|
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 Case of Bernard-Soulier Syndrome due to a Novel Homozygous Missense Mutation in an Exon of the GP1BA Gene.
|
31302646 |
2020 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
These findings reveal a novel nonredundant regulatory role for platelets in hepatic TPO homeostasis, which improves our understanding of constitutive TPO regulation and has important implications in diseases related to GPIbα, such as BSS and auto- and alloimmune-mediated thrombocytopenias.
|
29794068 |
2018 |
|
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 |
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 |
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 |
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 |
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 |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genetics of familial forms of thrombocytopenia.
|
22886561 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Bernard-Soulier syndrome.
|
21357716 |
2011 |
|
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 |
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 |
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 |
LHGDN |
Novel point mutation in a leucine-rich repeat of the GPIbalpha chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant.
|
18815197 |
2008 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran.
|
17763149 |
2007 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Genetic abnormalities of Bernard-Soulier syndrome.
|
12463594 |
2002 |
|
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 |
GeneticVariation
|
disease |
LHGDN |
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 |
UNIPROT |
Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families.
|
10089893 |
1999 |
|
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 |