{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Payne EM"],"funding":["NCI NIH HHS"],"pagination":["903-15"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3148170"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["118(4)"],"pubmed_abstract":["In a zebrafish mutagenesis screen to identify genes essential for myelopoiesis, we identified an insertional allele hi1727, which disrupts the gene encoding RNA helicase dead-box 18 (Ddx18). Homozygous Ddx18 mutant embryos exhibit a profound loss of myeloid and erythroid cells along with cardiovascular abnormalities and reduced size. These mutants also display prominent apoptosis and a G1 cell-cycle arrest. Loss of p53, but not Bcl-xl overexpression, rescues myeloid cells to normal levels, suggesting that the hematopoietic defect is because of p53-dependent G1 cell-cycle arrest. We then sequenced primary samples from 262 patients with myeloid malignancies because genes essential for myelopoiesis are often mutated in human leukemias. We identified 4 nonsynonymous sequence variants (NSVs) of"],"journal":["Blood"],"pubmed_title":["Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML."],"pmcid":["PMC3148170"],"funding_grant_id":["R01 CA093152","T32 CA009382","5T32 CA009382-26"],"pubmed_authors":["Rhodes J","Bolli N","Gazda HT","Look AT","Abdel-Wahab OI","Kanki JP","Levine R","Stone R","Beggs AH","Cotter FE","Payne EM","Hedvat CV","Khanna-Gupta A","Sun H"],"additional_accession":[]},"is_claimable":false,"name":"Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML.","description":"In a zebrafish mutagenesis screen to identify genes essential for myelopoiesis, we identified an insertional allele hi1727, which disrupts the gene encoding RNA helicase dead-box 18 (Ddx18). Homozygous Ddx18 mutant embryos exhibit a profound loss of myeloid and erythroid cells along with cardiovascular abnormalities and reduced size. These mutants also display prominent apoptosis and a G1 cell-cycle arrest. Loss of p53, but not Bcl-xl overexpression, rescues myeloid cells to normal levels, suggesting that the hematopoietic defect is because of p53-dependent G1 cell-cycle arrest. We then sequenced primary samples from 262 patients with myeloid malignancies because genes essential for myelopoiesis are often mutated in human leukemias. We identified 4 nonsynonymous sequence variants (NSVs) of","dates":{"release":"2011-01-01T00:00:00Z","publication":"2011 Jul","modification":"2026-04-18T11:15:05.778Z","creation":"2025-07-13T03:04:46.49Z"},"accession":"S-EPMC3148170","cross_references":{"pubmed":["21653321"],"doi":["10.1182/blood-2010-11-318022"]}}