[HTML][HTML] Truncation mutants of ASXL1 observed in myeloid malignancies are expressed at detectable protein levels
D Inoue, M Matsumoto, R Nagase, M Saika… - Experimental …, 2016 - Elsevier
Recent progress in deep sequencing technologies has revealed many novel mutations in a
variety of genes in patients with myelodysplastic syndromes (MDS). Most of these mutations
are thought to be loss-of-function mutations, with some exceptions, such as the gain-of-
function IDH1/2 and SRSF2 mutations. Among the mutations, ASXL1 mutations attract much
attention; the ASXL1 mutations are identified in a variety of hematologic malignancies and
always predicts poor prognosis. It was found that the C-terminal truncating mutants of the …
variety of genes in patients with myelodysplastic syndromes (MDS). Most of these mutations
are thought to be loss-of-function mutations, with some exceptions, such as the gain-of-
function IDH1/2 and SRSF2 mutations. Among the mutations, ASXL1 mutations attract much
attention; the ASXL1 mutations are identified in a variety of hematologic malignancies and
always predicts poor prognosis. It was found that the C-terminal truncating mutants of the …