Recombinant Human Coagulation factor VIII (F8)

1. This study describes an original pathological mechanism by which a small intronic deletion in F8 leads to Alu exonization. PMID: 29357978
2. A common polymorphism decreases LRP1 mRNA stability and is associated with increased plasma factor VIII levels PMID: 28431990
3. F8 and F9 gene variants result from a founder effect in two large French haemophilia cohorts PMID: 29656491
4. our results demonstrate that the N-glycosylation sequon in the A2 domain is located in a structural element that is critically required for proper folding and conformation of FVIII. PMID: 28327546
5. The aim of this study was to determine the F8 mutations in severe HA (sHA) patients and female carriers PMID: 29938987
6. Human FVIII gene transfer without in vivo selection of manipulated cells can introduce immune tolerance in hemophilia A mice and this immune tolerance is CD4(+) T cell mediated. PMID: 28799202
7. In Factor VIII, 41 mutations were identified, 19 of which were novel and 80% (44/55) of the pathogenic mutations fell into the categories of missense, nonsense(16.36%), frameshift (14.55%), and splice (5.45%) mutations. PMID: 28252515
8. High dose of rhFVIII induces apoptosis in FVIII-specific memory B-cells but does not influence FVIII-specific T cell response. PMID: 28492697
9. the potential role of FXIII-A in wound healing, as a field with long-term therapeutic implications, is also discussed PMID: 28894750
10. Case Report: complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis in proband's mother. PMID: 28492696
11. Report a diagnostic algorithm that can reliably identify pathogenic variants of factor 8/9 and von Willebrand factor and diagnose patients with hemophilia A, hemophilia B or von Willebrand disease. PMID: 27734074
12. Each hFVIII vector was administered to FVIII knockout (KO) mice at a dose of 10(10) genome copies (GC) per mouse. Criteria for distinguishing the performance of the different enhancer/promoter combinations were established prior to the initiation of the studies. PMID: 28056565
13. Relevance of ethnic differences in factor XIII activity on laboratory reference ranges. PMID: 28488800
14. analysis of co-existing variants in both F8 and PTGS-1 genes in a three-generation pedigree of hemophilia A PMID: 27629384
15. Potential mutations of the F8 gene were analyzed. PMID: 28777843
16. FVIII endocytosis is driven by interaction with LRP1 PMID: 28558995
17. Of special importance is the sequential formation of disulfide bonds with different functions in structural support of VWF multimers, which are packaged, stored and further processed after secretion. Here, all these processes are being reviewed in detail including background information on the occurring biochemical reactions. [review] PMID: 28139814
18. The FVIII C1 domain contributes significantly to the immune response against FVIII in acquired and congenital hemophilia inhibitor patients. PMID: 28507083
19. the existing epidemiologic investigations with an overview of the range of possible biochemical and immunologic mechanisms that may contribute to the different immune outcomes observed with plasma-derived and recombinant FVIII products. PMID: 28432221
20. discuss potential mechanisms through which these intronic SNPs regulate ST3GAL4 biosynthesis and the activity that affects VWF and FVIII PMID: 27584569
21. the half-life of VWF ( approximately 15 hours) appears to be the limiting factor that has confounded attempts to extend the half-life of rFVIII. PMID: 27587878
22. results revealed localized vascular expression of FVIII and von Willebrand factor and identified lymphatic endothelial cell as a major cellular source of FVIII in extrahepatic tissues. PMID: 27207787
23. NGS analysis has identified a large deletion of exon 2 of the F8 gene in a family affected with hemophilia A. PMID: 27984605
24. the results indicate that residues in the C1 and/or C2 domains of factor VIII are implicated in immunogenic factor VIII uptake, at least in vitro Conversely, in vivo, the binding to endogenous von Willebrand factor masks the reducing effect of mutations in the C domains on factor VIII immunogenicity. PMID: 27758819
25. Galectin-1 and Galectin-3 are novel-binding partners for human FVIII. Gal-1 binding can influence the procoagulant activity of FVIII. PMID: 27013611
26. In general, NGS provides an effective approach to screen for different HA causing mutation types in the F8 gene. PMID: 27824209
27. Our results confirm the rare event of Haemophilia A and haemophilia B in the same patient originating from two distinct genetic defects in F8 and F9 genes. PMID: 27824213
28. although fVIII bound avidly to soluble forms of clusters II and IV from LRP1, only soluble cluster IV competed with the binding of fVIII to full-length LRP1, revealing that cluster IV represents the major fVIII binding site in LRP1. PMID: 27794518
29. The FVIII B domain variants, p.D963N, p.S806T, p.G873D, p.H998Q and p.Q1225R may be considered as polymorphism or non-pathologic mutations in patients with Haemophilia A. PMID: 26915717
30. In this meta-analysis, we have assessed the association between the FXIII-A Val34Leu polymorphism and intracerebral hemorrhage risk. The results of a combined analysis showed no significant association between the FXIII-A Val34Leu polymorphism and ICH risk in the overall population. The results of this meta-analysis suggest that the FXIII-A Val34Leu polymorphism is not associated with ICH risk in a Caucasian population. PMID: 27525858
31. this study shows that targeted high-throughput sequencing is an effective technique to detect the F8 gene mutations in hemophilia patients PMID: 27292088
32. F8 intron 22 inversions and SNP rs73563631 have roles in severe hemophilia A in unrelated families PMID: 26489971
33. von Willebrand factor binds to the surface of dendritic cells and modulates peptide presentation of factor VIII. PMID: 26635035
34. Desmopressin acetate increases F8 plasma concentration in patients with combined deficiency of factors V and VIII. PMID: 26599105
35. 37 (70%) of the 53 had discordant antigen-activity ratio, majority of those mutations produced FVIII with low FVIII-specific activity. However, 4 (7.5%) of the 53 mutations produced higher specific activity of FVIII. It is possible that these mutations either produce a secretory defect or an increased metabolic turnover to account for the low levels of FVIII with these mutations. PMID: 25550078
36. In situ genetic correction of F8 intron 22 inversion in hemophilia A patient-specific induced pluripotent stem cells has been described. PMID: 26743572
37. Platelet-targeted FVIII gene therapy has higher therapeutic efficacy compared to factor VIII replacement therapy may be due to accelerated thrombin generation. PMID: 26453193
38. Five int22h homologous copies at the Xq28 locus identified in intron22 inversion type 3 of the Factor VIII gene. PMID: 26653368
39. Letter: report deep intronic variants of factor VII gene in hemophilia A. PMID: 26246214
40. Carriers of Inv22 or Inv1 of F8 may be precisely detected with inverse-shifting PCR PMID: 27455009
41. Factor VIII 3E6 antibody binding decreases the thermal motion behavior of surface loops in the C2 domain on the opposing face, thereby suggesting that cooperative antibody binding is a dynamic effect. PMID: 26598467
42. 3030 SNPS, 31 Indels and a large, 497 kb, deletion were found among 2535 subjects from 26 different ethnic groups participating in the 1000 Genomes Project. PMID: 26383047
43. Coagulation test results showed that the presence of double Glu113Asp, Arg593Cys mutations has a slightly synergistic effect on FVIII activity. PMID: 26057490
44. Report a dose-response relationship between high FVIII levels and risk of death in venous thrombosis patients and in individuals from the general population. PMID: 26264493
45. Case Report: P1809L mutation in A3 induced the conformational change in the FVIII molecule that hampered antigenic determinant(s) located in the C2 domain and might result in the inhibitor development. PMID: 26278069
46. FVIII predicted venous thrombosis recurrence in a dose-response fashion, overall and in several subgroups, and is a strong candidate component of recurrence prediction tools. PMID: 26270389
47. FXIII expression was upregulated in the airways of asthmatic patients after allergen exposure. PMID: 26525229
48. Interaction between VWF and FVIII in treating VWD. PMID: 25605439
49. large F8 rearrangements pose the highest risk, while missense mutations pose the lowest risk of inhibitor development in Indian hemophilia A patients PMID: 26897466
50. Identify deep intronic variants in 15 haemophilia A patients by next generation sequencing of the whole factor VIII gene. PMID: 25948085

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HGNC: 3546

OMIM: 134500

KEGG: hsa:2157

STRING: 9606.ENSP00000353393

UniGene: Hs.632836