Thrombasthenia
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We analyzed the expression of GPIIb/IIIa and the gene sequencing in two pedigrees with GT, so as to determine the type and the relationship between genotype and clinical phenotype.
|
31088191 |
2020 |
Thrombasthenia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
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.
|
29385657 |
2018 |
Thrombasthenia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We diagnosed a pathogenic Glanzmann thrombasthenia mutation in ITGA2B screened by DHPLC that appears to be specific to individuals of Tunisian heritage and that deserves to be investigated in first intention.
|
30325339 |
2018 |
Thrombasthenia
|
0.800 |
Biomarker
|
disease |
BEFREE |
As expected, MC and FFC revealed that GT platelets had significantly reduced CD41, CD61, and activated integrin αIIbβ3 surface expression.
|
29985398 |
2018 |
Thrombasthenia
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Type I GT was found most common in our patients and with lowered mean CD41 expression in comparison with CD61.
|
28948953 |
2017 |
Thrombasthenia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study reported three novel mutations expanding the genotypic spectrum of ITGA2B causing GT.
|
28888044 |
2017 |
Thrombasthenia
|
0.800 |
Biomarker
|
disease |
BEFREE |
: Quantitative and/or qualitative defects of the platelet membrane glycoprotein IIb/IIIa complex lead to the clinical entity of Glanzmann's thrombasthenia.
|
29084015 |
2017 |
Thrombasthenia
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Forty children with GT were assessed for the expression of GPIIb-IIIa on the platelet surface and platelet antibodies by using flow cytometry, to determine the most common GT subtypes among Egyptian children.
|
28161816 |
2017 |
Thrombasthenia
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Moreover, exogenous expression of the wild-type ITGA2B gene in GT-iPS platelets restored CD41 expression and normal platelet aggregation.
|
28232155 |
2017 |
Thrombasthenia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A series of haplogroups, often including HPA-3b in ITGA2B, repeated with little variation across unrelated families of wide geographical origins and with different GT-causing mutations whether in ITGA2B or ITGB3.
|
27469266 |
2016 |
Thrombasthenia
|
0.800 |
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
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations of integrin αIIb and β3 genes in Turkish children with Glanzmann's thrombasthenia.
|
25734216 |
2015 |
Thrombasthenia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We now report a Catalan family where type I GT is given by compound heterozygosity within ITGA2B with a Gly13Val substitution in αIIb associated with a 13 bp deletion involving the splice site of exon 15.
|
22394243 |
2013 |
Thrombasthenia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
One patient, who showed Glanzmann thrombasthenia-like marked reduction in surface αIIbβ3 expression (3-11% of normal control), was a compound heterozygote with ITGA2B p.Gly991Cys and a novel nonsense mutation, ITGA2B p.Arg422*.
|
24498605 |
2013 |
Thrombasthenia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia.
|
22190468 |
2012 |
Thrombasthenia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Antibody screening was performed on a large series of 24 GT patients in South-West France dividing the patients into two cohorts: (i) 16 patients with the French gypsy mutation (c.1544 + 1G>A) within ITGA2B that gives platelets totally lacking αIIbβ3 and (ii) 8 patients carrying other defects of ITGA2B or ITGB3 with different expression levels of αIIbβ3.
|
22250950 |
2012 |
Thrombasthenia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia.
|
22190468 |
2012 |
Thrombasthenia
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the detailed analysis of the results of our investigation, 95 out of 123 (77.5%) were classified as type I; 20 (16%) as type II with residual GPIIb-IIIa, and eight (6.5%) as GT variants.
|
21526886 |
2011 |
Thrombasthenia
|
0.800 |
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
|
0.800 |
Biomarker
|
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
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of compound heterozygous mutations in the ITGA2B gene in a Chinese patient with Glanzmann thrombasthenia.
|
20819594 |
2010 |