Citations for
1GP1BB, GP9
Binding of platelet glycoprotein Ibbeta through the convex surface of leucine-rich repeats domain of glycoprotein IX.
Mo X, Nguyen NX, McEwan PA, Zheng X, Lůpez JA, Emsley J, Li R.
J Thromb Haemost 7(9):1533-40. Epub 2009 Jun 29.PMID: 19566547 2009
2GP1BB, GP9
Specific heteromeric association of four transmembrane peptides derived from platelet glycoprotein Ib-IX complex.
Luo SZ, Li R.
J Mol Biol 382(2):448-57. Epub 2008 Jul 22.PMID: 18674540 2008
3GP1BA, GP1BB, GP1BC, GP9
Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran.
Afrasiabi A, Lecchi A, Artoni A, Karimi M, Ashouri E, Peyvandi F, Mannucci PM.
Platelets 18(6):409-13. 2007
4GP1BB
Genetic deletion of mouse platelet glycoprotein Ibbeta produces a Bernard-Soulier phenotype with increased alpha-granule size.
Kato K, Martinez C, Russell S, Nurden P, Nurden A, Fiering S, Ware J.
Blood 104(8):2339-44. Epub 2004 Jun 22. 2004
5GP1BA, GP1BB
Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ib beta impairs assembly of von Willebrand factor receptor.
Tang J, Stern-Nezer S, Liu PC, Matyakhina L, Riordan M, Luban NL, Steinbach PJ, Kaler SG.
Thromb Haemost 92(1):75-88.PMID: 15213848 2004
6GP1BB
A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta--platelet characterization and transfection studies.
Hillmann A, Nurden A, Nurden P, Combrie R, Claeyssens S, Moran N, Kenny D.
Thromb Haemost 88(6):1026-32. 2002
7DEL22Q11, GP1BB
Bernard-Soulier syndrome associated with 22q11.2 microdeletion.
Nakagawa M, Okuno M, Okamoto N, Fujino H, Kato H.
Am J Med Genet 99(4):286-8. 2001
8GP1BA, GP1BB, GP1BC, GP5, GP9
A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV.
Noris P, et al.
Br J Haematol 103(4):1004-13. 1998
9GP1BB
Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.
Kunishima S, et al.
Blood 89 : 2404-2412. 1997
10GP1BB, SEPTIN5
Alternative expression of platelet glycoprotein Ibbeta mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence.
Zieger B, Hashimoto Y, Ware J.
J Clin Invest 99 : 520-525. 1997
11GP1BA, GP1BB
Molecular defects in the Bernard-Soulier syndrome : assessment of receptor genes, transcripts and proteins. Défauts moléculaires dans le syndrome de Bernard-Soulier, gŹnes des récepteurs, protéines et transcrits.
Roth GJ.
C R Acad Sci III 319 : 819-826. 1996
12GP1BB
Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome.
Ludlow LB, et al.
J Biol Chem 271 : 22076-22080. 1996
13DEL22Q11, GP1BB
Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velo-cardio-facial chromosomal region in 22q11.2.
Budarf ML, et al.
Hum Mol Genet 4 : 763-766. 1995
14GP1BB
Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ibbeta.
Yagi M, et al.
J Biol Chem 269 : 17424-17427. 1994
15GP1BB
Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ibbeta (GPIb beta) and localization of the GPIb beta gene to chromosome 22.
Kelly MD, et al.
J Clin Invest 93 : 2417-2424. 1994
16GP1BB
von Willebrand factor binding to platelet GpIb initiates signals for platelet activation.
Kroll MH, Harris TS, Moake JL, Handin RI, Schafer AI.
J Clin Invest 88(5):1568-73.PMID: 1939645 1991