αIIbβ3 integrin: new allelic variants in Glanzmann thrombasthenia, effects onITGA2BandITGB3mRNA splicing, expression, and structure-function-Reference-Cited by-同舟云学术

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

Published:2010-03 Issue:3 Volume:31 Page:237-246
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Jallu Vincent,Dusseaux Mathilde,Panzer Simon,Torchet Marie-Françoise,Hezard Nathalie,Goudemand Jenny,de Brevern Alexandre G.,Kaplan Cécile

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference54 articles.

1. A spontaneous mutation of integrin αIIbβ3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site;Bajt;J Biol Chem,1992

2. A Leu117→Trp mutation within the RGD-peptide cross-linking region of β3 results in Glanzmann thrombasthenia by preventing αIIbβ3 export to the platelet surface;Basani;Blood,1997

3. A naturally occurring mutation near the amino terminus of αIIb defines a new region involved in ligand binding to αIIbβ3;Basani;Blood,2000

4. Finding the genes in genomic DNA;Burge;Curr Opin Struct Biol,1998

5. Glanzmann thrombasthenia;Caen;J Clin Invest,1972

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1. Analysis of Integrin αIIb Subunit Dynamics Reveals Long-Range Effects of Missense Mutations on Calf Domains;International Journal of Molecular Sciences;2022-01-13

2. Spectrum of Non-Traumatic Bleeding Complaints among women with Bleeding Disorders;Pakistan Journal of Medical and Health Sciences;2021-09-30

3. New αIIbβ3 variants in 28 Turkish Glanzmann patients; Structural hypothesis for complex activation by residues variations in I-EGF domains;Platelets;2021-07-19

4. Profiling the Genetic and Molecular Characteristics of Glanzmann Thrombasthenia: Can It Guide Current and Future Therapies?;Journal of Blood Medicine;2021-07

5. Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees;International Journal of Laboratory Hematology;2020-06-19

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