Blood Reviews
Volume 22, Issue 3 , Pages 155-172 , May 2008

Inherited traits affecting platelet function

References 

  1. Kaushansky K. The molecular mechanisms that control thrombopoiesis. Journal of Clinical Investigation. 2005;115:3339–3347
  2. Patel SR, Hartwig JH, Italiano JE. The biogenesis of platelets from megakaryocyte proplatelets. Journal of Clinical Investigation. 2005;115:3348–3354
  3. Willoughby S, Holmes A, Loscalzo J. Platelets and cardiovascular disease. European Journal of Cardiovascular Nursing. 2002;1:273–288
  4. Bennett JS. Structure and function of the platelet integrin alphaIIbbeta3. Journal of Clinical Investigation. 2005;115:3363–3369
  5. Zarbock A, Polanowska-Grabowska RK, Ley K. Platelet-neutrophil-interactions: Linking hemostasis and inflammation. Blood Reviews. 2007;21:99–111
  6. Deckmyn H, Vanhoorelbeke K, Ulrichts H et al. Amplification loops and signal transduction pathways. eds. Leuven university Press, 75–91, 2003.
  7. Savage B, Almus-Jacobs F, Ruggeri ZM. Specific synergy of multiple substrate-receptor interactions in platelet thrombus formation under flow. Cell. 1998;94:657–666
  8. Ruggeri ZM. Von Willebrand factor. Current Opinion in Hematology. 2003;10:142–149
  9. Nieswandt B, Watson SP. Platelet-collagen interaction: is GPVI the central receptor?. Blood. 2003;102:449–461
  10. Watson SP, Auger JM, McCarty OJ, Pearce AC. GPVI and integrin alphaIIb beta3 signaling in platelets. Journal of Thrombosis & Haemostasis. 2005;3:1752–1762
  11. Coughlin SR. Protease-activated receptors in hemostasis, thrombosis and vascular biology. Journal of Thrombosis & Haemostasis. 2005;3:1800–1814
  12. Leger AJ, Covic L, Kuliopulos A. Protease-activated receptors in cardiovascular diseases. Circulation. 2006;114:1070–1077
  13. Jackson SP, Nesbitt WS, Kulkarni S. Signaling events underlying thrombus formation. Journal of Thrombosis & Haemostasis. 2003;1:1602–1612
  14. Wu YP, Vink T, Schiphorst M, et al. Platelet thrombus formation on collagen at high shear rates is mediated by von Willebrand factor-glycoprotein Ib interaction and inhibited by von Willebrand factor-glycoprotein IIb/IIIa interaction. Arteriosclerosis, Thrombosis & Vascular Biology. 2000;20:1661–1667
  15. Bergmeier W, Piffath CL, Goerge T, et al. The role of platelet adhesion receptor GPIbalpha far exceeds that of its main ligand, von Willebrand factor, in arterial thrombosis. Proceedings of the National Academy of Sciences of the United States of America. 2006;103:16900–16905
  16. Bolton-Maggs PH, Chalmers EA, Collins PW, et al. A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. British Journal of Haematology. 2006;135:603–633
  17. Lopez JA, Andrews RK, Afshar-Kharghan V, Berndt MC. Bernard-Soulier syndrome. Blood. 1998;91:4397–4418
  18. Lopez JA. The platelet glycoprotein Ib-IX complex. Blood Coagulation & Fibrinolysis. 1994;5:97–119
  19. Hickey MJ, Williams SA, Roth GJ. Human platelet glycoprotein IX: an adhesive prototype of leucine-rich glycoproteins with flank-center-flank structures. Proceedings of the National Academy of Sciences of the United States of America. 1989;86:6773–6777
  20. Hickey MJ, Hagen FS, Yagi M, Roth GJ. Human platelet glycoprotein V: characterization of the polypeptide and the related Ib-V-IX receptor system of adhesive, leucine-rich glycoproteins. Proceedings of the National Academy of Sciences of the United States of America. 1993;90:8327–8331
  21. Lopez JA, Chung DW, Fujikawa K, et al. The alpha and beta chains of human platelet glycoprotein Ib are both transmembrane proteins containing a leucine-rich amino acid sequence. Proceedings of the National Academy of Sciences of the United States of America. 1988;85:2135–2139
  22. Du X, Beutler L, Ruan C, Castaldi PA, Berndt MC. Glycoprotein Ib and glycoprotein IX are fully complexed in the intact platelet membrane. Blood. 1987;69:1524–1527
  23. Lanza F. Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy). Orphanet J Rare Dis. 2006;1:46
  24. Dong JF, Gao S, Lopez JA. Synthesis, assembly, and intracellular transport of the platelet glycoprotein Ib-IX-V complex. Journal of Biological Chemistry. 1998;273:31449–31454
  25. Ludlow LB, Schick BP, Budarf ML, et al. Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. J Biol Chem. 1996;271:22076–22080
  26. Watanabe R, Ishibashi T, Saitoh Y, et al. Bernard-soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ib(beta) gene. Blood Coagul Fibrinolysis. 2003;14:387–394
  27. Strassel C, David T, Eckly A, et al. Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells. J Thromb Haemost. 2006;4:217–228
  28. Lanza F, De La Salle C, Baas MJ, et al. A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex. Br J Haematol. 2002;118:260–266
  29. Wang Z, Zhao X, Duan W, et al. A novel mutation in the transmembrane region of glyco-protein IX associated with Bernard-Soulier syndrome. Thromb Haemost. 2004;92:606–613
  30. Ware J, Russell S, Ruggeri ZM. Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome. Proc Natl Acad Sci U S A. 2000;97:2803–2808
  31. Poujol C, Ware J, Nieswandt B, Nurden AT, Nurden P. Absence of GPIbalpha is responsible for aberrant membrane development during megakaryocyte maturation: ultrastructural study using a transgenic model. Exp Hematol. 2002;30:352–360
  32. Kanaji T, Russell S, Ware J. Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndrome. Blood. 2002;100:2102–2107
  33. Kato K, Martinez C, Russell S, et al. Genetic deletion of mouse platelet glycoprotein Ibbeta produces a Bernard-Soulier phenotype with increased alpha-granule size. Blood. 2004;104:2339–2344
  34. Strassel C, Nonne C, Eckly A, et al. Decreased thrombotic tendency in mouse models of the Bernard-Soulier syndrome. Arterioscler Thromb Vasc Biol. 2007;27:241–247
  35. Kahn ML, Diacovo TG, Bainton DF, et al. Glycoprotein V-deficient platelets have undiminished thrombin responsiveness and Do not exhibit a Bernard-Soulier phenotype. Blood. 1999;94:4112–4121
  36. Poujol C, Nurden AT, Nurden P. Ultrastructural analysis of the distribution of the vitronectin receptor (alpha v beta 3) in human platelets and megakaryocytes reveals an intracellular pool and labelling of the alpha-granule membrane. Br J Haematol. 1997;96:823–835
  37. Takahashi H, Murata M, Moriki T, et al. Substitution of Val for Met at residue 239 of platelet glycoprotein Ib alpha in Japanese patients with platelet-type von Willebrand disease. Blood. 1995;85:727–733
  38. Miller JL, Cunningham D, Lyle VA, Finch CN. Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. Proc Natl Acad Sci U S A. 1991;88:4761–4765
  39. Russell SD, Roth GJ. Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor. Blood. 1993;81:1787–1791
  40. Nurden P, Lanza F, Bonnafous-Faurie C, Nurden A. A second report of platelet-type von Willebrand disease with a Gly233Ser mutation in the GPIBA gene. Thromb Haemost. 2007;97:319–321
  41. Othman M, Notley C, Lavender FL, et al. Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease. Blood. 2005;105:4330–4336
  42. Moriki T, Murata M, Kitaguchi T, et al. Expression and functional characterization of an abnormal platelet membrane glycoprotein Ib alpha (Met239 –> Val) reported in patients with platelet-type von Willebrand disease. Blood. 1997;90:698–705
  43. Bellucci S, Caen J. Molecular basis of Glanzmann’s Thrombasthenia and current strategies in treatment. Blood Rev. 2002;16:193–202
  44. George JN, Caen JP, Nurden AT. Glanzmann’s thrombasthenia: the spectrum of clinical disease. Blood. 1990;75:1383–1395
  45. Nurden AT. Glanzmann thrombasthenia. Orphanet J Rare Dis. 2006;1:10
  46. Bray PF, Barsh G, Rosa JP, et al. Physical linkage of the genes for platelet membrane glycoproteins IIb and IIIa. Proc Natl Acad Sci U S A. 1988;85:8683–8687
  47. Loftus JC, O’Toole TE, Plow EF, et al. A beta 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformation. Science. 1990;249:915–918
  48. Bajt ML, Ginsberg MH, Frelinger AL, Berndt MC, Loftus JC. A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site. J Biol Chem. 1992;267:3789–3794
  49. Lanza F, Stierle A, Fournier D, et al. A new variant of Glanzmann’s thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg—-214Trp mutation. J Clin Invest. 1992;89:1995–2004
  50. Shiraga M, Tomiyama Y, Honda S, et al. Involvement of Na+/Ca2+ exchanger in inside-out signaling through the platelet integrin IIbbeta3. Blood. 1998;92:3710–3720
  51. Chen YP, Djaffar I, Pidard D, et al. Ser-752–>Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia. Proc Natl Acad Sci U S A. 1992;89:10169–10173
  52. Peyruchaud O, Nurden AT, Milet S, et al. R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann’s thrombasthenia-like syndrome. Blood. 1998;92:4178–4787
  53. Wang R, Shattil SJ, Ambruso DR, Newman PJ. Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)beta3 complex. J Clin Invest. 1997;100:2393–2403
  54. Chen P, Melchior C, Brons NH, et al. Probing conformational changes in the I-like domain and the cysteine-rich repeat of human beta 3 integrins following disulfide bond disruption by cysteine mutations: identification of cysteine 598 involved in alphaIIbbeta3 activation. J Biol Chem. 2001;276:38628–38635
  55. Ruiz C, Liu CY, Sun QH, et al. A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (alphaIIbbeta3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia-like phenotype. Blood. 2001;98:2432–2441
  56. Hodivala-Dilke KM, McHugh KP, Tsakiris DA, et al. Beta3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival. J Clin Invest. 1999;103:229–238
  57. McHugh KP, Hodivala-Dilke K, Zheng MH, et al. Mice lacking beta3 integrins are osteosclerotic because of dysfunctional osteoclasts. J Clin Invest. 2000;105:433–440
  58. Reynolds LE, Wyder L, Lively JC, et al. Enhanced pathological angiogenesis in mice lacking beta3 integrin or beta3 and beta5 integrins. Nat Med. 2002;8:27–34
  59. Taverna D, Moher H, Crowley D, et al. Increased primary tumor growth in mice null for beta3- or beta3/beta5-integrins or selectins. Proc Natl Acad Sci U S A. 2004;101:763–768
  60. Wilcox DA, Fang J, Johnson BD, Valentin N. Modulating murine platelet function by expressing integrin alphaIIbbeta3 locked-in its high affinity state. J Thromb Haemost. 2003;3:OR108
  61. Fang J, Hodivala-Dilke K, Johnson BD, et al. Therapeutic expression of the platelet-specific integrin, alphaIIbbeta3, in a murine model for Glanzmann thrombasthenia. Blood. 2005;106:2671–2679
  62. Wilcox DA, Fang J, Jensen ES, Du LM, Boudreaux MK. Therapeutic expression of a platelet-specific integrin restores hemostasis in dogs with Glanzmann thrombasthenia. Molecular Therapy. 2007;15:S295
  63. Hirata T, Kakizuka A, Ushikubi F, et al. Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder. Journal of Clinical Investigation. 1994;94:1662–1667
  64. Okuma M, Hirata T, Ushikubi F, Kakizuka A, Narumiya S. Molecular characterization of a dominantly inherited bleeding disorder with impaired platelet responses to thromboxane A2. Polish Journal of Pharmacology. 1996;48:77–82
  65. Fuse I, Higuchi W, Aizawa Y. Arg60 Leu mutation in the first cytoplasmic loop of the platelet thromboxane A2 receptor is not essential for mediating inhibitory coupling between the receptor and adenylyl cyclase. Acta Haematologica. 2000;104:95–98
  66. Fuse I, Mito M, Hattori A, et al. Defective signal transduction induced by thromboxane A2 in a patient with a mild bleeding disorder: impaired phospholipase C activation despite normal phospholipase A2 activation. Blood. 1993;81:994–1000
  67. Higuchi W, Fuse I, Hattori A, Aizawa Y. Mutations of the platelet thromboxane A2 (TXA2) receptor in patients characterized by the absence of TXA2-induced platelet aggregation despite normal TXA2 binding activity. Thrombosis & Haemostasis. 1999;82:1528–1531
  68. Armstrong RA, Jones RL, Peesapati V, Will SG, Wilson NH. Competitive antagonism at thromboxane receptors in human platelets. British Journal of Pharmacology. 1985;84:595–607
  69. Thomas DW, Mannon RB, Mannon PJ, et al. Coagulation defects and altered hemodynamic responses in mice lacking receptors for thromboxane A2. Journal of Clinical Investigation. 1998;102:1994–2001
  70. Babaev VR, Ding L, Reese J, et al. Cyclooxygenase-1 deficiency in bone marrow cells increases early atherosclerosis in apolipoprotein E- and low-density lipoprotein receptor-null mice. Circulation. 2006;113:108–117
  71. Yu IS, Lin SR, Huang CC, et al. TXAS-deleted mice exhibit normal thrombopoiesis, defective hemostasis, and resistance to arachidonate-induced death. Blood. 2004;104:135–142
  72. Moroi M, Jung SM, Okuma M, Shinmyozu K. A patient with platelets deficient in glycoprotein VI that lack both collagen-induced aggregation and adhesion. Journal of Clinical Investigation. 1989;84:1440–1445
  73. Ryo R, Yoshida A, Sugano W, et al. Deficiency of P62, a putative collagen receptor, in platelets from a patient with defective collagen-induced platelet aggregation. American Journal of Hematology. 1992;39:25–31
  74. Arai M, Yamamoto N, Moroi M, et al, Platelets with 10% of the normal amount of glycoprotein VI have an impaired response to collagen that results in a mild bleeding tendency.[erratum appears in Br J Haematol 1995 Apr;89(4):952]. British Journal of Haematology 1995;89:124–30.
  75. Nurden P, Jandrot-Perrus M, Combrie R, et al. Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome. Blood. 2004;104:107–114
  76. Kojima H, Moroi M, Jung SM, et al. Characterization of a patient with glycoprotein (GP) VI deficiency possessing neither anti-GPVI autoantibody nor genetic aberration. Journal of Thrombosis & Haemostasis. 2006;4:2433–2442
  77. Kehrel B, Wierwille S, Clemetson KJ, et al. Glycoprotein VI is a major collagen receptor for platelet activation: it recognizes the platelet-activating quaternary structure of collagen, whereas CD36, glycoprotein IIb/IIIa, and von Willebrand factor do not. Blood. 1998;91:491–499
  78. Bellucci S, Huisse MG, Boval B, et al. Defective collagen-induced platelet activation in two patients with malignant haemopathies is related to a defect in the GPVI-coupled signalling pathway. Thrombosis & Haemostasis. 2005;93:130–138
  79. Dunkley S, Arthur JF, Evans S, et al. A familial platelet function disorder associated with abnormal signalling through the glycoprotein VI pathway. British Journal of Haematology. 2007;137:569–577
  80. Siljander PR, Munnix IC, Smethurst PA, et al. Platelet receptor interplay regulates collagen-induced thrombus formation in flowing human blood. Blood. 2004;103:1333–1341
  81. Lockyer S, Okuyama K, Begum S, et al. GPVI-deficient mice lack collagen responses and are protected against experimentally induced pulmonary thromboembolism. Thrombosis Research. 2006;118:371–380
  82. Nieswandt B, Brakebusch C, Bergmeier W, et al. Glycoprotein VI but not alpha2beta1 integrin is essential for platelet interaction with collagen. EMBO Journal. 2001;20:2120–2130
  83. Kato K, Kanaji T, Russell S, et al. The contribution of glycoprotein VI to stable platelet adhesion and thrombus formation illustrated by targeted gene deletion. Blood. 2003;102:1701–1717
  84. Massberg S, Gawaz M, Gruner S, et al. A crucial role of glycoprotein VI for platelet recruitment to the injured arterial wall in vivo. Journal of Experimental Medicine. 2003;197:41–49
  85. Konstantinides S, Ware J, Marchese P, et al. Distinct antithrombotic consequences of platelet glycoprotein Ibalpha and VI deficiency in a mouse model of arterial thrombosis. Journal of Thrombosis & Haemostasis. 2006;4:2014–2021
  86. Mangin P, Yap CL, Nonne C, et al. Thrombin overcomes the thrombosis defect associated with platelet GPVI/FcRgamma deficiency. Blood. 2006;107:4346–4353
  87. Dubois C, Panicot-Dubois L, Merrill-Skoloff G, Furie B, Furie BC. Glycoprotein VI-dependent and -independent pathways of thrombus formation in vivo. Blood. 2006;107:3902–3906
  88. Nieuwenhuis HK, Akkerman JW, Houdijk WP, Sixma JJ. Human blood platelets showing no response to collagen fail to express surface glycoprotein Ia. Nature. 1985;318:470–472
  89. Nieuwenhuis HK, Sakariassen KS, Houdijk WP, Nievelstein PF, Sixma JJ. Deficiency of platelet membrane glycoprotein Ia associated with a decreased platelet adhesion to subendothelium: a defect in platelet spreading. Blood. 1986;68:692–695
  90. Kehrel B, Balleisen L, Kokott R, et al. Deficiency of intact thrombospondin and membrane glycoprotein Ia in platelets with defective collagen-induced aggregation and spontaneous loss of disorder. Blood. 1988;71:1074–1078
  91. Handa M, Watanabe K, Kawai Y, et al. Platelet unresponsiveness to collagen: involvement of glycoprotein Ia-IIa (alpha 2 beta 1 integrin) deficiency associated with a myeloproliferative disorder. Thrombosis & Haemostasis. 1995;73:521–528
  92. Chen J, Diacovo TG, Grenache DG, Santoro SA, Zutter MM. The alpha(2) integrin subunit-deficient mouse: a multifaceted phenotype including defects of branching morphogenesis and hemostasis[see comment]. American Journal of Pathology. 2002;161:337–344
  93. Holtkotter O, Nieswandt B, Smyth N, et al. Integrin alpha 2-deficient mice develop normally, are fertile, but display partially defective platelet interaction with collagen. Journal of Biological Chemistry. 2002;277:10789–10794
  94. Gruner S, Prostredna M, Schulte V, et al. Multiple integrin-ligand interactions synergize in shear-resistant platelet adhesion at sites of arterial injury in vivo. Blood. 2003;102:4021–4027
  95. He L, Pappan LK, Grenache DG, et al. The contributions of the alpha 2 beta 1 integrin to vascular thrombosis in vivo. Blood. 2003;102:3652–3657
  96. Cattaneo M, Lecchi A. Patients with congenital abnormality of platelet aggregation induced by Ca(2+) ionophores may have a defect of the platelet P2Y(12) receptor for ADP [comment]. British Journal of Haematology. 2001;115:485–487
  97. Cattaneo M, Zighetti ML, Lombardi R, et al. Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding. Proceedings of the National Academy of Sciences of the United States of America. 2003;100:1978–1983
  98. Shiraga M, Miyata S, Kato H, et al. Impaired platelet function in a patient with P2Y12 deficiency caused by a mutation in the translation initiation codon. Journal of Thrombosis & Haemostasis. 2005;3:2315–2323
  99. Remijn JA, MJ IJ, Strunk AL, et al. Novel molecular defect in the platelet ADP receptor P2Y12 of a patient with haemorrhagic diathesis. Clinical Chemistry & Laboratory Medicine. 2007;45:187–189
  100. Foster CJ, Prosser DM, Agans JM, et al. Molecular identification and characterization of the platelet ADP receptor targeted by thienopyridine antithrombotic drugs [see comment]. Journal of Clinical Investigation. 2001;107:1591–1598
  101. Gachet C. Regulation of platelet functions by P2 receptors. Annual Review of Pharmacology & Toxicology. 2006;46:277–300
  102. Fabre JE, Nguyen M, Latour A, et al. Decreased platelet aggregation, increased bleeding time and resistance to thromboembolism in P2Y1-deficient mice. Nature Medicine. 1999;5:1199–1202
  103. Hechler B, Zhang Y, Eckly A, et al. Lineage-specific overexpression of the P2Y1 receptor induces platelet hyper-reactivity in transgenic mice. Journal of Thrombosis & Haemostasis. 2003;1:155–163
  104. Gabbeta J, Vaidyula VR, Dhanasekaran DN, Rao AK. Human platelet Galphaq deficiency is associated with decreased Galphaq gene expression in platelets but not neutrophils. Thrombosis & Haemostasis. 2002;87:129–133
  105. Offermanns S, Toombs CF, Hu YH, Simon MI. Defective platelet activation in G alpha(q)-deficient mice. Nature. 1997;389:183–186
  106. Moers A, Wettschureck N, Gruner S, Nieswandt B, Offermanns S. Unresponsiveness of platelets lacking both Galpha(q) and Galpha(13). Implications for collagen-induced platelet activation. Journal of Biological Chemistry. 2004;279:45354–45359
  107. Jaeken JC, Freson K, Goemans NM, et al. G protein diseases: newly recognized causes of metabolic encephalopathy. European Journal of Paediatric Neurology. 2003;7:211–215
  108. Freson K, Hoylaerts MF, Jaeken J, et al. Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding. Thrombosis & Haemostasis. 2001;86:733–738
  109. Freson K, Jaeken J, Van Helvoirt M, et al. Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation. Human Molecular Genetics. 2003;12:1121–1130
  110. Patel YM, Patel K, Rahman S, et al. Evidence for a role for Galphai1 in mediating weak agonist-induced platelet aggregation in human platelets: reduced Galphai1 expression and defective Gi signaling in the platelets of a patient with a chronic bleeding disorder. Blood. 2003;101:4828–4835
  111. Jantzen HM, Milstone DS, Gousset L, Conley PB, Mortensen RM. Impaired activation of murine platelets lacking G alpha(i2). Journal of Clinical Investigation. 2001;108:477–483
  112. Mao GF, Vaidyula VR, Kunapuli SP, Rao AK. Lineage-specific defect in gene expression in human platelet phospholipase C-beta2 deficiency. Blood. 2002;99:905–911
  113. Wang D, Feng J, Wen R, et al. Phospholipase Cgamma2 is essential in the functions of B cell and several Fc receptors. Immunity. 2000;13:25–35
  114. Nonne C, Lenain N, Hechler B, et al. Importance of platelet phospholipase Cgamma2 signaling in arterial thrombosis as a function of lesion severity. Arteriosclerosis, Thrombosis & Vascular Biology. 2005;25:1293–1298
  115. Orange JS, Stone KD, Turvey SE, Krzewski K. The Wiskott-Aldrich syndrome. Cell Mol Life Sci. 2004;61:2361–2385
  116. Baldini MG. Nature of the platelet defect in the Wiskott-Aldrich syndrome. Annals of the New York Academy of Sciences. 1972;201:437–444
  117. Grottum KA, Hovig T, Holmsen H, et al. Wiskott-Aldrich syndrome: qualitative platelet defects and short platelet survival. British Journal of Haematology. 1969;17:373–388
  118. Stormorken H, Hellum B, Egeland T, Abrahamsen TG, Hovig T. X-linked thrombocytopenia and thrombocytopathia: attenuated Wiskott-Aldrich syndrome. Functional and morphological studies of platelets and lymphocytes. Thrombosis & Haemostasis. 1991;65:300–305
  119. Nurden AT, Nurden P, Inherited defects of platelet function. Reviews in Clinical & Experimental Hematology 5, 314-34; quiz following 431, 2001.
  120. Imai K, Nonoyama S, Ochs HD. WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. Current Opinion in Allergy & Clinical Immunology. 2003;3:427–436
  121. Takenawa T, Suetsugu S. The WASP-WAVE protein network: connecting the membrane to the cytoskeleton. Nature Reviews Molecular Cell Biology. 2007;8:37–48
  122. Charrier S, Stockholm D, Seye K, et al. A lentiviral vector encoding the human Wiskott-Aldrich syndrome protein corrects immune and cytoskeletal defects in WASP knockout mice. Gene Therapy. 2005;12:597–606
  123. Charrier S, Dupre L, Scaramuzza S, et al. Lentiviral vectors targeting WASp expression to hematopoietic cells, efficiently transduce and correct cells from WAS patients. Gene Therapy. 2007;14:415–428
  124. Nurden AT, Nurden P. The gray platelet syndrome: clinical spectrum of the disease. Blood Reviews. 2007;21:21–36
  125. Drouin A, Favier R, Masse JM, et al. Newly recognized cellular abnormalities in the gray platelet syndrome. Blood. 2001;98:1382–1391
  126. Swank RT, Jiang SY, Reddington M, et al. Inherited abnormalities in platelet organelles and platelet formation and associated altered expression of low molecular weight guanosine triphosphate-binding proteins in the mouse pigment mutant gunmetal. Blood. 1993;81:2626–2635
  127. Novak EK, Reddington M, Zhen L, et al. Inherited thrombocytopenia caused by reduced platelet production in mice with the gunmetal pigment gene mutation. Blood. 1995;85:1781–1789
  128. Detter JC, Zhang Q, Mules EH, et al. Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis. Proceedings of the National Academy of Sciences of the United States of America. 2000;97:4144–4149
  129. Zhang Q, Zhen L, Li W, et al. Cell-specific abnormal prenylation of Rab proteins in platelets and melanocytes of the gunmetal mouse. British Journal of Haematology. 2002;117:414–423
  130. Kimura Y, Hart A, Hirashima M, et al. Zinc finger protein, Hzf, is required for megakaryocyte development and hemostasis. Journal of Experimental Medicine. 2002;195:941–952
  131. Benit L, Cramer EM, Masse JM, Dusanter-Fourt I, Favier R. Molecular study of the hematopoietic zinc finger gene in three unrelated families with gray platelet syndrome. Journal of Thrombosis & Haemostasis. 2005;3:2077–2080
  132. Tubman VN, Levine JE, Campagna DR, et al. X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. Blood. 2007;109:3297–3299
  133. Hayward CP, Cramer EM, Kane WH, et al. Studies of a second family with the Quebec platelet disorder: evidence that the degradation of the alpha-granule membrane and its soluble contents are not secondary to a defect in targeting proteins to alpha-granules. Blood. 1997;89:1243–1253
  134. Kahr WH, Zheng S, Sheth PM, et al. Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator. Blood. 2001;98:257–265
  135. Diamandis M, Adam F, Kahr WH, et al. Insights into abnormal hemostasis in the Quebec platelet disorder from analyses of clot lysis. Journal of Thrombosis & Haemostasis. 2006;4:1086–1094
  136. McKay H, Derome F, Haq MA, et al. Bleeding risks associated with inheritance of the Quebec platelet disorder. Blood. 2004;104:159–165
  137. Kufrin D, Eslin DE, Bdeir K, et al. Antithrombotic thrombocytes: ectopic expression of urokinase-type plasminogen activator in platelets. Blood. 2003;102:926–933
  138. Favier R, Douay L, Esteva B, et al. A novel genetic thrombocytopenia (Paris-Trousseau) associated with platelet inclusions, dysmegakaryopoiesis and chromosome deletion AT 11q23. Comptes Rendus de L’Academie des Sciences - Serie Iii, Sciences de la Vie. 1993;316:698–701
  139. Grossfeld PD, Mattina T, Lai Z, et al. The 11q terminal deletion disorder: a prospective study of 110 cases. American Journal of Medical Genetics. Part A. 2004;129:51–61
  140. Favier R, Jondeau K, Boutard P, et al. Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases [see comment]. Thrombosis & Haemostasis. 2003;90:893–897
  141. Raslova H, Komura E, Le Couedic JP, et al. FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia [see comment]. Journal of Clinical Investigation. 2004;114:77–84
  142. Wenger SL, Grossfeld PD, Siu BL, et al. Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. American Journal of Medical Genetics. Part A. 2006;140:704–708
  143. Gissen P, Tee L, Johnson CA, et al. Clinical and molecular genetic features of ARC syndrome. Human Genetics. 2006;120:396–409
  144. Gissen P, Johnson CA, Morgan NV, et al. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nature Genetics. 2004;36:400–404
  145. Lo B, Li L, Gissen P, et al. Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis. Blood. 2005;106:4159–4166
  146. Gunay-Aygun M, Huizing M, Gahl WA. Molecular defects that affect platelet dense granules. Seminars in Thrombosis & Hemostasis. 2004;30:537–547
  147. 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
  148. Witkop CJ, Nunez Babcock M, Rao GH, et al. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Boletin - Asociacion Medica de Puerto Rico. 1990;82:333–339
  149. Di Pietro SM, Dell’Angelica EC. The cell biology of Hermansky-Pudlak syndrome: recent advances. Traffic. 2005;6:525–533
  150. Morgan NV, Pasha S, Johnson CA, et al. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). American Journal of Human Genetics. 2006;78:160–166
  151. Wei ML. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Research. 2006;19:19–42
  152. Nurden AT. Qualitative disorders of platelets and megakaryocytes. Journal of Thrombosis & Haemostasis. 2005;3:1773–1782
  153. Introne W, Boissy RE, Gahl WA. Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Molecular Genetics & Metabolism. 1999;68:283–303
  154. Buchanan GR, Handin RI. Platelet function in the Chediak-Higashi syndrome. Blood. 1976;47:941–948
  155. Perou CM, Moore KJ, Nagle DL, et al. Identification of the murine beige gene by YAC complementation and positional cloning. Nature Genetics. 1996;13:303–308
  156. Nagle DL, Karim MA, Woolf EA, et al. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome [see comment]. Nature Genetics. 1996;14:307–311
  157. Tchernev VT, Mansfield TA, Giot L, et al. The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. Molecular Medicine. 2002;8:56–64
  158. Zhang H, Fan X, Bagshaw RD, et al. Lysosomal Membranes from Beige Mice Contain higher Than Normal Levels of Endoplasmic Reticulum Proteins. Journal of proteome research. 2007;6:240–249
  159. Nieuwenhuis HK, Akkerman JW, Sixma JJ. 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
  160. Chintala S, Tan J, Gautam R, et al. The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules. Blood. 2007;109:1533–1540
  161. Tolmachova T, Abrink M, Futter CE, Authi KS, Seabra MC. Rab27b regulates number and secretion of platelet dense granules. Proceedings of the National Academy of Sciences of the United States of America. 2007;104:5872–5877
  162. Van Geet C, Freson K, in 9th-UK-1st NL Platelet meeting 17 (King’s College London, 2007).
  163. White JG, Keel S, Reyes M, Burris SM. Alpha-delta platelet storage pool deficiency in three generations. Platelets. 2007;18:1–10
  164. Zwaal RF, Comfurius P, Bevers EM. Scott syndrome, a bleeding disorder caused by defective scrambling of membrane phospholipids. Biochim Biophys Acta. 2004;1636:119–128
  165. Weiss HJ, Vicic WJ, Lages BA, Rogers J. Isolated deficiency of platelet procoagulant activity. Am J Med. 1979;67:206–213
  166. Toti F, Satta N, Fressinaud E, Meyer D, Freyssinet JM. Scott syndrome, characterized by impaired transmembrane migration of procoagulant phosphatidylserine and hemorrhagic complications, is an inherited disorder. Blood. 1996;87:1409–1415
  167. Munnix IC, Harmsma M, Giddings JC, et al. Store-mediated calcium entry in the regulation of phosphatidylserine exposure in blood cells from Scott patients. Thromb Haemost. 2003;89:687–695
  168. Albrecht C, McVey JH, Elliott JI, et al. A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. Blood. 2005;106:542–549
  169. Brooks MB, Catalfamo JL, Brown HA, Ivanova P, Lovaglio J. A hereditary bleeding disorder of dogs caused by a lack of platelet procoagulant activity. Blood. 2002;99:2434–2441
  170. Stormorken H, Sjaastad O, Langslet A, et al. A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis. Clin Genet. 1985;28:367–374
  171. Stormorken H, Holmsen H, Sund R, et al. Studies on the haemostatic defect in a complicated syndrome. An inverse Scott syndrome platelet membrane abnormality?. Thromb Haemost. 1995;74:1244–1251
  172. Weiss EJ, Bray PF, Tayback M, et al. A polymorphism of a platelet glycoprotein receptor as an inherited risk factor for coronary thrombosis [see comment]. New England Journal of Medicine. 1996;334:1090–1094
  173. Meisel C, Lopez JA, Stangl K. Role of platelet glycoprotein polymorphisms in cardiovascular diseases. Naunyn-Schmiedebergs Archives of Pharmacology. 2004;369:38–54
  174. Cadroy Y, Sakariassen KS, Charlet JP, et al. Role of 4 platelet membrane glycoprotein polymorphisms on experimental arterial thrombus formation in men. Blood. 2001;98:3159–3161
  175. Zhu MM, Weedon J, Clark LT. Meta-analysis of the association of platelet glycoprotein IIIa PlA1/A2 polymorphism with myocardial infarction. American Journal of Cardiology. 2000;86:1000–1005
  176. Ye Z, Liu EH, Higgins JP, et al. Seven haemostatic gene polymorphisms in coronary disease: meta-analysis of 66,155 cases and 91,307 controls.[see comment]. Lancet. 2006;367:651–658
  177. Morgan TM, Krumholz HM, Lifton RP, Spertus JA. Nonvalidation of reported genetic risk factors for acute coronary syndrome in a large-scale replication study. JAMA. 2007;297:1551–1561
  178. Newman PJ, Derbes RS, Aster RH. The human platelet alloantigens, PlA1 and PlA2, are associated with a leucine33/proline33 amino acid polymorphism in membrane glycoprotein IIIa, and are distinguishable by DNA typing. Journal of Clinical Investigation. 1989;83:1778–1781
  179. Feng D, Lindpaintner K, Larson MG, et al. Increased platelet aggregability associated with platelet GPIIIa PlA2 polymorphism: the Framingham Offspring Study. Arteriosclerosis, Thrombosis & Vascular Biology. 1999;19:1142–1147
  180. Michelson AD, Furman MI, Goldschmidt-Clermont P, et al. Platelet GP IIIa Pl(A) polymorphisms display different sensitivities to agonists [see comment]. Circulation. 2000;101:1013–1018
  181. Andrioli G, Minuz P, Solero P, et al. Defective platelet response to arachidonic acid and thromboxane A(2) in subjects with Pl(A2) polymorphism of beta(3) subunit (glycoprotein IIIa). British Journal of Haematology. 2000;110:911–918
  182. Lasne D, Krenn M, Pingault V, et al. Interdonor variability of platelet response to thrombin receptor activation: influence of PlA2 polymorphism. British Journal of Haematology. 1997;99:801–807
  183. Bennett JS, Catella-Lawson F, Rut AR, et al. Effect of the Pl(A2) alloantigen on the function of beta(3)-integrins in platelets. Blood. 2001;97:3093–3099
  184. Meiklejohn DJ, Urbaniak SJ, Greaves M. Platelet glycoprotein IIIa polymorphism HPA 1b (PlA2): no association with platelet fibrinogen binding. British Journal of Haematology. 1999;105:664–666
  185. Sajid M, Vijayan KV, Souza S, Bray PF. PlA polymorphism of integrin beta 3 differentially modulates cellular migration on extracellular matrix proteins. Arteriosclerosis, Thrombosis & Vascular Biology. 2002;22:1984–1989
  186. Vijayan KV, Goldschmidt-Clermont PJ, Roos C, Bray PF. The Pl(A2) polymorphism of integrin beta(3) enhances outside-in signaling and adhesive functions [see comment]. Journal of Clinical Investigation. 2000;105:793–802
  187. Vijayan KV, Bray PF. Molecular mechanisms of prothrombotic risk due to genetic variations in platelet genes: Enhanced outside-in signaling through the Pro33 variant of integrin beta3. Experimental Biology & Medicine. 2006;231:505–513
  188. Vijayan KV, Liu Y, Dong JF, Bray PF. Enhanced activation of mitogen-activated protein kinase and myosin light chain kinase by the Pro33 polymorphism of integrin beta 3. Journal of Biological Chemistry. 2003;278:3860–3867
  189. Vijayan KV, Liu Y, Sun W, Ito M, Bray PF. The Pro33 isoform of integrin beta3 enhances outside-in signaling in human platelets by regulating the activation of serine/threonine phosphatases. Journal of Biological Chemistry. 2005;280:21756–21762
  190. Xiao T, Takagi J, Coller BS, Wang JH, Springer TA. Structural basis for allostery in integrins and binding to fibrinogen-mimetic therapeutics [see comment]. Nature. 2004;432:59–67
  191. Burr D, Doss H, Cooke GE. Goldschmidt-Clermont PJ,A meta-analysis of studies on the association of the platelet PlA polymorphism of glycoprotein IIIa and risk of coronary heart disease. Statistics in Medicine. 2003;22:1741–1760
  192. Bojesen SE, Juul K, Schnohr P, et al. Platelet glycoprotein IIb/IIIa Pl(A2)/Pl(A2) homozygosity associated with risk of ischemic cardiovascular disease and myocardial infarction in young men: the Copenhagen City Heart Study. Journal of the American College of Cardiology. 2003;42:661–667
  193. Lopez JA, Ludwig EH, McCarthy BJ. Polymorphism of human glycoprotein Ib alpha results from a variable number of tandem repeats of a 13-amino acid sequence in the mucin-like macroglycopeptide region. Structure/function implications. Journal of Biological Chemistry. 1992;267:10055–10061
  194. Murata M, Furihata K, Ishida F, et al. Genetic and structural characterization of an amino acid dimorphism in glycoprotein Ib alpha involved in platelet transfusion refractoriness. Blood. 1992;79:3086–3090
  195. Li CQ, Garner SF, Davies J, et al. Threonine-145/methionine-145 variants of baculovirus produced recombinant ligand binding domain of GPIbalpha express HPA-2 epitopes and show equal binding of von Willebrand factor. Blood. 2000;95:205–211
  196. Ulrichts H, Vanhoorelbeke K, Cauwenberghs S, et al. von Willebrand factor but not alpha-thrombin binding to platelet glycoprotein Ibalpha is influenced by the HPA-2 polymorphism. Arteriosclerosis, Thrombosis & Vascular Biology. 2003;23:1302–1307
  197. Boncler MA, Golanski J, Paczuski R, Watala C. Polymorphisms of glycoprotein Ib affect the inhibition by aurintricarboxylic acid of the von Willebrand factor dependent platelet aggregation. Journal of Molecular Medicine. 2002;80:796–801
  198. Gonzalez-Conejero R, Lozano ML, Rivera J, et al. Polymorphisms of platelet membrane glycoprotein Ib associated with arterial thrombotic disease. Blood. 1998;92:2771–2776
  199. Matsubara Y, Murata M, Hayashi T, et al. Platelet glycoprotein Ib alpha polymorphisms affect the interaction with von Willebrand factor under flow conditions. British Journal of Haematology. 2005;128:533–539
  200. Kritzik M, Savage B, Nugent DJ, et al. Nucleotide polymorphisms in the alpha2 gene define multiple alleles that are associated with differences in platelet alpha2 beta1 density [see comment]. Blood. 1998;92:2382–2388
  201. Jacquelin B, Tarantino MD, Kritzik M, et al. Allele-dependent transcriptional regulation of the human integrin alpha2 gene. Blood. 2001;97:1721–1726
  202. Jacquelin B, Rozenshteyn D, Kanaji S, et al. Characterization of Inherited Differences in Transcription of the Human Integrin alpha 2 Gene. Journal of Biological Chemistry. 2001;276:23518–23524
  203. Santoso S, Kalb R, Walka M, et al. The human platelet alloantigens Br(a) and Brb are associated with a single amino acid polymorphism on glycoprotein Ia (integrin subunit alpha 2). Journal of Clinical Investigation. 1993;92:2427–2432
  204. Santoso S, Amrhein J, Hofmann HA, et al. A point mutation Thr(799)Met on the alpha(2) integrin leads to the formation of new human platelet alloantigen Sit(a) and affects collagen-induced aggregation. Blood. 1999;94:4103–4111
  205. Kunicki TJ. The influence of platelet collagen receptor polymorphisms in hemostasis and thrombotic disease. Arteriosclerosis. Thrombosis & Vascular Biology. 2002;22:14–20
  206. Croft SA, Samani NJ, Teare MD, et al. Novel platelet membrane glycoprotein VI dimorphism is a risk factor for myocardial infarction [see comment]. Circulation. 2001;104:1459–1463
  207. Best D, Senis YA, Jarvis GE, et al. GPVI levels in platelets: relationship to platelet function at high shear. Blood. 2003;102:2811–2818
  208. Joutsi-Korhonen L, Smethurst PA, Rankin A, et al. The low-frequency allele of the platelet collagen signaling receptor glycoprotein VI is associated with reduced functional responses and expression. Blood. 2003;101:4372–4379
  209. Furihata K, Clemetson KJ, Deguchi H, Kunicki TJ. Variation in human platelet glycoprotein VI content modulates glycoprotein VI-specific prothrombinase activity. Arteriosclerosis, Thrombosis & Vascular Biology. 2001;21:1857–1863

PII: S0268-960X(07)00071-9

doi: 10.1016/j.blre.2007.11.002

Blood Reviews
Volume 22, Issue 3 , Pages 155-172 , May 2008

Article Tools

* Image Usage & Resolution