AC Glembotsky, G De Luca, PG Heller - Journal of Blood Medicine, 2021 - Taylor & Francis
The gray platelet syndrome (GPS) is a rare platelet disorder, characterized by impaired alpha-granule biogenesis in megakaryocytes and platelets due to NBEAL2 mutations …
L Delage, F Carbone, Q Riller, JL Zachayus… - Nature …, 2023 - nature.com
Loss of NBEAL2 function leads to grey platelet syndrome (GPS), a bleeding disorder characterized by macro-thrombocytopenia and α-granule-deficient platelets. A proportion of …
CEM Aarts, K Downes, AJ Hoogendijk… - Blood …, 2021 - ashpublications.org
Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder characterized by a lack of α-granules in platelets and progressive myelofibrosis. Rare loss-of-function variants …
J Lykins, IC Becker, V Camacho, HR Alfar… - Blood …, 2025 - ashpublications.org
Megakaryocytes (MKs) produce platelets, and similar to other hematopoietic progenitors, they are involved in homeostatic aspects of their bone marrow niche. MKs release and …
SJ Chen, K Hashimoto, K Fujio, K Hayashi… - Nature …, 2024 - nature.com
We recently achieved the first-in-human transfusion of induced pluripotent stem cell-derived platelets (iPSC-PLTs) as an alternative to standard transfusions, which are dependent on …
Many roles of human platelets in health and disease are linked to their ability to transport and secrete a variety of small molecules and proteins carried in dense (δ-) and α-granules …
NZ Durán-Saenz, A Serrano-Puente… - Membranes, 2022 - mdpi.com
In addition to being biological barriers where the internalization or release of biomolecules is decided, cell membranes are contact structures between the interior and exterior of the …
F Ver Donck, V Labarque, K Freson - Research and Practice in Thrombosis …, 2021 - Elsevier
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 …
CY Lu, JZ Wu, HHY Yao, RJY Liu, L Li… - Journal of Thrombosis …, 2024 - Elsevier
Background Platelets coordinate blood coagulation at sites of vascular injury and play fundamental roles in a wide variety of (patho) physiological processes. Key to many platelet …