http://purl.uniprot.org/citations/25920683 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/25920683 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/25920683 | http://www.w3.org/2000/01/rdf-schema#comment | "Most cases of adult myeloid neoplasms are routinely assumed to be sporadic. Here, we describe an adult familial acute myeloid leukemia (AML) syndrome caused by germline mutations in the DEAD/H-box helicase gene DDX41. DDX41 was also found to be affected by somatic mutations in sporadic cases of myeloid neoplasms as well as in a biallelic fashion in 50% of patients with germline DDX41 mutations. Moreover, corresponding deletions on 5q35.3 present in 6% of cases led to haploinsufficient DDX41 expression. DDX41 lesions caused altered pre-mRNA splicing and RNA processing. DDX41 is exemplary of other RNA helicase genes also affected by somatic mutations, suggesting that they constitute a family of tumor suppressor genes."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ccell.2015.03.017"xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ccell.2015.03.017"xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Du Y."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Du Y."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Singh J."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Singh J."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Ogawa S."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Ogawa S."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Tanaka H."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Tanaka H."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Yoshida K."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Yoshida K."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Mukherjee S."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Mukherjee S."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Nguyen N."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Nguyen N."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Gu X."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Gu X."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Lindner D."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Lindner D."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Chiba K."xsd:string |
http://purl.uniprot.org/citations/25920683 | http://purl.uniprot.org/core/author | "Chiba K."xsd:string |