|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia.
|
10233432 |
1999 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
BEFREE |
We have been studying two populations having an unusually high frequency of Glanzmann disease, Iraqi Jews and Arabs living in Israel, and were able to distinguish the populations on the basis of immunodetectable GPIIIa and platelet surface vitronectin receptor (alpha v beta 3) expression.
|
2014236 |
1991 |
|
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 |
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 |
Biomarker
|
disease |
CLINGEN |
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 |
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 |
Application of GPIIIa gene Taq I polymorphism to determination of carrier status in Glanzmann's thrombasthenia families of Chinese origin.
|
8095357 |
1993 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
BEFREE |
We have used cDNA probes to analyze the GPIIb and GPIIIa genes in four patients from three kindreds with Glanzmann's thrombasthenia.
|
1967954 |
1990 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
CTD_human |
A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg----214Trp mutation.
|
1602006 |
1992 |
|
Thrombasthenia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Thus, for determining which gene is mutated in a GT patient, EBV-transformed B-lymphocytes are useful and can as well be used for analyses of GPIIIa mRNA and genomic DNA.
|
9493569 |
1998 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Therapeutic expression of the platelet-specific integrin, alphaIIbbeta3, in a murine model for Glanzmann thrombasthenia.
|
15972454 |
2005 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients.
|
15748237 |
2005 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
BEFREE |
The lack of surface platelet GPIIb-IIIa complexes and the presence of GPIIIa suggested it was a case of type I Glanzmann's thrombasthenia due to a mutation in GPIIb.
|
12008952 |
2002 |
|
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 |
UNIPROT |
A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site.
|
1371279 |
1992 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We have been studying two populations having an unusually high frequency of Glanzmann disease, Iraqi Jews and Arabs living in Israel, and were able to distinguish the populations on the basis of immunodetectable GPIIIa and platelet surface vitronectin receptor (alpha v beta 3) expression.
|
2014236 |
1991 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
GeneticVariation
|
disease |
LHGDN |
A novel 196Leu to Pro substitution in the beta3 subunit of the alphaIIbbeta3 integrin in a patient with a variant form of Glanzmann thrombasthenia.
|
11897046 |
2002 |
|
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 |
UNIPROT |
A variant thrombasthenic phenotype associated with compound heterozygosity of integrin beta3-subunit: (Met124Val)beta3 alters the subunit dimerization rendering a decreased number of constitutive active alphaIIbbeta3 receptors.
|
15583747 |
2004 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Analysis of platelet membrane glycoprotein polymorphisms in Glanzmann thrombasthenia showed the French gypsy mutation in the alphaIIb gene to be strongly linked to the HPA-1b polymorphism in beta3.
|
12871468 |
2003 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|