Congenital factor VII deficiency

Zimmermann, Roland; Ehlers, G; Ehlers, W.; Voss, Hubertus von; Göbel, U.; Wahn, Ulrich

doi:10.1007/bf01007952

Cited by 25 publications

(3 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…adhesion and aggregation of thrombocytes and fibrin clot formation. Patients with very low factor VII activity (< 1%) produce severe clotting defects with hemorrhagies into cerebral and mucosal tissues (3,4).…”

Section: Discussionmentioning

confidence: 99%

Thromboplastic Activity of Human Arterial Walls and its Interaction with the Plasmatic Coagulation System

Zaugg¹

1980

CCLM

View full text Add to dashboard Cite

Intact arterial vessel wall is not thrombogenic. Disorders of the endothelium in connection with pathological conditions such as atherosclerosis, hyperlipidaemia, hypertension and hyperuricemia induce interaction of surfaces of high thromboplastic activity with the blood stream. In such situations local formation of thrombin will take place immediately. Evidence is presented for the essential and unique activation of the extrinsic pathway of the plasmatic coagulation system. The local formation of thrombin at pathologically altered arterial wall seems to be an important trigger for arterial thrombosis and haemostasis. It could be that in vivo the initial step of thrombogenesis depends upon the formation of the activator complex between tissue-thromboplastin and factor VII.

show abstract

Section: Discussionmentioning

confidence: 99%

Thromboplastic Activity of Human Arterial Walls and its Interaction with the Plasmatic Coagulation System

Zaugg¹

1980

CCLM

View full text Add to dashboard Cite

show abstract

“…However, very low levels of this zymogen (Ͻ2% of normal) are associated with severe coagulation disorders (18 -22). The clinical manifestations of less severe deficiencies are variable (18,19,(23)(24)(25). Such observations suggest that only low levels of fVII activity are required to maintain hemostasis in unchallenged patients.…”

mentioning

confidence: 84%

Characterization of Transcriptional Regulatory Elements in the Promoter Region of the Murine Blood Coagulation Factor VII Gene

Stauffer

Chukwumezie

Wilberding

et al. 1998

Journal of Biological Chemistry

View full text Add to dashboard Cite

To identify the 5 sequences of the murine coagulation factor VII (fVII) gene that resulted in its efficient transcription, a variety of 5-flanking sequences up to 7 kilobase pairs upstream of the translation ATG initiation codon were fused to the reporter gene, bacterial chloramphenicol acetyltransferase, and relative expression levels of this gene in mouse Hepa 1-6 cells were determined. It was found that the 5 region extending approximately 85 base pairs (bp) upstream of the transcriptional initiation site served as the minimal DNA region that provided full relative promoter activity for chloramphenicol acetyltransferase expression. This region of the gene also contains consensus sequences for liverenriched transcription factors, C/EBP␤ and HNF4, as well as for the ubiquitous protein factors, AP1, H4TF1, NF1, and Sp1. In vitro DNase I footprinting of the 200-bp proximal region of the promoter with a murine Hepa 1-6 cell nuclear extract revealed a clear footprint of a region corresponding to ؊80 to ؊28 bp of the murine fVII gene, suggesting that liver factors interact with this region of the DNA. Competitive gel shift and supershift assays with different synthetic oligonucleotide probes demonstrate that proteins contained in the nuclear extract, identified as C/EBP␤, H4TF1, and HNF4, bind to a region of the murine fVII DNA from 85 to 32 bp upstream of the transcription start site. Purified Sp1 also interacts with this region of the DNA at a site that substantially overlaps, but is not identical to, the H4TF1 binding locus. Binding of Sp1 to the mouse DNA was not observed with the nuclear extract as the source of the transcription factors, suggesting that Sp1 is likely displaced from its binding site by H4TF1 in the crude extract. In vivo dimethyl sulfate footprint analysis confirmed the existence of these sites and additionally revealed two other binding regions slightly upstream of the CCAAT/enhancer-binding protein (C/EBP) binding locus that are homologous to NF1 binding sequences. The data demonstrate that appropriate transcription factor binding sites exist in the proximal promoter region of the murine fVII gene that are consistent with its strong liverbased expression in a highly regulated manner.

show abstract

“…The fibrinolytic system has been found to be nor mal in patients with familial deficiency of factor VII evaluated by euglobulin lysis time or thromboelastography [12,23,28].…”

Section: Discussionmentioning

confidence: 99%

Possible Homozygous Factor VII<sup>R</sup> Disorder Associated with Fibrinolytic Hyperactivity

Villa¹,

Estellés

Pérez-Requejo

et al. 1985

Acta Haematol

View full text Add to dashboard Cite

A family with inherited factor VII deficiency is described. The propositus is a 9-year-old girl with chronic haemorrhagic history of epistaxis and bleeding after tooth extractions. Her factor VII coagulant activity was less than 3 % using rabbit thromboplastin. She had a factor VII antigen level of 50%. Both parents were heterozygous for factor VII deficiency. The father had procoagulant factor VII (VII-C) of 44% and factor VII antigen (VII-Ag) of 74%, and the mother had 54% of factor VII-C and 85% of VII-Ag. Her only brother had normal levels of factor VII-C (100%).Additionally, some abnormalities in the fibrinolytic system were detected both in the propositus and her brother with shortened euglobulin lysis times and increased functional levels of plasminogen activator. To our knowledge, the clinical association of inherited factor VII deficiency and familial fibrinolytic disturbances has not been described so far.

show abstract

Congenital factor VII deficiency

Cited by 25 publications

References 25 publications

Thromboplastic Activity of Human Arterial Walls and its Interaction with the Plasmatic Coagulation System

Thromboplastic Activity of Human Arterial Walls and its Interaction with the Plasmatic Coagulation System

Characterization of Transcriptional Regulatory Elements in the Promoter Region of the Murine Blood Coagulation Factor VII Gene

Possible Homozygous Factor VII<sup>R</sup> Disorder Associated with Fibrinolytic Hyperactivity

Contact Info

Product

Resources

About