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

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

Infusion of mature megakaryocytes into mice yields functional platelets

(2010) Rudy Fuentes et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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

Mutation of the  1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly

(2008) S. Kunishima et al.   BLOOD

Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders

(2008) S. Kunishima et al.   BLOOD

A new red fluorescent protein that allows efficient marking of murine hematopoietic stem cells

(2008) Seiko Sanuki et al.   JOURNAL OF GENE MEDICINE

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