Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.C549R
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ITGB3

NM_000212.3:p.C549R

Associated Papers

Clinical Characteristics and Molecular Genetic Analysis of a Pedigree with Glanzmann's Thrombasthenia.

Zhu Q et al.

Alternative Therapies in Health and Medicine, 2024

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

Nurden A

Journal of Blood Medicine, 2021

Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.

Ali T et al.

International Journal of Laboratory Hematology, 2020

Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia.

Lu Z et al.

Platelets, 2020

Acquired Antibodies to αIIbβ3 in Glanzmann Thrombasthenia: From Transfusion and Pregnancy to Bone Marrow Transplants and Beyond.

Nurden AT

Transfusion Medicine Reviews, 2018

Congenital platelet disorders and understanding of platelet function.

Nurden AT et al.

British Journal of Haematology, 2014

Glanzmann thrombasthenia: state of the art and future directions.

Nurden AT et al.

Seminars in Thrombosis and Hemostasis, 2013

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

Kashiwagi H et al.

Molecular Genetics & Genomic Medicine, 2013

C560Rβ3 caused platelet integrin αII b β3 to bind fibrinogen continuously, but resulted in a severe bleeding syndrome and increased murine mortality.

Fang J et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

Molecular dynamics analysis of a novel β3 Pro189Ser mutation in a patient with glanzmann thrombasthenia differentially affecting αIIbβ3 and αvβ3 expression.

Laguerre M et al.

Plos One, 2013

Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.

Nurden AT et al.

Expert Review of Hematology, 2012

Advances in our understanding of the molecular basis of disorders of platelet function.

Nurden A et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia.

Kunishima S et al.

Blood, 2011

Glanzmann thrombasthenia: an update.

Franchini M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."