References
- Rendu F, Brohard-Bohn B. The platelet release reaction: Granules’ constituents, secretion and functions. Platelets 2001;12(5):261–273.
- Koseoglu S, Flaumenhaft R. Advances in platelet granule biology. Current Opinion in Hematology 2013;20(5):464–471.
- Joshi S, Whiteheart SW. The nuts and bolts of the platelet release reaction. Platelets 2017; 28(2):129–137.
- Nurden AT, Nurden P. The gray platelet syndrome: Clinical spectrum of the disease. Blood Reviews 2007;21(1):21–36.
- Kahr WH, Dror Y. Gray platelet syndrome: Macrothrombocytopenia with deficient alpha-granules. Blood 2012;120(13):2543.
- Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, Kleta R, Kfir N, Anikster Y, Chezar J, et al. Gray platelet syndrome: Natural history of a large patient cohort and locus assignment to chromosome 3p. Blood 2010;116(23):4990–5001.
- Jantunen E, Hanninen A, Naukkarinen A, Vornanen M, Lahtinen R. Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: A case report with review of the literature. American Journal of Hematology 1994;46(3):218–224.
- Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, et al. Mutations in nbeal2, encoding a beach protein, cause gray platelet syndrome. Nature Genetics 2011;43(8):738–740.
- Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y et al. Nbeal2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. Nature Genetics 2011;43(8):732–734.
- Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, Jordan G, Kettleborough RN, Kiddle G, Kostadima M, et al. Exome sequencing identifies nbeal2 as the causative gene for gray platelet syndrome. Nature Genetics 2011;43(8):735–737.
- Bottega R, Pecci A, De Candia E, Pujol-Moix N, Heller PG, Noris P, De Rocco D, Podda GM, Glembotsky AC, Cattaneo M, et al. Correlation between platelet phenotype and nbeal2 genotype in patients with congenital thrombocytopenia and alpha-granule deficiency. Haematologica 2013;123(8):3331–3342.
- Deppermann C, Cherpokova D, Nurden P, Schulz JN, Thielmann I, Kraft P, Vogtle T, Kleinschnitz C, Dutting S, Krohne G, et al. Gray platelet syndrome and defective thrombo-inflammation in nbeal2-deficient mice. The Journal of Clinical Investigation 2013;123(8):3331–3342.
- Tomberg K, Khoriaty R, Westrick RJ, Fairfield HE, Reinholdt LG, Brodsky GL, Davizon-Castillo P, Ginsburg D, Di Paola J. Spontaneous 8bp deletion in nbeal2 recapitulates the gray platelet syndrome in mice. PloS One 2016;11(3):e0150852.
- Monteferrario D, Bolar NA, Marneth AE, Hebeda KM, Bergevoet SM, Veenstra H, Laros-van Gorkom BA, MacKenzie MA, Khandanpour C, Botezatu L, et al. A dominant-negative GFI1B mutation in the gray platelet syndrome. The New England Journal of Medicine 2014;370(3):245–253.