Article
Specific proteome changes in platelets from individuals with GATA1-, GFI1B-, and RUNX1-linked bleeding disorders.
Blood - 8 Jul 2021
Van Bergen M G J M, Marneth A E, Hoogendijk A J, Van Alphen F P J, Van den Akker E, Laros-Van Gorkom B A P, Hoeks M, Simons A, De Munnik S A, Janssen J J W M, Martens J H A, Jansen J H, Meijer A B, Van der Reijden B A
Abstract excerpt
Mutations in the transcription factors GATA binding factor 1 (GATA1), growth factor independence 1B (GFI1B), and Runt-related transcription factor 1 (RUNX1) cause familial platelet and bleeding disorders. Mutant platelets exhibit common abnormalities including an α-granule reduction resulting in a grayish appearance in blood smears. This suggests that similar pathways are deregulated by different transcription...
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