|
1. |
Case Report: Haemophilia A in two unrelated females due to F8 gene inversions combined with skewed inactivation of X chromosome. |
|
2. |
L-arginine increases expression of human FVIII gene in HUVEC through enhancing its transcription. |
|
3. |
The ability of blood outgrowth endothelial cells to store a significant portion of synthesized FVIII-GFP in Weibel-Palade bodies provide an attractive cellular on-demand delivery device for gene therapy of hemophilia A. |
|
4. |
FVII hypercoagulant activity levels in diabetes mellitus is not associated with obesity, leptin levels or insulin resistance, but is associatted with hypertriglyceridemia. |
|
5. |
Data suggest that populations of proteolytic anti-Factor VIII IgG in acquired hemophilia patients are different from that of inhibitor-positive hemophilia A patients. |
|
6. |
Factor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitors. |
|
7. |
The risk of extra-hepatic portal vein obstruction increased with increasing factor VIII levels and was only partially dependent on the acute phase reaction. |
|
8. |
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) |
|
9. |
Report gene transfer to hemophilia A mice via oral delivery of FVIII-chitosan nanoparticles. |
|
10. |
Suggest that haplotyping of factor VIII gene determines better prognosis in the direction of indirect genetic analysis of hemophilia A. |
|
11. |
Novel causative mutation V197G of Factor VIII which could be detected neither in the neonate nor in his mother which accounted for hemophilia A. |
|
12. |
the spectrum of mutations of the F8 gene in Lebanese patients with haemophilia A; 21 are novel. |
|
13. |
Results suggest that anti-FVIII Abs share a pattern of antigen specificity and that exposed regions of the FVIII molecule that form functionally important binding sites elicit an intense Ab response. |
|
14. |
A family with combined point mutations of the hemophilia A (F8)and X-linked adrenoleukodystrophy (ABCD1) genes. |
|
15. |
heavy chain cleavages during thrombin-catalyzed activation of factor VIII are influenced by cleavage at Arg 1689 |
|
16. |
Identification of plasmin-interactive sites in the light chain of factor VIII responsible for proteolytic cleavage at Lys36. |
|
17. |
residues 2228-2240 in the factor VIIIa C2 domain constitutes an interactive site for the Gla domain of factor IXa. The findings provide the first evidence for an essential role for this interaction in factor Xase assembly |
|
18. |
Markers of inflammation (factor VIIIc, von Willebrand factor, white blood cell count) and hemostasis are associated with greater risk of kidney function decrease. |
|
19. |
Data show that seven hemophilia A patients showed F8 gene inversion mutation in thirty-one patients. Three in four mothers of HA patients with intron 22 inversion mutation were diagnosed as carriers. |
|
20. |
inhibitory effect of VWF added decreased with decreasing rFVIII concentration in FVIII/VWF-depleted substrate plasma |
|
21. |
Altered bioavailability of platelet-derived factor VIII during thrombocytosis reverses phenotypic efficacy in haemophilic mice. |
|
22. |
Examine correlation between von Willebrand factor antigen, von Willebrand factor ristocetin cofactor activity and factor VIII activity in plasma. |
|
23. |
nine of 80 prescreened hemophilia A patients showed large duplications of one or more exons |
|
24. |
review of intron 22 inversions |
|
25. |
Positively charged K466, R471, R489 & R490, & hydrophilic residues Y487 & S488 form the frame of the consensus binding site of F8 with megalin, LDLR and VLDLR. Binding requires dissociation of F8 from von Willebrand factor and is activation sensitive. |
|
26. |
VWF may reduce the immunogenicity of FVIII by inhibiting the uptake of FVIII by antigen presenting cells |
|
27. |
The c.3780C > G (p.D1260E) change was over-represented among mild mild hemophilia A patients in whom the genetic analyses of the F8 gene failed to detect a pathological mutation. |
|
28. |
Results deascribe the chromosomal localization of the human Factor VIII transgene in F2 and F3 generations of transgenic rabbits using FISH-TSA. |
|
29. |
identification of 38 new genetic alterations in severe and moderate hemophilia A |
|
30. |
The F8 C2 epitope groups recognized by 26 polyclonal human anti-fVIII inhibitor plasmas were identified |
|
31. |
there are associations between several AQP2 SNPs and the risk of venous thrombosis, and weak associations with arterial blood pressure, but not with plasma levels of VWF propeptide, VWF or FVIII |
|
32. |
An observational study of sucrose-formulated recombinant factor VIII for Japanese patients with haemophilia A. |
|
33. |
Greater plasma fibrinogen and, to some degree, von Willebrand factor were associated with increased rates of hemorrhagic stroke in these prospective studies, whereas Factor VIII was related to it in younger ARIC study participants only |
|
34. |
study identified a recurrent F8 gene mutation in Irish haemophilia A patients; the same missense point mutation, c.1649 G>A in exon 11, was identified in 13 of 69 (18.8%) kindreds; all 13 individuals were found to have an identical F8 gene haplotype |
|
35. |
Describe an immunoassay for simultaneous detection and epitope mapping of anti-factor VIII antibodies. |
|
36. |
factor VIIIa is inactivated by activated protein C in the presence of its cofactors, protein S and factor V |
|
37. |
An extended Cryo-electron microscopy study to follow the factor VIII binding to phosphatidylserine containing lipid nanotubes at different lipid composition was undertaken. |
|
38. |
FVIII plays a role in regulating proteolytic processing of von Willebrand factor (VWF) by ADAMTS13 under shear stress, which depends on the high-affinity interaction between FVIII and its carrier protein, VWF. |
|
39. |
Structural model provides insight into the activation of factor VIII and the interaction of factor VIIIa with factor IXa on the membrane surface. |
|
40. |
Electrophilic-FVIII is a prototype reagent able to attain irreversible and specific inactivation of pathogenic antibodies. |
|
41. |
analysis of the residues contributing to A2 domain-dependent structural stability in factor VIII and factor VIIIa |
|
42. |
a novel G-to-A mutation in intron 10 of the F8 gene is a putative cause of mild hemophilia A in southern Italy. |
|
43. |
Persistent factor VIII-dependent factor X activation on endothelial cells is independent of von Willebrand factor |
|
44. |
Unreported mutations are distributed throughout the F8 gene and they affected all F8 exons but exon 20 in Italian hemophilia a patients. |
|
45. |
study reports 4 individuals with the Tyr346-->Cys mutation; mean FVIII:C1 level was 25 IU dL(-1) compared with a mean FVIII:C2 level of 63 IU dL(-1); these individuals presented opportunistically & did not have a clinically significant bleeding disorder |
|
46. |
the binding sites for VLDLR (very low density lipoprotein receptor) and LRP (low-density lipoprotein receptor-related protein) within Factor VIII overlap and the A2 site becomes exposed upon physiological activation of Factor VIII. |
|
47. |
Mapped factor VIII B-cell epitopes recognized by monoclonal antibody ESH8. |
|
48. |
Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.( |
|
49. |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
|
50. |
CD91 and other members of the LDL receptor family are not strongly implicated in FVIII internalization by monocyte-derived dendritic cells |
|
51. |
Increased levels of Factor VIII occurred in the precursors of cardiac myocytes, smooth muscle and endothelial cells in normal and post-ischemic hearts. |
|
52. |
Using FVIII-deficient plasma as a model of reduced thrombin generation, we demonstrate that low antithrombin levels enhance in vitro hemostatic responses to rFVIIa. |
|
53. |
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. |
|
54. |
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) |
|
55. |
Observational study of genotype prevalence and genetic testing. (HuGE Navigator) |
|
56. |
Observational study of genetic testing. (HuGE Navigator) |
|
57. |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
|
58. |
Observational study of gene-disease association. (HuGE Navigator) |
|
59. |
Observational study of genotype prevalence. (HuGE Navigator) |
|
60. |
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 |
|
61. |
Two haplotypes in FVIII and one in FXIIIa1 were significantly associated with increased ischemic stroke risk |
|
62. |
causative mutation of hemophilia A is -219C>T in the promoter region and is found in a family pedigree |
|
63. |
A2 domain of factor VIII interacts with low-density lipoprotein-related proteins via multiple binding sites. |
|
64. |
Demonstrate the efficacy and safety of sucrose formulated recombinant FVIII during normal clinical use in the treatment of patients with severe haemophilia A. |
|
65. |
Cathepsin G from neutrophils and monocytes may provide some pro-coagulant effect by activating FVIII. |
|
66. |
the C1 domain of FVIII contributes to platelet-binding affinity |
|
67. |
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. |
|
68. |
hereditary haemorrhagic telangiectasia (HHT)-related elevation of FVIII:Ag levels may influence thrombotic risk in HHT |
|
69. |
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 |
|
70. |
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. |
|
71. |
plasma-derived FVIII induces lower levels of inhibitors than rFVIII, and that VWF is an immuno-chaperone molecule for FVIII |
|
72. |
Duplications involving int22h-1 of the factor VIII gene may mask point mutations in hemophilia A |
|
73. |
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. |
|
74. |
28 new mutations of factor VIII are described, among 109 Andalusian hemophilia A patients. |
|
75. |
Used FVIII-deficient plasma to detect FVIII-dependent activated protein resistance. |
|
76. |
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. |
|
77. |
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 |
|
78. |
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) |
|
79. |
inversion with concomitant deletion and insertion events in the coagulation factor VIII gene may be a mechanism for X-chromosomal rearrangements causing hemophilia A |
|
80. |
A total of 47 different hemophilia A causative FVIII mutations have been identified, 26 of which are described for the first time. |
|
81. |
the relationship between ischemic stroke and increased factor VIII levels in children is doubtful. |
|
82. |
occurrence of high levels associated with stroke in a 5-year old girl |
|
83. |
Competitive ELISAs suggested that F2200 plays a more important role in both phospholipid-binding and vWF-binding than N2198 and M2199. |
|
84. |
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. |
|
85. |
Eleven pathological changes in the factor VIII sequence detected in male patients with haemophilia A or in female obligate carriers. |
|
86. |
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 |
|
87. |
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. |
|
88. |
review of role of factor VIIIa to markedly increase the catalytic efficiency of factor IXa in the activation of factor X |
|
89. |
REVIEW: Molecular defects in coagulation Factor VIII and their impact on Factor VIII function. |
|
90. |
The activation of procofactor VIII to factor VIIIa increases the affinity of binding to platelets of both factor VIIIa and factor X. |
|
91. |
elevated levels of FVIII:C put patients at increased risk for both venous and arterial thrombosis |
|
92. |
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. |
|
93. |
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 |
|
94. |
Addition of von Willebrand factor//factor VIII complex increased platelet adhesion to the collagen surface in platelet-reduced blood plattelets to normal levels. |
|
95. |
Cofactor activities of factor VIIIa and A2 subunit following cleavage of A1 subunit at Arg336 |
|
96. |
mutations in the F8 gene have roles in severe hemophilia A |
|
97. |
the factor XIII Val34Leu mutation is dependent on fibrinogen for its preventive effect in deep venous thrombosis |
|
98. |
factor VIII has a Ca2+ binding site required for cofactor activity in the A1 domain |
|
99. |
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 |
|
100. |
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. |
|
101. |
Large gene rearrangements of introns of the factor VIII gene in severe hemophilia A. |
|
102. |
The intron 1 factor VIII gene inversion was found in 1 of 20 in a population of Italian hemophilia A patients. |
|
103. |
The factor VIII gene intron 1 inversion mutation: prevalence in severe hemophilia A patients in the UK. |
|
104. |
high FVIII levels in venous thromboembolism represent a complex trait caused by several genetic factors. |
|
105. |
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. |
|
106. |
the association between Val34Leu polymorphism and coronary artery disease (Meta-Analysis) |
|
107. |
demonstrate that entry of FVIII into human dendritic cells (DC) leading to T cell activation, is mediated by mannose-terminating glycans on FVIII |
|
108. |
hemophilic mutations across the factor VIII C2 domain have variable effects on stability and von Willebrand Factor-binding activities |
|
109. |
analysis of FVIII mutations in haemophilia A patients |
|
110. |
elevated factor (F)VIII:C plasma levels are a risk factor for early recurrent miscarriages |
|
111. |
Factor VIIIc may play a role in the development of venous thromboembolism in factor V Leiden carriers |
|
112. |
LMAN1 and MCFD2 form a cargo receptor complex and the primary sorting signals residing in the B domain direct the binding of factor VIII |
|
113. |
high levels of coagulation FXI, FIX and FVIII are related to risk of inherited thrombophilia syndrome |
|
114. |
review of the response of T- and B-cells to transfused Factor VIII, epitope mapping, and the mechanism of inhibition of F8 by alloantibodies |
|
115. |
Effect of deficiency on generation of thrombin |
|
116. |
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. |
|
117. |
Mutagenecity studies suggests that the entire tightly packed hydrophobic core within the predicted pseudo-threefold axis contributes to stabilization of FVIIIa. |
|
118. |
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. |
|
119. |
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. |
|
120. |
review of protein structure and effect of factor VIII [review] |
|
121. |
a missense mutation in factor VIII gene may have a role in hemophilia A diagnosed in a female with Swyer syndrome [case report] |
|
122. |
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. |
|
123. |
Fourteen of the 21 females were confirmed to be carriers. |
|
124. |
Results show that factor VIII ectopically targeted to platelets is therapeutic in hemophilia A with high-titer inhibitory antibodies. |
|
125. |
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. |
|
126. |
Ten representative three-dimensional models of the FVIIIa-FIXa complex are presented based on agreements with known experimental data and according to structural criteria. |
|
127. |
A founder factor VIII mutation, valine 2016 to alanine, was found in a Newfoundland population with an extraordinarily high prevalence of mild hemophilia A. |
|
128. |
No mutations at the APC interacting sites exons 8, 11, & 19) of factor VIII were found in Caucasians with recurrent deep venous thrombosis. |
|
129. |
epitope specificity, FVIII antibody mechanism of FVIII inactivation, and their relationship with FVIII genetic alterations |
|
130. |
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. |
|
131. |
Seven novel mutations causing severe, moderate and mild Hemophilia A. |
|
132. |
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 |
|
133. |
Forty-one novel causative factor VIII gene mutations have been identified and classified in hemophiliacs. |
|
134. |
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 |
|
135. |
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. |
|
136. |
Polymerized fibrin can function as a platelet co-stimulus, up-regulating expression of binding sites for FVIIIa |
|
137. |
95 novel mutations within the coalgulation factor VIII gene are associated with hemophilia A. |
|
138. |
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. |
|
139. |
Activation by thrombin dramatically increased fVIII affinity for LDL but not HDL, which may be related to differences in phospholipid composition of the LPs. |
|
140. |
Following the the fate of the chimeric embryo in a blastomere marked with the human blood coagulation factor VIII (hFVIII in rabbit germline. |
|
141. |
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 |
|
142. |
analysis of novel mutations in the factor VIII gene in Indian patients with hemophilia A |
|
143. |
in the presence of Ca2+, phospholipid, and FVIIIa, binding of Na+ to factor IXa increases its biologic activity |
|
144. |
cupredoxin-like A1 subdomains in fVIII contain inter-species differences that are a result of selective pressure on the dissociation rate constant |
|
145. |
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. |
|
146. |
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. |
|
147. |
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 |
|
148. |
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. |
|
149. |
analysis of epitope repertoire of coagulation factor VIII in hemophilia A patients and healthy subjects |
|
150. |
Cause of hemophilia A is either absence or rapid degradation of the F8 mRNA. |
|
151. |
venous thromboembolism patients showed a significantly higher plasma FVIII/VWF ratio |
|
152. |
factor VIII coagulant activity is restored by exon skipping in patients with mild hemophilia A with exon 13 duplication |
|
153. |
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 |
|
154. |
3-Dimensional structure of membrane-bound coagulation factor VIII from electron crystallography |
|
155. |
mutation, or lack of mutation in this protein in hemophilia A |
|
156. |
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 |
|
157. |
coagulation factor VIII has a specific domain (A3) for binding low density lipoprotein receptor-related protein and factor IXa |
|
158. |
Disease-causing alterations within the F8 gene were identified in 177 hemophilia A families of Portuguese origin. |
|
159. |
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. |
|
160. |
formation of TF-FVIIa-FXa complex prevents apoptosis in breast cancer cells by a thrombin-independent pathway |
|
161. |
FXIII-A is expressed in leukemic lymphoblasts |
|
162. |
inactivating mutations in MCFD2 cause combined deficiency of factor V and factor VIII with a phenotype indistinguishable from that caused by mutations in LMAN1 |
|
163. |
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 |
|
164. |
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. |
|
165. |
FVIII152-159 represents a dominant CTL epitope |
|
166. |
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. |
|
167. |
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 |
|
168. |
document crucial roles for von Willebrand factor and FVIII in experimental thrombosis under venous flow conditions in vivo |
|
169. |
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. |