Weibel-Palade bodies are endothelial secretory organelles that contain von Willebrand
factor, P-selectin and CD63. Release of von Willebrand factor from Weibel-Palade bodies is …

Hermansky-Pudlak syndrome (HPS) is a recessive disorder with bleeding diathesis, which
has been linked to platelet granule defects. Both platelet granules and endothelial Weibel …

Hermansky Pudlak syndrome type 2 (HPS2) is a rare disorder associated with mutations in
the Adaptor Protein 3 (AP-3) complex, which is involved in sorting transmembrane proteins …

Protein disulfide isomerase (PDI), secreted from platelets and endothelial cells after injury, is
required for thrombus formation. The effect of platelet and endothelial cell granule contents …

We report on the molecular etiology of an unusual clinical phenotype associating congenital
neutropenia, thrombocytopenia, developmental delay, and hypopigmentation. Using genetic …

Endocytosis is key to fibrinogen (Fg) uptake, trafficking of integrins (αIIbβ3, αvβ3), and
purinergic receptors (P2Y1, P2Y12), and thus normal platelet function. However, the …

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by
defective biogenesis of lysosome-related organelles. Clinical manifestations include a …

Hermansky–Pudlak syndrome type 2 (HPS2) is an extremely rare autosomal recessive
inherited disease characterized by partial oculocutaneous albinism (OCA), bleeding …

Hermansky Pudlak syndrome (HPS) is an autosomal recessive inherited disorder
characterized by defects in synthesis and/or secretion of three related subcellular …

Abstract Background Hermansky-Pudlak syndrome 2 (HPS2; OMIM# 608233) is a rare,
autosomal recessive disorder caused by loss-of-function genetic variations affecting AP3B1 …