|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the GP1BA gene in Bernard-Soulier syndrome.
|
31789661 |
2020 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in GP1BA gene leads to mono-allelic Bernard Soulier syndrome form of macrothrombocytopenia.
|
26849716 |
2017 |
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this study, we examined the efficacy of this strategy for the gene therapy of BSS using GPIbα(null) as a murine model of BSS.
|
22044935 |
2012 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An autosomal dominant mode of inheritance, a family history of mild bleeding episodes, aggregation pattern in affected individuals together with evidence of mutation occurring in part of the GP1BA gene encoding the leucine-rich repeat region suggest a novel variant causing monoallelic Bernard-Soulier syndrome.
|
30332551 |
2018 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS) is an extremely rare form of platelet adhesion disorder caused by genetic changes occurring in the glycoprotein genes GPIbα, GPIbβ and GPIX with autosomal recessive inheritance pattern.
|
23402648 |
2013 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein.
|
9639514 |
1998 |
|
Bernard-Soulier Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The laboratory parameters which are characteristically for BSS such as platelet count, platelet volume and the expression of CD42a (GPIX), CD42b (GPIbalpha) and CD41 (GPIIb) were measured for all 38 individuals.
|
19404517 |
2009 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A Novel Homozygous c.800C>G Substitution in GP1BA Exon 2 in a Kuwaiti Family with Bernard-Soulier Syndrome.
|
26044173 |
2015 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I).
|
7873390 |
1995 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe in a BSS patient the first case of homozygous four bases deletion (TGAG) in the gpIbalpha gene coding sequence, leading to a premature stop codon.
|
18791947 |
2008 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome.
|
7819107 |
1994 |
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results suggest that a signaling process through the GPIbα cytoplasmic tail required for full platelet activation is defective in BSS variant case II and a length polymorphism of GPIbα is associated with a modified level of RIPA heterozygous BSS case I.
|
23414566 |
2013 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Platelet transfusions can fail to prevent bleeding in patients with inherited platelet function disorders (IPDs), such as Glanzmann's thrombasthenia (GT; integrin αIIbβ3 dysfunction), Bernard-Soulier syndrome [BSS; glycoprotein (GP) Ib/V/IX dysfunction], and the more recently identified nonsyndromic <i>RASGRP2</i> variants.
|
31826978 |
2019 |
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
During this study, we identified the genetic basis of a very rare double heterozygous GP1b deficiency in a BSS patient, along with a new homozygous GP1b inactivating mutation in another BSS patient.
|
23300803 |
2012 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis.
|
21993687 |
2011 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome.
|
7690774 |
1993 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Several point mutations and deletions affecting the GPIb alpha gene have been identified as the cause of BSS, whilst in four BSS families a GPIX gene defect has been reported.
|
9163595 |
1997 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygosity of the GPIbalpha gene associated with Bernard-Soulier syndrome.
|
11776304 |
2001 |
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome.
|
10706630 |
2000 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently several mutations have been described in the platelet GPIb alpha gene in individuals exhibiting the BSS phenotype.
|
8481514 |
1993 |
|
Bernard-Soulier Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We demonstrated that the novel deletion mutation resulted in complete defectiveness of the GPIbalpha protein and null expression of the entire GPIb/IX complex, and was responsible for the Bernard-Soulier syndrome phenotype in this patient.
|
19448529 |
2009 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome.
|
7819107 |
1994 |
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome.
|
2308962 |
1990 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A Case of Bernard-Soulier Syndrome due to a Novel Homozygous Missense Mutation in an Exon of the GP1BA Gene.
|
31302646 |
2020 |