Gene Information from Publications |
| Publication Link |
Summary of findings |
| 18217193 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18162457 |
Increased levels of Factor VIII occurred in the precursors of cardiac myocytes, smooth muscle and endothelial cells in normal and post-ischemic hearts. |
| 18292408 |
Using FVIII-deficient plasma as a model of reduced thrombin generation, we demonstrate that low antithrombin levels enhance in vitro hemostatic responses to rFVIIa. |
| 17610549 |
we have found that F8 gene large deletions are likely to be a high risk factor also for immunetolerance therapy unresponsiveness, while no clear evidence has been demonstrated for other mutation types. |
| 11027931 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11057857 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 11091190 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 11122386 |
Observational study of genetic testing. (HuGE Navigator) |
| 11128113 |
Observational study of genotype prevalence and genetic testing. (HuGE Navigator) |
| 11391716 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11396323 |
Observational study of genetic testing. (HuGE Navigator) |
| 11673296 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11722428 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11737010 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11739969 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11848448 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 12041568 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12358922 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12578706 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 12615788 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12768323 |
Observational study of genetic testing. (HuGE Navigator) |
| 12871600 |
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) |
| 15660987 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15735794 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15735796 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15824541 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16088320 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16128892 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16380445 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16628729 |
Observational study of genotype prevalence and genetic testing. (HuGE Navigator) |
| 16732372 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16956829 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17209060 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 17927806 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17973851 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 18160577 |
Observational study of genetic testing. (HuGE Navigator) |
| 17349154 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17848617 |
Epitope mapping for a variety of F8 antibodies reveal epitope sites that bind lipids, sites that are linked to F8 activation by either thrombin or FXa, and sites that bind VWF |
| 17927806 |
Two haplotypes in FVIII and one in FXIIIa1 were significantly associated with increased ischemic stroke risk |
| 17944985 |
causative mutation of hemophilia A is -219C>T in the promoter region and is found in a family pedigree |
| 18064310 |
A2 domain of factor VIII interacts with low-density lipoprotein-related proteins via multiple binding sites. |
| 18217133 |
Cathepsin G from neutrophils and monocytes may provide some pro-coagulant effect by activating FVIII. |
| 18217134 |
Demonstrate the efficacy and safety of sucrose formulated recombinant FVIII during normal clinical use in the treatment of patients with severe haemophilia A. |
| 17916745 |
the C1 domain of FVIII contributes to platelet-binding affinity |
| 18000608 |
hereditary haemorrhagic telangiectasia (HHT)-related elevation of FVIII:Ag levels may influence thrombotic risk in HHT |
| 18000609 |
asymptomatic individuals with elevated FVIII:c levels and a positive family history of VTE or arterial vascular events before the age of 50 appear to have a high annual incidence of first VTE and arterial vascular events. |
| 17958741 |
FVIII trafficking to WPBs is independent of Tyr1680 and high-affinity binding to VWF; the structural requirements that determine intracellular co-trafficking differ from those that determine complex assembly in circulation. |
| 17958750 |
Factor VIII-specific memory B cells are absent or present at low levels in patients with hemophilia A who have been successfully treated with immune tolerance induction |
| 18024377 |
plasma-derived FVIII induces lower levels of inhibitors than rFVIII, and that VWF is an immuno-chaperone molecule for FVIII |
| 17650078 |
Duplications involving int22h-1 of the factor VIII gene may mask point mutations in hemophilia A |
| 17890957 |
During the second and third gestation trimesters a significant increase (P < 0.05) in FVIII and VWF:Ag levels and a decrease in FPS levels were seen compared with the first trimester. |
| 15921397 |
28 new mutations of factor VIII are described, among 109 Andalusian hemophilia A patients. |
| 17849066 |
Used FVIII-deficient plasma to detect FVIII-dependent activated protein resistance. |
| 17846507 |
when the domain-deleted vWF-lentiviruses were transduced into K562 cells, the vEx28 increased the activity of the secreted FVIII compared to what was observed with vEx52. |
| 17498081 |
study found 10 novel mutations in Albanian patients with haemophilia A: 4 null mutations in severe haemophilia A (Gln1090X, Cys1832X, 2374delT, 5676insT) & 6 missense mutations (Ile76Thr, Leu299Pro, Asp525Glu, Cys692Tyr, His1755Leu & Trp1835Cys) |
| 17498085 |
data from this study suggest that the spectrum of factor VIII gene defects in Korean patients with haemophilia A is as heterogeneous as reported in other populations |
| 17823971 |
inversion with concomitant deletion and insertion events in the coagulation factor VIII gene may be a mechanism for X-chromosomal rearrangements causing hemophilia A |
| 17445092 |
A total of 47 different hemophilia A causative FVIII mutations have been identified, 26 of which are described for the first time. |
| 17636198 |
the relationship between ischemic stroke and increased factor VIII levels in children is doubtful. |
| 14644079 |
occurrence of high levels associated with stroke in a 5-year old girl |
| 11748850 |
Eleven pathological changes in the factor VIII sequence detected in male patients with haemophilia A or in female obligate carriers. |
| 12719774 |
The binding activity of the C-C2 domain to PS-containing phospholipid vesicles was measured, showing that the C2 domain alone does not have full membrane binding activity, and that the other light chain domains, A3 and/or C1, are also involved. |
| 12719775 |
Competitive ELISAs suggested that F2200 plays a more important role in both phospholipid-binding and vWF-binding than N2198 and M2199. |
| 14961153 |
elevated plasma FVIII levels in liver cirrhosis are associated with increased hepatic biosynthesis of VWF and decreased expression of LRP, rather than increased FVIII synthesis |
| 12201837 |
REVIEW: Molecular defects in coagulation Factor VIII and their impact on Factor VIII function. |
| 12871415 |
Molecular modeling suggested mechanisms by which substitutions at residues 382 and 569, located outside the proposed FIXa-binding region, may influence FVIII/FIXa interaction. His2155 was predicted to participate in FVIII/VFW binding. |
| 14684146 |
review of role of factor VIIIa to markedly increase the catalytic efficiency of factor IXa in the activation of factor X |
| 12220193 |
The activation of procofactor VIII to factor VIIIa increases the affinity of binding to platelets of both factor VIIIa and factor X. |
| 15634269 |
elevated levels of FVIII:C put patients at increased risk for both venous and arterial thrombosis |
| 16569771 |
Lungs from heart-beating donors who were declined for transplantation were perfused and ventilated in an isolated reperfusion model for 2 hours. A progressive accumulation of FVIII and von Willebrand factor (VWF) was recorded in the perfusion medium. |
| 16953272 |
neither FVIII, thrombin-activated FVIII, VWF nor a complex of FVIII and VWF modulate the maturation of human dendritic cells or their capacity to stimulate autologous or allogeneic T cells |
| 15459008 |
Addition of von Willebrand factor//factor VIII complex increased platelet adhesion to the collagen surface in platelet-reduced blood plattelets to normal levels. |
| 11799130 |
Cofactor activities of factor VIIIa and A2 subunit following cleavage of A1 subunit at Arg336 |
| 16086318 |
mutations in the F8 gene have roles in severe hemophilia A |
| 15869621 |
the factor XIII Val34Leu mutation is dependent on fibrinogen for its preventive effect in deep venous thrombosis |
| 14722121 |
factor VIII has a Ca2+ binding site required for cofactor activity in the A1 domain |
| 17287628 |
results support the common FVHR2 as a possible independent determinant of FVIII:c levels, the relationship between factor V and factor VIII levels, and the hypothesis of a mild prothrombotic role of FVHR2 by means of increased factor VIII levels |
| 11858487 |
Heteroduplex screening identified 74 small mutations in the F8 genes of 72 families with hemophilia A. In 24 families, at least one affected member had an alloimmune response to F8: of these, 11 were associated with missense mutations. |
| 12857556 |
Large gene rearrangements of introns of the factor VIII gene in severe hemophilia A. |
| 12412575 |
The intron 1 factor VIII gene inversion was found in 1 of 20 in a population of Italian hemophilia A patients. |
| 14717992 |
The factor VIII gene intron 1 inversion mutation: prevalence in severe hemophilia A patients in the UK. |
| 15353485 |
high FVIII levels in venous thromboembolism represent a complex trait caused by several genetic factors. |
| 16042406 |
Increased cofactor specific activity observed for factor VIII with a calcium ion-binding site Glu113Ala mutation may result from its enhanced affinity for factor IXa on the physiological membrane. |
| 17334514 |
the association between Val34Leu polymorphism and coronary artery disease (Meta-Analysis) |
| 17502612 |
demonstrate that entry of FVIII into human dendritic cells (DC) leading to T cell activation, is mediated by mannose-terminating glycans on FVIII |
| 15471879 |
hemophilic mutations across the factor VIII C2 domain have variable effects on stability and von Willebrand Factor-binding activities |
| 16601827 |
analysis of FVIII mutations in haemophilia A patients |
| 14675089 |
elevated factor (F)VIII:C plasma levels are a risk factor for early recurrent miscarriages |
| 12368162 |
Factor VIIIc may play a role in the development of venous thromboembolism in factor V Leiden carriers |
| 15886209 |
LMAN1 and MCFD2 form a cargo receptor complex and the primary sorting signals residing in the B domain direct the binding of factor VIII |
| 14521595 |
high levels of coagulation FXI, FIX and FVIII are related to risk of inherited thrombophilia syndrome |
| 12617176 |
review of the response of T- and B-cells to transfused Factor VIII, epitope mapping, and the mechanism of inhibition of F8 by alloantibodies |
| 12058364 |
Effect of deficiency on generation of thrombin |
| 12091341 |
Mutations associated with hemophilia A in the 558-565 loop of the factor VIIIa A2 subunit alter the catalytic activity of the factor Xase complex. |
| 12428094 |
Mutagenecity studies suggests that the entire tightly packed hydrophobic core within the predicted pseudo-threefold axis contributes to stabilization of FVIIIa. |
| 15670040 |
results point to the presence of still unknown factor(s) causing hemophilia A, which might be either allelic or in the close proximity of the F8 gene or non-allelic associated with other genetic loci that are involved in the processing of the F8 protein. |
| 15946216 |
asparagine-linked oligosaccharide structures of the FVIII B domain recognize the carbohydrate recognition domains of ASGPR and an ASOR-sensitive mechanism, most likely ASGPR, contributes to the catabolism of coagulation FVIII in vivo. |
| 16487577 |
review of protein structure and effect of factor VIII [review] |
| 16601852 |
a missense mutation in factor VIII gene may have a role in hemophilia A diagnosed in a female with Swyer syndrome [case report] |
| 12969981 |
A deletion of Ala2201 (Del2201) was identified in the FVIII C2 domain of 2 unrelated patients with mild hemophilia A. This mutation prevents FVIII binding to a human monoclonal antibody recognizing the C2 domain. |
| 11769673 |
Fourteen of the 21 females were confirmed to be carriers. |
| 16823491 |
Results show that factor VIII ectopically targeted to platelets is therapeutic in hemophilia A with high-titer inhibitory antibodies. |
| 15202164 |
Comparison of the prevalence of high FVIIIc levels in pediatric stroke patients and healthy subjects with and without FVL/PT 20210 indicated that high FVIII levels are an independent risk factor. |
| 16102111 |
Ten representative three-dimensional models of the FVIIIa-FIXa complex are presented based on agreements with known experimental data and according to structural criteria. |
| 11848448 |
No mutations at the APC interacting sites exons 8, 11, & 19) of factor VIII were found in Caucasians with recurrent deep venous thrombosis. |
| 11848452 |
A founder factor VIII mutation, valine 2016 to alanine, was found in a Newfoundland population with an extraordinarily high prevalence of mild hemophilia A. |
| 16270627 |
epitope specificity, FVIII antibody mechanism of FVIII inactivation, and their relationship with FVIII genetic alterations |
| 12203998 |
Seven novel mutations causing severe, moderate and mild Hemophilia A. |
| 12204009 |
Reported nine novel (6 deletions, two indels and one partial duplication) and five recurrent small rearrangements identified in 15 German patients with severe hemophilia A. |
| 15705787 |
results indicate a markedly reduced rate of cleavage following substitution at the P(1)Arg. However, prolonged reaction with thrombin yielded similar activity and stability values, reflecting the moderate severity of this hemophilia A phenotype |
| 11857744 |
Forty-one novel causative factor VIII gene mutations have been identified and classified in hemophiliacs. |
| 15682412 |
mutational screening of 18 unrelated Italian patients affected with Hemophilia A of varying severity identified 5 movel mutations; consequences of each missense mutation and the effect of the amino acid change on structural FVIII models was visualized |
| 12958606 |
antibodies against FVIII acidic regions can inhibit FVIII function by a variety of mechanisms, in particular by interfering with the binding of FVIII to phospholipids & VWF. |
| 15456493 |
Polymerized fibrin can function as a platelet co-stimulus, up-regulating expression of binding sites for FVIIIa |
| 16786531 |
95 novel mutations within the coalgulation factor VIII gene are associated with hemophilia A. |
| 17116206 |
Patients with elevated levels of FVIII should be screened for blood group, as the non-O group confers a particularly high risk for arterial occlusive diseases. |
| 11864712 |
Activation by thrombin dramatically increased fVIII affinity for LDL but not HDL, which may be related to differences in phospholipid composition of the LPs. |
| 15236327 |
Following the the fate of the chimeric embryo in a blastomere marked with the human blood coagulation factor VIII (hFVIII in rabbit germline. |
| 15550021 |
identified F8 A2 domain epitopes recognized by CD4+ T cells and compared proliferative responses of CD4+ T cells from hemophilia patients and healthy controls to these F8 epitopes |
| 15710596 |
analysis of novel mutations in the factor VIII gene in Indian patients with hemophilia A |
| 15913649 |
in the presence of Ca2+, phospholipid, and FVIIIa, binding of Na+ to factor IXa increases its biologic activity |
| 16513639 |
cupredoxin-like A1 subdomains in fVIII contain inter-species differences that are a result of selective pressure on the dissociation rate constant |
| 12574801 |
The role of factor VIII in tissue factor-initiated spatial clot growth was studied on fibroblast monolayers in recalcified plasma from severe haemophilia A. Functioning of the intrinsic tenase complex is critical for normal spatial clot growth. |
| 12036878 |
increased procoagulant activity due to formation of additional fVIII phosphatidylserine binding sites on the outer surface of oxLDL-treated cells and higher binding affinity between components of the Xase complex, activated factors VIII and IX. |
| 14629468 |
FIXa/FVIIIa binding studies of coordinate binding of FVIIIa and FX to equivalent numbers of binding sites on activated platelets provide strong evidence that FVIIIa comprises the receptor that presents FX to FIXa for catalysis on the platelet membrane. |
| 14629470 |
an interaction between LMAN1 and FVIII in vivo was mediated via high mannose-containing asparagine-linked oligosaccharides that are densely situated within the B domain of FVIII, as well as protein-protein interactions |
| 15304045 |
analysis of epitope repertoire of coagulation factor VIII in hemophilia A patients and healthy subjects |
| 16339403 |
Cause of hemophilia A is either absence or rapid degradation of the F8 mRNA. |
| 15213843 |
venous thromboembolism patients showed a significantly higher plasma FVIII/VWF ratio |
| 15996947 |
factor VIII coagulant activity is restored by exon skipping in patients with mild hemophilia A with exon 13 duplication |
| 12154809 |
Alu-repetitive elements are directly involved in the origin of a novel large FVIII gene deletion caused by unequal homologous Alu/Alu recombination in a severe hemophilia A patient |
| 11830468 |
3-Dimensional structure of membrane-bound coagulation factor VIII from electron crystallography |
| 12567191 |
mutation, or lack of mutation in this protein in hemophilia A |
| 14517489 |
studied a group of healthy non-bleeding women to evaluate normal ranges OF F8 and VWF and their relationship to blood group and parity in normal pregnancy, and the return to non-pregnant factor levels in puerperium |
| 12522143 |
coagulation factor VIII has a specific domain (A3) for binding low density lipoprotein receptor-related protein and factor IXa |
| 16769589 |
Disease-causing alterations within the F8 gene were identified in 177 hemophilia A families of Portuguese origin. |
| 16839343 |
propose that LRP binding of non-activated FVIII is mediated via the FVIII light chain while in activated FVIII both the heavy and light chain contribute to LRP binding. |
| 16894461 |
FXIII-A is expressed in leukemic lymphoblasts |
| 16894464 |
formation of TF-FVIIa-FXa complex prevents apoptosis in breast cancer cells by a thrombin-independent pathway |
| 12717434 |
inactivating mutations in MCFD2 cause combined deficiency of factor V and factor VIII with a phenotype indistinguishable from that caused by mutations in LMAN1 |
| 14764590 |
a cluster of acidic residues at position 361-363 contribute to a unique factor Xa-interactive site within the factor VIII heavy chain that promotes factor Xa docking during cofactor activation |
| 15073030 |
Inhibitory antibody response to human factor VIII can be reduced by mutagenesis of a B-cell epitope without apparent loss of function: may be a safer form of factor VIII in patients with hemophilia A. |
| 16038719 |
FVIII152-159 represents a dominant CTL epitope |
| 16953269 |
R763G is a new type 2N VWD mutation located in the VWF propeptide which alters the proteolytic processing of VWF and consequently its binding to FVIII |
| 16956829 |
The combination of -25C/G LRP polymorphism with FVIII D1241E and ABO polymorphisms produced a gradient of FVIII levels; post-translational modification and removal from circulation, have additive effects on the variance of FVIII levels in plasma. |
| 17119108 |
document crucial roles for von Willebrand factor and FVIII in experimental thrombosis under venous flow conditions in vivo |
| 17342157 |
This study shows that FVIII activity in hemophilia A heterozygous females can be directly related to X-chromosome inactivation skewing, and that low FVIII activity in females in this family is due to unfavourable XCI skewing. |
