| http://purl.uniprot.org/citations/24048413 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24048413 | http://www.w3.org/2000/01/rdf-schema#comment | "Genetic fibrinogen (FGN) variants that are associated with bleeding or thrombosis may be informative about fibrin polymerisation, structure and fibrinolysis. We report a four generation family with thrombosis and heritable dysfibrinogenaemia segregating with a c.[1541delC];[=] variation in FGA (FGN-Perth). This deletion predicts a truncated FGN αC-domain with an unpaired terminal Cys at residue 517 of FGN-Aα. In keeping with this, SDS-PAGE of purified FGN-Perth identified a truncated FGN-Aα chain with increased co-purification of albumin, consistent with disulphide bonding to the terminal Cys of the variant FGN-Aα. Clot visco-elastic strength in whole blood containing FGN-Perth was greater than controls and tPA-mediated fibrinolysis was delayed. In FGN-Perth plasma and in purified FGN-Perth, there was markedly reduced final turbidity after thrombin-mediated clot generation. Consistent with this, FGN-Perth formed tighter, thinner fibrin fibres than controls indicating defective lateral aggregation of protofibrils. Clots generated with thrombin in FGN-Perth plasma were resistant to tPA-mediated fibrinolysis. FGN-Perth clot also displayed impaired tPA-mediated plasmin generation but incorporated α2-antiplasmin at a similar rate to control. Impaired fibrinolysis because of defective plasmin generation potentially explains the FGN-Perth clinical phenotype. These findings highlight the importance of the FGN αC-domain in the regulation of clot formation and fibrinolysis."xsd:string |
| http://purl.uniprot.org/citations/24048413 | http://purl.org/dc/terms/identifier | "doi:10.1160/th13-05-0408"xsd:string |
| http://purl.uniprot.org/citations/24048413 | http://purl.uniprot.org/core/author | "Mumford A.D."xsd:string |
| http://purl.uniprot.org/citations/24048413 | http://purl.uniprot.org/core/author | "Duval C."xsd:string |
| http://purl.uniprot.org/citations/24048413 | http://purl.uniprot.org/core/author | "Whalley D."xsd:string |
| http://purl.uniprot.org/citations/24048413 | http://purl.uniprot.org/core/author | "Brown R."xsd:string |
| http://purl.uniprot.org/citations/24048413 | http://purl.uniprot.org/core/author | "Phillips E."xsd:string |
| http://purl.uniprot.org/citations/24048413 | http://purl.uniprot.org/core/author | "Lee K.R."xsd:string |
| http://purl.uniprot.org/citations/24048413 | http://purl.uniprot.org/core/author | "Westbury S.K."xsd:string |
| http://purl.uniprot.org/citations/24048413 | http://purl.uniprot.org/core/author | "Philippou H."xsd:string |
| http://purl.uniprot.org/citations/24048413 | http://purl.uniprot.org/core/author | "Ariens R.A."xsd:string |
| http://purl.uniprot.org/citations/24048413 | http://purl.uniprot.org/core/author | "Murden S.L."xsd:string |
| http://purl.uniprot.org/citations/24048413 | http://purl.uniprot.org/core/author | "Reilly-Stitt C."xsd:string |
| http://purl.uniprot.org/citations/24048413 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/24048413 | http://purl.uniprot.org/core/name | "Thromb Haemost"xsd:string |
| http://purl.uniprot.org/citations/24048413 | http://purl.uniprot.org/core/pages | "1135-1144"xsd:string |
| http://purl.uniprot.org/citations/24048413 | http://purl.uniprot.org/core/title | "Partial deletion of the alphaC-domain in the Fibrinogen Perth variant is associated with thrombosis, increased clot strength and delayed fibrinolysis."xsd:string |
| http://purl.uniprot.org/citations/24048413 | http://purl.uniprot.org/core/volume | "110"xsd:string |
| http://purl.uniprot.org/citations/24048413 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24048413 |
| http://purl.uniprot.org/citations/24048413 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/24048413 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z3M3-mappedCitation-24048413 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24048413 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z3P3-mappedCitation-24048413 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24048413 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z3E8-mappedCitation-24048413 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24048413 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z3E9-mappedCitation-24048413 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24048413 |