ArticleBritish journal of haematology2026
Altered cytoskeletal integrity underlies impaired platelet shape change and defective thrombus formation in ETV6-related thrombocytopenia.
Article in British journal of haematology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
ETV6-related thrombocytopenia (ETV6-RT) is an inherited platelet disorder caused by germline ETV6 variants. Despite recent progress, the mechanisms underlying platelet dysfunction in ETV6-RT remain unclear. We investigated 12 patients from six families using functional assays, electron microscopy, quantitative proteomics and cytoskeletal imaging. Most patients exhibited mild-to-moderate thrombocytopenia with variable paediatric bleeding symptoms (median International Society on Thrombosis and Haemostasis Bleeding Assessment Tool 3, range 1-9) but consistently mild bleeding in adulthood (median 0, range 0-1). Ex vivo thrombus formation was reduced independent of platelet count. Electron microscopy revealed defective platelet shape maintenance, characterized by spheroid morphology, reduced D
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