References
- Almazni I, Stapley R, Morgan N. Inherited thrombocytopenia: update on genes and genetic variants which may be associated with bleeding. Front Cardiovasc Med 2019;6:80–86. doi:https://doi.org/10.3389/fcvm.2019.00080
- Zaninetti C, Greinacher A. Diagnosis of inherited platelet disorders on a blood smear. J Clin Med 2020;9:539–548. doi:https://doi.org/10.3390/jcm9020539
- Alagbe O, Alagbe A, Onifade E, Bello T. Thrombocytopenia with absent radii (TAR) syndrome in a female neonate. A case report. Pan Afr Med J 2017;33:181–189.
- Galera P, Dulau-Florea A, Calvo K. Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia. Int J Lab Hematol 2019;41:131–141. doi:https://doi.org/10.1111/ijlh.12999
- Pecci A, Granata A, Fiore C, Balduini C. Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). Nephrol Dial Transpl 2008;23:2690–2692. doi:https://doi.org/10.1093/ndt/gfn277
- Macaulay I, Tijssen M, Thijssen-Timmer D, Gusnanto A, Steward M, Burns P, Langford CF, Ellis PD, Dudbridge F, Zwaginga -J-J, et al. Comparative gene expression profiling of in vitro differentiated megakaryocytes and erythroblasts identifies novel activatory and inhibitory platelet membrane proteins. Blood 2007;109:3260–3269. doi:https://doi.org/10.1182/blood-2006-07-036269
- Savoia A, Del Vecchio M, Totaro A, Perrotta S, Amendola G, Moretti A, Zelante L, Iolascon A. An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p. Am J Hum Genet 1999;65:1401–1405. doi:https://doi.org/10.1086/302637
- Drachman J, Jarvik G, Mehaffey M. Autosomal dominant thrombocytopenia: incomplete megakaryocyte differentiation and linkage to human chromosome 10. Blood 2000;96:118–125. doi:https://doi.org/10.1182/blood.V96.1.118
- Raciti G, Bera T, Gavrilova O, Pastan I. Partial inactivation of Ankrd26 causes diabetes with enhanced insulin responsiveness of adipose tissue in mice. Diabetologia 2011;54:2911–2922. doi:https://doi.org/10.1007/s00125-011-2263-9
- Fei Z, Bera T, Liu X, Xiang L, Pastan I. Ankrd26 gene disruption enhances adipogenesis of mouse embryonic fibroblasts. J Biol Chem 2011;286:27761–27768. doi:https://doi.org/10.1074/jbc.M111.248435
- Bera T, Liu X, Yamada M, Gavrilova O, Mezey E, Tessarollo L, Anver M, Hahn Y, Lee B, Pastan I, et al. A model for obesity and gigantism due to disruption of the Ankrd26 gene. Proc Natl Acad Sci U S A 2008;105:270–275. doi:https://doi.org/10.1073/pnas.0710978105
- 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 50 UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet 2011;88:115–120. doi:https://doi.org/10.1016/j.ajhg.2010.12.006
- Botero J, Dugan S, Anderson M. ANKRD26-related thrombocytopenia. Synonym:Thrombocytopenia2 (THC2). Genereviews 2018; Chapter 713:215–220.
- Savoia A, Gnan C, Faleschini M. Inherited thrombocytopenias with predisposition the hematological malignancies. Annu Rev Hematol Oncol 2017;1:39–42.
- 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. J Clin Med Invest 2014;124:580–591. doi:https://doi.org/10.1172/JCI71861
- Balduini A, Raslova H, Di Baduo C, Donada A, Ballmaier M, Germeshausen M, Balduini CL. Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related thrombocytopenia and MYH9-related diseases. Eur J Med Genet 2018;61:715–722. doi:https://doi.org/10.1016/j.ejmg.2018.01.014
- 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;117:24–30. doi:https://doi.org/10.1182/blood-2011-02-336537
- Necchi V, Balduini A, Noris P, Barozzi S, Sommi P, Di Buduo C, Balduini C, Solcia E, Pecci A. Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia. J Thromb Haemost 2013;109:263–271. doi:https://doi.org/10.1160/TH12-07-0497
- Marconi C, Canobbio I, Bozzi V, Pippucci T, Simonetti G, Melazzini F, Angori S, Martinelli G, Saglio G, Torti M, et al. 5ʹUTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia. J Hematol Oncol 2017;10:18–23. doi:https://doi.org/10.1186/s13045-016-0382-y
- Zaninetti C, Santini V, Tiniakou M, Barozzi S, Savoia A, Pecci A. Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases. J Thromb Haemost 2017;15:2388–2392. doi:https://doi.org/10.1111/jth.13855
- Noris P, Favier R, Alessi M, Geddis AE, Kunishima S, Heller PG, Giordano P, Niederhoffer KY, Bussel JB, Podda GM, et al. ANKRD26-related thrombocytopenia and myeloid malignancies. Blood 2013;122:1987–1989. doi:https://doi.org/10.1182/blood-2013-04-499319
- Marquez R, Hantel A, Lorenz R, Neistadt B, Wong J, Churpek JE, Mardini NA, Shaukat I, Gurbuxani S, Miller JL, et al. A new family with a germline ANKRD26 mutation and predisposition to myeloid malignancies. Leuk Lymphoma 2014;55:2945–2946. doi:https://doi.org/10.3109/10428194.2014.903476
- Perez Botero J, Oliveira J, 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 J 2015;5:315–321. doi:https://doi.org/10.1038/bcj.2015.41
- Babushok D, Bessler M, Olson T. Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults. Leuk Lymphoma 2016;57:520–536. doi:https://doi.org/10.3109/10428194.2015.1115041
- Lee S, Rauch J, Kolch W. Targeting MAPK signaling in cancer: mechanisms of drug resistance and sensitivity. Int J Mol Sci 2020;21:1102–1131. doi:https://doi.org/10.3390/ijms21031102
- Lugowska I, kosela-pateczyk H, Kozak K, Rkowski P. Trametinib: a MEK inhibitor for management of metastatic melanoma. Onco Targets Ther 2015;8:2251–2259. doi:https://doi.org/10.2147/OTT.S72951
- Provan D, Stasi R, Newland A, Blanchette V, Bolton-Maggs P, Bussel J, Chong B, Cines D, Gernsheimer T, Godeau B, et al. International consensus report on the investigation and management of primary immune thrombocytopenia. Blood. 2010; 115: 168–186.
- Rodeghiero F, Ruggeri M. ITP and international guidelines: what do we know, what do we need? Q Med Rev 2014. doi:https://doi.org/10.1016/j.lpm.2014.02.004
- Ferrari S, Lombardi A, Putti M, Bertomoro A, Cortella I, Barzon I, Girolami A, Fabris F. Spectrum of 5’UTR mutations in ANKRD26 gene in patients with inherited thrombocytopenia: c.-140C>G mutation is more frequent than expected. Platelets 2017;28:621–624. doi:https://doi.org/10.1080/09537104.2016.1267337
- Pereira Coelho D, Azevedo J, Martinho P, Nascimento T, Marini S, Ribeiro BA, Cortesão E, Luís D, Rito L, Sevivas T, et al. ANKRD26-RELATED THROMBOCYTOPENIA: STUDY OF 3 FAMILIES. Hemasphere 2019;3:689–692. doi:https://doi.org/10.1097/01.HS9.0000564244.71382.2b
- Perez Botero J, Ho T, Hogan W, Kenderian S, Gangat N, Tefferi A, Abraham RS, Nguyen P, Oliveira JL, He R, et al. Clinical spectrum and clonal evolution in germline syndromes with predisposition to myeloid neoplasms. Br J Haematol 2017;182:141–145. doi:https://doi.org/10.1111/bjh.14746
- Perez Botero J, Chen D, He R, Viswanatha DS, Majerus JA, Coon LM, Nguyen PL, Reichard KK, Oliveira JL, Tefferi A, et al. Clinical and laboratory characteristics in congenital ANKRD26 mutation-associated thrombocytopenia: A detailed phenotypic study of a family. Platelets 2016;27(7):712–715. doi:https://doi.org/10.3109/09537104.2016.1171305