Inherited disorders of platelet function: selected updates

Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of theITGA2BandITGB3Genes in a Large International Cohort

(2015) Alan T. Nurden et al.   HUMAN MUTATION

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

(2015) Sarah K Westbury et al.   Genome Medicine

Direct Interaction of Kindlin-3 With Integrin αIIbβ3 in Platelets Is Required for Supporting Arterial Thrombosis in Mice

(2014) Zhen Xu et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

A systems approach to hemostasis: 3. Thrombus consolidation regulates intrathrombus solute transport and local thrombin activity

(2014) T. J. Stalker et al.   BLOOD

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

(2014) V. T. Manchev et al.   BLOOD

Common variants in the human platelet PAR4 thrombin receptor alter platelet function and differ by race

(2014) L. C. Edelstein et al.   BLOOD

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

(2014) J. A. Guerrero et al.   BLOOD

Platelet 12-LOX is essential for Fc RIIa-mediated platelet activation

(2014) J. Yeung et al.   BLOOD

The contribution of platelet studies to the understanding of disease mechanisms in complex and monogenetic neurological disorders

(2014) Christophe Goubau et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Spectrum of the Mutations in Bernard-Soulier Syndrome

(2014) Anna Savoia et al.   HUMAN MUTATION

A Dominant STIM1 Mutation Causes Stormorken Syndrome

(2014) Doriana Misceo et al.   HUMAN MUTATION

Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding

(2014) Matthias Canault et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A novel mutation in the P2Y12receptor and a function-reducing polymorphism in protease-activated receptor 1 in a patient with chronic bleeding

(2014) Y. M. Patel et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Mechanisms underlying platelet function defect in a pedigree with familial platelet disorder with a predisposition to acute myelogenous leukemia: potential role for candidate RUNX1 targets

(2014) A. C. Glembotsky et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

(2014) V. Nesin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of platelet function defects by multi-parameter assessment of thrombus formation

(2014) Susanne M. de Witt et al.   Nature Communications

Megakaryocyte-specific Profilin1-deficiency alters microtubule stability and causes a Wiskott–Aldrich syndrome-like platelet defect

(2014) Markus Bender et al.   Nature Communications

Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders

(2014) Béatrice Saposnik et al.   Molecular Genetics & Genomic Medicine

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

(2013) W. H. A. Kahr et al.   BLOOD

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

(2013) J. Stockley et al.   BLOOD

Both TMEM16F-dependent and TMEM16F-independent pathways contribute to phosphatidylserine exposure in platelet apoptosis and platelet activation

(2013) R. van Kruchten et al.   BLOOD

Congenital platelet disorders and understanding of platelet function

(2013) Alan T. Nurden et al.   BRITISH JOURNAL OF HAEMATOLOGY

Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes

(2013) K. Tornieri et al.   HUMAN MOLECULAR GENETICS

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

C560Rβ3caused platelet integrin αIIbβ3to bind fibrinogen continuously, but resulted in a severe bleeding syndrome and increased murine mortality

(2013) J. Fang et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Genotyping and phenotyping of platelet function disorders

(2013) S. P. Watson 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

Molecular Dynamics Analysis of a Novel β3 Pro189Ser Mutation in a Patient with Glanzmann Thrombasthenia Differentially Affecting αIIbβ3 and αvβ3 Expression

(2013) Michel Laguerre et al.   PLoS One

Glanzmann Thrombasthenia: State of the Art and Future Directions

(2013) Xavier Pillois et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype

(2013) Hirokazu Kashiwagi et al.   Molecular Genetics & Genomic Medicine

Heterogeneity of Platelet Functional Alterations in Patients With Filamin A Mutations

(2012) Eliane Berrou et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet  -granule biogenesis

(2012) D. Urban et al.   BLOOD

Dysmegakaryopoiesis of FPD/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression

(2012) D. Bluteau et al.   BLOOD

Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis

(2012) Yoshiyuki Kobayashi et al.   BRITISH JOURNAL OF HAEMATOLOGY

TMEM16F Forms a Ca2+-Activated Cation Channel Required for Lipid Scrambling in Platelets during Blood Coagulation

(2012) Huanghe Yang et al.   CELL

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

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

(2012) Gaetana Lanzi et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Outside-In Signalling Generated by a Constitutively Activated Integrin αIIbβ3 Impairs Proplatelet Formation in Human Megakaryocytes

(2012) Loredana Bury et al.   PLoS One

Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models

(2011) A. T. Nurden et al.   BLOOD

Defects in Glanzmann thrombasthenia and LAD-III (LAD-1/v) syndrome: the role of integrin  1 and  3 in platelet adhesion to collagen

(2011) E. van de Vijver et al.   BLOOD

A Novel Leukocyte Adhesion Deficiency III Variant: Kindlin-3 Deficiency Results in Integrin- and Nonintegrin-Related Defects in Different Steps of Leukocyte Adhesion

(2011) P. Robert et al.   JOURNAL OF IMMUNOLOGY

A mutation in the β3 cytoplasmic tail causes variant Glanzmann thrombasthenia by abrogating transition of αIIbβ3 to an active state

(2011) H. HAUSCHNER et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene

(2009) A. D. Paterson et al.   BLOOD

Structure of an integrin  IIb 3 transmembrane-cytoplasmic heterocomplex provides insight into integrin activation

(2009) J. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Kindlin-3 is essential for integrin activation and platelet aggregation

(2008) Markus Moser et al.   NATURE MEDICINE