A Machine Learning Framework Predicts the Clinical Severity of Hemophilia B Caused by Point-Mutations.

ABSTRACT: Blood coagulation is a vital physiological mechanism to stop blood loss following an injury to a blood vessel. This process starts immediately upon damage to the endothelium lining a blood vessel, and results in the formation of a platelet plug that closes the site of injury. In this repair operation, an essential component is the coagulation factor IX (FIX), a serine protease encoded by the F9 gene and whose deficiency causes hemophilia B. If not treated by prophylaxis or gene therapy, patients with this condition are at risk of life-threatening bleeding episodes. In this sense, a deep understanding of the FIX protein and its activated form (FIXa) is essential to develop efficient therapeutics. In this study, we used well-studied structural analysis techniques to create a residue interact

SUBMITTER: Lopes TJS 

PROVIDER: S-EPMC9580853 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature