| GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families. | GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.
Barozzi S, Pecci A, Marinoni M, Fontana G, Zanchetta ME, Noris P, Savoia A, Faleschini M. | 03/9/2023 |
| 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. | 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.
Dib F, Quéméner A, Bayart S, Boisseau P, Babuty A, Trossaërt M, Sigaud M, Ternisien C, Drillaud N, Eveillard M, Guillet B, Béné MC, Fouassier M. | 12/3/2022 |
| A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation. | A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation.
Dunstan-Harrison C, Morison IM, Ledgerwood EC. | 05/14/2022 |
| A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbbeta in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly. | A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.
Barozzi S, Bozzi V, De Rocco D, Giangregorio T, Noris P, Savoia A, Pecci A., Free PMC Article | 10/30/2021 |
| A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia. | A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.
Busonero F, Steri M, Orrù V, Sole G, Olla S, Marongiu M, Maschio A, Sidore C, Lai S, Mulas A, Zoledziewska M, Floris M, Pala M, Forabosco P, Asunis I, Pitzalis M, Deidda F, Masala M, Caria CA, Barella S, Abecasis GR, Schlessinger D, Sanna S, Fiorillo E, Cucca F., Free PMC Article | 03/28/2021 |
| High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island. | High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island.
Fiore M, De Thoré C, Randrianaivo-Ranjatoelina H, Baas MJ, Jacquemont ML, Dreyfus M, Lavenu-Bombled C, Li R, Gachet C, Dupuis A, Lanza F., Free PMC Article | 02/6/2021 |
| GPIBB hemizygosity does not result in either macrothrombocytopenia or bleeding in patients with 22q11 deletion syndrome. | Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome.
Zwifelhofer NMJ, Bercovitz RS, Weik LA, Moroi A, LaRose S, Newman PJ, Newman DK., Free PMC Article | 04/11/2020 |
| New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia. | New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia.
Ferrari S, Lombardi AM, Cortella I, Businaro MA, Bertomoro A, Di Pasquale I, Fabris F. | 01/4/2020 |
| loss of CD34 and expression of CD42b define cells capable of factor V endocytosis and trafficking to proplatelet extensions during differentiation of megakaryocytes ex vivo from progenitor cells isolated from umbilical cord blood | Endocytosed factor V is trafficked to CD42b(+) proplatelet extensions during differentiation of human umbilical cord blood-derived megakaryocytes.
Gertz JM, McLean KC, Bouchard BA. | 09/28/2019 |
| Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. | Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Sivapalaratnam S, Westbury SK, Stephens JC, Greene D, Downes K, Kelly AM, Lentaigne C, Astle WJ, Huizinga EG, Nurden P, Papadia S, Peerlinck K, Penkett CJ, Perry DJ, Roughley C, Simeoni I, Stirrups K, Hart DP, Tait RC, Mumford AD, NIHR BioResource, Laffan MA, Freson K, Ouwehand WH, Kunishima S, Turro E., Free PMC Article | 08/19/2017 |
| miR-10a and miR10b regulate the expression of human platelet GP1BA and GP1bb for normal megakaryopoiesis. | MicroRNAs 10a and 10b Regulate the Expression of Human Platelet Glycoprotein Ibα for Normal Megakaryopoiesis.
Zhang Z, Ran Y, Shaw TS, Peng Y., Free PMC Article | 04/8/2017 |
| Data show that localization of the GP Ib-IX complex to the lipid domain is mediated by GP Ibbeta and GP IX transmembrane domains. | The Transmembrane Domains of β and IX Subunits Mediate the Localization of the Platelet Glycoprotein Ib-IX Complex to the Glycosphingolipid-enriched Membrane Domain.
Xu G, Shang D, Zhang Z, Shaw TS, Ran Y, López JA, Peng Y., Free PMC Article | 02/6/2016 |
| Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibbeta in a patient with Bernard-Soulier syndrome. | Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibβ in a patient with Bernard-Soulier syndrome.
Qiao J, Davis AK, Morel-Kopp MC, Ward CM, Gardiner EE, Andrews RK. | 01/16/2016 |
| genetic association study in population in western India: Data suggest novel mutations in platelet glycoprotein Ib (GP1BA, GP1BB) and GP9 are associated with Bernard-Soulier syndrome in subjects studies; of 12 mutations identified, ten were novel. | Novel genetic abnormalities in Bernard-Soulier syndrome in India.
Ali S, Ghosh K, Shetty S. | 04/12/2014 |
| a suspicion of 22q11.2 deletion is warranted in pediatric BSS patients with a mutation in the GPIbbeta gene, even without remarkable symptoms. | Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion.
Kunishima S, Imai T, Kobayashi R, Kato M, Ogawa S, Saito H. | 04/5/2014 |
| Studies indicate that platelets from Bernard-Soulier syndrome (BSS) are defective in glycoprotein (GP)Ib-IX-V, a platelet-specific adhesion-signaling complex, composed of GPIbalpha disulfide linked to GPIbbeta, and noncovalently associated with GPIX and GPV. | Bernard-Soulier syndrome: an update.
Andrews RK, Berndt MC. | 03/22/2014 |
| 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 | Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimera.
McEwan PA, Yang W, Carr KH, Mo X, Zheng X, Li R, Emsley J., Free PMC Article | 11/24/2012 |
| 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. | The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbβ.
HadjKacem B, Elleuch H, Trigui R, Gargouri J, Gargouri AF. | 11/3/2012 |
| 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. | Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity.
Mahfouz RA, Bolz HJ, Otrock ZK, Bergmann C, Muwakkit S. | 09/1/2012 |
| Report glycoprotein Ib/IX complex mutations found in Bernard-Soulier syndrome in Indian patients. | Molecular basis of Bernard-Soulier syndrome in 27 patients from India.
Sumitha E, Jayandharan GR, David S, Jacob RR, Sankari Devi G, Bargavi B, Shenbagapriya S, Nair SC, Abraham A, George B, Viswabandya A, Mathews V, Chandy M, Srivastava A. | 02/4/2012 |
| GPIIb/IIIa is the primary receptor set involved in platelet adhesion to adsorbed fibrinogen and serum albumin irrespective of their degree of adsorption-induced unfolding, while the GPIb-IX-V receptor complex plays an insignificant role. | Delineating the roles of the GPIIb/IIIa and GP-Ib-IX-V platelet receptors in mediating platelet adhesion to adsorbed fibrinogen and albumin.
Sivaraman B, Latour RA., Free PMC Article | 09/24/2011 |
| GP Ibbeta/GP IX mediates the disulfide-linked GP Ibalpha localization to the GEMs, which is critical for vWf interaction at high shear | Platelet glycoprotein Ib beta/IX mediates glycoprotein Ib alpha localization to membrane lipid domain critical for von Willebrand factor interaction at high shear.
Geng H, Xu G, Ran Y, López JA, Peng Y., Free PMC Article | 09/3/2011 |
| Identify TRAF4 as a novel binding partner for GPIb-IX-V and GPVI in human platelets. | TNF receptor-associated factor 4 (TRAF4) is a novel binding partner of glycoprotein Ib and glycoprotein VI in human platelets.
Arthur JF, Shen Y, Gardiner EE, Coleman L, Murphy D, Kenny D, Andrews RK, Berndt MC. | 05/7/2011 |
| -induced activation of GpIb-V-IX triggers platelet procoagulant activity and anchorage of a star-like fibrin network. | Key role of glycoprotein Ib/V/IX and von Willebrand factor in platelet activation-dependent fibrin formation at low shear flow.
Cosemans JM, Schols SE, Stefanini L, de Witt S, Feijge MA, Hamulyák K, Deckmyn H, Bergmeier W, Heemskerk JW., Free PMC Article | 02/26/2011 |
| putative convex surface of the LRR domain in GPIX is sufficient, in the context of full-length subunit, to mediate its association with GPIbbeta | 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, López JA, Emsley J, Li R., Free PMC Article | 01/21/2010 |