Article
Growth factor independent 1B is a metabolic regulator that exerts pleiotropic effects on platelet function.
Journal of thrombosis and haemostasis : JTH - 1 Oct 2025
Morel-Kopp Marie-Christine, Levade Marie, Beutler Lucinda, Chen Qiang, Othman Jad, Steffen Pascal, McKay Matthew J, Molloy Mark P, Selvadurai Maria V, Liang Helena P H, Whittaker Shane, van der Wal Dianne E, Gabrielli Sara, Hamilton Justin R, Chen Vivien M, Ng Ashley P, Ward Christopher M, Stevenson William S
Abstract excerpt
BACKGROUND: Human variants in the growth factor independent 1B (GFI1B) transcription factor are associated with thrombocytopenia and a variable bleeding phenotype. OBJECTIVES: In this study, we examined the bleeding phenotype associated with the human GFI1BH294fs variant and compared it with a mouse model of abnormal GFI1B function. METHODS: The transcriptomic and proteomic profiles of human GFI1BH294fs platelets...
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