Functional analysis of germline RAD51C missense variants highlight the role of RAD51C in replication fork protection

• Main Authors: Kolinjivadi, Arun Mouli, Chong, Siao Ting, Choudhary, Ramveer, Sankar, Haresh, Chew, Ee Ling, Yeo, Claresta, Chan, Sock Hoai, Ngeow, Joanne
• 其他作者: Lee Kong Chian School of Medicine (LKCMedicine)
• 格式: Article
• 語言: English
• 出版: 2023
• 主題: Science::Medicine; Replication Fork; Genome Instability
• 在線閱讀: https://hdl.handle.net/10356/164979

Monoallelic or biallelic RAD51C germline mutations results in chromosome instability disorders such as fanconi anemia (FA) and cancers. The bona fide function of RAD51C is to assist RAD51 nucleoprotein filament onto single strand DNA to complete Homologous Recombination (HR) repair. In addition to H...