Combined transcriptome and proteome profiling of SRC kinase activity in healthy and E527K defective megakaryocytes KU Leuven
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Pathophysiological characterization of megakaryopoiesis and erythropoiesis: whole genome sequencing and functional studies KU Leuven
My PhD project aimed to gain more insight into megakaryopoiesis and erythropoiesis by studying patients with inherited thrombocytopenia and inherited anemia, respectively.Firstly, in 2016, my host lab identified a germline heterozygous missense variant E527K in SRC in a large pedigree with dominant thrombocytopenia using whole genome sequencing. Patients that carry the E527K SRC variant present with thrombocytopenia accompanied with bleeding ...
The (Patho)Biology of SRC Kinase in Platelets and Megakaryocytes KU Leuven
Proto-oncogene tyrosine-protein kinase SRC (SRC), as other members of the SRC family kinases (SFK), plays an important role in regulating signal transduction by different cell surface receptors after changes in the cellular environment. Here, we reviewed the role of SRC in platelets and megakaryocytes (MK). In platelets, inactive closed SRC is coupled to the β subunit of integrin αIIbβ3 while upon fibrinogen binding during platelet activation, ...
De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family KU Leuven
A germline heterozygous gain-of-function p.E527K variant in tyrosine kinase SRC was previously found to cause thrombocytopenia, myelofibrosis, bleeding, bone pathologies, premature edentulism and mild facial dysmorphia in nine patients of a single pedigree. Because of this variant, SRC loses its self-inhibitory capacity, causing constitutively active SRC expression in platelets. These patients have fewer and heterogeneous-sized platelets that ...