Associated Papers
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
A Deep Dive into the Pathology of Gray Platelet Syndrome: New Insights on Immune Dysregulation.
Glembotsky AC et al.
Journal of Blood Medicine, 2021
NBEAL2 mutations and bleeding in patients with gray platelet syndrome.
Pluthero FG et al.
Platelets, 2018
Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice.
Guerrero JA et al.
Blood, 2014
Congenital platelet disorders and understanding of platelet function.
Nurden AT et al.
British Journal of Haematology, 2014
The Nbeal2(-/-) mouse as a model for the gray platelet syndrome.
Deppermann C et al.
Rare Diseases (austin, Tex.), 2013
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
Albers CA et al.
Nature Genetics, 2011
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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