| Literature DB >> 28442792 |
Brittany C Michel1,2, Cigall Kadoch1.
Abstract
Mammalian SWI/SNF complexes have critical roles in development and differentiation, and are implicated in the pathogenesis of several diseases; however, the mechanisms underpinning disease manifestation and the specificity of the subunits mutated are incompletely understood. Newly identified loss-of-function mutations in the SMARCD2 gene (part of the SMARCD1, SMARCD2 and SMARCD3 paralog family) reveal an evolutionarily conserved role specifically for the SMARCD2 subunit in granulopoiesis, and further investigation implicates the CEBPɛ transcription factor as a key effector of this specific function.Entities:
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Year: 2017 PMID: 28442792 DOI: 10.1038/ng.3853
Source DB: PubMed Journal: Nat Genet ISSN: 1061-4036 Impact factor: 38.330