Article
Molecular basis of inherited protein C deficiency results from genetic variations in the signal peptide and propeptide regions.
Journal of thrombosis and haemostasis : JTH - 1 Nov 2023
Cao Qing, Hao Zhenyu, Li Cheng, Chen Xuejie, Gao Meng, Jiang Nan, Liu Hongli, Shen Yan, Yang Haiping, Zhang Shujuan, Yang Aiying, Li Weikai, Tie Jian-Ke, Shen Guomin
Abstract excerpt
BACKGROUND: Inherited protein C deficiency (PCD) caused by mutations in protein C (PC) gene (PROC) increases the risk of thrombosis. Missense mutations in PC's signal peptide and propeptide have been reported in patients with PCD, but their pathogenic mechanisms, except mutations in R42 residue, remain unclear. OBJECTIVES: To investigate the pathogenic mechanisms of inherited PCD caused by 11 naturally occurring...
Topics
- RNA, Messenger
- Protein Sorting Signals
- Mutation, Missense
- Mutation
- Humans
- Thrombophilia
- RNA Precursors
- RNA Splicing
- Protein C Deficiency