Ontology highlight
ABSTRACT:
SUBMITTER: K JCB
PROVIDER: S-EPMC7652403 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
K Jagadeesh Chandra Bose JCB Kapoor Bishwajit Singh BS Mandal Kamal K Ghosh Shubhrima S Mokhamatam Raveendra B RB Manna Sunil K SK Mukhopadhyay Sudit S SS
Molecular and cellular biology 20201106 23
Fanconi anemia (FA) is a unique DNA damage repair pathway. To date, 22 genes have been identified that are associated with the FA pathway. A defect in any of those genes causes genomic instability, and the patients bearing the mutation become susceptible to cancer. In our earlier work, we identified that Fanconi anemia protein G (FANCG) protects the mitochondria from oxidative stress. In this report, we have identified eight patients having a mutation (C.65G>C), which converts arginine at positi ...[more]