|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The objective of this study was to determine how GPIBB hemizygosity and sequence variation relate to macrothrombocytopenia and bleeding in patients with 22q11DS who do not have Bernard-Soulier syndrome.
|
30549403 |
2019 |
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
|
28064200 |
2017 |
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Lentiviral gene rescue of a Bernard-Soulier mouse model to study platelet glycoprotein Ibβ function.
|
27148783 |
2016 |
|
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genetics of familial forms of thrombocytopenia.
|
22886561 |
2012 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Eight GPIbβ missense mutations identified from patients with Bernard-Soulier syndrome were examined for changes to GPIb-IX complex surface expression.
|
21908432 |
2011 |
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Bernard-Soulier syndrome.
|
21357716 |
2011 |
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay.
|
21800012 |
2011 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings confirm that the identified GPIbβ mutation is responsible for the BSS phenotype and hampers the GPIb-IX complex to form on the platelets' surface.
|
19484238 |
2010 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression.
|
18825380 |
2009 |
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Decreased thrombotic tendency in mouse models of the Bernard-Soulier syndrome.
|
17095718 |
2007 |
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
In this study, we investigated the effects of two naturally occurring mutations in the GPIbbeta gene, C122S and 443delG, on the expression of the GPIb/IX complex identified in a variant type of BSS in which the platelets had severely reduced GPIbalpha ( approximately 10%) and less markedly reduced GPIbbeta and GPIX ( approximately 20%) expression.
|
16978236 |
2006 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we investigated the effects of two naturally occurring mutations in the GPIbbeta gene, C122S and 443delG, on the expression of the GPIb/IX complex identified in a variant type of BSS in which the platelets had severely reduced GPIbalpha ( approximately 10%) and less markedly reduced GPIbbeta and GPIX ( approximately 20%) expression.
|
16978236 |
2006 |
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells.
|
16409472 |
2006 |
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Genetic deletion of mouse platelet glycoprotein Ibbeta produces a Bernard-Soulier phenotype with increased alpha-granule size.
|
15213102 |
2004 |
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Genetic deletion of mouse platelet glycoprotein Ibbeta produces a Bernard-Soulier phenotype with increased alpha-granule size.
|
15213102 |
2004 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a family with Bernard-Soulier syndrome with a homozygous mutation within the GPIb(beta) gene.
|
12945881 |
2003 |
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We report a family with Bernard-Soulier syndrome with a homozygous mutation within the GPIb(beta) gene.
|
12945881 |
2003 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Disruption of the Cys5-Cys7 disulfide bridge in the platelet glycoprotein Ibbeta prevents the normal maturation and surface exposure of GPIb-IX complexes.
|
12958615 |
2003 |
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A novel missense mutation shows that GPIbbeta has a dual role in controlling the processing and stability of the platelet GPIb-IX adhesion receptor.
|
12693941 |
2003 |
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Disruption of the Cys5-Cys7 disulfide bridge in the platelet glycoprotein Ibbeta prevents the normal maturation and surface exposure of GPIb-IX complexes.
|
12958615 |
2003 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta--platelet characterization and transfection studies.
|
12529755 |
2002 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Genetic abnormalities of Bernard-Soulier syndrome.
|
12463594 |
2002 |
|
Bernard-Soulier Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report here a novel nonsense mutation of the GPIbbeta gene associated with BSS.
|
12447957 |
2002 |
|
Bernard-Soulier Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We report here a novel nonsense mutation of the GPIbbeta gene associated with BSS.
|
12447957 |
2002 |