Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia.
|
31088191 |
2020 |
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sanger sequencing of DNA from the propositus identified 2 heterozygous ITGB3 gene mutations: p.P189S and p.C210S both of which prevent αIIbβ3 expression and are causative of GT but without explaining the presence of enlarged platelets.
|
31565851 |
2019 |
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In contrast to the inherited platelet disorder given by mutations in the ITGA2B and ITGB3 genes, mucocutaneous bleeding from a spontaneous inhibition of normally expressed αIIbβ3 characterizes acquired Glanzmann thrombasthenia (GT).
|
31010659 |
2019 |
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Sanger sequencing of ITGA2B and ITGB3 in the index case followed by in silico modeling of all known GT-causing missense mutations extending from the lower part of the β-propeller, and through the thigh and upper calf-1 domains.
|
29385657 |
2018 |
Thrombasthenia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We developed a panel of 14 platelet-specific metal-tagged antibodies (targeting cluster of differentiation [CD] 9, CD29, CD31, CD36, CD41, CD42a, CD42b, CD61, CD62P, CD63, CD107a, CD154, glycoprotein [GP] VI and activated integrin αIIbβ3) and compared this panel with two fluorescence flow cytometry (FFC) panels (CD41, CD42b, and CD61; or CD42b, CD62P, and activated integrin αIIbβ3) in the evaluation of activation-dependent changes in glycoprotein expression on healthy subject and Glanzmann thrombasthenia (GT) platelets.
|
29985398 |
2018 |
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Furthermore, it suggested ITGB3 as the mainly affected gene impaired in the patients with Glanzmann's thrombasthenia.
|
29084015 |
2017 |
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Furthermore, it suggested ITGB3 as the mainly affected gene impaired in the patients with Glanzmann's thrombasthenia.
|
29084015 |
2017 |
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Twenty four (47%) patients of GT were classified as type I (as CD41/CD61 were virtually absent, <5%), six (11.8%) patients as type II (5-20% CD41/CD61) and 21 (41.2%) as type III or GT variants as they had near normal levels of CD41 and CD61.
|
28948953 |
2017 |
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition to mutations in ITG2B or ITGB3 genes that cause defective αIIbβ3 expression and/or function in Glanzmann's thrombasthenia patients, platelet dysfunction can be a result of genetic variability in proteins that mediate inside-out activation of αIIbβ3 The RASGRP2 gene is strongly expressed in platelets and neutrophils, where its encoded protein CalDAG-GEFI facilitates the activation of Rap1 and subsequent activation of integrins.
|
27235135 |
2016 |
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent.
|
27469266 |
2016 |
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ITGA2B or ITGB3 genes that encode for the αIIbβ3 platelet integrin usually cause Glanzmann thrombasthenia, a severe autosomal recessive bleeding disorder characterized by absence of platelet aggregation, but normal platelet number and size.
|
25806962 |
2015 |
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.
|
25728920 |
2015 |
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Homozygous or compound heterozygous mutations in ITGA2B or ITGB3 were identified as causing GT by sequencing of genomic DNA.
|
25373348 |
2015 |
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mutations in ITGA2B and ITGB3 cause Glanzmann thrombasthenia, an inherited bleeding disorder in which platelets fail to aggregate when stimulated.
|
24236036 |
2013 |
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ITGA2B and ITGB3 cause Glanzmann thrombasthenia, an inherited bleeding disorder in which platelets fail to aggregate when stimulated.
|
24236036 |
2013 |
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although from a limited number of patients, these results suggests c.1913+5G>T of ITGB3 is a recurrent mutation in Korean patients with GT.
|
22190468 |
2012 |
Thrombasthenia
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Transmitted by autosomal recessive inheritance, platelets in GT have quantitative or qualitative deficiencies of the fibrinogen receptor, αIIbβ3, an integrin coded by the ITGA2B and ITGB3 genes.
|
21917754 |
2011 |
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glanzmann thrombasthenia (GT) is the most widely studied inherited disorder of platelets; it is caused by the absence of platelet aggregation due to quantitative and/or qualitative deficiencies of the αIIbβ3 integrin coded by the ITGA2B and ITGB3 genes located at 17q21-23.
|
22102273 |
2011 |
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations?
|
21557682 |
2011 |
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.
|
20020534 |
2010 |
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glanzmann thrombasthenia (GT) is an autosomal recessive inherited bleeding disorder characterized by an impaired platelet aggregation due to defects in integrin alphaIIbbeta3 (ITGA2B, ITGB3), a fibrinogen receptor.
|
20020534 |
2010 |
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.
|
20020534 |
2010 |
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.
|
20020534 |
2010 |
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Homozygous or compound heterozygous mutations in the genes of GPIIb and GPIIIa lead to GT.
|
18930954 |
2009 |
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia.
|
19691478 |
2009 |