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GP1BB wt Allele

Known as: GPIBB, Nuclear Localization Signal Deleted In Velocardiofacial Syndrome Gene, CD42C 
Human GP1BB wild-type allele is located in the vicinity of 22q11.21 and is approximately 2 kb in length. This allele, which encodes platelet… 
National Institutes of Health

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22q11.21CD42c AntigensGP1BA wt AlleleGP1BB gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Novel genetic abnormalities in Bernard-Soulier syndrome in India
Bernard-Soulier syndrome (BSS) is a severe inherited bleeding disorder due to defects in GPIb/IX/V, a platelet receptor that… 
2009
2009
The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbbeta
GPIbα, GPIbβ, and GPIX are three candidate genes for a rare genetic bleeding disorder named Bernard Soulier syndrome (BSS). These… 
2009
2009
A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibα gene in a patient with Bernard–Soulier syndrome
We present a patient with Bernard–Soulier syndrome harboring a novel mutation. Flow cytometric analysis showed that the… 
2006
2006
Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations.
Bernard-Soulier syndrome (BSS) is a rare bleeding disorder characterized by giant platelets, thrombocytopenia, and prolonged… 
2003
2003
A novel missense mutation shows that GPIbbeta has a dual role in controlling the processing and stability of the platelet GPIb-IX adhesion receptor.
Glycoprotein (GP) Ibalpha is a major adhesive receptor of platelets, surface expressed as part of the GPIb-IX-V complex. However… 
2001
2001
A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibbeta gene affects GPIb/IX complex expression--Bernard-Soulier syndrome in the homozygous form and giant platelets in the…
This study examined the molecular basis of a missense mutation of the platelet glycoprotein (GP) Ibbeta gene in two families. In… 
2000
2000
Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome.
Bernard-Soulier syndrome is a rare bleeding disorder caused by a quantitative or qualitative defect in the platelet glycoprotein… 
2000
2000
Homozygous Pro74 → Arg Mutation in the Platelet Glycoprotein Ibβ Gene Associated with Bernard-Soulier Syndrome
Summary Bernard-Soulier syndrome (BSS) is an autosomal recessive bleeding disorder due to quantitative or qualitative… 
Highly Cited
1998
Highly Cited
1998
Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein.
The platelet GPIb-V-IX complex is the receptor for the initial binding of von Willebrand factor (vWF) mediating platelet adhesion… 
1998
1998
A novel ligand-binding site in the zeta-form 14-3-3 protein recognizing the platelet glycoprotein Ibalpha and distinct from the c-Raf-binding site.
We reported previously that the zeta-form 14-3-3 protein (14-3-3zeta) binds to a platelet adhesion receptor, glycoprotein (GP) Ib… 
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