Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for constitutional thrombocytopenia. A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.

Binding of the GPIb-IX-V complex to von Willebrand factor allows platelets to stick to the blood vessel wall at the site of the injury. These platelets form clots, plugging holes in the blood vessels to help stop bleeding.

Jan 15, 2004 · Recently, the combination of in vitro megakaryocytopoiesis and plasma levels of TPO and glycocalicin (eg, soluble GP1b) has been shown to be an effective method for distinguishing between several forms of inherited thrombocytopenia. 72 In some cases, a therapeutic trial may be necessary to better understand the disorder. This may take the form ...

Dec 25, 2024 · GP1BA (Glycoprotein Ib Platelet Subunit Alpha) is a Protein Coding gene. Diseases associated with GP1BA include Von Willebrand Disease, Platelet-Type and Bernard-Soulier Syndrome, Type A2, Autosomal Dominant.

A gene on chromosome 17pter-p12 that encodes the alpha subunit of the Ib-V-IX system of platelet surface membrane glycoproteins, which comprise the von Willebrand factor (vWF) receptor and mediate adhesion of platelets to injured vascular surfaces with circulation, a critical event in haemostasis. The alpha subunit provides the vWF binding site.

The GP1b-IX-mediated platelet activation occurs through various signaling pathways, including the mitogen-activated protein kinase pathways, the phosphatidylinositol 3-kinase (PI3-kinase) protein kinase B (Akt) pathway, the FcRγ-Syk/PLCγ2 pathway, and the LIM kinase 1 (LIMK1) pathway [73,74].

Nov 5, 2020 · GP1BA encodes the glycoprotein (GP) 1bα subunit of the GP1b/IX/V complex, the platelet receptor for von Willebrand factor (VWF) and a mediator of outside-in signalling that contributes to platelet activation.

Jul 15, 2015 · The objective of this proposed project is to define the role of ectodomain shedding of glycoprotein GP1b? in mediating platelet clearance by utilizing a novel monoclonal antibody inhibitor that specifically blocks shedding of GP1b?.

Jan 26, 2007 · Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein that functions as a receptor for von Willebrand factor (VWF; 613160). The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain and a beta chain (GP1BB; 138720), that are linked by disulfide bonds. The GP1BA gene encodes the alpha subunit.

Jun 9, 2017 · GP1b was shown to signal via the FcRγ-ITAM (Fc Receptor γ-Immunoreceptor tyrosine-based activation motif) pathway, activating spleen tyrosine kinase (Syk) and other tyrosine kinases. However, there have been conflicting reports …