Associated Papers
NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.
Delage L et al.
Nature Communications, 2023
37349339 (PubMed )
Supplement: 41467_2023_39295_MOESM1_ESM.pdf
Mutations in Neurobeachin-like 2 do not impact Weibel-Palade body biogenesis and von Willebrand factor secretion in gray platelet syndrome Endothelial Colony Forming Cells.
Kat M et al.
Research and Practice in Thrombosis and Haemostasis, 2023
Neutrophil specific granule and NETosis defects in gray platelet syndrome.
Aarts CEM et al.
Blood Advances, 2021
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
Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing.
Maclachlan A et al.
Platelets, 2017
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
Albers CA et al.
Nature Genetics, 2011
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