Associated Papers
THPO promoter mutation: a familial study on congenital amegakaryocytic thrombocytopenia.
Dehghanzad R et al.
Journal of Genetics, 2025
Cryo-EM structure of the extracellular domain of murine Thrombopoietin Receptor in complex with Thrombopoietin.
Sarson-Lawrence KTG et al.
Nature Communications, 2024
Genomic Variation Affecting MPV and PLT Count in Association with Development of Ischemic Stroke and Its Subtypes.
Ludhiadch A et al.
Molecular Neurobiology, 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.
Capaci V et al.
Haematologica, 2023
Generation of a thrombopoietin-deficient thrombocytopenia model in zebrafish.
Yang L et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.
Noris P et al.
British Journal of Haematology, 2018
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim.
Pecci A et al.
Embo Molecular Medicine, 2018
Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin.
Seo A et al.
Blood, 2017
Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis.
Plo I et al.
Frontiers in Endocrinology, 2017
Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.
Iotchkova V et al.
Nature Genetics, 2016
Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.
Dasouki MJ et al.
Blood, 2013
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