Publications by authors named "A Minano"
Antiphospholipid syndrome (APS) is a thromboinflammatory disorder caused by circulating antiphospholipid autoantibodies (aPL) and characterized by an increased risk of thrombotic events. The pathogenic mechanisms of these antibodies are complex and not fully understood, but disturbances in coagulation and fibrinolysis have been proposed to contribute to the thrombophilic state. This study aims to evaluate the role of an emerging hemostatic molecule, FXI, in the thrombotic risk of patients with aPL.
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- Congenital factor XI (FXI) deficiency is often overlooked but provides some natural protection against blood clots, with most genetic defects in the F11 gene being single-nucleotide variants.
- A study involving 93 FXI deficiency patients over 25 years identified 30 genetic variants, including three significant structural variants (SVs), suggesting these SVs play a vital role in the disorder's molecular pathology.
- The research emphasizes the need for advanced detection methods, particularly long-read sequencing, to identify these SVs effectively due to their diverse nature and potential to arise spontaneously.
Multiplex ligation-dependent probe amplification (MLPA) identifies genetic structural variants in in 5% of cases with antithrombin deficiency (ATD), the most severe congenital thrombophilia. Our aim was to unravel the utility and limitations of MLPA in a large cohort of unrelated patients with ATD (N = 341). MLPA identified 22 structural variants (SVs) causing ATD (6.
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