αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum

A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction

(2018) Naohiro Miyashita et al.   ANNALS OF HEMATOLOGY

Validation of flow cytometric analysis of platelet function in patients with a suspected platelet function defect

(2018) I. van Asten et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Standardization and reference ranges for whole blood platelet function measurements using a flow cytometric platelet activation test

(2018) Dana Huskens et al.   PLoS One

Toward Flow Cytometry Based Platelet Function Diagnostics

(2018) Ivar van Asten et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Thrombocytopenia in Pregnancy: Mechanisms and Management

(2018) Annemarie E. Fogerty   TRANSFUSION MEDICINE REVIEWS

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

(2017) José M. Bastida et al.   HAEMATOLOGICA

Platelet function investigation by flow cytometry: Sample volume, needle size, and reference intervals

(2017) Oliver Heidmann Pedersen et al.   PLATELETS

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

(2017) José M. Bastida et al.   HAEMATOLOGICA

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

(2016) B. Johnson et al.   HAEMATOLOGICA

Inherited thrombocytopenias—recent advances in clinical and molecular aspects

(2016) Carlo L. Balduini et al.   PLATELETS

Inherited Platelet Function Disorders: Algorithms for Phenotypic and Genetic Investigation

(2016) Loredana Bury et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

(2016) B. Johnson et al.   HAEMATOLOGICA

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

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

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

Normal range of bleeding scores for the ISTH-BAT: adult and pediatric data from the merging project

(2014) M. Elbatarny et al.   HAEMOPHILIA

On the Activation of Integrin αIIbβ3: Outside-in and Inside-out Pathways

(2013) Mehrdad Mehrbod et al.   BIOPHYSICAL JOURNAL

Talins and kindlins: partners in integrin-mediated adhesion

(2013) David A. Calderwood et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

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

(2012) Loredana Bury et al.   PLoS One

Heterozygous ITGA2B R995W mutation inducing constitutive activation of the  IIb 3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia

(2011) S. Kunishima et al.   BLOOD

Molecular mechanism of inside-out integrin regulation

(2011) F. YE et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Glanzmann Thrombasthenia-Like Syndromes Associated with Macrothrombocytopenias and Mutations in the Genes Encoding the αIIbβ3 Integrin

(2011) Alan Nurden et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

The tail of integrin activation

(2011) Nicholas J. Anthis et al.   TRENDS IN BIOCHEMICAL SCIENCES

Integrin Structure, Activation, and Interactions

(2011) I. D. Campbell et al.   Cold Spring Harbor Perspectives in Biology

L718P mutation in the membrane-proximal cytoplasmic tail of  3 promotes abnormal  IIb 3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype

(2010) A. Jayo et al.   HAEMATOLOGICA

ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders

(2010) F. RODEGHIERO et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Megakaryopoiesis

(2010) Amy E. Geddis   SEMINARS IN HEMATOLOGY

Platelet Formation

(2010) Jonathan N. Thon et al.   SEMINARS IN HEMATOLOGY

Structural basis of transmembrane domain interactions in integrin signaling

(2010) Tobias S. Ulmer   Cell Adhesion & Migration

Interactions of platelet integrin αΙΙband β3transmembrane domains in mammalian cell membranes and their role in integrin activation

(2009) Chungho Kim et al.   BLOOD

The structure of an integrin/talin complex reveals the basis of inside-out signal transduction

(2009) Nicholas J Anthis et al.   EMBO JOURNAL

The structure of the integrin αIIbβ3 transmembrane complex explains integrin transmembrane signalling

(2009) Tong-Lay Lau et al.   EMBO JOURNAL

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

Integrin signalling at a glance

(2009) D. S. Harburger et al.   JOURNAL OF CELL SCIENCE

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

A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the  IIb 3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia

(2007) C. Ghevaert et al.   BLOOD