Ontology highlight
ABSTRACT:
SUBMITTER: Nagase R
PROVIDER: S-EPMC5987913 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Nagase Reina R Inoue Daichi D Pastore Alessandro A Fujino Takeshi T Hou Hsin-An HA Yamasaki Norimasa N Goyama Susumu S Saika Makoto M Kanai Akinori A Sera Yasuyuki Y Horikawa Sayuri S Ota Yasunori Y Asada Shuhei S Hayashi Yasutaka Y Kawabata Kimihito Cojin KC Takeda Reina R Tien Hwei-Fang HF Honda Hiroaki H Abdel-Wahab Omar O Kitamura Toshio T
The Journal of experimental medicine 20180411 6
<i>Additional sex combs like 1</i> (<i>ASXL1</i>) is frequently mutated in myeloid malignancies and clonal hematopoiesis of indeterminate potential (CHIP). Although loss of ASXL1 promotes hematopoietic transformation, there is growing evidence that <i>ASXL1</i> mutations might confer an alteration of function. In this study, we identify that physiological expression of a C-terminal truncated Asxl1 mutant in vivo using conditional knock-in (KI) results in myeloid skewing, age-dependent anemia, th ...[more]