Recombinant Human Platelet glycoprotein Ib beta chain (GP1BB), partial

1. Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. PMID: 28064200
2. Data show that localization of the GP Ib-IX complex to the lipid domain is mediated by GP Ibbeta and GP IX transmembrane domains. PMID: 26203189
3. Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibbeta in a patient with Bernard-Soulier syndrome. PMID: 26275786
4. a suspicion of 22q11.2 deletion is warranted in pediatric BSS patients with a mutation in the GPIbbeta gene, even without remarkable symptoms. PMID: 23566026
5. GPIbbeta missense mutations from Bernard-Soulier syndrome were examined for changes to GPIb-IX complex surface expression. Mutations A108P and P74R were found to maintain normal secretion/folding of GPIbbeta(E) but were unable to support GPIX surface expression PMID: 21908432
6. A novel variant of Bernard Soulier syndrome is described in which Ser23 of GPIbbeta is substituted by a Stop codon causing a premature termination of translation. PMID: 19484238
7. A 14-month-old boy with Bernard-Soulier syndrome was found to be homozygous for a nonsense mutation (c.423C > A) in the glycoprotein Ib-beta. PMID: 22343686
8. Identify TRAF4 as a novel binding partner for GPIb-IX-V and GPVI in human platelets. PMID: 20946164
9. putative convex surface of the LRR domain in GPIX is sufficient, in the context of full-length subunit, to mediate its association with GPIbbeta PMID: 19566547
10. Lateral clustering of platelet GP Ib-IX complexes leads to up-regulation of the adhesive function of integrin alpha IIbbeta 3 PMID: 11812775
11. Role of GPIbbeta in modulating vWF mediated platelet adhesion. PMID: 11816713
12. A GP1BB missense mutation suppresses GPIb/IX complex expression and is found to cause Bernard-Soulier Syndrome in the homozygous form and giant platelets in the heterozygous form. PMID: 11816714
13. The cysteine knot of platelet GPIb beta is critical for the interaction of GPIb beta with GPIX. PMID: 12036872
14. PKA-mediated phosphorylation of GPIbbeta at Ser(166) negatively regulates VWF binding to GPIb-IX and is one of the mechanisms by which PKA mediates platelet inhibition PMID: 12361948
15. The GPIb beta intracellular domain has a role in controlling the adhesive properties of the GPIb/V/IX complex through phosphorylation of GPIb beta Ser166 and point to the existence of cross-talk between the GPIb beta and GPIb alpha intracellular domains. PMID: 12522011
16. novel hemizygous variant of Bernard-Soulier Syndrome in which Pro29 in one GPIbbeta allele is substituted by a Leu PMID: 12529755
17. To determine the sequence in the beta3 cytoplasmic domain that is critical to integrin signaling, cell lines were established that coexpress the platelet receptor for GP1BB. PMID: 12860973
18. identified novel GPIbbeta mutation is responsible for the Bernard-Soulier syndrome phenotype and provide an explanation for the molecular mechanism underlying the reduced platelet content of GPIb-IX complex in the heterozygous individuals studied PMID: 12958615
19. The SEPT5 gene resides approximately 250 nucleotides 5' to the GP Ibbeta gene and has been associated with modulating exocytosis from neurons and platelets as part of a presynaptic protein complex PMID: 15213102
20. Velocardiofacial syndrome patients have in-vitro defects in platelet function that may increase their risk of bleeding during surgery. PMID: 18064328
21. the N1421K substitution in the VWF affects the GPIb binding site or a recognition element by a conformational change of the A1 domain. PMID: 18637125
22. proplatelet formation in human megakaryocytes undergoes a complex spatio-temporal regulation orchestrated by adhesive proteins, GPIb-IX-V and myosin IIA PMID: 18752571
23. novel Ser 23 Stop mutation in GPIbbeta is responsible of BSS in the studied family and hampers the complex to form on the platelets surface. PMID: 18825380

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HGNC: 4440

OMIM: 138720

KEGG: hsa:2812

STRING: 9606.ENSP00000383382

UniGene: Hs.283743