOPY; INHERITED PLATELET SECRETION DISORDER; LIGHT TRANSMISSION AGGREGOMETRY; LUMIAGGREGOMETRY; LYSOSOME; MASS SPECTROMETRY; OCULAR ALBINISM; PLATELET SECRETION ASSAY; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUEBEC PLATELET DISORDER; REVIEW; SECRETORY GRANULE; THROMBOCYTE ACTIVATION; THROMBOCYTE AGGREGATION; THROMBOCYTE DISORDER; THROMBOCYTE RELEASE REACTION; THROMBOCYTE RICH PLASMA; VON WILLEBRAND DISEASE; BLOOD; BLOOD CLOTTING PARAMETERS; BLOOD PLATELET DISORDERS; CELL GRANULE; GENETIC PREDISPOSITION; GENETICS; HEREDITY; METABOLISM; PATHOPHYSIOLOGY; PHENOTYPE; PREDICTIVE VALUE; REPRODUCIBILITY; SECRETION (PROCESS); STANDARDS; THROMBOCYTE;

BIOMARKERS; BLOOD PLATELET DISORDERS; BLOOD PLATELETS; CYTOPLASMIC GRANULES; EXOCYTOSIS; GENETIC PREDISPOSITION TO DISEASE; HEREDITY; HUMANS; PHENOTYPE; PLATELET FUNCTION TESTS; PREDICTIVE VALUE OF TESTS; REPRODUCIBILITY OF RESULTS;

EID: 84934754949     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH14-11-0999     Document Type: Review

References (141)

1. Rolf N, et al. Clinical and laboratory phenotypes associated with the aspirin-like defect: a study in 17 unrelated families. Br J Haematol 2009; 144: 416-424.
2. Yang X, et al. Human platelet signalling defect characterized by impaired production of inositol-1,4,5-triphosphate and phosphatidic acid and diminished Pleckstrin phosphorylation: evidence for defective phospholipase C activation. Blood 1996; 88: 1676-1683.
3. Dawood BB, et al. Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel. Blood 2012; 120: 5041-5049.
4. Gresele P, et al. Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey. J Thromb Haemost 2014; 12: 1562-1569.
5. Flaumenhaft R. Platelet Secretion. In: Platelets. 3rd ed. Elsevier/Academic Press 2013; pp. 343-366.
6. Rao AK. Inherited platelet function disorders: overview and disorders of granules, secretion, and signal transduction. Hematol Oncol Clin North A 2013; 27: 585-611.
7. Holmsen H, et al. The blood platelet release reaction. Scand J Haematol Suppl 1969; 8: 3-26.
8. Charo IF, et al. Interrelations of platelet aggregation and secretion. J Clin Invest 1977; 60: 866-873.
9. Quiroga T, et al. High prevalence of bleeders of unknown cause among patients with inherited mucocutaneous bleeding. A prospective study of 280 patients and 299 controls. Haematologica 2007; 92: 357-365.
10. Gupta PK, et al. Spectrum of Von Willebrand disease and inherited platelet function disorders amongst Indian bleeders. Ann Hematol 2007; 86: 403-407.
11. Mezzano D, et al. The level of laboratory testing required for diagnosis or exclusion of a platelet function disorder using platelet aggregation and secretion assays. Semin Thromb Haemost 2009; 35: 242-254.
12. Hayward CP, et al. Diagnostic utility of light transmission platelet aggregometry: results from a prospective study of individuals referred for bleeding disorder assessments. J Thromb Haemost 2009; 7: 676-684.
13. Nieuwenhuis HK, et al. Patients with a prolonged bleeding time and normal aggregation tests may have storage pool deficiency: studies on one hundred six patients. Blood 1987; 70: 620-623.
14. Israels SJ, et al. Platelet storage pool deficiency: diagnosis in patients with prolonged bleeding times and normal platelet aggregation. Br J Haematol 1990; 75: 118-121.
15. Quiroga T, et al. Diagnosis of mild platelet function disorders. Reliability and usefulness of light transmission platelet aggregation and serotonin secretion assays. Br J Haematol 2009; 147: 729-736.
16. Gresele P, et al. Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH. J Thromb Haemost 2015; 13: 314-322.
17. Burkhart JM, et al. The first comprehensive and quantitative analysis of human platelet protein composition allows the comparative analysis of structural and functional pathways. Blood 2012; 120: e73-82.
18. Wijten P, et al. High precision platelet releasate definition by quantitative reversed protein profiling--brief report. Arterioscl Thromb Vasc Biol 2013; 33: 1635-1638.
19. Fong KP, et al. Deciphering the human platelet sheddome. Blood 2011; 117: e15-26.
20. Koseoglu S, Flaumenhaft R. Advances in platelet granule biology. Curr Opin Hematol 2013; 20: 464-471.
21. Nurden AT, Nurden P. Congenital platelet disorders and understanding of platelet function. Br J Haematol 2014; 165: 165-178.
22. Holmsen H. Physiological functions of platelets. Ann Med 1989; 21: 23-30.
23. Gerrard JM, et al. The influence of reserpine and ethylenediaminetetraacetic acid (EDTA) on serotonin storage organelles of blood platelets. Am J Pathol 1977; 87: 633-646.
24. Smith SA, Morrissey JH. Polyphosphate enhances fibrin clot structure. Blood 2008; 112: 2810-2816.
25. Gachet C. P2Y (12) receptors in platelets and other hematopoietic and non-hematopoietic cells. Purinerg Signal 2012; 8: 609-619.
26. Mezzano D, et al. Kinetics of platelet density subpopulations in splenectomized mongrel dogs. Am J Hematol 1984; 17: 373-382.
27. Saxena PR, Villalon CM. Cardiovascular effects of serotonin agonists and antagonists. J Cardiovasc Pharmacol 1990; 15 (Suppl 7): S17-34.
28. Morrissey JH. Polyphosphate: a link between platelets, coagulation and inflammation. Int J Hematol 2012; 95: 346-352.
29. Jedlitschky G, et al. Role of MRP4 (ABCC4) in platelet adenine nucleotide-storage: evidence from patients with delta-storage pool deficiencies. Am J Pathol 2010; 176: 1097-1103.
30. Ambrosio AL, et al. Mechanism of platelet dense granule biogenesis: study of cargo transport and function of Rab32 and Rab38 in a model system. Blood 2012; 120: 4072-4081.
31. Holmsen H, Dangelmaier CA. Measurement of secretion of lysosomal acid glycosidases. Methods Enzymol 1989; 169: 336-342.
32. Silverstein RL, Febbraio M. Identification of lysosome-associated membrane protein-2 as an activation-dependent platelet surface glycoprotein. Blood 1992; 80: 1470-1475.
33. Kaplan KL, et al. Platelet alpha-granule proteins: studies on release and subcellular localisation. Blood 1979; 53: 604-618.
34. Ohkawa R, et al. Platelet release of beta-thromboglobulin and platelet factor 4 and serotonin in plasma samples. Clin Biochem 2005; 38: 1023-1036.
35. Jonnalagadda D, et al. Platelet secretion is kinetically heterogeneous in an agonist- responsive manner. Blood 2012; 120: 5209-5216.
36. Holmsen H, et al. Differential energy requirements for platelet responses. A simultaneous study of aggregation, three secretory processes, arachidonate liberation, phosphatidylinositol breakdown and phosphatidate production. Biochem J 1982; 208: 9-18.
37. Sehgal S, Storrie B. Evidence that differential packaging of the major platelet granule proteins von Willebrand factor and fibrinogen can support their differential release. J Thromb Haemost 2007; 5: 2009-2016.
38. Italiano JE, Jr., et al. Angiogenesis is regulated by a novel mechanism: pro- and antiangiogenic proteins are organized into separate platelet alpha granules and differentially released. Blood 2008; 111: 1227-1233.
39. Chatterjee M, et al. Distinct platelet packaging, release, and surface expression of proangiogenic and antiangiogenic factors on different platelet stimuli. Blood 2011; 117: 3907-3911.
40. Peters CG, et al. Granule exocytosis is required for platelet spreading: differential sorting of alpha-granules expressing VAMP-7. Blood 2012; 120: 199-206.
41. van Nispen tot Pannerden H, et al. The platelet interior revisited: electron tomography reveals tubular alpha-granule subtypes. Blood 2010; 116: 1147-1156.
42. Thon JN, et al. T granules in human platelets function in TLR9 organisation and signalling. J Cell Biol 2012; 198: 561-574.
43. Kamykowski J, et al. Quantitative immunofluorescence mapping reveals little functional coclustering of proteins within platelet alpha-granules. Blood 2011; 118: 1370-1373.
44. Witkop CJ, et al. Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am J Hematol 1987; 26: 305-311.
45. Hayward CP, et al. Results of an external proficiency testing exercise on platelet dense-granule deficiency testing by whole mount electron microscopy. Am J Clin Pathol 2009; 131: 671-675.
46. Cattaneo M, et al. Recommendations for the Standardisation of Light Transmission Aggregometry: A Consensus of the Working Party from the Platelet Physiology Subcommittee of SSC/ISTH. J Thromb Haemost 2013; 11: 1183-1189.
47. Weiss HJ, et al. Heterogeneity in storage pool deficiency: studies on granulebound substances in 18 patients including variants deficient in alpha-granules, platelet factor 4, beta-thromboglobulin, and platelet-derived growth factor. Blood 1979; 54: 1296-1319.
48. Eynard N, et al. Platelet serotonin content and free and total plasma tryptophan in healthy volunteers during 24 hours. Clin Chem 1993; 39: 2337-2340.
49. Mezzano D, et al. Increase in density and accumulation of serotonin by human aging platelets. Am J Hematol 1984; 17: 11-21.
50. Brand T, Anderson GM. The measurement of platelet-poor plasma serotonin: a systematic review of prior reports and recommendations for improved analysis. Clin Chem 2011; 57: 1376-1386.
51. Mezzano D, et al. Comparative study of size, total protein, fibrinogen and 5-HT content of human and canine platelet density subpopulations. Thromb Haemost 1986; 56: 288-292.
52. Jedlitschky G, et al. Transporters in human platelets: physiologic function and impact for pharmacotherapy. Blood 2012; 119: 3394-3402.
53. Holmsen H, et al. Behaviour of endogenous and newly absorbed serotonin in the platelet release reaction. Biochem Pharmacol 1973; 22: 2599-2608.
54. Zhou L, Schmaier AH. Platelet aggregation testing in platelet-rich plasma: description of procedures with the aim to develop standards in the field. Am J Clin Pathol 2005; 123: 172-183.
55. Ge S, et al. Electrochemical measurement of endogenous serotonin release from human blood platelets. Anal Chem 2011; 83: 2598-2604.
56. Drummond AH, Gordon JL. Letter: Rapid, sensitive microassay for platelet 5HT. Thromb Diath Haemorrh 1974; 31: 366-367.
57. Holmsen H, Dangelmaier CA. Measurement of secretion of serotonin. Methods Enzymol 1989; 169: 205-210.
58. Cattaneo M, et al. Platelets from a patient heterozygous for the defect of P2CYC receptors for ADP have a secretion defect despite normal thromboxane A2 production and normal granule stores: further evidence that some cases of platelet 'primary secretion defect' are heterozygous for a defect of P2CYC receptors. Arterioscl Thromb Vasc Biol 2000; 20: E101-106.
59. Rendu F, et al. Relationship between mepacrine-labelled dense body number, platelet capacity to accumulate 14C-5-HT and platelet density in the Bernard- Soulier and Hermansky-Pudlak syndromes. Thromb Haemost 1979; 42: 694-704.
60. Wall JE, et al. A flow cytometric assay using mepacrine for study of uptake and release of platelet dense granule contents. Br J Haematol 1995; 89: 380-385.
61. Fouassier M, et al. Determination of serotonin release from platelets by HPLC and ELISA in the diagnosis of heparin-induced thrombocytopenia: comparison with reference method by [C]-serotonin release assay. J Thromb Haemost 2006; 4: 1136-1139.
62. Torfs SC, et al. Comparative analysis of serotonin in equine plasma with liquid chromatography--tandem mass spectrometry and enzyme-linked immunosorbent assay. J Vet Diag Invest 2012; 24: 1035-1042.
63. Maurer-Spurej E, et al. Diagnosing platelet delta-storage pool disease in children by flow cytometry. Am J Clin Pathol 2007; 127: 626-632.
64. Gobbi G, et al. Flow cytometry detection of serotonin content and release in resting and activated platelets. Br J Haematol 2003; 121: 892-896.
65. Maurer-Spurej E, et al. A novel immunocytochemical assay for the detection of serotonin in platelets. Br J Haematol 2002; 116: 604-611.
66. Kumar AM, et al. A modified HPLC technique for simultaneous measurement of 5-hydroxytryptamine and 5-hydroxyindoleacetic acid in cerebrospinal fluid, platelet and plasma. Life Sci 1990; 47: 1751-1759.
67. Flachaire E, et al. Determination of reference values for serotonin concentration in platelets of healthy newborns, children, adults, and elderly subjects by HPLC with electrochemical detection. Clin Chem 1990; 36: 2117-2120.
68. Pussard E, et al. Validation of HPLC-amperometric detection to measure serotonin in plasma, platelets, whole blood, and urine. Clin Chem 1996; 42: 1086-1091.
69. Anderson GM, et al. Platelet dense granule release reaction monitored by highperformance liquid chromatography-fluorometric determination of endogenous serotonin. Anal Biochem 1992; 206: 64-67.
70. Yoshitake T, et al. Derivatisation chemistries for determination of serotonin, norepinephrine and dopamine in brain microdialysis samples by liquid chromatography with fluorescence detection. Biomed Chromatogr 2006; 20: 267-281.
71. Sa M, et al. Simultaneous determination of tyrosine, tryptophan and 5-hydroxytryptamine in serum of MDD patients by high performance liquid chromatography with fluorescence detection. Clin Chim Acta 2012; 413: 973-977.
72. Holmsen H, Dangelmaier CA. Measurement of secretion of adenine nucleotides. Methods Enzymol 1989; 169: 195-205.
73. Holmsen H, Weiss HJ. Further evidence for a deficient storage pool of adenine nucleotides in platelets from some patients with thrombocytopathia--"storage pool disease". Blood 1972; 39: 197-209.
74. Feinman RD, et al. The lumi-aggregometer: a new instrument for simultaneous measurement of secretion and aggregation by platelets. J Lab Clin Med 1977; 90: 125-129.
75. Cattaneo M. Light transmission aggregometry and ATP release for the diagnostic assessment of platelet function. Semin Thromb Haemost 2009; 35: 158-167.
76. Pai M, et al. Diagnostic usefulness of a lumi-aggregometer adenosine triphosphate release assay for the assessment of platelet function disorders. Am J Clin Pathol 2011; 136: 350-358.
77. Lotta LA, et al. Prevalence of disease and relationships between laboratory phenotype and bleeding severity in platelet primary secretion defects. PloS One 2013; 8: e60396.
78. Hayward CP, et al. Simultaneous measurement of adenosine triphosphate release and aggregation potentiates human platelet aggregation responses for some subjects, including persons with Quebec platelet disorder. Thromb Haemost 2012; 107: 726-734.
79. Lordkipanidze M, et al. Simultaneous measurement of ATP release and LTA does not potentiate platelet aggregation to epinephrine. Thromb Haemost 2013; 110: 199-201.
80. McGlasson DL, Fritsma GA. Whole blood platelet aggregometry and platelet function testing. Semin Thromb Haemost 2009; 35: 168-180.
81. D'Souza L, Glueck HI. Measurement of nucleotide pools in platelets using high pressure liquid chromatography. Thromb Haemost 1977; 38: 990-1001.
82. Leoncini G, et al. Alkaline extraction and reverse-phase high-performance liquid chromatography of adenine and pyridine nucleotides in human platelets. Anal Biochem 1987; 165: 379-383.
83. White JG. Electron-dense chains and clusters in platelets from patients with storage pool-deficiency disorders. J Thromb Haemost 2003; 1: 74-79.
84. Huizing M, et al. Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. Platelets 2007; 18: 150-157.
85. Smith SA, Morrissey JH. Sensitive fluorescence detection of polyphosphate in polyacrylamide gels using 4',6-diamidino-2-phenylindol. Electrophoresis 2007; 28: 3461-3465.
86. Kaplan KL, et al. Radioimmunoassay of platelet factor 4 and beta-thromboglobulin: development and application to studies of platelet release in relation to fibrinopeptide A generation. Br J Haematol 1978; 39: 129-146.
87. Takahashi H, et al. Measurement of platelet factor 4 and beta-thromboglobulin by an enzyme-linked immunosorbent assay. Clin Chim Acta 1988; 175: 113-114.
88. Schraw T, Whiteheart S. The development of a quantitative enzyme-linked immunosorbent assay to detect human platelet factor 4. Transfusion 2005; 45: 717-724.
89. Blann AD, et al. The adhesion molecule P-selectin and cardiovascular disease. Eur Heart J 2003; 24: 2166-2179.
90. Rosa JP, et al. Gray platelet syndrome. Demonstration of alpha granule membranes that can fuse with the cell surface. J Clin Invest 1987; 80: 1138-1146.
91. Michelson AD, et al. Evidence that pre-existent variability in platelet response to ADP accounts for 'clopidogrel resistance'. J Thromb Haemost 2007; 5: 75-81.
92. Frelinger AL, 3rd, et al. Intrinsic platelet reactivity before P2Y12 blockade contributes to residual platelet reactivity despite high-level P2Y12 blockade by prasugrel or high-dose clopidogrel. Results from PRINCIPLE-TIMI 44. Thromb Haemost 2011; 106: 219-226.
93. Israels SJ, et al. Platelet dense granule membranes contain both granulophysin and P-selectin (GMP-140). Blood 1992; 80: 143-152.
94. Johnston GI, et al. Heterogeneity of platelet secretion in response to thrombin demonstrated by fluorescence flow cytometry. Blood 1987; 69: 1401-1403.
95. Tschoepe D, et al. Flow-cytometric detection of surface membrane alterations and concomitant changes in the cytoskeletal actin status of activated platelets. Cytometry 1990; 11: 652-656.
96. Dovlatova N, et al. Evaluation of a whole blood remote platelet function test for the diagnosis of mild bleeding disorders. J Thromb Haemost 2014; 12: 660-665.
97. Ayombil F, et al. Proteolysis of plasma-derived factor V following its endocytosis by megakaryocytes forms the platelet-derived factor V/Va pool. J Thromb Haemost 2013; 11: 1532-1539.
98. Suehiro Y, et al. Endocytosis and storage of plasma factor V by human megakaryocytes. Thromb Haemost 2005; 94: 585-592.
99. Giampaolo A, et al. Factor-V expression in platelets from human megakaryocytic culture. Br J Haematol 2005; 128: 108-111.
100. Duckers C, et al. Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms. Blood 2010; 115: 879-886.
101. Perdekamp MT, et al. Platelet factor V supports hemostasis in a patient with an acquired factor V inhibitor, as shown by prothrombinase and tenase assays. Blood Coag Fibrinol 2006; 17: 593-597.
102. Washington AV, et al. TREM-like transcript-1 protects against inflammationassociated hemorrhage by facilitating platelet aggregation in mice and humans. J Clin Invest 2009; 119: 1489-1501.
103. Herter JM, Rossaint J, Zarbock A. Platelets in inflammation and immunity. J Thromb Haemost 2014; 12: 1764-1775.
104. Moraes VY, et al. Platelet-rich therapies for musculoskeletal soft tissue injuries. Cochrane DB Syst Rev 2013; 12: CD010071.
105. Weeks KD, 3rd, et al. The basic science behind biologic augmentation of tendon- bone healing: a scientific review. Instr Course Lect 2014; 63: 443-450.
106. Willits K, et al. The use of platelet-rich plasma in orthopedic injuries. Sports Med Arthrosc 2013; 21: 225-230.
107. Ciferri S, Emiliani C, Guglielmini G, et al. Platelets release their lysosomal content in vivo in humans upon activation. Thromb Haemost 2000; 83: 157-164.
108. Sixma JJ, et al. Immuno-electron microscopical demonstration of lysosomes in human blood platelets and megakaryocytes using anti-cathepsin D. Blood 1985; 65: 1287-1291.
109. Divers SG, et al. Quantitation of CD62, soluble CD62, and lysosome-associated membrane proteins 1 and 2 for evaluation of the quality of stored platelet concentrates. Transfusion 1995; 35: 292-297.
110. Israels SJ, et al. The lysosomal granule membrane protein, LAMP-2, is also present in platelet dense granule membranes. Thromb Haemost 1996; 75: 623-629.
111. Nishibori M, et al. The protein CD63 is in platelet dense granules, is deficient in a patient with Hermansky-Pudlak syndrome, and appears identical to granulophysin. J Clin Invest 1993; 91: 1775-1782.
112. Huizing M, et al. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Ann Rev Genom Human G 2008; 9: 359-386.
113. Kaplan J, et al. Chediak-Higashi syndrome. Curr Opin Hematol 2008; 15: 22-29.
114. Zarzour W, et al. Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome. Mol Genet Metab 2005; 85: 125-132.
115. Albers CA, et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet 2011; 43: 735-737.
116. Gunay-Aygun M, et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. Nat Genet 2011; 43: 732-734.
117. Kahr WH, et al. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet 2011; 43: 738-740.
118. Monteferrario D, et al. A dominant-negative GFI1B mutation in the gray platelet syndrome. N Engl J Med 2014; 370: 245-253.
119. Stevenson WS, et al. GFI1B mutation causes a bleeding disorder with abnormal platelet function. J Thromb Haemost 2013; 11: 2039-2047.
120. Villeneuve J, et al. Tissue inhibitors of matrix metalloproteinases in platelets and megakaryocytes: a novel organisation for these secreted proteins. Exp Hematol 2009; 37: 849-856.
121. Blavignac J, et al. Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. Semin Thromb Haemost 2011; 37: 713-720.
122. Daly ME, et al. What is the role of genetic testing in the investigation of patients with suspected platelet function disorders? Br J Haematol 2014; 165: 193-203.
123. Maurer-Spurej E, et al. The value of proteomics for the diagnosis of a plateletrelated bleeding disorder. Platelets 2008; 19: 342-351.
124. O'Donnell VB, et al. Platelet lipidomics: modern day perspective on lipid discovery and characterisation in platelets. Circ Res 2014; 114: 1185-1203.
125. Zhu Y, et al. Specific binding of the transglutaminase, platelet factor XIII, to HSP27. J Biol Chem 1994; 269: 22379-22384.
126. Dunlop LC, et al. Characterisation of GMP-140 (P-selectin) as a circulating plasma protein. J Exp Med 1992; 175: 1147-1150.
127. Amrani DL, et al. Development of a whole platelet ELISA to detect circulating activated platelets. J Lab Clin Med 1995; 126: 603-611.
128. Otterdal K, et al. Release of soluble CD40 ligand after platelet activation: studies on the solubilisation phase. Thromb Res 2004; 114: 167-177.
129. Gartner TK, Dockter ME. Secreted platelet thrombospondin binds monovalently to platelets and erythrocytes in the absence of free Ca2+. Thromb Res 1984; 33: 19-30.
130. Kelm RJ, Jr., Mann KG. Human platelet osteonectin: release, surface expression, and partial characterisation. Blood 1990; 75: 1105-1113.
131. Harrison AA, et al. Immunoassay of platelet-derived growth factor in the blood of patients with diabetes mellitus. Diabetologia 1994; 37: 1142-1146.
132. McKeown LP, et al. Alpha granule proteins in type I von Willebrand's disease. Am J Hematol 1993; 42: 158-161.
133. Tornai I, et al. Measurement of von Willebrand factor antigen in plasma and platelets with an enzyme-linked immunosorbent assay based on two murine monoclonal antibodies. Haemostasis 1991; 21: 125-134.
134. Emiliani C, et al. Defective platelet beta-N-acetyl hexosaminidase content and release in chronic myeloproliferative disorders. Platelets 2006; 17: 20-29.
135. Choi SH, et al. Polyphosphate is a cofactor for the activation of factor XI by thrombin. Blood 2011; 118: 6963-6970.
136. Jurasz P, et al. Generation and role of angiostatin in human platelets. Blood 2003; 102: 3217-3223.
137. Jurasz P, et al. Generation of platelet angiostatin mediated by urokinase plasminogen activator: effects on angiogenesis. J Thromb Haemost 2006; 4: 1095-1106.
138. Merino J, et al. The measurement of transforming growth factor type beta (TGF beta) levels produced by peripheral blood mononuclear cells requires the efficient elimination of contaminating platelets. J Immunol Methods 1992; 153: 151-159.
139. Kopp HG, et al. Platelet-derived transforming growth factor-beta down-regulates NKG2D thereby inhibiting natural killer cell antitumor reactivity. Cancer Res 2009; 69: 7775-7783.
140. White JG. The dense bodies of human platelets: inherent electron opacity of the serotonin storage particles. Blood 1969; 33: 598-606.
141. Cramer EM, et al. Eccentric localisation of von Willebrand factor in an internal structure of platelet alpha-granule resembling that of Weibel-Palade bodies. Blood 1985; 66: 710-713.