Ammeti D., Marzollo A., Gabelli M., Zanchetta M. E., Tretti-Parenzan C., Bottega R. et al. 2023 A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure. Br. J. Haematol. 203, 852–859.
Article CAS PubMed Google Scholar
Balduini C. L. 2023 The name counts: the case of congenital amegakaryocytic thrombocytopenia. Haematologica 108, 1216.
Capaci V., Adam E., Bar-Joseph I., Faleschini M., Pecci A. and Savoia A. 2023 Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia. Haematologica 108, 1385
Article CAS PubMed Google Scholar
Cornish N., Aungraheeta M. R., FitzGibbon L., Burley K., Alibhai D., Collins J. et al. 2020 Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia. Blood Adv. 4, 920–924.
Article CAS PubMed PubMed Central Google Scholar
Dasouki M. J., Rafi S. K., Olm-Shipman A. J., Wilson N. R., Abhyankar S., Ganter B. et al. 2013 Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia. Blood 122, 3440–3449.
Article CAS PubMed PubMed Central Google Scholar
Geddis A. E. 2011 Congenital amegakaryocytic thrombocytopenia. Pediatr. Blood. Cancer 57, 199–203.
Germeshausen M. and Ballmaier M. 2021a CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations-heterogeneity of a monogenic disorder-a comprehensive analysis of 56 patients. Haematologica 106, 2439.
Article CAS PubMed Google Scholar
Germeshausen M. and Ballmaier M. 2021b Congenital amegakaryocytic thrombocytopenia–not a single disease. Best Pract. Res. Clini. Haematol. 34, 101286.
Khan A., Fornes O., Stigliani A., Gheorghe M., Castro-Mondragon J. A., Der Lee Van et al. 2018 JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework. Nucleic Acids Res. 46, D260–D266.
Article CAS PubMed Google Scholar
Noris P., Marconi C., De Rocco D., Melazzini F., Pippucci T., Loffredo G. et al. 2018 A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene. Br. J. Haematol. 181, 698–701.
Pecci A., Ragab I., Bozzi V., De Rocco D., Barozzi S., Giangregorio T. et al. 2018 Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim. EMBO Mol. Med. 10, 63–75.
Article CAS PubMed Google Scholar
Richards S., Aziz N., Bale S., Bick D., Das S., Gastier-Foster J. et al. 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–423.
Article PubMed PubMed Central Google Scholar
Seo A., Ben-Harosh M., Sirin M., Stein J., Dgany O., Kaplelushnik J. et al. 2017 Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin. Blood 130, 875–880.
Article CAS PubMed PubMed Central Google Scholar
Shah A., Kumar C., Shanmukhaiah C., Rajendran A., Mudaliar S., Idicula-Thomas S. et al. 2023 Genomic and computational analysis of four novel variants of MPL gene in Congenital Amegakaryocytic Thrombocytopenia. Anna. Hematol. 102, 2683–2693.
Songdej N. and Rao A. K. 2017 Hematopoietic transcription factor mutations: important players in inherited platelet defects. Blood 129, 2873–2881.
Article CAS PubMed PubMed Central Google Scholar
Spivak J. L. and Moliterno A. R. 2021 The thrombopoietin receptor, MPL, is a therapeutic target of opportunity in the MPN. Front. Oncol. 11, 641613.
Article CAS PubMed PubMed Central Google Scholar
Vissers L. T. W., van der Burg M., Lankester A. C., Smiers F. J. W., Bartels M. and Mohseny A. B. 2023 Pediatric bone marrow failure: a broad landscape in need of personalized management. J. Clini. Med. 12, 7185.
Yoshihara H., Arai F., Hosokawa K., Hagiwara T., Takubo K., Nakamura Y. et al. 2007 Thrombopoietin/MPL signaling regulates hematopoietic stem cell quiescence and interaction with the osteoblastic niche. Cell Stem Cell 1, 685–697.
Comments (0)