Disease relevance of F7

• Three of these polymorphisms have low-frequency alleles that decrease expression of F7 and may provide protection against myocardial infarction (heart attacks) [1].
• Prevalence of factor VII deficiency and molecular characterization of the F7 gene in Brazilian patients [2].
• Recombinant factor VIIa (Eptacog Alfa): a review of its use in congenital or acquired haemophilia and other congenital bleeding disorders [3].
• Acquired anti-factor VII (proconvertin) inhibitor: hemorrhage and thrombosis [4].

High impact information on F7

• MEASUREMENTS: International normalized ratios obtained with a portable capillary monitor (Coumatrak) and the following from a simultaneous plasma sample: INRs from prothrombin times done with six thromboplastins, prothrombin-proconvertin (P&P) test activity, specific prothrombin activity, and native prothrombin antigen [5].
• To investigate the consequences of this mutation on F7 splicing, we designed normal and mutant minigenes, spanning exons 5 to 8 [6].
• Abnormal secretion and function of recombinant human factor VII as the result of modification to a calcium binding site caused by a 15-base pair insertion in the F7 gene [7].
• The human factor VII gene (FVII, also known as F7) spans 13 kb and is located on chromosome 13, 2.8 kb upstream of the factor X gene [8].
• The store-mediated transient showed a pharmacological sensitivity similar to that of progesterone-induced [Ca(2+)](i) oscillations (consistent with filling of the store by an SPCA) suggesting that the transient induced by micromolar progesterone is a 'single shot' activation of the same store that generates Ca(2+) oscillations [9].

Biological context of F7

• Family studies were performed in order to distinguish the contributions of individual mutant F7 alleles to the clinical and laboratory phenotypes [10].
• Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7) [11].
• Because of the unlikelihood that the proband was homozygous for two identical new point mutations, the DNA sequence abnormality was more likely to have arisen from a single mutated gene on one allele and a F7 gene deletion on the other allele [12].
• The combination of a markedly prolonged partial thromboplastin time and Quick prothrombin time and failure of normal plasma to correct these tests, in the presence of a normal thrombin and prothrombin and proconvertin time, seems to be pathognomonic for a factor V inhibitor [13].
• We found that genotypes of APOB codon 4154, AGT codon 174, and F7 codon 353 were significantly associated with variation in diastolic blood pressure [14].

Anatomical context of F7

• An analysis of ectopic transcripts of F7 in the leukocytes of the patient reveals that the mutation (IVS1a+5g>a) is associated with two novel aberrant patterns of splicing [15].
• This information allowed us to exclude a compound heterozygous deficiency state in a subsequent pregnancy using PCR/direct sequencing of the F7 gene using DNA obtained from chorionic villi at 10 weeks' gestation [16].
• This study evaluates blood flow at the long and short posterior ciliary arteries (LPCA and SPCA, respectively) in these conditions [17].

Associations of F7 with chemical compounds

• In a cohort study composed of young US women, individuals homozygous for haplotype C had a lower BMI and lower systolic blood pressure, but the association between the F7 haplotype and HDL cholesterol was not confirmed [18].
• After 4 daily doses of warfarin the prothrombin and proconvertin (P+P) time was within therapeutic range, and heparin was stopped [19].
• Recombinant factor VIIa (NovoSeven) [also known as recombinant activated factor VII or eptacog alfa] is a vitamin K-dependent glycoprotein that is structurally similar to human plasma-derived factor VIIa [3].

Other interactions of F7

• Compared to control subjects, patients had increased predialysis hemostasis-related cardiovascular risk factors: high fibrinogen, proconvertin, and type 1 plasminogen activator inhibitor plasma concentrations; low albumin values; generally low antithrombin III values but sometimes high [20].

Analytical, diagnostic and therapeutic context of F7

• The INR range of 2.0 to 3.0 corresponded to a P&P range of 30% to 13%, a native plasma prothrombin antigen range of 56 to 24 micrograms/mL, and a specific prothrombin activity range of 43% to 21% [5].
• PCR detection of a repeat polymorphism within the F7 gene [21].
• Complete sequence analysis of the factor VII (F7) gene in this couple indicated that the mother was heterozygous for an A to G transition at position -2 of the exon 5 acceptor splice site, and the father was heterozygous for a G to T transversion at position +1 of the exon 6 donor splice site [16].
• The F7 gene and clotting factor VII levels: dissection of a human quantitative trait locus [22].

References