|
1) Thon JN, Italiano JE. Platelet formation. Semin Hematol. 2010; 47: 220-6
|
|
|
|
2) Fox JE. Cytoskeletal proteins and platelet signaling. Thromb Haemost. 2001; 86: 198-213
|
|
|
|
|
|
3) Kunishima S, Saito H. Congenital macro-thrombocytopenias. Blood reviews. 2006; 20: 111-21
|
|
|
|
|
|
4) Nurden P, Nurden AT. Congenital disorders associated with platelet dysfunctions. Thromb Haemost. 2008; 99: 253-63
|
|
|
|
|
|
5) Kunishima S, Kamiya T, Saito H. Genetic abnormalities of Bernard-Soulier syndrome. Int J Hematol. 2002; 76: 319-27
|
|
|
|
|
6) Berndt MC, Andrews RK. Bernard-Soulier syndrome. Haematologica. 2011; 96: 355-9
|
|
|
|
|
|
7) Kunishima S, Saito H. Advances in the understanding of MYH9 disorders. Curr Opin Hematol. 2010; 17: 405-10
|
|
|
|
|
|
8) Balduini CL, Pecci A, Savoia A. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol. 2011; 154: 161-74
|
|
|
|
|
|
9) Bennett JS, Berger BW, Billings PC. The structure and function of platelet integrins. J Thromb Haemost. 2009; 7 Suppl 1: 200-5
|
|
|
|
|
|
10) Nurden AT. Glanzmann thrombasthenia. Orphanet J Rare Dis. 2006; 1: 10
|
|
|
|
|
|
11) Franchini M, Favaloro EJ, Lippi G. Glanzmann thrombasthenia: an update. Clin Chim Acta. 2010; 411: 1-6
|
|
|
|
|
|
12) Ghevaert C, Salsmann A, Watkins NA, et al. A non-synonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the αIIbβ3 integrin and co-segregates dominantly with abnormal proplatelet formation and macrothrombocytopenia. Blood. 2008; 111: 3407-14
|
|
|
|
|
|
13) Schaffner-Reckinger E, Salsmann A, Debili N, et al. Overexpression of the partially activated αIIbβ3D723H integrin salt bridge mutant downregulates RhoA activity and induces microtubule-dependent proplatelet-like extensions in Chinese hamster ovary cells. J Thromb Haemost. 2009; 7: 1207-17
|
|
|
|
|
|
14) Hardisty R, Pidard D, Cox A, et al. A defect of platelet aggregation associated with an abnormal distribution of glycoprotein IIb-IIIa complexes within the platelet: the cause of a lifelong bleeding disorder. Blood. 1992; 80: 696-708
|
|
|
|
|
|
15) 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 Glanzmannʼs thrombasthenia-like syndrome. Blood. 1998; 92: 4178-87
|
|
|
|
|
|
16) Hughes PE, Diaz-Gonzalez F, Leong L, et al. Breaking the integrin hinge. A defined structural constraint regulates integrin signaling. J Biol Chem. 1996; 271: 6571-4
|
|
|
|
|
|
17) Lau TL, Kim C, Ginsberg MH, et al. The structure of the integrin αIIbβ3 transmembrane complex explains integrin transmembrane signalling. EMBO J. 2009; 28: 1351-61
|
|
|
|
|
|
18) Kunishima S, Kashiwagi H, Otsu M, et al. Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. Blood. 2011; 117: 5479-84
|
|
|
|
|
|
19) Gresele P, Falcinelli E, Giannini S, et al. Dominant inheritance of a novel integrin β3 mutation associated with a hereditary macro-thrombocytopenia and platelet dysfunction in two Italian families. Haematologica. 2009; 94: 663-9
|
|
|
|
|
|
20) Jayo A, Conde I, Lastres P, et al. L718P mutation in the membrane-proximal cytoplasmic tail of β3 promotes abnormal αIIbβ3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype. Haematologica. 2010; 95: 1158-66
|
|
|
|
|
|
21) Mor-Cohen R, Rosenberg N, Peretz H, et al. Disulfide bond disruption by a β3-Cys549Arg mutation in six Jordanian families with Glanzmann thrombasthenia causes diminished production of constitutively active αIIbβ3. Thromb Haemost. 2007; 98: 1257-65
|
|
|
|
|
|
22) 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 (αIIbβ3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia-like phenotype. Blood. 2001; 98: 2432-41
|
|
|
|
|
|
23) Federici AB, Mannucci PM, Castaman G, et al. Clinical and molecular predictors of thrombo-cytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients. Blood. 2009; 113: 526-34
|
|
|
|
|
|
24) Jackson SC, Sinclair GD, Cloutier S, et al. The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation. Blood. 2009; 113: 3348-51
|
|
|
|
|
|
25) Kunishima S, Matsushita T, Kojima T, et al. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest. 2003; 83: 115-22
|
|
|
|
|
|
26) Kunishima S, Kobayashi R, Itoh TJ, et al. Mutation of the β1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. Blood. 2009; 113: 458-61
|
|
|
|
|
|
27) Nurden AT, Nurden P. The gray platelet syndrome: clinical spectrum of the disease. Blood Rev. 2007; 21: 21-36
|
|
|
|
|
|
28) Favier R, Jondeau K, Boutard P, et al. Paris-Trousseau syndrome: clinical, hematological, molecular data of ten new cases. Thromb Haemost. 2003; 90: 893-7
|
|
|
|
|
|
29) Nichols KE, Crispino JD, Poncz M, et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet 2000; 24: 266-70
|
|
|
|
|