|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (beta 3) in a Chinese patient with Glanzmann's thrombasthenia.
|
8781422 |
1996 |
|
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 |
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 |
BEFREE |
Homozygous or compound heterozygous mutations in the genes of GPIIb and GPIIIa lead to GT.
|
18930954 |
2009 |
|
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 |
The molecular basis of GT in 6 unrelated Iraqi-Jewish patients was previously identified as an 11-bp deletion in exon 12 of the GPIIIa gene.
|
9160670 |
1997 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
A patient (OG) with Glanzmann thrombasthenia became refractory to platelet transfusion following the production of IgG antibodies (Ab1) specific for the integrin subunit beta 3.
|
7543974 |
1995 |
|
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 |
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 |
UNIPROT |
Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients.
|
15748237 |
2005 |
|
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 |
Complex formation of platelet membrane glycoproteins IIb and IIIa with fibrinogen.
|
6460044 |
1982 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients.
|
12083483 |
2002 |
|
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 |
Biomarker
|
disease |
BEFREE |
Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia.
|
19691478 |
2009 |
|
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 |
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 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 |
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 |
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 |
UNIPROT |
A beta 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformation.
|
2392682 |
1990 |
|
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 |