Article
A germline HLTF mutation in familial MDS induces DNA damage accumulation through impaired PCNA polyubiquitination.
Leukemia - 1 Jul 2019
Takaoka Kensuke, Kawazu Masahito, Koya Junji, Yoshimi Akihide, Masamoto Yosuke, Maki Hiroaki, Toya Takashi, Kobayashi Takashi, Nannya Yasuhito, Arai Shunya, Ueno Toshihide, Ueno Hironori, Suzuki Kenshi, Harada Hironori, Manabe Atsushi, Hayashi Yasuhide, Mano Hiroyuki, Kurokawa Mineo
Abstract excerpt
Although several causal genes of familial myelodysplastic syndromes (MDS) have been identified, the genetic landscape and the molecular pathogenesis are not totally understood. To explore novel driver genes and their pathogenetic significance, we performed whole-exome sequence analysis of four individuals from a familial MDS pedigree and 10 candidate single-nucleotide variants (C9orf43, CYP7B1, EFHB, ENTPD7,...
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