The complex genetic landscape of familial mds and aml reveals pathogenic germline variants

HIGHLIGHTS

  • who: Ana Rio-Machin from the (UNIVERSITY) have published the research: The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants, in the Journal: NATURE COMMUNICATIONS NATURE COMMUNICATIONS
  • what: The authors report several new predisposing candidate genes in familial MDS/AML and note a significant overlap between the genetics of MDS/AML, inherited BMF syndromes and certain rare hematological syndromes (Fig 3). The authors show that all four DHX34 variants have a reduced effect on UPF1 phosphorylation (Fig 4) and also display diminished recruitment of UPF2, indicating a decreased NMD activity (Supplementary . . .

     

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