Evidence map›Paper›PMID 41479070›Full record

ArticleAdvances in experimental medicine and biology2026

Clinical, Molecular and Bioinformatic Study of Common Thrombophilia Mutation Factor V Leiden.

Antonia Angelopoulou, Eleni Papakonstantinou, Dimitrios Vlachakis, George P Chrousos, Nikolaos Cosmidis, Christos Yapijakis

Abstract read
PubMed Publisher
In one paragraph

Article in Advances in experimental medicine and biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Antonia AngelopoulouUnit of Orofacial Genetics, First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Eleni PapakonstantinouLaboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, Athens, Greece.
Dimitrios VlachakisLaboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, Athens, Greece.
George P ChrousosUniversity Research Institute of Maternal and Child Health and Precision Medicine and UNESCO Chair of Adolescent Health Care, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Nikolaos CosmidisLaboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, Athens, Greece.
Christos YapijakisUnit of Orofacial Genetics, First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece. cyapi@med.uoa.gr.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe most common genetic cause associated with thrombophilia is Leiden mutation (G1691A) of the coagulation factor V (FV) (F5) gene. MATERIALS AND

methodsData collected anonymously from 355 unrelated Greeks examined for the above mutation were analyzed. Bioinformatic investigation was conducted for factor V, including phylogenetic analysis, genetic network analysis, and 3D modelling of wild-type and Leiden protein.

resultsAnalysis confirmed the importance of F5 Leiden in thrombosis and the significance of a positive family history of thrombosis. In silico analysis of the F5 Leiden revealed a linkage between mammalian species and a potential functional interaction of F5 with 25 other genes, several of which have been associated with cardiovascular diseases. 3D modelling revealed that the Leiden mutation confers an H-bond network alteration in the functional region of FV, resulting in a hypercoagulable state.

conclusionsThis study highlighted the great value of a positive family history of thrombosis and the importance of testing for this common mutation as a prevention strategy component for thrombophilia, including thrombotic brain aneurysms. Bioinformatic analysis indicated the importance of the Leiden mutation in protein structure and function. The findings of this study increase understanding of molecular and clinical features of thrombophilia and may eventually lead to better prevention of thrombosis.

Indexed as

Computational BiologyFactor VMutationThrombophiliaAdultAgedFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedModels, MolecularPhylogenyThrombosisFactor Vfactor V LeidenBrain aneurysmCoagulation factor VGenetic counselingIn silico analysisThrombophilia

Identifiers

PMID41479070

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.