|
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 |
A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions.
|
18832906 |
2008 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
AlphaIIbG236E causes Glanzmann thrombasthenia by impairing association with beta3.
|
18791937 |
2008 |
|
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 |
Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3).
|
16463284 |
2006 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients.
|
16879215 |
2006 |
|
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 |
AlteredExpression
|
disease |
LHGDN |
Type I Glanzmann thrombasthenia caused by an apparently silent beta3 mutation that results in aberrant splicing and reduced beta3 mRNA.
|
15886806 |
2005 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients.
|
15748237 |
2005 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
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 |
GeneticVariation
|
disease |
LHGDN |
Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients.
|
15748237 |
2005 |
|
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 |
GeneticVariation
|
disease |
LHGDN |
A novel Ser123Pro substitution in the MIDAS domain of integrin 3 associated with variant Glanzmann's thrombasthenia in an Indian patient.
|
15590407 |
2004 |
|
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 |
BEFREE |
Several mutations on either integrin alpha(IIb) [glycoprotein (GP) IIb] or integrin beta(3) (GP IIIa) were reported in GT.
|
12707732 |
2003 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Major mutations in calf-1 and calf-2 domains of glycoprotein IIb in patients with Glanzmann thrombasthenia enable GPIIb/IIIa complex formation, but impair its transport from the endoplasmic reticulum to the Golgi apparatus.
|
12609844 |
2003 |
|
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 |
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 |
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 |
UNIPROT |
Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients.
|
12083483 |
2002 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Two different beta3 cysteine substitutions alter alphaIIb beta3 maturation and result in Glanzmann thrombasthenia.
|
12152649 |
2002 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
UNIPROT |
Two new beta3 integrin mutations in Indian patients with Glanzmann thrombasthenia: localization of mutations affecting cysteine residues in integrin beta3.
|
12353082 |
2002 |