Ontology highlight
ABSTRACT:
PROVIDER: EGAS00001001103 | EGA |
REPOSITORIES: EGA
Hira Asuka A Yoshida Kenichi K Sato Koichi K Okuno Yusuke Y Shiraishi Yuichi Y Chiba Kenichi K Tanaka Hiroko H Miyano Satoru S Shimamoto Akira A Tahara Hidetoshi H Ito Etsuro E Kojima Seiji S Kurumizaka Hitoshi H Ogawa Seishi S Takata Minoru M Yabe Hiromasa H Yabe Miharu M
American journal of human genetics 20150601 6
Fanconi anemia (FA) is a rare genetic disorder characterized by genome instability, increased cancer susceptibility, progressive bone marrow failure (BMF), and various developmental abnormalities resulting from the defective FA pathway. FA is caused by mutations in genes that mediate repair processes of interstrand crosslinks and/or DNA adducts generated by endogenous aldehydes. The UBE2T E2 ubiquitin conjugating enzyme acts in FANCD2/FANCI monoubiquitination, a critical event in the pathway. He ...[more]