|
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 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
GeneticVariation
|
disease |
UNIPROT |
A Leu117-->Trp mutation within the RGD-peptide cross-linking region of beta3 results in Glanzmann thrombasthenia by preventing alphaIIb beta3 export to the platelet surface.
|
9376589 |
1997 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions.
|
18832906 |
2008 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Ser-752-->Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia.
|
1438206 |
1992 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families.
|
19336737 |
2009 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin beta3 gene as a cause of the absence of platelet alphaIIbbeta3 in Glanzmann's thrombasthenia.
|
15634267 |
2005 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Beta3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival.
|
9916135 |
1999 |
|
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 |
UNIPROT |
A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (alphaIIbbeta3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia-like phenotype.
|
11588040 |
2001 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Megakaryocyte-targeted synthesis of the integrin beta(3)-subunit results in the phenotypic correction of Glanzmann thrombasthenia.
|
10845892 |
2000 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients.
|
15748237 |
2005 |
|
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 |
BEFREE |
Truncation of glycoprotein (GP) IIIa (616-762) prevents complex formation with GPIIb: novel mutation in exon 11 of GPIIIa associated with thrombasthenia.
|
9845537 |
1998 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Glanzmann's thrombasthenia due to a point mutation within intron 10 results in aberrant splicing of the beta3 gene.
|
14629479 |
2003 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a new mutation in the GPIIIa gene responsible for type I GT in a consanguineous Algerian family.
|
9226167 |
1997 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
AlphaIIbG236E causes Glanzmann thrombasthenia by impairing association with beta3.
|
18791937 |
2008 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
CTD_human |
A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site.
|
1371279 |
1992 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Disulfide bond disruption by a beta 3-Cys549Arg mutation in six Jordanian families with Glanzmann thrombasthenia causes diminished production of constitutively active alpha IIb beta 3.
|
18064323 |
2007 |
|
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 |
Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia.
|
10233432 |
1999 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Purification of glycoproteins IIb and III from human platelet plasma membranes and characterization of a calcium-dependent glycoprotein IIb-III complex.
|
6213621 |
1982 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Hematologically important mutations: Glanzmann thrombasthenia.
|
9215749 |
1997 |