Association of the p.Phe155del mutation in SERPINC1 with changed antithrombin function and increased risk of venous thromboembolism: clinical and functional observations
Jing Lu, Zuoyu Qin, Yining Lan, Jianlin Zhang, Zhilin Yu, Jialan Liang, Yanyan Tang · 2025
Read Association of the p.Phe155del mutation in SERPINC1 with changed antithrombin function and increased risk of venous thromboembolism: clinical and functional observations by Jing Lu, Zuoyu Qin, Yining Lan, Jianlin Zhang, Zhilin Yu, Jialan Liang, Yanyan Tang (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12723898.txt.
Description
A missing piece in a blood-clotting protein can run in families and raise the risk of dangerous vein clots. The authors study one such change, a deleted amino acid in the SERPINC1 gene, found in a patient with a clot in the brain's venous sinuses. The protein, antithrombin, normally brakes clotting, and a helper protein on vessel walls, syndecan-4, boosts its action. The team builds a five-generation family pedigree and tests how the changed protein binds its helper.
Computer docking suggests the variant weakens the bond with syndecan-4. Cell experiments with two independent methods agree: the mutant protein binds the helper less strongly than the normal one. The patient is classed as having type I hereditary antithrombin deficiency. The authors propose that the weaker grip explains part of the family's clotting risk, and they offer the findings as help for diagnosis and care of such inherited states.
Catalog record
| CREATOR | Jing Lu, Zuoyu Qin, Yining Lan, Jianlin Zhang, Zhilin Yu, Jialan Liang, Yanyan Tang |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 34 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |