| http://purl.uniprot.org/citations/14691565 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14691565 | http://www.w3.org/2000/01/rdf-schema#comment | "A novel mutation in the factor VII gene resulting in procoagulant activity of 7.5% and antigen levels of 23% is presented. Single-stranded conformational polymorphism and DNA sequencing analysis revealed heterozygous shifts, and mutations were detected in exons 5, 7 and 8. The mutant L204P in exon 7 was novel, while the common polymorphisms, H115H and R353Q, were located in exons 5 and 8, respectively. The molecular effect of the L204P mutation was characterized using recombinant mammalian expression in Chinese hamster ovary cells. Low levels (4 ng/ml) of secreted mutant protein were found in transiently transfected cells compared to wild-type factor VII (83 ng/ml). Metabolic labeling demonstrated that the rate of mutant protein synthesis was similar to that of wild-type FVII, and the mutant protein accumulated intracellularly with no signs of increased degradation during a four-hour chase. No interaction between secreted P204 protein and immobilized soluble tissue factor was detected using surface plasmon reso-nance. The activation rate of recombinant mutant FVII protein was strongly reduced compared to wild-type FVII. A 9-fold reduction in the rate of FX activation was detected whereas Km was nearly the same for wild-type and the mutant. This slow rate was caused by a correspondingly lowered rate of P204 activation. A synthetic peptide sequence comprising amino acids 177-206 blocked binding of FVIIa to the TF-chip, and the subsequent factor X activation with an IC(50) value of 0.5 micro M in a chromogenic factor Xa assay. Additionally, evaluation of the peptide by surface plasmon resonance analysis resulted in inhibition of complex formation with an apparent K(I) of 7 micro M."xsd:string |
| http://purl.uniprot.org/citations/14691565 | http://purl.org/dc/terms/identifier | "doi:10.1160/th03-05-0258"xsd:string |
| http://purl.uniprot.org/citations/14691565 | http://purl.uniprot.org/core/author | "Prydz H."xsd:string |
| http://purl.uniprot.org/citations/14691565 | http://purl.uniprot.org/core/author | "Stormorken H."xsd:string |
| http://purl.uniprot.org/citations/14691565 | http://purl.uniprot.org/core/author | "Husbyn M."xsd:string |
| http://purl.uniprot.org/citations/14691565 | http://purl.uniprot.org/core/author | "Kavlie A."xsd:string |
| http://purl.uniprot.org/citations/14691565 | http://purl.uniprot.org/core/author | "Wiiger M.T."xsd:string |
| http://purl.uniprot.org/citations/14691565 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/14691565 | http://purl.uniprot.org/core/name | "Thromb Haemost"xsd:string |
| http://purl.uniprot.org/citations/14691565 | http://purl.uniprot.org/core/pages | "28-37"xsd:string |
| http://purl.uniprot.org/citations/14691565 | http://purl.uniprot.org/core/title | "A novel gene mutation in the 60s loop of human coagulation factor VII - inhibition of interdomain crosstalk."xsd:string |
| http://purl.uniprot.org/citations/14691565 | http://purl.uniprot.org/core/volume | "91"xsd:string |
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