Challenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?

Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency

(2017) G. F. Mao et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

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

(2016) Alan T. Nurden et al.   AMERICAN JOURNAL OF HEMATOLOGY

Mechanisms of platelet-mediated liver regeneration

(2016) T. Lisman et al.   BLOOD

Respective contributions of single and compound granule fusion to secretion by activated platelets

(2016) Anita Eckly et al.   BLOOD

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

(2016) I. Simeoni et al.   BLOOD

Inherited platelet disorders: toward DNA-based diagnosis

(2016) C. Lentaigne et al.   BLOOD

Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management

(2016) Tadbir K. Bariana et al.   BRITISH JOURNAL OF HAEMATOLOGY

P2Y12 Receptor Antagonists: Which One to Choose? A Systematic Review and Meta-Analysis

(2016) Alexandros Briasoulis et al.   CURRENT PHARMACEUTICAL DESIGN

A diagnostic approach to mild bleeding disorders

(2016) J. Boender et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders

(2016) Veronique Latger-Cannard et al.   Orphanet Journal of Rare Diseases

Role of G protein signaling in the formation of the fibrin(ogen)–integrin αIIbβ3–actin cytoskeleton complex in platelets

(2016) Ivan Budnik et al.   PLATELETS

Inherited platelet dysfunction and hematopoietic transcription factor mutations

(2016) Natthapol Songdej et al.   PLATELETS

Storage pool diseases illuminate platelet dense granule biogenesis

(2016) Andrea L. Ambrosio et al.   PLATELETS

New Insights Into the Treatment of Glanzmann Thrombasthenia

(2016) Man-Chiu Poon et al.   TRANSFUSION MEDICINE REVIEWS

NF-E2, FLI1 and RUNX1 collaborate at areas of dynamic chromatin to activate transcription in mature mouse megakaryocytes

(2016) Chongzhi Zang et al.   Scientific Reports

Signaling-mediated cooperativity between glycoprotein Ib-IX and protease-activated receptors in thrombin-induced platelet activation

(2015) B. Estevez et al.   BLOOD

Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1

(2015) W. S. Stevenson et al.   BLOOD

Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome

(2015) Hagit Hauschner et al.   BLOOD COAGULATION & FIBRINOLYSIS

Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations

(2015) A. Haghighi et al.   CLINICAL GENETICS

Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia

(2015) L. Bury et al.   HAEMATOLOGICA

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

Platelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation

(2015) Jiaming Li et al.   Journal of Hematology & Oncology

Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders

(2015) V. C. Leo et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH

(2015) P. Gresele et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Remote platelet function testing – Significant progress towards widespread testing in clinical practice

(2015) Natalia Dovlatova et al.   PLATELETS

αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia

(2015) Lorena Buitrago et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A review of platelet secretion assays for the diagnosis of inherited platelet secretion disorders

(2015) Andrew D. Mumford et al.   THROMBOSIS AND HAEMOSTASIS

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

Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia

(2015) L. Bury et al.   HAEMATOLOGICA

A systems approach to hemostasis: 1. The interdependence of thrombus architecture and agonist movements in the gaps between platelets

(2014) J. D. Welsh et al.   BLOOD

Myosin-II repression favors pre/proplatelets but shear activation generates platelets and fails in macrothrombocytopenia

(2014) K. R. Spinler et al.   BLOOD

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

(2014) P. Noris et al.   BLOOD

Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay

(2014) M. Lordkipanidze et al.   BLOOD

What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?

(2014) Martina E. Daly et al.   BRITISH JOURNAL OF HAEMATOLOGY

Spectrum of the Mutations in Bernard-Soulier Syndrome

(2014) Anna Savoia et al.   HUMAN MUTATION

Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey

(2014) P. Gresele et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study

(2014) Isabel Sánchez-Guiu et al.   Orphanet Journal of Rare Diseases

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

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

Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study

(2013) Patrizia Noris et al.   BRITISH JOURNAL OF HAEMATOLOGY

Platelet function beyond hemostasis and thrombosis

(2013) Jerry Ware et al.   CURRENT OPINION IN HEMATOLOGY

MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations

(2013) Alessandro Pecci et al.   HUMAN MUTATION

Recommendations for the standardization of light transmission aggregometry: a consensus of the working party from the platelet physiology subcommittee of SSC/ISTH

(2013) M. Cattaneo et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

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

Distinct and redundant roles of the non-muscle myosin II isoforms and functional domains

(2012) Aibing Wang et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel

(2012) B. B. Dawood 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

MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations

(2012) I. Antony-Debre et al.   BLOOD

Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients

(2012) M. FIORE et al.   HAEMOPHILIA

Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment

(2012) Alan T Nurden et al.   Expert Review of Hematology

Diagnostic Usefulness of a Lumi-Aggregometer Adenosine Triphosphate Release Assay for the Assessment of Platelet Function Disorders

(2011) Menaka Pai et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Platelet Protein Kinase C-θ Deficiency With Human RUNX1 Mutation

(2011) Gauthami Jalagadugula et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

GPIb  regulates platelet size by controlling the subcellular localization of filamin

(2011) T. Kanaji et al.   BLOOD

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

Guidelines for the laboratory investigation of heritable disorders of platelet function

(2011) Paul Harrison et al.   BRITISH JOURNAL OF HAEMATOLOGY

The Influence of Low Platelet Count on Whole Blood Aggregometry Assessed by Multiplate

(2011) Trine Stissing et al.   CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS

Genome-wide Analysis of Simultaneous GATA1/2, RUNX1, FLI1, and SCL Binding in Megakaryocytes Identifies Hematopoietic Regulators

(2011) Marloes R. Tijssen et al.   DEVELOPMENTAL CELL

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb  (Bolzano mutation)

(2011) P. Noris et al.   HAEMATOLOGICA

Platelet disorders in children: A diagnostic approach

(2011) Sara J. Israels et al.   PEDIATRIC BLOOD & CANCER

Development of North American Consensus Guidelines for Medical Laboratories That Perform and Interpret Platelet Function Testing Using Light Transmission Aggregometry

(2010) Catherine P.M. Hayward et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

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

(2010) M. Gunay-Aygun et al.   BLOOD

RUNX1/core binding factor A2 regulates platelet 12-lipoxygenase gene (ALOX12): studies in human RUNX1 haplodeficiency

(2010) G. Kaur et al.   BLOOD

Regulation of platelet myosin light chain (MYL9) by RUNX1: implications for thrombocytopenia and platelet dysfunction in RUNX1 haplodeficiency

(2010) G. Jalagadugula et al.   BLOOD

Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations

(2010) A. Savoia et al.   HAEMATOLOGICA

A novel interaction between FlnA and Syk regulates platelet ITAM-mediated receptor signaling and function

(2010) Hervé Falet et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mechanism of platelet factor 4 (PF4) deficiency with RUNX1 haplodeficiency: RUNX1 is a transcriptional regulator of PF4

(2010) K. ANEJA et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Thrombocytopenia in Mice Lacking the Carboxy-Terminal Regulatory Domain of the Ets Transcription Factor Fli1

(2010) O. Moussa et al.   MOLECULAR AND CELLULAR BIOLOGY

The irreversibility of platelet aggregation is regulated by myosin IIA, but is not compromised in MYH9-related disease

(2010) Silvia Catricalà et al.   THROMBOSIS RESEARCH

Diagnosis of mild platelet function disorders. Reliability and usefulness of light transmission platelet aggregation and serotonin secretion assays

(2009) Teresa Quiroga et al.   BRITISH JOURNAL OF HAEMATOLOGY

Dominant inheritance of a novel integrin  3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families

(2009) P. Gresele et al.   HAEMATOLOGICA

Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia

(2009) M. KANNAN et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Diagnostic utility of light transmission platelet aggregometry: results from a prospective study of individuals referred for bleeding disorder assessments

(2009) C. P. M. HAYWARD et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Non-muscle myosin II takes centre stage in cell adhesion and migration

(2009) Miguel Vicente-Manzanares et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The GPIIb/IIIa (integrin  IIb 3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend

(2008) B. S. Coller et al.   BLOOD

Novel point mutation in a leucine-rich repeat of the GPIb  chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant

(2008) S. Vettore et al.   HAEMATOLOGICA