Factor VII deficiency and the FVII mutation database

scientific article

Factor VII deficiency and the FVII mutation database is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1002/1098-1004(2001)17:1<3::AID-HUMU2>3.0.CO;2-V
P698PubMed publication ID11139238

P2093author name stringE G Tuddenham
A D Mumford
G Kemball-Cook
J H McVey
E Boswell
P2860cites workNucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulationQ22254871
Factor VII central. A novel mutation in the catalytic domain that reduces tissue factor binding, impairs activation by factor Xa, and abolishes amidolytic and coagulant activityQ24322691
Structure of human factor VIIa and its implications for the triggering of blood coagulationQ27619263
Crystal structure of active site-inhibited human coagulation factor VIIa (des-Gla)Q27620165
The crystal structure of the complex of blood coagulation factor VIIa with soluble tissue factorQ27732597
Mice lacking factor VII develop normally but suffer fatal perinatal bleedingQ28506959
Characterization of a cDNA coding for human factor VIIQ28646329
Crystal structure of bovine trypsinogen at 1-8 A resolution. I. Data collection, application of patterson search techniques and preliminary structural interpretationQ31993162
Identification of surface residues mediating tissue factor binding and catalytic function of the serine protease factor VIIaQ37037369
Functional characterization of the human factor VII 5'-flanking regionQ38362641
Molecular analysis of factor VII deficiency in Italy: a frequent mutation (FVII Lazio) in a repeated intronic region.Q38905795
Hemostatic factors as predictors of ischemic heart disease and stroke in the Edinburgh Artery StudyQ40874709
Congenital SPCA deficiency: a hitherto unrecognized coagulation defect with hemorrhage rectified by serum and serum fractionsQ40980369
Coagulation factor VII mass and activity in young men with myocardial infarction at a young age. Role of plasma lipoproteins and factor VII genotypeQ40986338
Coagulation factor VII and the risk of coronary heart disease in healthy men.Q45023956
A novel polymorphism in intron 1a of the human factor VII gene (G73A): study of a healthy Italian population and of 190 young survivors of myocardial infarctionQ45865545
Mutational mapping of functional residues in tissue factor: identification of factor VII recognition determinants in both structural modules of the predicted cytokine receptor homology domain.Q46020134
Coagulation, fibrinolytic, and inhibitory proteins in acute myocardial infarction and angina pectorisQ46183387
Analysis of the Factor VIIa Binding Site on Human Tissue Factor: Effects of Tissue Factor Mutations on the Kinetics and Thermodynamics of BindingQ54606013
Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VIIQ57263939
Prenatal exclusion of severe factor VII deficiency by DNA sequencingQ57263955
P433issue1
P921main subjectdatabaseQ8513
factor VII deficiencyQ18555032
P304page(s)3-17
P577publication date2001-01-01
P1433published inHuman MutationQ5937269
P1476titleFactor VII deficiency and the FVII mutation database
P478volume17

Reverse relations

cites work (P2860)
Q47613885A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency
Q44866826A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a pedigree: a description of two cases
Q34530397Autosomal recessive deficiencies of coagulation factors
Q57521645Calcium-Binding EGF-Like Domains
Q40509506Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patients
Q38915020Characterization of two novel splice site mutations in human factor VII gene causing severe plasma factor VII deficiency and bleeding diathesis
Q46866530CoagMDB: a database analysis of missense mutations within four conserved domains in five vitamin K-dependent coagulation serine proteases using a text-mining tool
Q36366931Congenital factor VII deficiency: therapy with recombinant activated factor VII -- a critical appraisal
Q35904936Does the genotype predict the phenotype? Evaluations of the hemostatic proteome
Q33608210Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy
Q64075447Factor VII Gene Defects: Review of Functional Studies and Their Clinical Implications
Q90573716Functional and Molecular Characterization of C91S Mutation in the Second Epidermal Growth Factor-Like Domain of Factor VII
Q33835076Genotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children
Q45213018Homozygous nonsense mutation (Cys72-->stop) in the human F7 gene: a not life-threatening mutation despite the absence of circulating factor VII.
Q35915743How to evaluate phenotype-genotype relationship in rare coagulation haemorrhagic disorders: examples from FVII deficiency
Q52841164Human F7 sequence is split into three deep clades that are related to FVII plasma levels.
Q44103806Human factor VII deficiency caused by S339C mutation located adjacent to the specificity pocket of the catalytic domain
Q28277729Identification and computationally-based structural interpretation of naturally occurring variants of human protein C
Q38912944Intracellular evaluation of ER targeting elucidates a mild form of inherited coagulation deficiency
Q40278893Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII.
Q45857939Long-term FVII substitution in a preterm infant with severe gastrointestinal bleeding and FVII deficiency due to a homozygous donor splice mutation IVS4+1G-->A.
Q54981028Molecular Characterization of Iranian Patients with Inherited Coagulation Factor VII Deficiency.
Q91621189Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency
Q37880689Organ targeted prenatal gene therapy--how far are we?
Q33256107Oriented scanning is the leading mechanism underlying 5' splice site selection in mammals
Q35238390Perinatal gene transfer to the liver
Q59795929Phenotypical variability in congenital FVII deficiency follows the ISTH-SSC severity classification guidelines: a review with illustrative examples from the clinic
Q90136233Plummer-Vinson Syndrome With Concomitant Factor VII Deficiency
Q43932164Predicted solution structure of zymogen human coagulation FVII.
Q56564487Prenatal gene therapy for the early treatment of genetic disorders
Q73270919Prevalence of factor VII deficiency and molecular characterization of the F7 gene in Brazilian patients
Q37853216Proteases as therapeutics
Q34637015Rare coagulation deficiencies.
Q45887032Role of the 2 adenine (g.11293_11294insAA) insertion polymorphism in the 3' untranslated region of the factor VII (FVII) gene: molecular characterization of a patient with severe FVII deficiency.
Q57730202Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion
Q93219237The EAHAD Blood Coagulation Factor VII Variant Database
Q40487635The P303T mutation in the human factor VII (FVII) gene alters the conformational state of the enzyme and causes a severe functional deficiency
Q92997871The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII
Q45874481The molecular basis of low activity levels of coagulation factor VII: a Brazilian cohort
Q44937880Two novel mutations in severe factor VII deficiency
Q85270677[Analysis of clinical features and genotype in an inherited coagulation factor Ⅶ deficiency pedigree]

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