|
Bernard-Soulier Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Due to simultaneous analysis of four fluorophores in a basic panel design, we are able to readily detect the most common and clinically significant platelet disorders: Glanzmann thrombasthenia or Glanzmann-like diseases (fibrinogen receptor GPIIb-IIIa), Bernard-Soulier syndrome (von Willebrand-factor receptor complex GPIb-IX-V) and less well characterized β1-integrins that serve as the collagen, laminin or fibronectin receptor (CD29-CD49b, e and f, respectively).
|
29227167 |
2018 |
|
Bernard-Soulier Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Bernard Soulier Syndrome (BSS) is a rare autosomal platelet disorder characterized by mutations in the von Willebrand factor platelet receptor complex GPIb-V-IX.
|
28395735 |
2017 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The VWF was elevated in both BSS and in heterozygotes (P = 0.005).
|
25370924 |
2015 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS) is a severe inherited bleeding disorder due to defects in GPIb/IX/V, a platelet receptor that normally functions as a platelet membrane receptor for von Willebrand factor, thrombin and factor XI.
|
23995613 |
2014 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder characterized by defects of the GPIb-IX-V complex, a platelet receptor for von Willebrand factor (VWF).
|
24934643 |
2014 |
|
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 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS) is a rare recessively inherited bleeding disorder caused by the deficiency of the platelet glycoprotein (Gp) complex Ib/IX/V that is the von Willebrand factor receptor on platelets.
|
17763149 |
2007 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
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 |
GeneticVariation
|
disease |
BEFREE |
There is no consensus, however, on whether the formation of platelet procoagulant activity (PPA) is impaired in BSS and, if so, whether this is due to the lack of GPIb-V-IX-dependent binding of thrombin or of von Willebrand factor (VWF).
|
14717981 |
2004 |
|
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 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 |
GPIbalpha, together with other proteins, constitutes the plasma von Willebrand factor (vWF) receptor, which is altered in Bernard-Soulier syndrome (BSS).
|
11222377 |
2001 |
|
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 |
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 (BSS) is a rare hereditary bleeding disorder and macrothrombocytopenia which is caused by a defect in the platelet glycoprotein Ib/IX/V (GP Ib/IX/V) complex, the receptor for von Willebrand factor and thrombin.
|
10089893 |
1999 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Whether GPV-deficiency might also cause BSS is unknown as are the roles of GPV in platelet-vWF interaction and thrombin signaling.
|
10590056 |
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 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder which is caused by abnormal expression or function of the glycoprotein (GP) Ib/IX/V complex, a platelet major receptor for von Willebrand factor.
|
8972003 |
1996 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Both the genetic defects and the bleeding diatheses associated with the syndrome are heterogeneous due, in part, to the complexity of the involved receptor which consists of four different members, GPs: Ib alpha-Mr 143 K (contains the von Willebrand factor-binding site), Ib beta-Mr 22 K, V-Mr 83 K and IX-Mr 20 K. We studied a kindred that includes a 40 year-old man with severe Bernard-Soulier syndrome: life-threatening gastrointestinal bleeding, thrombocytopenia, giant platelets and absent ristocetin-dependent platelet aggregation.
|
8950770 |
1996 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier syndrome (B-Ss) is a rare congenital bleeding disorder caused by abnormal giant platelets, thrombocytopenia, and defective glycoprotein (GP) Ib-V-IX, the adhesion receptor for von Willebrand factor (vWF).
|
7579348 |
1995 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The study of defects in the expression of the GPIb-V-IX complex at the platelet surface leading to pathological disorders, like Bernard-Soulier syndrome (BSS), or in the affinity of platelets for vWf, like pseudo-von Willebrand disease, has helped to delineate the binding site for vWf on GPIb alpha.
|
7660135 |
1995 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
BSS is characterized by the presence of giant platelets that show a reduced binding of vWf.
|
7855797 |
1994 |
|
Bernard-Soulier Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe a new variant of Bernard-Soulier syndrome.The patient (W.K.) showed the classic bleeding symptoms together with absence of platelet agglutination to restocetin plus von Willebrand factor, whereas aggregation to ADP, collagen, and arachidonic acid was normal.
|
8049428 |
1994 |
|
Bernard-Soulier Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS) giant platelets have defective and/or deficient glycoprotein (GP) Ib/IX complexes, causing absent ristocetin-induced aggregation, defective interaction with von Willebrand factor, morphologic abnormality, and a clinical bleeding tendency.
|
8481514 |
1993 |