ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia
| dc.rights.license | open | en_US |
| dc.contributor.author | NURDEN, A. T. | |
| hal.structure.identifier | Biologie des maladies cardiovasculaires = Biology of Cardiovascular Diseases | |
| dc.contributor.author | PILLOIS, X. | |
| dc.date.accessioned | 2020-11-16T15:31:43Z | |
| dc.date.available | 2020-11-16T15:31:43Z | |
| dc.date.issued | 2018-01 | |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/14039 | |
| dc.description.abstractEn | Studies on Glanzmann thrombasthenia (GT) helped discover the αIIbβ3 integrin and led to successful antithrombotic therapy [1,2]. GT is defined by a lack of platelet aggregation with physiological agonists, but a normal response to ristocetin. Historically, patients have been segregated into three groups: type I where platelets lack αIIbβ3 (by definition \textless5% of the normal platelet content), type II with residual αIIbβ3 (usually 5–15%) that may be functional or not, while in type III or variant GT αIIbβ3 fails to function despite platelets having up to 100% of normal levels [3]. αIIbβ3 assures platelet aggregation by changing from a bent to an extended and open form on platelet activation, conformational changes that allow fibrinogen (Fg) or other adhesive proteins to bind and crosslink platelets [4]. The absence of this function causes severe mucocutaneous bleeding and perhaps underestimated nonhemostatic defects often linked to loss of the wider biological expression of αvβ3 [5]. Inherited thrombocytopenia and increased platelet size associate with a GT-like phenotype in rare families [6]. ... | |
| dc.language.iso | EN | en_US |
| dc.subject | Article RECHERCHE | |
| dc.title.en | ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia | |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1080/09537104.2017.1371291 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Médecine humaine et pathologie | en_US |
| bordeaux.journal | Platelets | en_US |
| bordeaux.volume | 29(1) | en_US |
| bordeaux.hal.laboratories | Biologie des maladies cardiovasculaires - U1034 | en_US |
| bordeaux.issue | 98-101 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| hal.export | false | |
| bordeaux.COinS | ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Platelets&rft.date=2018-01&rft.volume=29(1)&rft.issue=98-101&rft.au=NURDEN,%20A.%20T.&PILLOIS,%20X.&rft.genre=article |
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