Hemophilia A mutations associated with 1-stage/2-stage activity discrepancy disrupt protein-protein interactions within the triplicated A domains of thrombin-activated factor VIIIa.
about
Clinical and laboratory approaches to hemophilia aNew high-technology products for the treatment of haemophilia.Structural investigation of zymogenic and activated forms of human blood coagulation factor VIII: a computational molecular dynamics studyMolecular defects in coagulation Factor VIII and their impact on Factor VIII function.In vitro and In vivo Model Systems for Hemophilia A Gene Therapy.Lentiviral vector platform for production of bioengineered recombinant coagulation factor VIIIMild hemophilia A.Increasing hydrophobicity or disulfide bridging at the factor VIII A1 and C2 domain interface enhances procofactor stability.Molecular mechanisms of mild and moderate hemophilia A.Contribution of A1 subunit residue Q316 in thrombin-activated factor VIII to A2 subunit dissociation.Generation of enhanced stability factor VIII variants by replacement of charged residues at the A2 domain interface.New approaches in the measurement of coagulation.Mild/moderate haemophilia A: new insights into molecular mechanisms and inhibitor development.Joint protection in haemophilia.Chromogenic factor VIII activity assay.A critical appraisal of one-stage and chromogenic assays of factor VIII activity.Identification of residues contributing to A2 domain-dependent structural stability in factor VIII and factor VIIIaFactor VIII assay mimicking in vivo coagulation conditions.High level expression of recombinant porcine coagulation factor VIII.An in silico and in vitro approach to elucidate the impact of residues flanking the cleavage scissile bonds of FVIII.Cross-reacting Material-positive Hemophilia A Diagnosed in a Patient with a Spontaneous Thigh HemorrhageCombining mutations of charged residues at the A2 domain interface enhances factor VIII stability over single point mutationsStabilizing interactions between D666-S1787 and T657-Y1792 at the A2-A3 interface support factor VIIIa stability in the blood clotting pathway.Characterization of F8 defects in haemophilia A in Pakistan: investigation of correlation between mutation type and the in vitro thrombin generation assay.Intrinsic stability and functional properties of disulfide bond-stabilized coagulation factor VIIIa variants.Diagnosis and management challenges in patients with mild haemophilia A and discrepant FVIII measurements.Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions.In vitro kinetics of factor VIII activity in patients with mild haemophilia A and a discrepancy between one-stage and two-stage factor VIII assay results.Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity.The expanding menagerie: animal models of hemophilia A.Chromogenic Factor VIII Assays for Improved Diagnosis of Hemophilia A.Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype.A recurrent F8 mutation in Irish haemophilia A patients: evidence for a founder effect.Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis/activity.The identification and classification of 41 novel mutations in the factor VIII gene (F8C).Method validation and clinical utility of chromogenic factor VIII assay compared to one-stage assay.Discrepant factor VIII activity in a family with mild haemophilia A and 531 mutation using various FVIII assays and APTT reagents.Genotypic and phenotypic features of Japanese patients with mild to moderate hemophilia A.A Tyr346-->Cys substitution in the interdomain acidic region a1 of factor VIII in an individual with factor VIII:C assay discrepancy.Differential contributions of Glu96, Asp102 and Asp111 to coagulation factor V/Va metal ion binding and subunit stability.
P2860
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P2860
Hemophilia A mutations associated with 1-stage/2-stage activity discrepancy disrupt protein-protein interactions within the triplicated A domains of thrombin-activated factor VIIIa.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh-hant
name
Hemophilia A mutations associa ...... rombin-activated factor VIIIa.
@en
Hemophilia A mutations associa ...... rombin-activated factor VIIIa.
@nl
type
label
Hemophilia A mutations associa ...... rombin-activated factor VIIIa.
@en
Hemophilia A mutations associa ...... rombin-activated factor VIIIa.
@nl
prefLabel
Hemophilia A mutations associa ...... rombin-activated factor VIIIa.
@en
Hemophilia A mutations associa ...... rombin-activated factor VIIIa.
@nl
P2093
P921
P356
P1433
P1476
Hemophilia A mutations associa ...... rombin-activated factor VIIIa.
@en
P2093
Eickhorst AN
Kaufman RJ
Kemball-Cook G
P304
P356
10.1182/BLOOD.V97.3.685
P407
P577
2001-02-01T00:00:00Z