Profiling the Genetic and Molecular Characteristics of Glanzmann Thrombasthenia: Can It Guide Current and Future Therapies?

Inherited thrombocytopenias: history, advances and perspectives

(2020) Alan T. Nurden et al.   HAEMATOLOGICA

Strengths and limitations of high‐throughput sequencing for the diagnosis of inherited bleeding and platelet disorders

(2020) Fabienne Ver Donck et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Immunization against α IIb β 3 and α v β 3 in Glanzmann thrombasthenia patients carrying the French Gypsy mutation

(2020) Mathieu Fiore et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Nonredundant Roles of Platelet Glycoprotein VI and Integrin αIIbβ3 in Fibrin-Mediated Microthrombus Formation

(2020) Gina Perrella et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

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

(2020) Sara Morais et al.   PLoS One

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients

(2019) Tarek Owaidah et al.   npj Genomic Medicine

Curated disease‐causing genes for bleeding, thrombotic and platelet disorders: communication from the SSC of the ISTH

(2019) Karyn Megy et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Clinical significance of altered collagen-receptor functioning in platelets with emphasis on glycoprotein VI

(2019) Alan T. Nurden   BLOOD REVIEWS

A Glanzmann thrombasthenia family associated with a TUBB 1 ‐related macrothrombocytopenia

(2019) Benoit Guillet et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

A rare case of Glanzmann's thrombasthenia and factor VII deficiency due to a combination of pathogenic and non‐pathogenic gene variants

(2019) Rutuja Deshpande et al.   HAEMOPHILIA

Clinical and molecular insights into Glanzmann's thrombasthenia in China

(2018) L. Zhou et al.   CLINICAL GENETICS

Acquired Antibodies to α IIbβ3 in Glanzmann Thrombasthenia: From Transfusion and Pregnancy to Bone Marrow Transplants and Beyond

(2018) Alan T. Nurden   TRANSFUSION MEDICINE REVIEWS

In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia

(2018) Xavier Pillois et al.   Molecular Genetics & Genomic Medicine

Mass Cytometry Reveals Distinct Platelet Subtypes in Healthy Subjects and Novel Alterations in Surface Glycoproteins in Glanzmann Thrombasthenia

(2018) Thomas A. Blair et al.   Scientific Reports

ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia

(2017) Alan T. Nurden et al.   PLATELETS

Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression

(2017) Liang Hu et al.   Stem Cell Research

Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B

(2017) Stefan Loroch et al.   THROMBOSIS AND HAEMOSTASIS

In silico analysis of Glanzmann variants of Calf-1 domain of αIIbβ3 integrin revealed dynamic allosteric effect

(2017) Matthieu Goguet et al.   Scientific Reports

Antiendothelial αvβ3 Antibodies Are a Major Cause of Intracranial Bleeding in Fetal/Neonatal Alloimmune ThrombocytopeniaHighlights

(2016) Sentot Santoso et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Linkage disequilibrium amongstITGA2BandITGB3gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent

(2016) Xavier Pillois et al.   BRITISH JOURNAL OF HAEMATOLOGY

New Insights Into the Treatment of Glanzmann Thrombasthenia

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

CRISPR/Cas9-mediated conversion of human platelet alloantigen allotypes

(2015) N. Zhang et al.   BLOOD

Platelet glycoprotein VI binds to polymerized fibrin and promotes thrombin generation

(2015) E. Mammadova-Bach et al.   BLOOD

Fibrin activates GPVI in human and mouse platelets

(2015) O. M. Alshehri et al.   BLOOD

The international prospective Glanzmann Thrombasthenia Registry: treatment modalities and outcomes in non-surgical bleeding episodes in Glanzmann thrombasthenia patients

(2015) G. Di Minno 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

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

Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations

(2015) Kirstin Sandrock-Lang et al.   THROMBOSIS AND HAEMOSTASIS

The international prospective Glanzmann Thrombasthenia Registry: treatment modalities and outcomes in non-surgical bleeding episodes in Glanzmann thrombasthenia patients

(2015) G. Di Minno et al.   HAEMATOLOGICA

A novel flow cytometry-based platelet aggregation assay

(2013) I. M. De Cuyper et al.   BLOOD

Different biochemical expression pattern of platelet surface glycoproteins suggests molecular diversity of Glanzmannʼs thrombasthenia in Iran

(2013) Alireza Farsinejad et al.   BLOOD COAGULATION & FIBRINOLYSIS

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

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

(2012) M. FIORE et al.   HAEMOPHILIA

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

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

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

Platelet gene therapy improves hemostatic function for integrin  IIb 3-deficient dogs

(2011) J. Fang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

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

(2009) Vincent Jallu et al.   HUMAN MUTATION

The Novel S527F Mutation in the Integrin β3 Chain Induces a High Affinity αIIbβ3 Receptor by Hindering Adoption of the Bent Conformation

(2009) Karen Vanhoorelbeke et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

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

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