A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

(2013) Shinji Kunishima et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The incredible journey: From megakaryocyte development to platelet formation

(2013) Kellie R. Machlus et al.   JOURNAL OF CELL BIOLOGY

GFI1Bmutation causes a bleeding disorder with abnormal platelet function

(2013) W. S. Stevenson et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Inherited thrombocytopenias frequently diagnosed in adults

(2013) C. L. Balduini et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

The first comprehensive and quantitative analysis of human platelet protein composition allows the comparative analysis of structural and functional pathways

(2012) J. M. Burkhart et al.   BLOOD

Cyclic AMP-specific phosphodiesterase, PDE8A1, is activated by protein kinase A-mediated phosphorylation

(2012) Kim M. Brown et al.   FEBS LETTERS

RUNX1-induced silencing of non-muscle myosin heavy chain IIB contributes to megakaryocyte polyploidization

(2012) Larissa Lordier et al.   Nature Communications

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

(2011) P. Nurden et al.   BLOOD

Novel roles of cAMP/cGMP-dependent signaling in platelets

(2011) A. SMOLENSKI   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

(2011) Cornelis A Albers et al.   NATURE GENETICS

Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets in vitro

(2011) Alessandra Balduini et al.   PLATELETS

High shear-dependent loss of membrane integrity and defective platelet adhesion following disruption of the GPIb -filamin interaction

(2010) S. L. Cranmer et al.   BLOOD

Regulators of Platelet cAMP Levels: Clinical and Therapeutic Implications

(2010) L. Noe et al.   CURRENT MEDICINAL CHEMISTRY

Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder

(2010) Daniela De Rocco et al.   THROMBOSIS AND HAEMOSTASIS

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

P19INK4D links endomitotic arrest and megakaryocyte maturation and is regulated by AML-1

(2008) L. Gilles et al.   BLOOD

The hereditary inclusion body myopathy enigma and its future therapy

(2008) Zohar Argov et al.   Neurotherapeutics