Property Summary

NCBI Gene PubMed Count 226
PubMed Score 3414.79
PubTator Score 3413.19

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -2.800 1.5e-12

Gene RIF (140)

PMID Text
27529981 Mutations were revealed in 56 unrelated patients with hemophilia B in this study by using direct sequencing of factor IX gene functionally important fragments.
26023895 Data suggest that Gly317 plays role in normal catalytic function for FIX/FIXa in the clotting cascade; mutations in Gly317 (G317R, G317E) result in variable severity of bleeding in hemophilia B patients.
25851619 Selective disruption of exosite-mediated regulation of factor IX by heparin and antithrombin can be achieved with preserved or enhanced thrombin generation capacity.
25582609 study revealed six unique and unreported changes in the F9 gene among haemophilia B patients from Macedonia and Bulgaria
25470321 We conclude that the nature of the F9 gene mutation may be an important risk factor for the development of inhibitors.
25402191 The Cys109Tyr F9 mutation found in two siblings and their mother, is a missense mutation previously described in two patients with hemophilia B, but first in Korea.
25224783 Activatable bioengineered FIX molecules with FVIII-independent activity might be a promising tool for improving hemophilia A treatment, especially for patients with inhibitors.
25163770 Describe inhibition of tissue factor:factor VIIa-catalyzed factor IX and factor X activation by TFPI and TFPI constructs.
25157807 All four domains of FIXa wrap across FVIIIa that spans the co-factor binding surface of A2, A3 and C1 domains.
24816826 repetitive elements and non-B DNA forming motifs contribute to deletion mutations in severe haemophilia B
24759143 This review discuss structural features of factor XIa that are required for factor IX activation, and the importance of the protease's dimeric structure. [review]
24679056 Report oral FIX gene transfer strategy for hemophilia B.
24656159 11 FIX gene mutations (8 point mutations, 2 small deletions/insertions, and 1 large deletion), including two novel mutations (exon6 c.687-695, del 9 mer and c.460-461, ins T) were found.
24564349 Differentiation studies demonstrated osteogenic (but not chondrogenic or adipogenic) differentiation capability and efficient FIX secretion of the enclosed MSCs in the fibronectin-alginate suspension culture.
24498168 Circulating contact-pathway-activating microparticles together with factors IXa and XIa induce spontaneous clotting in plasma of hematology and cardiologic patients.
24375831 87 unique mutations (9 novel) were found in 225 American hemophilia B patients. c.316G>A, c.1025C>T, and c.1328T>A accounted 37.1%. Only those with large deletions and nonsense mutations had inhibitors.
24261420 Various factor IX mutations have been identified in Chinese hemophilia B patients.
24136406 Thrombin-mediated, TAFI-dependent down-regulation of fibrinolysis provides new clues for explaining the heightened thrombotic risk in subjects carrying the FIX-Padua mutation.
24124147 Elevated factor IX activity is associated with an increased odds ratio for both arterial and venous thrombotic events.
24068708 The allosteric mechanism of activation of antithrombin as an inhibitor of factor IXa and factor Xa: heparin-independent full activation through mutations adjacent to helix D.
24030831 Replacing the factor VIII C1 domain with a second C2 domain reduces factor VIII stability and affinity for factor IXa.
23884417 the glycan at 1810 is not involved in FVIII cofactor function, and that Phe-1816 of region 1811-1818 contributes to FIXa binding. Both regions 1803-1810 and 1811-1818 contribute to FVIIIa stability.
23617593 Report interactive database providing insights into mechanisms of hemophilia B.
23617568 The results suggest the Omega-loop of FIX binds to an area on FXIa composed of residues from the N-terminus and C-terminus of the A3 domain. These residues are buried in zymogen FXI, and must be exposed upon conversion to FXIa to permit FIX binding.
23585459 These results demonstrate that coagulation kinetics for circulating tissue factor particles are controlled by factor IX and X levels within the normal physiological range.
23580639 a high affinity interaction between the FVIIIa A2 subunit and FIXa and show a contribution of several residues within the 707-714 sequence to this binding.
23530052 structural features within residues of the 39-loop contribute to the resistance of FIXa to inhibition by plasma inhibitors ZPI and TFPI.
23472758 Mutations at the -5/-6 site (nucleotides -5 and -6 relative to the transcription start site, designated 1) of the F9 promotor account for the majority of hemophilia B Leyden cases and disrupt the binding of ONECUT transcription factors.
23446552 Letter: report factor IX activity/antigen ratio in relation to risk of first unprovoked venous thromboembolism.
23410583 Data indicate that five nanofilters can be used interchangeably to yield a high purity Coagulation Factor IX product.
23093250 Report causative F9 mutations in Argentine families with hemophilia B and determine mutation-associated FIX inhibitor risks.
23054460 The effect of surface contact activation and temperature on plasma coagulation with an RNA aptamer directed against factor IXa.
23014580 investigated the contribution of the NH2-terminal EGF-domain (EGF1) to the recognition specificity of intrinsic tenase by constructing an EGF1 deletion mutant and characterising the properties of the mutant in kinetic, direct binding and FRET assays
22961984 Results indicate that fXIa activates fIX by an exosite- and Ca(2+)-mediated release-rebind mechanism.
22870602 factor IX mutations were identified in either the exon or intronic regions in haemophilia B patients in Malaysia; one novel mutation, 6660_6664delTTCTT was identified in siblings with moderate form of haemophilia B
22639855 The results suggest that information at the mRNA level as well as conservation of amino acids of coagulation factor IX correlate well with disease severity.
22618954 Western blotting of plasma from FIX deficient (Hemophilia B) patients revealed traces of full-length FIX for the p.R294* and p.R298* mutations, but not for the p.L103* mutation that triggered major FIX mRNA decay.
22544209 The F9 mutations were heterogenous and the missense mutations were the most prevalent gene defects in Chinese haemophilia B patients.
22471307 Heme binds to factor VIII and inhibits its interaction with activated factor IX.
22281721 The disposition of FIX was well described by a three-compartment PK model.
22212890 Results demonstrate the role of plasticity in regulating FIXa function with respect to discrimination of extended substrate sequences.
22207756 Partial reduction of FXIa/S557A to produce heavy and light chains resulted in decreased FIX binding, and this function was regained upon reformation of the disulfide linkage between the heavy and the light chains.
22057218 A number of 513 consecutive patients (494-haemophilia A and 19-haemophilia B) from eight haemophilia treatment centers have been investigated with Bethesda assay for the presence of factor VIII or IX inhibitors.
21976659 The authors demonstrate that coagulation factor IX (FIX) efficiently enhances binding and infection by human species A adenoviruses 18 and 31, but not by 12, in epithelial cells originating from the airways or intestine.
21305775 characterizing intragenic gene polymorphisms of the clotting factor IX, helped to identify and assign haplotypes, to diagnose or to exclude the carrying condition, to 95% of women who were needing the study for HA and to 100% for HB
20885981 hnRNP A3 is a major liver nuclear protein binding to age related increase element of the factor IX gene.
20695909 three novel mutations in factor IX in patients with haemophilia B
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20628058 Role of the residues of the 39-loop in determining the substrate and inhibitor specificity of factor IXa.
20539913 Engineered recombinant FIX-Triple improves hemostasis but is not thrombogenic at therapeutic levels and is a potential therapeutic substitute for wild type FIX.
20346360 Observational study of gene-disease association. (HuGE Navigator)
20128871 Observational study of gene-disease association. (HuGE Navigator)
20004170 crystal structure of Xase-like fIXa variants showing synergistic conformational activation; reveals how cofactor-triggered and substrate-assisted modulation in factor IXa 99- and 60-loops cooperate in S4 through S2'formation allowing substrate recognition
19930472 a haemophilia B Leyden phenotype associated with the -23C>T promoter mutation of the F9 gene
19913121 Observational study of gene-disease association. (HuGE Navigator)
19817987 Mg2+ enhances FIXa binding to PL at physiologic concentrations of Ca2+
19699296 F9 missense mutations were divided into 3 clusters based on the mean deviation about the geometric mean using unsupervised clustering. 2 had phenotypic plasticity & 1 with little variation. Sequence & structural properties were analyzed.
19656280 FIXa-Y94F/K98T/Y177F/I213V/E219G (FIXa-L) and FIXa-Y94F/A95aK/K98T/Y177F/I213V/E219G (FIXa-M) activated FX with catalytic efficiencies (k(cat)/K(m)) that, as compared with activated pdFIX, were increased 17-fold and six-fold, respectively.
19617576 Elevated level of factor IX is associated with venous thromboembolism.
19416882 age-related homeostasis mechanism is essential for spontaneous amelioration of hemophilia B Leyden
19404534 In-vitro evaluation of anti-factor IXa aptamer on thrombin generation, clotting time, and viscoelastometry.
19357501 17 new mutations were found among 57 mutations from hemophilia B patients in western India.
19357501 Observational study of gene-disease association. (HuGE Navigator)
19286883 The F9 Malmo sequence variant of factor IX was the most strongly associated with deep vein thrombosis among common single-nucleotide polymorphisms in the region.
19286883 Observational study of gene-disease association. (HuGE Navigator)
19262239 Presence of more than 70% of mutations in exon H of the factor IX gene allows us to adopt a cost effective screening strategy in offering genetic diagnosis to the affected families.
19262239 Observational study of gene-disease association. (HuGE Navigator)
19158249 By using a set of binding and infection experiments, the authors found that Ad5 and Ad31 require coagulation factors IX (FIX) or X (FX) or just FIX, respectively, for efficient binding and infection.
19047063 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
18647957 the heparin-binding exosite of factor IXa is a critical regulator of plasma thrombin generation and venous thrombosis
18624698 the mutation spectrum of F9 in Korean patients with haemophilia B
18600094 Factor IX gene haplotypes and its relevance for the indirect genetic analysis of haemophilia B in its Indian perspective
18459950 mutation G17736A/Val107Val causes mild haemophilia B
18449417 Describe proliferation of FIX-producing human hepatocytes in mouse liver.
18434706 Homozygous C17761T (R116X)led to a severe phenotype in a girl from a consanguineous marriage. Her male first cousin & other male relatives were also affected. Haplotype analysis was informative at the HhaI polymorphic site for the female patient.
18393396 A quantitative overview of differential parameterization of sequence-based and structural constraints among mutations with and without phenotypic heterogeneity in the Factor IX gene was presented.
18293119 We present a Swiss family with two patients who suffered major bleedings under oral anticoagulant treatment.In both patients a mutation in the propeptide of FIX at locus -10 with substitution of alanine by threonine was found.
18192270 two forms of activated factor XI are generated during coagulation, and each half of a factor XIa dimer behaves as an independent enzyme with respect to factor IX
18179572 effect of Asn92 mutations in coagulation factor IX
17985356 study identified the first FIX mutations (two novel) in Albanian hemophilia B patients
17882724 The hFIX expression mediated by Recombinant AAV serotype 8 injected intramuscularly was compared with that by Recombinant AAV serotype 1.
17563121 factor IXa heparin-binding exosite participates in both cofactor binding and protease activation, and cofactor affinity is linked to active site conformation and factor X interaction during enzyme assembly.
17414217 REVIEW: The platelet adhesion receptor, the glycoprotein Ib-IX-V complex, not only mediates platelet adhesion but also transmits signals leading to platelet activation, aggregation and secretion
17397055 Observational study of genotype prevalence. (HuGE Navigator)
17397055 study characterized hemophiliac families from Northern India & identified 3 novel mutations; provided a snapshot of allelic heterogeneity in India with plausible genotype phenotype correlations; analyzed distribution of Ala194Thr polymorphism
17308903 reports presence of common G10430A mutation in exon d of factor IX gene, wherein the highly conserved Gly 60 residue of the first epidermal growth like domain was changed to Ser in moderately severe to mild hemophilia B patients originating from Gujarat
17230038 the ability of FIX Ile66Thr to activate FX was impaired in both the presence and absence of FVIIIa, indicating that Ile66 is not directly involved in the binding of FIX to FVIIIa
17048007 Observational study of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17014892 molecular analysis of 76 unrelated Iranian haemophilia B patients was performed on important functional regions of the F9 gene followed by sequencing on samples with different migration pattern; we found mutation in 52 out of 76 patients
16939230 We conclude that contacts between EGF2 and the protease domain of FIXa are crucial for FIXa enzymatic activity and for the assembly of the FX-activating complex.
16839351 The heritable component of interindividual FIX:C variability likely involves a collection of QTLs with modest effects that may reside in genes other than F9; the alleles of 27 polymorphisms exhibited a low overall degree of linkage disequilibrium
16766524 factor IXa can be allosterically modulated by occupation of the heparin-binding exosite
16517611 results indicate that Tyr253 and Glu255 are key exosite determinants responsible for promoting the reactions of conformationally activated antithrombin with both factor Xa and factor IXa
16322469 Therapeutic levels of human FIX were achieved in nonhuman primates using an adeno-associated virus as a vector for gene therapy of hemophilia B.
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.
15921378 Observational study of gene-disease association. (HuGE Navigator)
15913649 in the presence of Ca2+, phospholipid, and factor VIIIa, binding of Na+ to factor IXa increases its biologic activity
15866866 analysis of factor IX(a) binding to Rhodnius nitrophorin 2
15842381 analysis of missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val)[letter]
15829482 factor IX binds initially to exosites on the factor XIa heavy chain, followed by interaction at the active site with subsequent bond cleavage
15634274 EGF-like domains of factor Xa and factor IXa are important for the activation of the factor VII--tissue factor complex
15590401 2 new point mutations and a new deletion were found in hemophilia B families from northern India.
15581349 A proposed model of the interaction of factor IX peptide comprised of amino acids Gly4-Gln11 enables correlation of known hemophilia B mutations of factor IX at Lys5 or Phe9 with impaired phosphatidylserine interaction.
15456490 Glu555 alters the electrostatic charge around the active site, and would sterically interfere with the interaction between the FXIa site and residues on F9 and antithrombin. FXI-Glu555 is the first reported FXI variant with a defect in FIX activation.
15383460 H-2 (and other) genes control factor IX antibody development in mice.
15328360 residues Asn89, Ile90, and Val107 within loops 1 and 2 (Cys88-Cys109) of the EGF2 domain of factor IXa are essential for normal interactions with the platelet surface and for the assembly of the factor X-activating complex on activated platelets
15326167 the antithrombin hinge region extension is the activating conformational change for inhibition of factors IXa and Xa
15219198 results strongly suggest that chaperone and lectin molecules act in concert to ensure both proper folding of FIXwt and the retention of mutant molecules
15183040 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
15183040 two common intragenic markers (TaqI and XmnI) in Iranian haemophilia B families
15009460 FIX gene seems to be intact in the derivative 14, the breakpoint may affect an upstream regulatory sequence that subjects the gene to position effect variegation in hemophilia.
14963035 IXabeta functions within the intrinsic Xase complex to activate X and may play a significant role in producing Xa necessary for the procoagulant response following vascular damage
14722079 complex structure shows that the complementarity determining region loops of the 10C12 antibody form a hydrophobic pocket to accommodate the hydrophobic patch of the Gla domain consisting of Leu-6, Phe-9, and Val-10.
14660587 binding of the factor IX gamma-carboxyglutamic acid domain to the vitamin K-dependent gamma-glutamyl carboxylase active site has a role in carboxylation and regulation of release of carboxylated product
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.
14567539 Review. The FXI gene is encodes a 607 AA zymogen for a serine protease. The serine protease domain is similar many other coagulation factors; the heavy chain contains 4 tandem Apple domains. FXI is a homodimer, which essential for normal function.
14532267 findings suggest that antithrombin exosites responsible for enhancing the rates of factor Xa and factor IXa inhibition in the conformationally activated inhibitor lie in strand 3 of beta-sheet C of the serpin
14521595 high levels of coagulation FXI, FIX and FVIII are related to risk of inherited thrombophilia syndrome
12871503 the addition of the cytoplasmic domain of P-selectin to FIX modifies the cellular fate of the FIX molecule by directing the recombinant protein toward regulated-secretory granules without altering its coagulant activity
12871416 the Pro55Ser mutation causes hemophilia primarily through to an impaired ability to activate FX whereas at least in vitro the Pro55Leu defect interferes with the activation of FIX.
12824704 randomly unpredictable amino acid pairs are more sensitive to variants
12768436 Observational study of genotype prevalence. (HuGE Navigator)
12570162 A model of the FIXa-FVIIIa complex was constructed and indicated that EGF1 of FIXa does not interact directly with FVIIIa.
12522212 activated coagulation factor IX binds to low density lipoprotein receptor-related protein via residues phe342-asn346
12522143 Low density lipoprotein receptor-related protein and factor IXa share structural requirements for binding to the A3 domain of coagulation factor VIII
12513796 Observational study of genotype prevalence. (HuGE Navigator)
12513796 restriction fragment length polymorphisms of FIX gene may be useful markers for carrier detection and prenatal diagnosis in Chinese families with hemophilia B patients
12496253 role of factor IX gamma-carboxyglutamic acid domain in interactions between factor IX and factor XIa
12192300 F9 is activated by interaction with the erythrocyte membrane, causing intrinsic coagulation
12167623 Data show that the rate of factor IX activation by factor XIa is not enhanced by biological surfaces, and activated platelet surfaces are thrombogenic while endothelial surfaces are not.
12152682 a three-dimensional model of the ternary complex between FVIIa:TF:FIX was built using a full-space search algorithm in combination with computational graphics
12105230 determination of role of EGF1 of activated factor IX in direct binding to activated factor VIII
12070021 Circulating and binding characteristics of human wild-type factor IX and certain Gla domain mutants injected into factor IX-deficient mice in in vivo models and applied to human artery specimens.
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.
11925427 role of EGF-like domains in stimulation by factor VIIIa and it's isolated A2 domain
11754413 Observational study of genotype prevalence. (HuGE Navigator)
11754103 Mutations in the factor IX gene (F9) during the past 150 years have relative rates similar to ancient mutations.
11583320 Asn346Asp results in dysfunctional protein with defective factor VIIIa interaction.
11396323 Observational study of genetic testing. (HuGE Navigator)
11122405 Observational study of genotype prevalence. (HuGE Navigator)

AA Sequence

MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECMEEKCS      1 - 70
FEEAREVFENTERTTEFWKQYVDGDQCESNPCLNGGSCKDDINSYECWCPFGFEGKNCELDVTCNIKNGR     71 - 140
CEQFCKNSADNKVVCSCTEGYRLAENQKSCEPAVPFPCGRVSVSQTSKLTRAETVFPDVDYVNSTEAETI    141 - 210
LDNITQSTQSFNDFTRVVGGEDAKPGQFPWQVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAG    211 - 280
EHNIEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLELDEPLVLNSYVTPICIADKEYTNIFLKFGS    281 - 350
GYVSGWGRVFHKGRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGGRDSCQGDSGGPHVTEVE    351 - 420
GTSFLTGIISWGEECAMKGKYGIYTKVSRYVNWIKEKTKLT                                 421 - 461
//

Text Mined References (237)

PMID Year Title
27529981 2016 [Mutational Analysis of Hemophilia B in Russia: Molecular-Genetic Study].
26023895 2015 Expression and Characterization of Gly-317 Variants of Factor IX Causing Variable Bleeding in Hemophilia B Patients.
25851619 2015 Selective disruption of heparin and antithrombin-mediated regulation of human factor IX.
25582609 2015 Identification of six novel F9 mutations among haemophilia B patients from Macedonia and Bulgaria.
25470321 2015 Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.
25456591 2014 Identification of protein O-glycosylation site and corresponding glycans using liquid chromatography-tandem mass spectrometry via mapping accurate mass and retention time shift.
25402191 2015 Maternal low-level somatic mosaicism of Cys155Tyr of F9 in severe hemophilia B.
25251685 2014 Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations.
25224783 2014 Next generation FIX muteins with FVIII-independent activity for alternative treatment of hemophilia A.
25163770 2014 Inhibition of tissue factor:factor VIIa-catalyzed factor IX and factor X activation by TFPI and TFPI constructs.
25157807 2014 Structural insights into the interaction of blood coagulation co-factor VIIIa with factor IXa: a computational protein-protein docking and molecular dynamics refinement study.
24816826 2014 Characterisation of large F9 deletions in seven unrelated patients with severe haemophilia B.
24759143 2014 The mechanism underlying activation of factor IX by factor XIa.
24679056 2014 Oral gene therapy for hemophilia B using chitosan-formulated FIX mutants.
24656159 2014 Efficient detection of factor IX mutations by denaturing high-performance liquid chromatography in Taiwanese hemophilia B patients, and the identification of two novel mutations.
24564349 2015 Fibronectin-Alginate microcapsules improve cell viability and protein secretion of encapsulated Factor IX-engineered human mesenchymal stromal cells.
24498168 2014 Circulating contact-pathway-activating microparticles together with factors IXa and XIa induce spontaneous clotting in plasma of hematology and cardiologic patients.
24375831 2014 Mutation analysis of a cohort of US patients with hemophilia B.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24261420 2014 Factor IX mutations in hemophilia B patients from Liaoning Province, China.
24136406 2014 Factor IX-Padua enhances the fibrinolytic resistance of plasma clots.
24124147 2013 Elevated factor IX activity is associated with an increased odds ratio for both arterial and venous thrombotic events.
24068708 2013 The allosteric mechanism of activation of antithrombin as an inhibitor of factor IXa and factor Xa: heparin-independent full activation through mutations adjacent to helix D.
24030831 2013 Replacing the factor VIII C1 domain with a second C2 domain reduces factor VIII stability and affinity for factor IXa.
23884417 2013 A3 domain region 1803-1818 contributes to the stability of activated factor VIII and includes a binding site for activated factor IX.
23617593 2013 An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B.
23617568 2013 Analysis of the factor XI variant Arg184Gly suggests a structural basis for factor IX binding to factor XIa.
23585459 2013 Physiological levels of blood coagulation factors IX and X control coagulation kinetics in an in vitro model of circulating tissue factor.
23580639 2013 Factor VIIIa A2 subunit shows a high affinity interaction with factor IXa: contribution of A2 subunit residues 707-714 to the interaction with factor IXa.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23530052 2013 Residues of the 39-loop restrict the plasma inhibitor specificity of factor IXa.
23472758 2013 A CpG mutational hotspot in a ONECUT binding site accounts for the prevalent variant of hemophilia B Leyden.
23446552 2013 Factor IX activity/antigen ratio and the risk of first unprovoked venous thromboembolism.
23410583 2013 Protein sieving characteristics of sub-20-nm pore size filters at varying ionic strength during nanofiltration of Coagulation Factor IX.
23093250 2013 Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.
23054460 2013 The effect of surface contact activation and temperature on plasma coagulation with an RNA aptamer directed against factor IXa.
23014580 2012 Contribution of the NH2-terminal EGF-domain of factor IXa to the specificity of intrinsic tenase.
22961984 2012 A sequential mechanism for exosite-mediated factor IX activation by factor XIa.
22870602 2012 Factor IX mutations in haemophilia B patients in Malaysia: a preliminary study.
22639855 2012 Analysis of F9 point mutations and their correlation to severity of haemophilia B disease.
22618954 2012 Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations.
22544209 2012 Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations.
22471307 2012 Heme binds to factor VIII and inhibits its interaction with activated factor IX.
22281721 2012 Population pharmacokinetics of plasma-derived factor IX in adult patients with haemophilia B: implications for dosing in prophylaxis.
22212890 2012 Correlation of factor IXa subsite modulations with effects on substrate discrimination.
22207756 2012 Productive recognition of factor IX by factor XIa exosites requires disulfide linkage between heavy and light chains of factor XIa.
22057218 2011 Development of inhibitors in haemophilia. Ongoing epidemiological study.
21976659 2011 Coagulation factor IX mediates serotype-specific binding of species A adenoviruses to host cells.
21949356 2011 Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase.
21305775 2010 [Intragenic polymorphisms of factor VIII and IX genes and their utility in the indirect diagnosis of carriers of Haemophilias A and B].
20885981 2010 Heterogeneous nuclear ribonucleoprotein A3 is the liver nuclear protein binding to age related increase element RNA of the factor IX gene.
20695909 2011 FIX mutation spectrum in haemophilia B patients from Jordan: identification of three novel mutations.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20628058 2010 Role of the residues of the 39-loop in determining the substrate and inhibitor specificity of factor IXa.
20539913 2010 FIX-Triple, a gain-of-function factor IX variant, improves haemostasis in mouse models without increased risk of thrombosis.
20346360 2010 Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.
20128871 2010 Gene variants associated with venous thrombosis: confirmation in the MEGA study.
20121198 2010 Studies of benzothiophene template as potent factor IXa (FIXa) inhibitors in thrombosis.
20121197 2010 Structure based drug design: development of potent and selective factor IXa (FIXa) inhibitors.
20080729 2010 Molecular basis of factor IXa recognition by heparin-activated antithrombin revealed by a 1.7-A structure of the ternary complex.
20004170 2009 Structural basis of the cofactor- and substrate-assisted activation of human coagulation factor IXa.
19930472 2010 Clinical significance of two mutations in the factor IX gene in a family with haemophilia B.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19846852 2009 X-linked thrombophilia with a mutant factor IX (factor IX Padua).
19817987 2009 Contribution of magnesium in binding of factor IXa to the phospholipid surface: implications for vitamin K-dependent coagulation proteins.
19699296 2009 Hemophilia B is a quasi-quantitative condition with certain mutations showing phenotypic plasticity.
19656280 2009 Factor IX mutants with enhanced catalytic activity.
19617576 2009 Coagulation factors IX through XIII and the risk of future venous thrombosis: the Longitudinal Investigation of Thromboembolism Etiology.
19416882 2009 An age-related homeostasis mechanism is essential for spontaneous amelioration of hemophilia B Leyden.
19404534 2009 In-vitro evaluation of anti-factor IXa aptamer on thrombin generation, clotting time, and viscoelastometry.
19357501 2009 Spectrum of factor IX gene mutations causing haemophilia B from India.
19286883 2009 F9 Malmö, factor IX and deep vein thrombosis.
19262239 2009 Novel mutations in factor IX gene from western India with reference to their phenotypic and haplotypic attributes.
19158249 2009 Coagulation factors IX and X enhance binding and infection of adenovirus types 5 and 31 in human epithelial cells.
19047063 2009 The factor VIIIa C2 domain (residues 2228-2240) interacts with the factor IXa Gla domain in the factor Xase complex.
18647957 2008 The heparin-binding exosite of factor IXa is a critical regulator of plasma thrombin generation and venous thrombosis.
18624698 2008 Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B.
18600094 2008 Factor IX gene haplotypes and its relevance for the indirect genetic analysis of haemophilia B in its Indian perspective.
18459950 2008 Why does the mutation G17736A/Val107Val (silent) in the F9 gene cause mild haemophilia B in five Swedish families?
18449417 2008 Successful in vivo propagation of factor IX-producing hepatocytes in mice: potential for cell-based therapy in haemophilia B.
18434706 2008 Molecular analysis of factor IX gene in an Iranian female with severe hemophilia B.
18393396 2008 Sequence and structural properties of identical mutations with varying phenotypes in human coagulation factor IX.
18293119 2008 Congenital hypersensitivity to vitamin K antagonists due to FIX propeptide mutation at locus -10: a (not so) rare cause of bleeding under oral anticoagulant therapy in Switzerland.
18192270 2008 Characterization of Novel Forms of Coagulation Factor XIa: independence of factor XIa subunits in factor IX activation.
18179572 2008 Multiple substitutions at single site: interpreting the effect of Asn92 mutations in human coagulation factor IX.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17985356 2008 First factor IX mutations in Albanian hemophilia B patients.
17882724 2007 A comparative study of hFIX expression mediated by rAAV8 and rAAV1 administrated intramuscularly.
17563121 2007 The heparin-binding exosite is critical to allosteric activation of factor IXa in the intrinsic tenase complex: the role of arginine 165 and factor X.
17414217 2007 Signaling and regulation of the platelet glycoprotein Ib-IX-V complex.
17397055 2007 Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online.
17308903 2007 A common G10430A mutation (Gly 60 Ser) in the factor IX gene describes the presence of moderate and mild hemophilia B in the majority of the Gujarati population.
17230038 2006 Functional analysis of the factor IX epidermal growth factor-like domain mutation Ile66Thr associated with mild hemophilia B.
17048007 2007 Association of warfarin dose with genes involved in its action and metabolism.
17014892 2007 Identification of factor IX mutations in Iranian haemophilia B patients by SSCP and sequencing.
16939230 2006 The interface between the EGF2 domain and the protease domain in blood coagulation factor IX contributes to factor VIII binding and factor X activation.
16839351 2006 Genetic determinants of normal variation in coagulation factor (F) IX levels: genome-wide scan and examination of the FIX structural gene.
16766524 2006 Heparin modulates the 99-loop of factor IXa: effects on reactivity with isolated Kunitz-type inhibitor domains.
16517611 2006 Residues Tyr253 and Glu255 in strand 3 of beta-sheet C of antithrombin are key determinants of an exosite made accessible by heparin activation to promote rapid inhibition of factors Xa and IXa.
16322469 2006 Self-complementary adeno-associated virus vectors containing a novel liver-specific human factor IX expression cassette enable highly efficient transduction of murine and nonhuman primate liver.
16102111 2005 Molecular models of the procoagulant factor VIIIa-factor IXa complex.
15921378 2005 Molecular genotyping of the Italian cohort of patients with hemophilia B.
15913649 2005 Na+ site in blood coagulation factor IXa: effect on catalysis and factor VIIIa binding.
15866866 2005 Structural determinants of factor IX(a) binding in nitrophorin 2, a lipocalin inhibitor of the intrinsic coagulation pathway.
15842381 2005 Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val).
15829482 2005 Exosite-mediated substrate recognition of factor IX by factor XIa. The factor XIa heavy chain is required for initial recognition of factor IX.
15772651 2005 The DNA sequence of the human X chromosome.
15643612 2005 Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.
15634274 2005 The first epidermal growth factor-like domains of factor Xa and factor IXa are important for the activation of the factor VII--tissue factor complex.
15590401 2004 Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene.
15581349 2004 Lysine 5 and phenylalanine 9 of the factor IX omega-loop interact with phosphatidylserine in a membrane-mimetic environment.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15456490 2004 Severe factor XI deficiency caused by a Gly555 to Glu mutation (factor XI-Glu555): a cross-reactive material positive variant defective in factor IX activation.
15383460 2005 Mapping of genes that control the antibody response to human factor IX in mice.
15328360 2004 Identification of residues Asn89, Ile90, and Val107 of the factor IXa second epidermal growth factor domain that are essential for the assembly of the factor X-activating complex on activated platelets.
15326167 2004 Allosteric activation of antithrombin critically depends upon hinge region extension.
15219198 2004 Two novel mutations in EGF-like domains of human factor IX dramatically impair intracellular processing and secretion.
15183040 2004 Allele frequencies of two polymorphisms associated with the factor IX gene in Iranian population.
15039440 2004 The significance of circulating factor IXa in blood.
15009460 2004 Breakpoint of a balanced translocation (X:14) (q27.1;q32.3) in a girl with severe hemophilia B maps proximal to the factor IX gene.
14963035 2004 Formation of factors IXa and Xa by the extrinsic pathway: differential regulation by tissue factor pathway inhibitor and antithrombin III.
14722079 2004 Crystal structure of the calcium-stabilized human factor IX Gla domain bound to a conformation-specific anti-factor IX antibody.
14718574 2004 The human plasma proteome: a nonredundant list developed by combination of four separate sources.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14660587 2004 Binding of the factor IX gamma-carboxyglutamic acid domain to the vitamin K-dependent gamma-glutamyl carboxylase active site induces an allosteric effect that may ensure processive carboxylation and regulate the release of carboxylated product.
14629468 2003 Binding studies of the enzyme (factor IXa) with the cofactor (factor VIIIa) in the assembly of factor-X activating complex on the activated platelet surface.
14567539 2003 Factor XI deficiency--from molecular genetics to clinical management.
14532267 2003 Localization of an antithrombin exosite that promotes rapid inhibition of factors Xa and IXa dependent on heparin activation of the serpin.
14521595 2003 Thrombophilic families with inheritably associated high levels of coagulation factors VIII, IX and XI.
12871503 2003 The P-selectin cytoplasmic domain directs the cellular storage of a recombinant chimeric factor IX.
12871416 2003 Functional analysis of the EGF-like domain mutations Pro55Ser and Pro55Leu, which cause mild hemophilia B.
12824704 Random analysis of amino acid pairs sensitive to variants in human coagulation factor IX precursor.
12768436 2003 Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.
12604421 2003 Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene.
12588353 2003 Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations.
12570162 2002 Role of the N-terminal EGF module of coagulation factor IX in activation of factors IX and X.
12522212 2003 Residues Phe342-Asn346 of activated coagulation factor IX contribute to the interaction with low density lipoprotein receptor-related protein.
12522143 2003 Low density lipoprotein receptor-related protein and factor IXa share structural requirements for binding to the A3 domain of coagulation factor VIII.
12513796 2002 [Sal I, Nru I and Mse I restriction fragment length polymorphisms of factor IX gene in Chinese Han people].
12496253 2003 The factor IX gamma-carboxyglutamic acid (Gla) domain is involved in interactions between factor IX and factor XIa.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12444082 2003 Physiological fIXa activation involves a cooperative conformational rearrangement of the 99-loop.
12192300 2002 Activation of factor IX by erythrocyte membranes causes intrinsic coagulation.
12167623 2002 The interaction of factor XIa with activated platelets but not endothelial cells promotes the activation of factor IX in the consolidation phase of blood coagulation.
12152682 2002 Model of a ternary complex between activated factor VII, tissue factor and factor IX.
12105230 2002 The N-terminal epidermal growth factor-like domain of coagulation factor IX. Probing its functions in the activation of factor IX and factor X with a monoclonal antibody.
12070021 2002 Circulating and binding characteristics of wild-type factor IX and certain Gla domain mutants in vivo.
12036878 2002 Intrinsic pathway of blood coagulation contributes to thrombogenicity of atherosclerotic plaque.
11925427 2002 The connecting segment between both epidermal growth factor-like domains in blood coagulation factor IX contributes to stimulation by factor VIIIa and its isolated A2 domain.
11891231 2002 Cloning and characterization of the human factor XI gene promoter: transcription factor hepatocyte nuclear factor 4alpha (HNF-4alpha ) is required for hepatocyte-specific expression of factor XI.
11830468 2002 3-Dimensional structure of membrane-bound coagulation factor VIII: modeling of the factor VIII heterodimer within a 3-dimensional density map derived by electron crystallography.
11754413 2001 Factor IX gene polymorphisms in Indian population.
11736930 2001 Factor IX and thrombosis.
11583320 2001 Factor IX Denver, ASN 346-->ASP mutation resulting in a dysfunctional protein with defective factor VIIIa interaction.
11396323 Carrier detection and prenatal diagnosis in families with haemophilia.
11278963 2001 Factor IXa:factor VIIIa interaction. helix 330-338 of factor ixa interacts with residues 558-565 and spatially adjacent regions of the a2 subunit of factor VIIIa.
11133752 2001 Posttranslational modifications of recombinant myotube-synthesized human factor IX.
11122405 2000 Frequencies of five polymorphisms associated with the factor IX gene in the Thai population.
11122099 2000 Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations.
10698280 1999 Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene.
10467148 1999 Coagulation factor IXa: the relaxed conformation of Tyr99 blocks substrate binding.
10391209 1999 Characterization of single-nucleotide polymorphisms in coding regions of human genes.
10094553 1999 Identification of twenty-one new mutations in the factor IX gene by SSCP analysis.
9834200 1998 The life cycle of coagulation factor VIII in view of its structure and function.
9655178 1998 Association of myeloperoxidase with heparin: oxidative inactivation of proteins on the surface of endothelial cells by the bound enzyme.
9600455 1998 Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern.
9590153 1998 Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome.
9452115 1998 Five novel factor IX mutations in unrelated hemophilia B patients.
9222764 1997 Mutations associated with hemophilia B in Turkish patients.
9169594 1997 Modification of the N-terminus of human factor IX by defective propeptide cleavage or acetylation results in a destabilized calcium-induced conformation: effects on phospholipid binding and activation by factor XIa.
9047312 1997 Refinement of the NMR solution structure of the gamma-carboxyglutamic acid domain of coagulation factor IX using molecular dynamics simulation with initial Ca2+ positions determined by a genetic algorithm.
8855310 1996 Identification of the endothelial cell binding site for factor IX.
8833911 1996 A mutation in the propeptide of Factor IX leads to warfarin sensitivity by a novel mechanism.
8680410 1995 Twenty-five novel mutations of the factor IX gene in haemophilia B.
8663165 1996 Identification of the phospholipid binding site in the vitamin K-dependent blood coagulation protein factor IX.
8626656 1996 Activation of the factor VIIIa-factor IXa enzyme complex of blood coagulation by membranes containing phosphatidyl-L-serine.
8392713 1993 Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993.
8295821 1993 The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa.
8257988 1993 Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B.
8236150 1993 A deletion located in the 3' non translated part of the factor IX gene responsible for mild haemophilia B.
8199596 1994 A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient.
8172892 1994 Activation peptide of human factor IX has oligosaccharides O-glycosidically linked to threonine residues at 159 and 169.
8076946 1994 Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.
7987222 1994 Two-step selective formation of three disulfide bridges in the synthesis of the C-terminal epidermal growth factor-like domain in human blood coagulation factor IX.
7981722 1994 Identification of mutations in four hemophilia B patients of Turkish origin, including a novel deletion of base 6411.
7713897 1995 Structure of the metal-free gamma-carboxyglutamic acid-rich membrane binding region of factor IX by two-dimensional NMR spectroscopy.
7606779 1995 The structure of a Ca(2+)-binding epidermal growth factor-like domain: its role in protein-protein interactions.
7598447 1995 Tissue factor pathway inhibitor and the revised theory of coagulation.
7547952 1995 Structure of the calcium ion-bound gamma-carboxyglutamic acid-rich domain of factor IX.
6959130 1982 Isolation and characterization of a cDNA coding for human factor IX.
6688526 1983 The occurrence of beta-hydroxyaspartic acid in the vitamin K-dependent blood coagulation zymogens.
6687940 1983 Isolation of a human anti-haemophilic factor IX cDNA clone using a unique 52-base synthetic oligonucleotide probe deduced from the amino acid sequence of bovine factor IX.
6603618 1983 Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.
6425296 1984 Derivatives of blood coagulation factor IX contain a high affinity Ca2+-binding site that lacks gamma-carboxyglutamic acid.
6329734 1984 The gene structure of human anti-haemophilic factor IX.
6320191 1984 Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).
6287289 1982 Molecular cloning of the gene for human anti-haemophilic factor IX.
6089357 1984 Isolation and characterization of human factor IX cDNA: identification of Taq I polymorphism and regional assignment.
3857619 1985 Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX.
3790720 1987 Factor IXAlabama: a point mutation in a clotting protein results in hemophilia B.
3416069 1988 The putative factor IX gene promoter in hemophilia B Leyden.
3401602 1988 Genetic defect responsible for the dysfunctional protein: factor IXLong Beach.
3340835 1988 Genomic amplification with transcript sequencing.
3243764 1988 Blood clotting factor IX Niigata: substitution of alanine-390 by valine in the catalytic domain.
3009023 1986 Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4.
2994716 1985 Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).
2875754 1986 A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B.
2775660 1989 Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145.
2773937 1989 Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.
2753873 1989 Blood clotting factor IX Kashihara: amino acid substitution of valine-182 by phenylalanine.
2743975 1989 Molecular pathology of haemophilia B.
2738071 1989 Factor IX San Dimas. Substitution of glutamine for Arg-4 in the propeptide leads to incomplete gamma-carboxylation and altered phospholipid binding properties.
2714791 1989 Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior.
2713493 1989 Functional consequences of an arginine180 to glutamine mutation in factor IX Hilo.
2592373 1989 Blood clotting factor IX BM Nagoya. Substitution of arginine 180 by tryptophan and its activation by alpha-chymotrypsin and rat mast cell chymase.
2511201 1989 Identification of a disaccharide (Xyl-Glc) and a trisaccharide (Xyl2-Glc) O-glycosidically linked to a serine residue in the first epidermal growth factor-like domain of human factors VII and IX and protein Z and bovine protein Z.
2472424 1989 Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.
2372509 1990 A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm.
2352926 1990 Structural and functional basis of the developmental regulation of human coagulation factor IX gene: factor IX Leyden.
2339358 1990 Factor IX Chongqing: a new mutation in the calcium-binding domain of factor IX resulting in severe hemophilia B.
2248955 1990 Proteolytic activation of human factors IX and X by recombinant human factor VIIa: effects of calcium, phospholipids, and tissue factor.
2162822 1990 Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX.
2129367 1990 A new trisaccharide sugar chain linked to a serine residue in the first EGF-like domain of clotting factors VII and IX and protein Z.
2110473 1990 Kinetics of coagulation factor X activation by platelet-bound factor IXa.
2040636 1991 Cooperative activation of human factor IX by the human extrinsic pathway of blood coagulation.
1958666 1991 Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities.
1902289 1991 Isoleucine397 is changed to threonine in two females with hemophilia B.
1854745 1991 Sequence-specific 1H NMR assignments, secondary structure, and location of the calcium binding site in the first epidermal growth factor like domain of blood coagulation factor IX.
1730085 1992 Role of gamma-carboxyglutamic acid residues in the binding of factor IXa to platelets and in factor-X activation.
1634040 1992 Assessing the underlying pattern of human germline mutations: lessons from the factor IX gene.
1615485 1992 Characterization of the original Christmas disease mutation (cysteine 206----serine): from clinical recognition to molecular pathogenesis.
1517205 1992 Human factor IX has a tetrasaccharide O-glycosidically linked to serine 61 through the fucose residue.
1346975 1992 Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX.
1304885 1992 The three-dimensional structure of the first EGF-like module of human factor IX: comparison with EGF and TGF-alpha.
922557 1977 Interaction of heparin with canine coagulation proteins: in vivo and in vitro studies.
659613 1978 Activation of human factor IX (Christmas factor).
237463 1975 Basic mechanisms in blood coagulation.