Acute myeloid leukemia (AML) is a malignant disorder of the bone marrow which is
characterized by the clonal expansion and differentiation arrest of myeloid progenitor cells …

Although much work has focused on the elucidation of somatic alterations that drive the
development of acute leukaemias and other haematopoietic diseases, it has become …

Upon binding double-stranded DNA (dsDNA), cyclic GMP-AMP synthase (cGAS) is activated
and initiates the cGAS-stimulator of IFN genes (STING)-type I interferon pathway. DEAD-box …

Germline DDX41 variants are the most common mutations predisposing to acute myeloid
leukemia (AML)/myelodysplastic syndrome (MDS) in adults, but the causal variant (CV) …

DDX41 mutations are the most common germline alterations in adult myelodysplastic
syndromes (MDSs). The majority of affected individuals harbor germline monoallelic …

RNA splicing is an essential process that governs many aspects of cellular proliferation,
survival, and differentiation. Considering the importance of RNA splicing in gene regulation …

Myeloid neoplasms with germline DDX41 mutations have been incorporated into the 2017
WHO classification. Limited studies describing the clinicopathologic features and mutation …

Although inherited hematopoietic malignancies have been reported clinically since the early
twentieth century, the molecular basis for these diseases has only recently begun to be …

Next-generating sequencing (NGS) has helped to reveal the genomic landscape of inherited
hematological malignancies. Various genes have recently been identified in families that …

Recently, DDX41 mutations have been identified both as germline and acquired somatic
mutations in families with multiple cases of late-onset myelodysplastic syndrome (MDS) …