Associated Papers
THPO promoter mutation: a familial study on congenital amegakaryocytic thrombocytopenia.
Dehghanzad R et al.
Journal of Genetics, 2025
A Rare THPO Gene Mutation in a Saudi Female Child: A Case Report and Literature Review.
Alasmari BG et al.
Cureus, 2024
Cryo-EM structure of the extracellular domain of murine Thrombopoietin Receptor in complex with Thrombopoietin.
Sarson-Lawrence KTG et al.
Nature Communications, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
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
Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia.
Cornish N et al.
Blood Advances, 2020
Recent advances in inherited platelet disorders.
Pluthero FG et al.
Current Opinion in Hematology, 2019
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
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