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

Recognition of highly restricted regions in the  -propeller domain of  IIb by platelet-associated anti- IIb 3 autoantibodies in primary immune thrombocytopenia

(2012) K. Kiyomizu et al.   BLOOD

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

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

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

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Structural basis of transmembrane domain interactions in integrin signaling

(2010) Tobias S. Ulmer   Cell Adhesion & Migration

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

Overexpression of the partially activated αIIbβ3D723H integrin salt bridge mutant downregulates RhoA activity and induces microtubule-dependent proplatelet-like extensions in Chinese hamster ovary cells

(2009) E. SCHAFFNER-RECKINGER et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

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