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

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

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

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

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

Three-dimensional reconstruction of intact human integrin  IIb 3: new implications for activation-dependent ligand binding

(2013) W.-S. Choi et al.   BLOOD

The Interaction of Integrin αIIbβ3with Fibrin Occurs through Multiple Binding Sites in the αIIbβ-Propeller Domain

(2013) Nataly P. Podolnikova et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Complete integrin headpiece opening in eight steps

(2013) Jieqing Zhu et al.   JOURNAL OF CELL BIOLOGY

Glanzmann Thrombasthenia: State of the Art and Future Directions

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

Low-frequency human platelet antigens as triggers for neonatal alloimmune thrombocytopenia

(2013) Julie A. Peterson et al.   TRANSFUSION

Human platelet antigens - 2013

(2013) B. R. Curtis et al.   VOX SANGUINIS

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

(2012) M. FIORE et al.   HAEMOPHILIA

Unique Disulfide Bonds in Epidermal Growth Factor (EGF) Domains of β3 Affect Structure and Function of αIIbβ3 and αvβ3 Integrins in Different Manner

(2012) Ronit Mor-Cohen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A novel amino acid substitution of integrin αIIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining β-propeller structure

(2012) Xavier Pillois et al.   PLATELETS

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

Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families

(2011) Mathieu Fiore et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Intact αIIbβ3Integrin Is Extended after Activation as Measured by Solution X-ray Scattering and Electron Microscopy

(2011) Edward T. Eng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

An αIIb mutation in patients with Glanzmann thrombasthenia located in the N-terminus of blade 1 of the β-propeller (Asn2Asp) disrupts a calcium binding site in blade 6

(2010) W. MANSOUR et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

αIIbβ3 integrin: new allelic variants in Glanzmann thrombasthenia, effects onITGA2BandITGB3mRNA splicing, expression, and structure-function

(2009) Vincent Jallu et al.   HUMAN MUTATION

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

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

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

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