|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS) is a hereditary macrothrombocytopenia caused by defects in the glycoprotein (GP) Ib-IX-V complex.
|
31352676 |
2019 |
|
Bernard-Soulier Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS) is a congenital bleeding disorder characterised by thrombocytopenia, giant platelets and decreased platelet adhesion resulting from genetic alterations of the glycoprotein (GP) Ib/IX/V complex.
|
26044173 |
2015 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
A defective platelet glycoprotein (GP) Ib/IX/V complex [von Willebrand factor (VWF) receptor] results in Bernard-Soulier syndrome (BSS), which is characterized by macrothrombocytopenia and impaired ristocetin- and thrombin-induced platelet aggregation.
|
23414566 |
2013 |
|
Bernard-Soulier Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Platelets from BSS patients are typically defective in surface expression of glycoprotein (GP)Ib-IX-V, a platelet-specific adhesion-signaling complex, composed of GPIbα disulfide linked to GPIbβ, and noncovalently associated with GPIX and GPV.
|
23929303 |
2013 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The hallmark of BSS is an abnormal platelet attachment to the vessel wall due to reduced or abnormal glycoprotein Ib/IX/V complex.
|
22343686 |
2012 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS) is an inherited bleeding disorder caused by a defect in the platelet glycoprotein (GP) Ib-IX-V complex.
|
22044935 |
2012 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS) is an inherited bleeding disorder caused by a defect in the platelet glycoprotein (GP) Ib/IX complex.
|
23143686 |
2012 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS) is an extremely rare (1:1 million) bleeding disorder of platelet adhesion, caused by defects in the glycoprotein (GP)Ib/IX/V complex.
|
21699652 |
2011 |
|
Bernard-Soulier Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS) is a severe inherited bleeding disorder that is caused by a defect in glycoprotein (GP)Ib-IX-V complex, the platelet membrane receptor for von Willebrand factor.
|
17083647 |
2007 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor.
|
15609295 |
2005 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier Syndrome (BSS) is a severe congenital platelet disorder that results from a deficiency of the platelet membrane glycoprotein (GP) Ib/IX complex that is composed of four subunits (GPIbalpha, GPIbbeta, GPIX, and GPV).
|
15550031 |
2004 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
An absent platelet glycoprotein (GP) Ib-IX receptor results in the Bernard-Soulier syndrome and is characterized by severe bleeding and the laboratory presentation of macrothrombocytopenia.
|
12200373 |
2002 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier Syndrome (BSS) is an autosomal recessive bleeding disorder due to quantitative or qualitative abnormalities in the glycoprotein (GP) Ib/IX/V complex, the platelet receptor for von Willebrand factor.
|
12463594 |
2002 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS) is an autosomal recessive bleeding disorder caused by quantitative or qualitative abnormalities in the glycoprotein (GP) Ib/IX/V complex, the platelet receptor for von Willebrand factor.
|
12447957 |
2002 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bernard Soulier Syndrome (BSS) is a rare inherited bleeding disorder caused by a defect in the glycoprotein (GP)Ib/IX/V complex.
|
11297032 |
2001 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier syndrome is a rare bleeding disorder caused by a quantitative or qualitative defect in the platelet glycoprotein (GP) Ib-IX-V complex.
|
10887115 |
2000 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS), a hereditary qualitative platelet disorder, is now proved to be caused by a qualitative or quantitative abnormality of the platelet glycoprotein (GP) Ib/IX/V complex.
|
10805283 |
2000 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
We have disrupted the gene encoding the alpha-subunit of mouse GP Ib-IX-V (GP Ibalpha) and describe a murine model recapitulating the hallmark characteristics of the human Bernard-Soulier syndrome.
|
10706630 |
2000 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS) is an autosomal recessive bleeding disorder due to quantitative or qualitative abnormalities in the glycoprotein (GP) Ib/IX/V complex, the platelet receptor for von Willebrand factor.
|
10928480 |
2000 |
|
Bernard-Soulier Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS), a rare bleeding disorder with macrothrombocytopenia, is caused by a defect of the platelet glycoprotein (GP) Ib/IX/V complex.
|
10227459 |
1999 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS) is an autosomal recessive bleeding disorder due to quantitative or qualitative abnormalities in the glycoprotein (GP) Ib/IX/V complex, the platelet receptor for von Willebrand factor.
|
10583255 |
1999 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier syndrome is an uncommon bleeding disorder caused by a quantitative or qualitative defect in the platelet glycoprotein (GP)Ib/IX complex.
|
10216092 |
1999 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The platelet membrane glycoprotein (GP) Ib-IX-V complex, the major von Willebrand factor receptor on platelets, is absent or dysfunctional in patients with the Bernard-Soulier syndrome (BSS).
|
9163595 |
1997 |
|
Bernard-Soulier Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder which is caused by a qualitative or quantitative abnormality of the platelet glycoprotein (GP) Ib/IX/V complex.
|
9432024 |
1997 |
|
Bernard-Soulier Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To evaluate the biosynthetic basis for decreased glycoprotein (GP) Ib-IX expression resulting from GP IX mutations described in three siblings with Bernard-Soulier syndrome, we introduced each mutation into the cDNA for GP IX by site-directed mutagenesis (GP IX Asp21 --> Gly and GP IX Asn45 --> Ser) and examined the associations of the mutants with the two other subunits of the GP Ib-IX complex in transfected cells.
|
8608225 |
1996 |