Associated Papers
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
Correction of Severe Myelofibrosis, Impaired Platelet Functions and Abnormalities in a Patient with Gray Platelet Syndrome Successfully Treated by Stem Cell Transplantation.
Favier R et al.
Platelets, 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
The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.
Cullinane AR et al.
Traffic (copenhagen, Denmark), 2013
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
Albers CA et al.
Nature Genetics, 2011
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