References
- Noris P, Perrotta S, Seri M, Pecci A, Gnan C, Loffredo G, Pujol-Moix N, Zecca M, Scognamiglio F, De Rocco D, et al. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 2011;117(24):6673–6680.
- Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, Pecci A, Gnan C, Punzo F, Marconi C, et al. Mutations in the 5’ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. American Journal of Human Genetics 2011;88(1):115–120.
- Necchi V, Balduini A, Noris P, Barozzi S, Sommi P, di Buduo C, Balduini CL, Solcia E, Pecci A. Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia. Thrombosis and Haemostasis 2013;109(2):263–271.
- Kraemer BF, Weyrich AS. Polyubiquinated protein depots in platelets and megakaryocytes from patients with ANKRD26-RT. Thrombosis and Haemostasis 2013;109(2):180.
- Miller R, Lingineni R, Bryant SC, Chen D. Validation of two flow cytometry methods to measure platelet surface glyocoprotein proteins. Journal of Thrombosis and Haemostasis: JTH 2014;12(s1):1–117.
- Uhl CB, Barness RL, Olson MC, Gossman SC, Erdogan S, Gamb SI, Charlesworth JE, Lingineni R, Bryant SC, Miller RS, et al. Platelet storage pool deficiency: Establishment of reference ranges for platelet dense granule count by transmission electron microscopy. Blood 2013;122(21):3549–3549.
- Perez Botero J, Oliveira JL, Chen D, Reichard KK, Viswanatha DS, Nguyen PL, Pruthi RK, Majerus J, Gada P, Gangat N, et al. ASXL1 mutated chronic myelomonocytic leukemia in a patient with familial thrombocytopenia secondary to germline mutation in ANKRD26. Blood Cancer Journal 2015;5:e315.
- Rodeghiero F, Tosetto A, Abshire T, Arnold DM, Coller B, James P, Neunert C, Lillicrap D; ISTH/SSC joint VWF and Perinatal/Pediatric Hemostasis Subcommittees Working Group. ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. Journal of Thrombosis and Haemostasis: JTH 2010;8(9): 2063–2065.
- Hayward CP, Moffat KA, Pai M, Liu Y, Seecharan J, McKay H, Webert KE, Cook RJ, Heddle NM. An evaluation of methods for determining reference intervals for light transmission platelet aggregation tests on samples with normal or reduced platelet counts. Thrombosis and Haemostasis 2008;100(1):134–145.
- Patnaik MM, Itzykson R, Lasho TL, Kosmider O, Finke CM, Hanson CA, Knudson RA, Ketterling RP, Tefferi A, Solary E. ASXL1 and SETBP1 mutations and their prognostic contribution in chronic myelomonocytic leukemia: a two-center study of 466 patients. Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K 2014;28(11):2206–2212.
- Bluteau D, Balduini A, Balayn N, Currao M, Nurden P, Deswarte C, Leverger G, Noris P, Perrotta S, Solary E, et al. Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation. The Journal of Clinical Investigation 2014;124(2):580–591.
- Michaud J, Wu F, Osato J, M J, Cottles GM, Yanagida M, Asou N, Shigesada K, Ito Y, Benson KF, Raskind WH, et al. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood 2002;99(4):1364–1372.
- Zhang MY, Churpek JE, Keel SB, Walsh T, Lee MK, Loeb KR, Gulsuner S, Pritchard CC, Sanchez-Bonilla M, Delrow JJ, et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nature Genetics 2015;47(2):180–185.
- Lowe GC, Lordkipanidze M, Watson SP. Utility of the ISTH bleeding assessment tool in predicting platelet defects in participants with suspected inherited platelet function disorders. Journal of Thrombosis and Haemostasis: JTH 2013;11(9):1663–1668.