NIPBL: a new player in myeloid cell differentiation.
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ABSTRACT: The nucleophosmin 1 gene (NPM1) is the most frequently mutated gene in acute myeloid leukemia. Notably, NPM1 mutations are always accompanied by additional mutations such as those in cohesin genes RAD21, SMC1A, SMC3, and STAG2 but not in the cohesin regulator, nipped B-like (NIPBL). In this work, we analyzed a cohort of adult patients with acute myeloid leukemia and NPM1 mutation and observed a specific reduction in the expression of NIPBL but not in other cohesin genes. In our zebrafish model, overexpression of the mutated form of NPM1 also induced downregulation of nipblb, the zebrafish ortholog of human NIPBL To investigate the hematopoietic phenotype and the interaction between mutated NPM1 and <
SUBMITTER: Mazzola M
PROVIDER: S-EPMC6601076 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
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