Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?

VPS33B regulates protein sorting into and maturation of  -granule progenitor organelles in mouse megakaryocytes

(2015) D. Bem et al.   BLOOD

Platelet geometry sensing spatially regulates  -granule secretion to enable matrix self-deposition

(2015) Y. Sakurai et al.   BLOOD

From cytopenia to leukemia: the role of Gfi1 and Gfi1b in blood formation

(2015) T. Moroy et al.   BLOOD

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

(2015) A. Rensing-Ehl et al.   BLOOD

Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias

(2015) Remi Favier et al.   BRITISH JOURNAL OF HAEMATOLOGY

Reciprocal regulation of alternative lineages by Rgs18 and its transcriptional repressor Gfi1b

(2015) Ananya Sengupta et al.   JOURNAL OF CELL SCIENCE

Inherited disorders of platelet function: selected updates

(2015) A. T. Nurden et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Platelet secretory behaviour: as diverse as the granules … or not?

(2015) H. Heijnen et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Megakaryocytic emperipolesis and platelet function abnormalities in five patients with gray platelet syndrome

(2015) Luigi M. Larocca et al.   PLATELETS

Gray platelet syndrome: proinflammatory megakaryocytes and  -granule loss cause myelofibrosis and confer metastasis resistance in mice

(2014) J. A. Guerrero et al.   BLOOD

What Can Proteomics Tell Us About Platelets?

(2014) Julia M. Burkhart et al.   CIRCULATION RESEARCH

Platelets are not all gray in GFI1B disease

(2014) W.S. Stevenson et al.   CLINICAL GENETICS

Distinct, strict requirements for Gfi-1b in adult bone marrow red cell and platelet generation

(2014) Adlen Foudi et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Transcriptional diversity during lineage commitment of human blood progenitors

(2014) L. Chen et al.   SCIENCE

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

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

Abnormal megakaryocyte development and platelet function in Nbeal2-/- mice

(2013) W. H. A. Kahr et al.   BLOOD

Advances in platelet granule biology

(2013) Secil Koseoglu et al.   CURRENT OPINION IN HEMATOLOGY

Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice

(2013) Carsten Deppermann et al.   JOURNAL OF CLINICAL INVESTIGATION

GFI1Bmutation causes a bleeding disorder with abnormal platelet function

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

A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome

(2013) Davide Monteferrario et al.   NEW ENGLAND JOURNAL OF MEDICINE

The BEACH Is Hot: A LYST of Emerging Roles for BEACH-Domain Containing Proteins in Human Disease

(2013) Andrew R. Cullinane et al.   TRAFFIC

Granule exocytosis is required for platelet spreading: differential sorting of  -granules expressing VAMP-7

(2012) C. G. Peters et al.   BLOOD

Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and  -granule deficiency

(2012) R. Bottega et al.   HAEMATOLOGICA

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome

(2012) Holly Smith et al.   HUMAN MUTATION

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

(2011) Walter HA Kahr et al.   NATURE GENETICS

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

(2011) Cornelis A Albers et al.   NATURE GENETICS

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

(2011) Meral Gunay-Aygun et al.   NATURE GENETICS

Platelets, inflammation and tissue regeneration

(2011) Alan Nurden   THROMBOSIS AND HAEMOSTASIS

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

(2010) M. Gunay-Aygun et al.   BLOOD

Evidence that Growth factor independence 1b regulates dormancy and peripheral blood mobilization of hematopoietic stem cells

(2010) C. Khandanpour et al.   BLOOD

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols