Glycosylation is recognized as a key process for proper megakaryopoiesis and platelet
formation. The enzyme uridine diphosphate (UDP)-galactose-4-epimerase, encoded by …

Abstract Background The international study ThromboGenomics has evaluated the
diagnostic rate using a targeted multigene panel test for the screening of inherited bleeding …

Glanzmann thrombasthenia (GT) is the most widely studied inherited disease of platelet
function. Platelets fail to aggregate due to a defect in platelet-to-platelet attachment. The …

This review is focused on genetic regulators of bleeding and thrombosis with a focus on next‐
generation sequencing (NGS) technologies for diagnosis and research of patients with …

Background Gliomas are recognized as the most frequent type of malignancies in the central
nervous system, and efficacious prognostic indicators are essential to treat patients with …

Fragment-based drug discovery (FBDD) has emerged as a powerful strategy to confront the
challenges faced by conventional drug development approaches, particularly in the context …

Background The transcription factor GATA1 is an essential regulator of erythroid cell gene
expression and maturation and is also relevant for platelet biogenesis. GATA1-related …

Background: Familial multiple coagulation factor deficiencies (FMCFDs) are a group of
inherited hemostatic disorders with the simultaneous reduction of plasma activity of at least …

Introduction Investigation of the molecular basis of inherited bleeding disorders (IBD) is
mostly performed with gene panel sequencing. However, the continuous discovery of new …

ABSTRACT Introduction Rare Bleeding Disorders have a low population prevalence and
may not be recognized by most clinicians. In addition, knowledge gaps of the indicated …