Inherited thrombocytopenias

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32. Topka S, Vijai J, Walsh MF, et al. Germline ETV6 mutations confer susceptibility to acute lymphoblastic leukemia and thrombocytopenia. PLOS Genet 2015;11:e1005262.

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35. Zhang MY, Churpek JE, Keel SB, et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet 2015;47:180–185.

36. Noetzli L, Lo RW, Lee-Sherick AB, et al. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet 2015;47:535–538.

37. Eisbacher M, Holmes ML, Newton A, et al. Protein-protein interaction between Fli-1 and GATA-1 mediates synergistic expression of megakaryocyte-specific genes through cooperative DNA binding. Mol Cell Biol 2003;23:3427–3441.

38. Raslova H, Komura E, Le Couédic JP, et al. FLI1 monoallelic expres-sion combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. J Clin Invest 2004;114:77–84.

39. Stockley J, Morgan NV, Bem D, et al. Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects. Blood 2013;122:4090–4093.

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44. Nichols KE, Crispino JD, Poncz M, et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet 2000;24:266–270.

45. Mehaffey MG, Newton AL, Gandhi MJ, Crossley M, Drachman JG. X-linked thrombocytopenia caused by a novel mutation of GATA-1. Blood 2001;98:2681–2688.

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47. Freson K, Devriendt K, Matthijs G, et al. Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. Blood 2001;98:85–92.

48. Campbell AE, Wilkinson-White L, Mackay JP, Matthews JM, Blobel GA. Analysis of disease-causing GATA1 mutations in murine gene complementation systems. Blood 2013;121:5218–5227.

49. Stevenson WS, Morel-Kopp M-C, Chen Q, et al. GFI1B muta-tion causes a bleeding disorder with abnormal platelet function. J Thromb Haemost 2013;11:2039–2047.

50. Kitamura K, Okuno Y, Yoshida K, et al. Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia. J Thromb Haemost 2016;14:1462–1469.

51. Monteferrario D, Bolar NA, Marneth AE, et al. A Dominant-negative GFI1B mutation in the gray platelet syndrome. N Engl J Med 2014;370:245–253.

52. Hamamy H, Makrythanasis P, Al-Allawi N, Muhsin AA, Antonarakis SE. Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYBgene: case report. BMC Med Genet 2014;15:135.

53. Levin C, Koren A, Pretorius E, et al. Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia. J Thromb Haemost 2015;13:1285–1292.

54. Turro E, Greene D, Wijgaerts A, et al. A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies. Sci Transl Med 2016;8:328ra30.

55. Bury L, Malara A, Gresele P, Balduini A. Outside-in signalling generated by a constitutively activated integrin αIIbβ3 impairs proplatelet formation in human megakaryocytes. PLoS One 2012;7:e34449.

56. Li R, Emsley J. The organizing principle of the platelet glycoprotein Ib-IX-V complex. J Thromb Haemost 2013;11:605–614.

57. Savoia A, Kunishima S, De Rocco D, et al. Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat 2014;35:1033–1045.

58. Balduini A, Malara A, Balduini CL, Noris P. Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets in vitro. Platelets 2011;22:308–311.

59. Noris P, Perrotta S, Bottega R, et al. Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb (Bolzano mutation). Haematologica 2012;97:82–88.

60. Kunishima S, Naoe T, Kamiya T, Saito H. Novel heterozygous mis-sense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder. Am J Hematol 2001;68:249–255.

61. 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.

62. Balduini CL, Pecci A, Savoia A. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol 2011;154: 161–174.

63. Pecci A, Malara A, Badalucco S, et al. Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation. Thromb Haemost 2009;102:90–96.

64. Spinler KR, Shin J-W, Lambert MP, Discher DE. Myosin-II repression favors pre/proplatelets but shear activation generates platelets and fails in macrothrombocytopenia. Blood 2015;125:525–533.

65. Pan J, Lordier L, Meyran D, et al. The formin DIAPH1 (mDia1) regulates megakaryocyte proplatelet formation by remodeling the actin and microtubule cytoskeletons. Blood 2014;124:3967–3977.

66. Stritt S, Nurden P, Turro E, et al. A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. Blood 2016;127:2903–2914.

67. Stritt S, Nurden P, Favier R, et al. Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg2+ homeostasis and cytoskeletal architecture. Nat Commun 2016;7:11097.

68. Kunishima S, Okuno Y, Yoshida K, et al. ACTN1 mutations cause congenital macrothrombocytopenia. Am J Hum Genet 2013;92:431–438.

69. Savoia A. Molecular basis of inherited thrombocytopenias. Clin Genet 2016;89:154–162.

70. Nurden P, Debili N, Coupry I, et al. Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome. Blood 2011;118:5928–5937.

71. Manchev VT, Hilpert M, Berrou E, et al. A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene. Blood 2014;124:2554–2563.

72. Kunishima S, Kobayashi R, Itoh TJ, Hamaguchi M, Saito H. Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. Blood 2009;113:458–461.

73. Kunishima S, Nishimura S, Suzuki H, Imaizumi M, Saito H. TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia. Eur J Haematol 2014;92:276–282.

74. Di Buduo CA, Alberelli MA, Glembotsky AC, et al. Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patients. Sci Rep 2016;6:23213.

75. Albers CA, Cvejic A, Favier R, et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet 2011;43:735–737.

76. Bottega R, Pecci A, De Candia E, et al. Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and alpha-granule deficiency. Haematologica 2013;98:868–874.

77. Thrasher AJ, Burns S, Lorenzi R, Jones GE. The Wiskott-Aldrich syndrome: disordered actin dynamics in haematopoietic cells. Immunol Rev 2000;178:118–128.

78. Massaad MJ, Ramesh N, Geha RS. Wiskott-Aldrich syndrome: a comprehensive review. Ann N Y Acad Sci 2013;1285:26–43.

79. Zhu Q, Zhang M, Blaese RM, et al. The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. Blood 1995;86:3797–3804.

80. Ancliff PJ, Blundell MP, Cory GO, et al. Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. Blood 2006;108:2182–2189.

81. Zhu Q, Watanabe C, Liu T, et al. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood 1997;90:2680–2689.

82. Sabri S, Foudi A, Boukour S, et al. Deficiency in the Wiskott-Aldrich protein induces premature proplatelet formation and platelet production in the bone marrow compartment. Blood 2006;108:134–140.

83. Albert MH, Bittner TC, Nonoyama S, et al. X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood 2010;115:3231–3238.

84.Mahlaoui N, Pellier I, Mignot C, et al. Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome. Blood 2013;121:1510–1516.

85. Morison IM, Cramer Bordé EM, Cheesman EJ, et al. A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. Nat Genet 2008;40:387–389.

86. De Rocco D, Cerqua C, Goffrini P, et al. Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. Biochim Biophys Acta – Mol Basis Dis 2014;1842:269–274.

87. Marconi C, Di Buduo CA, Barozzi S, et al. SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia. Thromb Haemost 2016;115:1076–1079.

88. Fletcher SJ, Johnson B, Lowe GC, et al. SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. J Clin Invest 2015;125:3600–3605.

89. Federici AB, Mannucci PM, Castaman G, et al. Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients. Blood 2009;113:526–534.

90. Nurden P, Gobbi G, Nurden A, et al. Abnormal VWF modifies megakaryocytopoiesis: studies of platelets and megakaryocyte cultures from patients with von Willebrand disease type 2B. Blood 2010;115:2649–2656.

91. Casari C, Du V, Wu Y-P, et al. Accelerated uptake of VWF/platelet complexes in macrophages contributes to VWD type 2B-associated thrombocytopenia. Blood 2013;122:2893–2902.

92. Markello T, Chen D, Kwan JY, et al. York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. Mol Genet Metab 2015;114:474–482.

93. Nesin V, Wiley G, Kousi M, et al. Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci USA 2014;111:4197–4202.

94. Misceo D, Holmgren AA, Louch WE, et al. A dominant STIM1 mutation causes Stormorken syndrome. Hum Mutat 2014;35:556–564.