The abnormal regulation of alternative splicing is usually accompanied by the occurrence
and development of tumors, which would produce multiple different isoforms and diversify …

Alternative splicing is a tightly regulated process whereby non-coding sequences of pre-
mRNA are removed and protein-coding segments are assembled in diverse combinations …

The pattern of somatic mutations observed at diagnosis of acute myeloid leukemia (AML)
has been well-characterized. However, the premalignant mutational landscape of AML and …

We conducted a phase I clinical trial of H3B-8800, an oral small molecule that binds Splicing
Factor 3B1 (SF3B1), in patients with MDS, CMML, or AML. Among 84 enrolled patients (42 …

Our knowledge about the genetics of myelodysplastic syndromes (MDS) and related
myeloid disorders has been dramatically improved during the past decade, in which …

Hotspot mutations in splicing factor genes have been recently reported at high frequency in
hematological malignancies, suggesting the importance of RNA splicing in cancer. We …

Precursor messenger RNA (pre-mRNA) splicing is a critical step in the posttranscriptional
regulation of gene expression, providing significant expansion of the functional proteome of …

To elucidate differential roles of mutations in myelodysplastic syndromes (MDS), we
investigated clonal dynamics using whole-exome and/or targeted sequencing of 699 …

High-throughput DNA sequencing significantly contributed to diagnosis and prognostication
in patients with myelodysplastic syndromes (MDS). We determined the biological and …

Most cases of adult myeloid neoplasms are routinely assumed to be sporadic. Here, we
describe an adult familial acute myeloid leukemia (AML) syndrome caused by germline …