Associated Papers
Molecular basis of platelet granule defects.
Yao HHY et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.
Delage L et al.
Nature Communications, 2023
A Deep Dive into the Pathology of Gray Platelet Syndrome: New Insights on Immune Dysregulation.
Glembotsky AC et al.
Journal of Blood Medicine, 2021
The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte α-granule biogenesis.
Lo RW et al.
Blood, 2020
NBEAL2 mutations and bleeding in patients with gray platelet syndrome.
Pluthero FG et al.
Platelets, 2018
Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?
Nurden AT et al.
American Journal of Hematology, 2016
Congenital platelet disorders and understanding of platelet function.
Nurden AT et al.
British Journal of Haematology, 2014
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.
Gunay-Aygun M et al.
Nature Genetics, 2011
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