Congenital Platelet Function Disorders

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26. Noris P, Perrotta S, Seri M, et al. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 2011;117:6673-80.

27. Jalagadugula G, Mao G, Kaur G, Goldfinger LE, Dhanasekaran DN, Rao AK. Regulation of platelet myosin light chain (MYL9) by RUNX1: implications for thrombocytopenia and platelet dysfunction in RUNX1 haplodeficiency. Blood 2010;116:6037-45.

28. Bluteau D, Glembotsky AC, Raimbault A, et al. Dysmegakaryopoiesis of FPD/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression. Blood 2012;120:2708-18.

29. Sun L, Gorospe JR, Hoffman EP, Rao AK. Decreased platelet expression of myosin regulatory light chain polypeptide (MYL9) and other genes with platelet dysfunction and CBFA2/RUNX1 mutation: insights from platelet expression profiling. J Thromb Haemost 2007;5:146-54.

30. Heller PG, Glembotsky AC, Gandhi MJ, et al. Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. Blood 2005;105:4664-70.

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35. Nurden P, Nurden AT, La Marca S, Punzo M, Baronciani L, Federici AB. Platelet morphological changes in 2 patients with von Willebrand disease type 3 caused by large homozygous deletions of the von Willebrand factor gene. Haematologica 2009;94:1627-9.

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45. Afrasiabi A, Lecchi A, Artoni A, et al. Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran. Platelets 2007;18:409-13.

46. Miller JL, Lyle VA, Cunningham D. Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease. Blood 1992;79:439-46.

47. Raslova H, Komura E, Le Couedic J-P, et al. FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. J Clin Invest 2004;114:77-84.

48. Krishnamurti L, Neglia JP, Nagarajan R, et al. Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome. Am J Hematol 2001;66:295-9.

49. Savoia A, Balduini CL, Savino M, et al. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood 2001;97:1330-5.

50. McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine 2011;90:1-18.

51. Kato T, Kosaka K, Kimura M, et al. Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta. Genet Med 2003;5:113-9.

52. Lawrence S, McDonald-McGinn DM, Zackai E, Sullivan KE. Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome. J Pediatr 2003;143:277-8.

53. Sandrock K, Zieger B. Current Strategies in Diagnosis of Inherited Storage Pool Defects. Transfus Med Hemother 2010;37:248-58.

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56. Paterson AD, Rommens JM, Bharaj B, et al. Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. Blood 2010;115:1264-6.

57. Menasche G, Pastural E, Feldmann J, et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet 2000;25:173-6.

58. Sanal O, Ersoy F, Tezcan I, et al. Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity. J Clin Immunol 2002;22:237-43.

59. Hergovich N, Aigner M, Eichler HG, Entlicher J, Drucker C, Jilma B. Paroxetine decreases platelet serotonin storage and platelet function in human beings. Clinical Pharmacol Therapeut 2000;68:435-42.

60. McCloskey DJ, Postolache TT, Vittone BJ, et al. Selective serotonin reuptake inhibitors: measurement of effect on platelet function. Translational Res 2008;151:168-72.

61. Ong HT, Ong LM, Tan TE, Chean KY. Cardiovascular effects of common analgesics. The Medical journal of Malaysia 2013;68:189-94.

62. McEwen BJ, Morel-Kopp M-C, Chen W, Tofler GH, Ward CM. Effects of omega-3 polyunsaturated fatty acids on platelet function in healthy subjects and subjects with cardiovascular disease. Semin Thromb Hemost 2013;39:25-32.

63. Demers C, Derzko C, David M, Douglas J, Canada SoOaGo. Gynaecological and obstetric management of women with inherited bleeding disorders. Int J Gynaecol Obstet 2006;95:75-87.

64. Rodeghiero F. Management of menorrhagia in women with inherited bleeding disorders: general principles and use of desmopressin. Haemophilia 2008;14 Suppl 1:21-30.

65. DiMichele DM, Hathaway WE. Use of DDAVP in inherited and acquired platelet dysfunction. Am J Hematol 1990;33:39-45.

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68. Almeida AM, Khair K, Hann I, Liesner R. The use of recombinant factor VIIa in children with inherited platelet function disorders. Br J Haematol 2003;121:477-81.

69. Fox NE, Lim J, Chen R, Geddis AE. F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents. Exp Hematol 2010;38:384-91.

70. Pecci A, Gresele P, Klersy C, et al. Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood 2010;116:5832-7

71. Del Vecchio, G.C., et al., Dyserythropoietic anemia and thrombocytopenia due to a novel mutation in GATA-1. Acta Haematol, 2005. 114(2): p. 113-6.

72. Nichols, K.E., et al., Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet, 2000. 24(3): p. 266-70.

73. Saultier, P., et al., Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features. Haematologica, 2017. 102(6): p. 1006-1016.

74. Schlegelberger, B. and P.G. Heller, RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM). Semin Hematol, 2017. 54(2): p. 75-80.

75. Noetzli, L., et al., Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet, 2015. 47(5): p. 535-538.

76. Zhang, M.Y., et al., Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet, 2015. 47(2): p. 180-5.

77. Fiore, M., C. Goulas, and X. Pillois, A new mutation in TUBB1 associated with thrombocytopenia confirms that C-terminal part of beta1-tubulin plays a role in microtubule assembly. Clin Genet, 2017. 91(6): p. 924-926.

78. Kunishima, S., et al., Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. Blood, 2009. 113(2): p. 458-61.

79. Bottega, R., et al., ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization. Blood, 2015. 125(5): p. 869-72.

80. Kunishima, S., et al., ACTN1 mutations cause congenital macrothrombocytopenia. Am J Hum Genet, 2013. 92(3): p. 431-8.

81. Stritt, S., et al., A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. Blood, 2016. 127(23): p. 2903-14.

82. Manchev, V.T., et al., A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene. Blood, 2014. 124(16): p. 2554-63.

83. Canault, M., et al., Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding. J Exp Med, 2014. 211(7): p. 1349-62.

84. De Rocco, D., et al., Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. Biochim Biophys Acta, 2014. 1842(2): p. 269-74.

85. Fletcher, S.J., et al., SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. J Clin Invest, 2015. 125(9): p. 3600-5.

86. Zhou, Y. and J. Zhang, Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features. Ital J Pediatr, 2014. 40: p. 77.

87. Misceo, D., et al., A dominant STIM1 mutation causes Stormorken syndrome. Hum Mutat, 2014. 35(5): p. 556-64.

88. Turro, E., 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(328): p. 328ra30.