Skip to search formSkip to main contentSkip to account menu

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

Related topics

Related topics

7 relations
22q11.21CD42c AntigensGP1BA wt AlleleGP1BB gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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… 
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… 
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… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)