Inherited disorders of platelet function

Platelets

Volumn , Issue , 2007, Pages 1029-1050

  Nurden, Alan T ^a   Nurden, Paquita ^a  

^a HAUT LÉVÊQUE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84884781566     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-012369367-9/50819-3     Document Type: Chapter

References (159)

1. Nurden A.T., George J.N. Inherited abnormalities of the platelet membrane: Glanzmann thrombasthenia, Bernard-Soulier syndrome, and other disorders. Hemostasis and thrombosis, basic principles and clinical practice 2005, Lippincott, Williams & Wilkins, Philadelphia. 5th ed. R.W. Colman, V.J. Marder, A.W. Clowes, J.N. George, S.Z. Goldhaber (Eds.).
2. Lopez J.A., Andrews R.K., Afshar-Kharghan V., et al. Bernard-Soulier syndrome. Blood 1998, 91:4397-4418.
3. Nurden A.T., Caen J.P. Specific roles for platelet surface glycoproteins in platelet function. Nature 1975, 255:720-722.
4. Nurden P., Nurden A.T. Giant platelets, megakaryocytes and the expression of glycoprotein Ib-IX complexes. C R Acad Sci Paris 1996, 319:717-726.
5. Tomer A., Scharf R.E., McMillan R., et al. Bernard-Soulier syndrome: Quantitative characterization of megakaryocytes and platelets by flow cytometric and platelet kinetic measurements. Eur J Haematol 1994, 52:193-200.
6. Cruz M.A., Chen J., Whitelock J.L., et al. The platelet glycoprotein Ib-von Willebrand factor interaction activates the collagen receptor α2β1 to bind collagen: Activation-dependent conformational change of the α2-I domain. Blood 2005, 105:1986-1991.
7. Uff S., Clemetson J.M., Harrison T., et al. Crystal structure of the platelet glycoprotein Ibα N-terminal domain reveals an unmasking mechanism for receptor activation. J Biol Chem 2002, 277:35657-35663.
8. Celikel R., McClintock R.A., Roberts J.R., et al. Modulation of α-thrombin function by distinct interactions with platelet glycoprotein Ibα. Science 2003, 301:218-221.
9. Kahn M.L., Zheng Y-W., Huang W., et al. A dual thrombin receptor system for platelet activation. Nature 1998, 394:690-694.
10. McNichol A., Sutherland M., Zou R., et al. Defective thrombin-induced calcium changes and aggregation of Bernard-Soulier platelets are not associated with deficient moderate-affinity receptors. Arterioscler Thromb Vasc Biol 1996, 16:628-632.
11. Baglia F.A., Shrimpton C.N., Emsley J., et al. Factor XI interacts with the leucine-rich repeats of glycoprotein Ibα on the activated platelet. J Biol Chem 2004, 279:49323-49329.
12. Beguin S., Keularts I., Al Dieri R., et al. Fibrin polymerization is crucial for thrombin generation in plateletrich plasma in a VWF-GPIb-dependent process, defective in Bernard-Soulier syndrome. J Thromb Haemost 2004, 2:170-176.
13. Yagi M., Edelhoff S., Disteche C.M., et al. Structural characterization and chromosomal localization of the gene encoding human platelet glycoprotein Ibβ. J Biol Chem 1994, 269:17424-17427.
14. Michelson A.D. Flow cytometry: A clinical test of platelet function. Blood 1996, 87:4925-4936.
15. Lanza F. Hemorrhagipous thrombocytic dystrophy. Orphanet Encyclopedia 2003, http://www.orpha.net.
16. Simsek S., Admiraal L.G., Modderman P.W., et al. Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ibα causing Bernard-Soulier syndrome. Thromb Haemost 1994, 72:444-449.
17. Kunishima S., Miura H., Fukutani H., et al. Bernard-Soulier syndrome Kagoshima: Ser444 → stop mutation of glycoprotein (GP) Ibα resulting in circulating truncated GP Ibα and surface expression of GPIbβ and GPIX. Blood 1994, 84:3356-3362.
18. Simsek S., Noris P., Lozano M., et al. Cys209Ser mutation in the platelet membrane glycoprotein Ibα gene is associated with Bernard-Soulier syndrome. Br J Haematol 1994, 88:839-844.
19. Sae-Tung G., Dong J.F., Lopez J.A. Biosynthetic defect in platelet glycoprotein IX mutants associated with Bernard-Soulier syndrome. Blood 1996, 87:1361-1367.
20. Li C.Q., Dong J-F., Lanza F., et al. Expression of platelet glycoprotein (GP) V in heterologous cells and evidence for its association with GP Ibα in forming a GP Ib-IX-V complex on the cell surface. J Biol Chem 1995, 270:16302-16307.
21. Budarf M.L., Konkle B.A., Ludlow L.B., et al. Identification of a patient with a Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardial facial chromosomal region in 22q11.2. Hum Mol Genet 1995, 4:763-766.
22. Ludlow L.B., Schick B.P., Budarf M.L., et al. Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibβ promoter resulting in the Bernard-Soulier syndrome. J Biol Chem 1996, 271:22076-22080.
23. Strassel C., Pasquet J-M., Alessi M-C., et al. A novel missense mutation shows that GPIbβ has a dual role in controlling the processing and stability of the platelet GPIb-IX adhesion receptor. Biochemistry 2003, 42:4452-4462.
24. Moran N., Morateck P.A., Deering A., et al. The surface expression of glycoprotein Ibα is dependent on glycoprotein Ibβ: Evidence from a novel mutation causing Bernard-Soulier syndrome. Blood 2000, 96:532-569.
25. 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 Ibβ gene. Blood Coagul Fibrinolysis 2003, 14:1-8.
26. Wright S.D., Michaelides K., Johnson D.J.D., et al. Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. Blood 1993, 81:2339-2347.
27. Sachs U.J.H., Kroll H., Matzdorff A.C., et al. Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: An unexpected, frequent finding in Germany. Br J Haematol 2003, 123:127-131.
28. Lanza F., De La Salle C., Baas M-J., 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. Ware J., Russell S.R., Marchese P., et al. Point mutation in a leucine-rich repeat of platelet glycoprotein Ibα resulting in the Bernard-Soulier syndrome. J Clin Invest 1993, 92:1213-1220.
30. Miller J.L., Lyle V.A., Cunningham D. Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ibα leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease. Blood 1992, 79:439-446.
31. Ulsemer P., Lanza F., Baas M.J., et al. Role of the leucine-rich domain of platelet GP Ibα in correct posttranslational processing -the Nancy I Bernard-Soulier mutation expressed on CHO cells. Thromb Haemost 2000, 84:104-111.
32. Li C., Martin S.E., Roth G.J. The genetic defect in two well-studied cases of Bernard-Soulier syndrome: A point mutation in the fifth leucine-rich repeat of platelet glycoprotein Ibα. Blood 1995, 86:3805-3814.
33. Dumas J.J., Kumar R., McDonagh T., et al. Crystal structure of the wild-type von Willebrand factor A1-glycoprotein Ibα complex reveals conformation differences with a complex bearing von Willebrand disease mutations. J Biol Chem 2004, 279:23327-23334.
34. Holmberg L., Karpman D., Nilsson I., et al. Bernard-Soulier syndrome Karlstrad: Trp 498 > Stop mutation resulting in a truncated glycoprotein Ibα that contains part of the transmembranous domain. Br J Haematol 1997, 98:57-63.
35. Ware J., Russell S., Ruggeri Z.M. Generation and rescue of a murine model of platelet dysfunction: The Bernard-Soulier syndrome. Proc Natl Acad Sci USA 2000, 97:2803-2808.
36. Poujol C., Ware J., Nieswandt B., et al. Absence of GPIbα is responsible for aberrant membrane development during megakaryocyte maturation: Ultrastructural study using a transgenic model. Exp Hematol 2002, 30:352-360.
37. Kanaji T., Russell S., Cunningham J., et al. Megakaryocyte proliferation and ploidy regulated by the cytoplasmic tail of GPIbα. Blood 2004, 104:3161-3168.
38. Kahn M.L., Diacove T.G., Bainton D.F., et al. Glycoprotein V-deficient platelets have undiminished thrombin responsiveness and do not exhibit a Bernard-Soulier phenotype. Blood 1999, 94:4112-4121.
39. Kato K., Martinez C., Russell S., et al. Genetic deletion of mouse platelet glycoprotein Ibβ produces a Bernard-Soulier phenotype with increased α-granule size. Blood 2004, 104:2339-2344.
40. Othman M., Notley C., Lavender F.L., et al. Identifi cation and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIbα gene resulting in platelet-type von Willebrand disease. Blood 2005, 105:4330-4336.
41. Savoia A., Balduini C.L., Savino M., et al. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood 2001, 97:1330-1335.
42. Balduini C., Cattaneo M., Fabris F., et al. Italian Gruppo di Studio delle Piastrine. Inherited thrombocytopenias: A proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine. Haematologica 2003, 88:582-592.
43. The May-Hegglin/Fechtner syndrome consortium. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. Nature Genetics 2000, 26:103-105.
44. Kelley M.J., Jawien W., Ortel T.L., et al. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nature Genetics 2000, 26:106-108.
45. Frannke J.D., Dong F., Rickoll W.L., et al. Rod mutations associated with MYH9-related disorders disrupt non-muscle myosin-IIA assembly. Blood 2005, 105:161-169.
46. Toren A., Rozenfeld-Granot G., Heath K.E., et al. MYH9 spectrum of autosomal-dominant giant platelet syndromes: Unexpected association with fibulin-1 variant-D inactivation. Am J Hematol 2003, 74:254-262.
47. Lemmink H.H., Schroder C.H., Monnens L.A., et al. The clinical spectrum of type IV collagen mutations. Hum Mutat 1997, 9:477-499.
48. Hughan S.C., Senis Y., Best D., et al. Selective impairment of platelet activation, to collagen in the absence of GATA1. Blood 2005, 105:4369-4376.
49. Sun L., Mao G., Rao A.K. Association of CBFA2 mutation with decreased platelet PKCθ and impaired receptor-mediated activation of GPIIb-IIIa and plekstrin phosphorylation: Proteins regulated by CBFA2 play a role in GPIIb-IIIa activation. Blood 2004, 103:948-954.
50. Nieuwenhuis H.K., Sakariassen K.S., Houdijk W.P.M., et al. Deficiency of platelet membrane glycoprotein Ia associated with a decreased platelet adhesion to subendothelium: A defect in platelet spreading. Blood 1986, 68:692-695.
51. Kunicki T.J., Federici A.B., Salomon D.R., et al. An association of candidate gene haplotypes and bleeding severity in von Willebrand disease (VWD) type 1 pedigrees. Blood 2004, 104:2539-2567.
52. Moroi M., Jung S.M., Okuma M., et al. A patient with platelets deficient in glycoprotein VI that lack both collagen-induced aggregation and adhesion. J Clin Invest 1989, 84:1440-1445.
53. Jandrot-Perrus M., Susfield S., Lagrue A-H., et al. Cloning, characterization, and functional studies of human and mouse glycoprotein VI: A platelet-specific collagen receptor from the immunoglobulin superfamily. Blood 2000, 96:1798-1807.
54. Boylan B., Chen H., Rathore V., et al. Anti-GPVIassociated ITP: An acquired platelet disorder caused by autoantibody-mediated clearance of the GPVI/FcRγ-chain complex from the human platelet surface. Blood 2004, 104:1350-1355.
55. Niesswandt B., Brakebusch C., Bergmeier W., et al. Glycoprotein VI but not α2β1 integrin is essential for platelet interaction with collagen. EMBO J 2001, 20:2120-2130.
56. Massberg S., Gawaz M., Gruner S., et al. A crucial role of glycoprotein VI for platelet recruitment to the injured arterial wall. in vivo. J Exp Med 2003, 197:41-49.
57. Hechler B., Cattaneo M., Gachet C. The P2receptors in platelet function. Semin Thromb Hemost 2005, 31:150-161.
58. Hollopeter G., Jantzen H-M., Vincent D., et al. Molecular identification of the platelet receptor targeted by antithrombotic drugs. Nature 2001, 409:202-207.
59. Nurden P., Savi P., Heilmann E., et al. An inherited bleeding disorder linked to a defective interaction between ADP and its receptor on platelets. J Clin Invest 1995, 95:1612-1622.
60. Cattaneo M. Inherited platelet-based bleeding disorders. J Thromb Haemost 2003, 1:1628-1636.
61. Cattaneo M., Zighetti M.L., Lombardi R., et al. Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding. Proc Natl Acad Sci USA 2003, 100:1978-1983.
62. Remijn J.A., Wu Y.P., Jeninga E.H., et al. Role of ADP receptor P2Y (12) in platelet adhesion and thrombus formation in flowing blood. Arterioscler Thromb Vasc Biol 2002, 22:686-691.
63. Fabre J.E., Nguyen M., Latour A., et al. Decreased platelet aggregation, increased bleeding time and resistance to thromboembolism in P2Y1-deficient mice. Nat Med 1999, 5:1199-1202.
64. Oury C., Toth-Zsamboki E., Van Geet G., et al. A natural dominant negative P2X1 receptor due to deletion of a single amino acid residue. J Biol Chem 2000, 275:22611-22614.
65. Cattaneo M., Lombardi R., Zighetti M.L., et al. Deficiency of (33P) 2MeS-ADP binding sites on platelets with secretion defect, normal granule stores and normal thromboxane A2 production. Evidence that ADP potentiates platelet secretion independently of the formation of large platelet aggregates and thromboxane A2 production. Thromb Haemost 1997, 77:986-990.
66. Hirata T., Ushikubi F., Kakizuka A., et al. Two thromboxane A2 receptor isoforms in human platelets. Opposite coupling to adenylate cyclase with different sensitivity to Arg60 to Leu mutation. J Clin Invest 1996, 97:949-956.
67. Rao A.K. Inherited defects in platelet signaling mechanisms. J Thromb Haemost 2003, 1:671-681.
68. Mao G.F., Vaidyula V.R., Kunapuli S.P., et al. Lineage-specific defect in gene expression in human platelet phospholipase Cβ2 deficiency. Blood 2002, 99:905-911.
69. Gabbeta J., Yang X., Kowalska M.A., et al. Platelet signal transduction defect with Gα subunit dysfunction and diminished Gαq in a patient with abnormal platelet responses. Proc Natl Acad Sci USA 1997, 94:8750-8755.
70. Yang X., Sun L., Gabbeta J., et al. Human platelet signaling defect characterized by impaired production of 1,4,5 inositoltriphosphate and phosphatidic acid, and diminished plekstrin phosphorylation. Evidence for defective phospholipase C activation. Blood 1996, 88:1676-1683.
71. Watanabe N., Nakajima H., Suzuki H., et al. Functional phenotype of phosphoinositide 3-kinase p85α-null platelets characterized by an impaired response to GPVI stimulation. Blood 2003, 102:541-548.
72. Woulfe D., Jiang H., Morgans A., et al. Defects in secretion, aggregation and thrombus formation in platelets from mice lacking Akt2. J Clin Invest 2004, 113:441-450.
73. Moers A., Nieswandt B., Massberg S., et al. G13 is an essential mediator of platelet activation in hemostasis and thrombosis. Nat Med 2003, 9:1418-1422.
74. Patel Y.M., Patel K., Rahman S., et al. Evidence for a role for Gαi in mediating weak agonist-induced platelet aggregation in human platelets: Reduced Gαi1 expression and defective Gi signaling in the platelets of a patient with a chronic bleeding disorder. Blood 2003, 101:4828-4835.
75. Massberg S., Gruner S., Konrad I., et al. Enhanced in vivo platelet adhesion in vasodilator-stimulated phosphoprotein (VASP) -deficient mice. Blood 2004, 103:136-142.
76. Anitua E., Andia I., Ardanza B., et al. Autologous platelets as a source of proteins for healing and tissue regeneration. Thromb Haemost 2004, 91:4-15.
77. Washington A.V., Schubert R.L., Quigley L., et al. A TREM family member, TLT-1, is found exclusively in the α-granules of megakaryocytes and platelets. Blood 2004, 104:1042-1047.
78. Hayward C.P.M. Inherited disorders of platelet α-granules. Platelets 1997, 8:197-209.
79. Nurden P., Jandrot-Perrus M., Combrié R., et al. Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome. Blood 2004, 104:107-114.
80. Gebrane-Younes J., Cramer E.M., Orcel L., et al. Gray platelet syndrome: Dissociation between abnormal sorting in megakaryocyte α-granules and normal sorting in Weibel-Palade bodies of endothelial cells. J Clin Invest 1993, 92:3023-3028.
81. Centurione L., Di Baldassarre A., Zingariello M., et al. Increased and pathologioc emperipolesis of neutrophils within megakaryocytes associated with marrow fibrosis in GATA-1low mice. Blood 2004, 104:3573-3580.
82. Lemons P.P., Chen D., Whiteheart S.W. Molecular mechanisms of platelet exocytosis: Requirements for α-granule release. Biochem Biophys Res Commun 2000, 267:875-880.
83. Gissen P., Johnson C.A., Morgan N.V., et al. Mutations in VPS33B, encoding a regulator of SNAREdependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nature Genetics 2004, 36:400-404.
84. Kahr W.H., Zheng S., Sheth P.M., 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.
85. Sheth P.M., Kahr W.H., Haq M.A., et al. Intracellular activation of the fibrinolytic cascade in the Quebec platelet disorder. Thromb Haemost 2003, 90:293-298.
86. Nieuwenhuis H.K., Akkerman J.W., Sixma J.J. Patients with a prolonged bleeding time and normal aggregation tests may have storage pool deficiency: Studies on 106 patients. Blood 1987, 70:620-623.
87. Weiss H.J., Lages B., Vicic W., et al. Heterogeneous abnormalities of platelet dense granule ultrastructure in 20 patients with congenital storage pool deficiency. Br J Haematol 1993, 83:282-295.
88. Burns S., Cory G.O., Vainchenker W., et al. Mechanism of WASp-mediated hematologic and immunologic disease. Blood 2004, 104:3454-3462.
89. Imai K., Morio T., Jin Y., et al. Clinical course of patients with WASP gene mutations. Blood 2004, 103:456-464.
90. Higgs J.N., Pollard T.D. Activation by Cdc42 and PIP2 of Wiskott-Aldrich syndrome protein (WASP) stimulates actin nucleation by Arp2/3 complex. J Cell Biol 2000, 150:1311-1320.
91. Wada T., Schurman S.H., Jagadeesh J., et al. Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family. Blood 2004, 104:1270-1272.
92. Gunay-Aygun M., Huizing M., Gahl W.A. Molecular defects that effect platelet dense granules. Semin Thromb Haemost 2004, 30:537-547.
93. 3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatric Res 2002, 51:150-158.
94. Nazarian R., Falcon-Perez J.M., Dell'Angelica E.C. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): A complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proc Natl Acad Sci USA 2003, 100:8770-8775.
95. Li W., Zhang Q., Oiso N., et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) . Nat Genet 2003, 35:84-89.
96. Karim M.A., Suzuki K., Fukai K., et al. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet 2002, 108:16-22.
97. Ward D.M., Shiflett S.L., Kaplan J. Chediak-Higashi syndrome: A clinical and molecular view of a rare lysosomal storage disorder. Curr Mol Med 2002, 2:469-477.
98. Ménasche G., Feldmann J., Houdusse A., et al. Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. Blood 2003, 101:2736-2742.
99. George J.N., Caen J-P., Nurden A.T. Glanzmann's thrombasthenia: The spectrum of clinical disease. Blood 1990, 75:1383-1395.
100. Wagner D.D., Burger P.C. Platelets in inflammation and thrombosis. Arterioscler Thromb Vasc Biol 2003, 23:2131-2137.
101. Patel D., Vaananen H., Jirouskova M., et al. Dynamics of GPIIb/IIIa-mediated platelet-platelet interactions in platelet adhesion/thrombus formation on collagen in vitro as revealed by videomicroscopy. Blood 2003, 101:929-936.
102. Shattil S.J., Kashiwagi H., Pampori N. Integrin signaling: The platelet paradigm. Blood 1998, 91:2645-2657.
103. 3. Thromb Haemost 1997, 89:4385-4392.
104. 3 binds prothrombin and influences its activation. J Biol Chem 1997, 272:27183-27188.
105. 3 deficiency to endothelial cell matrix and collagen under conditions of flow via tissue factor-independent thrombin generation. Blood 2003, 101:1864-1870.
106. Xiao T., Takagi J., Wang J-H., et al. Structural basis for allostery in integrins and binding to fibrinogenmimetic therapeutics. Nature 2004, 432:59-67.
107. French D.L. The molecular genetics of Glanzmann's thrombasthenia. Platelets 1998, 9:5-20.
108. Bray P. Inherited diseases of platelet glycoproteins: Considerations for rapid molecular diagnosis. Thromb Haemostas 1994, 72:492-502.
109. Newman P.J., Seligsohn U., Lyman S., et al. The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. Proc Natl Acad Sci USA 1991, 88:3160-3164.
110. IIb gene. Blood 1995, 86:977-982.
111. 3. Biochem J 2004, 379:449-459.
112. 3 biogenesis. Blood 2003, 101:2268-2276.
113. IIbGlu324 commonly mutated in Glanzmann thrombasthenia. Thromb Haemost 2002, 88:655-662.
114. Arias-Salgado E.G., Butta N., Gonzalez-Manchon C., et al. Competition between normal (674C) and mutant (674) GPIIb subunits: The role of the molecular chaperone BiP in the processing of GPIIb-IIIa complexes. Blood 2001, 97:2640-2647.
115. Gonzalez-Manchon C., Arias-Salgado E.G., Butta N., et al. A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsensemediated decay of GPIIb-mRNA, and type II Glanzmann's thrombasthenia. J Thromb Haemost 2003, 1:1071-1078.
116. Springer T.A. Folding of the N-terminal, ligandbinding region of integrin α-subunits into a β-propeller domain. Proc Natl Acad Sci USA 1997, 94:65-72.
117. Rosenberg N., Yatuv R., Sobolev V., et al. Major mutations in calf-1 and calf-2 domains of glycoprotein IIb in patients with Glanzmann thrombasthenia enable GPIIb/IIIa complex formation, but impair its transport from the endoplasmic reticulum to the Golgi apparatus. Blood 2003, 101:4808-4815.
118. Jin Y., Dietz H.C., Montgomery R.A., et al. Glanzmann thrombasthenia: Cooperation between sequence variants in Cis during splice selection. J Clin Invest 1996, 98:1745-1754.
119. 3 maturation and result in Glanzmann thrombasthenia. Thromb Haemost 2002, 88:104-110.
120. 3 activation. J Biol Chem 2001, 276:38268-38365.
121. 3. Thromb Haemost 2002, 88:503-509.
122. 3 and αvβ3. Blood 2002, 99:931-938.
123. 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformation. Science 1990, 249:915-918.
124. 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann's thrombasthenia. Proc Natl Acad Sci USA 1992, 89:10169-10173.
125. 3 (platelet glycoprotein IIb-IIIa) . Blood 1994, 84:1857-1865.
126. 3 complex. J Clin Invest 1997, 100:2393-2403.
127. IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome. Blood 1998, 92:4178-4187.
128. Hughes P.E., Diaz-Gonzalez F., Leong L., et al. Breaking the integrin hinge: A defined structural constraint regulates integrin signaling. J Biol Chem 1996, 271:6571-6574.
129. 3. J Biol Chem 1996, 271:30233-30241.
130. Shattil S.J., Newman P.J. Integrins: Dynamic scaffolds for adhesion and signaling in platelets. Blood 2004, 104:1606-1615.
131. 3 integrins. J Clin Invest 2003, 111:51-60.
132. 3 and αvβ3. Blood 1999, 93:2559-2568.
133. 3) integrin receptor locked in a high affinity state and a Glanzmann thrombasthenia-like phenotype. Blood 2001, 98:2432-2441.
134. 3 (glycoprotein IIb-IIIa) . Blood 1993, 82:135-138.
135. Nurden P., Poujol C., Durrieu-Jais C., et al. Labeling of the internal pool of GP IIb-IIIa in platelets by c7E3 Fab fragments (abciximab, ReoPro): Flow and endocytic mechanisms contribute to the transport. Blood 1999, 93:1622-1633.
136. Pelkman L., Fava E., Grabner H., et al. Genomewide analysis of human kinases in clathrin-and caveolae/ raft-mediated endocytosis. Nature 2005, 436:78-86.
137. 3 integrin and the platelet granule pool of fibrinogen. Br J Haematol 2002, 118:1143-1151.
138. 3 complex that binds fibrin but not fibrinogen. Blood 2000, 96:161-169.
139. Poujol C., Nurden A.T., Nurden P. Ultrastructural analysis of the distribution of the vitronectin receptor (αvβ3) in human platelets and megakaryocytes reveals an intracellular pool and labelling of the α-granule membrane. Br J Haematol 1997, 96:823-835.
140. Horton M.A., Massey H.M., Rosenberg N., et al. Upregulation of osteoclast α2β1 integrin compensates for lack of αvβ3 vitronectin receptor in Iraqi-Jewish-type Glanzmann thrombasthenia. Br J Haematol 2003, 122:950-957.
141. Ruan J., Peyruchaud O., Nurden P., et al. Family screening for a Glanzmann's thrombasthenia mutation using PCR-SSCP. Platelets 1998, 9:129-136.
142. Peretz H., Seligsohn U., Zwang E., et al. Detection of the Glanzmann's thrombasthenia mutations in Arab and Iraqi-Jewish patients by polymerase chain reaction and restriction analysis of blood and urine samples. Thromb Haemost 1991, 616:500-504.
143. French D., Coller B.S., Usher S., et al. Prenatal diagnosis of Glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRAI on chromosome 17. Br J Haematol 1998, 102:582-587.
144. IIb gene: Demonstration that transcriptional activation at this megakaryocytic locus precedes lineage commitment. Blood 2000, 96:1399-1408.
145. 3-integrin-deficient mice is associated with enhanced TGFβ1 signaling. Nature Med 2005, 11:167-174.
146. 3-integrins are osteosclerotic because of dysfunctional osteoclasts. J Clin Invest 2000, 105:433-440.
147. 3-integrindefi cient mice. Cancer Res 2004, 64:8643-8650.
148. Law D.A., DeGuzman F.R., Heiser P., et al. Integrin cytoplasmic tyrosine motif is required for outside-in signalling and platelet function. Nature 1999, 401:808-811.
149. Zwaal R.F.A., Comfurius P., Schroit A.J. Scott syndrome, a bleeding disorder caused by defective scrambling of membrane phospholipids. Biochim Biophys Acta 1997, 1636:119-128.
150. Dachary-Prigent J., Pasquet J.M., Fressinaud E., et al. Aminophospholipid exposure, microvesiculation and abnormal protein tyrosine phosphorylation in the platelets of a patient with Scott syndrome: A study using physiologic agonists and local anaesthetics. Br J Haematol 1997, 99:959-967.
151. Zhou Q., Sims P.J., Wiedmer T. Expression of proteins controlling transbilayer movement of plasma membrane phospholipids in the B lymphocytes from a patient with Scott syndrome. Blood 1998, 92:1707-1712.
152. 2+ entry in the regulation of phospatidylserine expression at the surface of stimulated cells. Biochemistry 1999, 38:10092-10098.
153. Albrecht C., McVey J.H., Elliott J.I., et al. A novel missense mutation in ABCA1 results in altered protein traf-ficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. Blood 2005, 106:542-549.
154. Michelson A.D. Platelet function disorders. Pediatric hematology 2006, Blackwell, Oxford. 3rd ed. I. Hann, R. Arceci, O. Smith (Eds.).
155. Haddad E., Le Deist F., Blanche S., et al. Treatment of Chediak-Higashi syndrome by allogenic bone marrow transplantation: Report of 10 cases. Blood 1995, 85:3328-3333.
156. Filipovich A.H., Stone J.V., Tomany S.C., et al. Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: Collaborative study of the International Bone Marrow Transplant Registry and the National Marrow Donor Program. Blood 2001, 97:1598-1603.
157. Bellucci S., Damaj G., Boval B., et al. Bone marrow tranplantation in severe Glanzmann's thrombasthenia with antiplatelet alloimmunization. Bone Marrow Transplant 2000, 25:327-330.
158. D'Andrea G., Colaizzo D., Vecchione G., et al. Glanzmann's thrombasthenia: Identification of 19 new mutations in 30 patients. Thromb Haemost 2002, 87:1034-1042.
159. Nair S., Ghosh K., Shetty S., et al. Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients. J Thromb Haemost 2005, 3:482-488.