Functional analysis of XRCC4 mutations in reported microcephaly and growth defect patients in terms of radiosensitivity

• Main Authors: Anie Day D.C. Asa, Rujira Wanotayan, Mukesh Kumar Sharma, Kaima Tsukada, Mikio Shimada, Yoshihisa Matsumoto
• Other Authors: Tokyo Institute of Technology
• Format: Article
• Published: 2022
• Subjects: Environmental Science; Medicine; Physics and Astronomy
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/77048
• Institution: Mahidol University

Non-homologous end joining is one of the main pathways for DNA double-strand break (DSB) repair and is also implicated in V(D)J recombination in immune system. Therefore, mutations in non-homologous end-joining (NHEJ) proteins were found to be associated with immunodeficiency in human as well as in...