The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms
Open accessAbstract
Summary 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 lead 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.
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Citations
Cites
Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia
The Cancer Genome Atlas Research Network (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1301689 · Cited by 5,078
Discovery and saturation analysis of cancer genes across 21 tumour types
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“By all the established and recognized criteria (Lawrence et al., 2014), somatic DDX41 mutations we found are driver mutations (Makishima et al.”
Frequent pathway mutations of splicing machinery in myelodysplasia
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Self-citationClonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing
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Lenalidomide in the Myelodysplastic Syndrome with Chromosome 5q Deletion
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“sequencing (NGS) in MDS led to the discovery of relevant somatic mutations and their combinations (Patel et al., 2012; Walter et al., 2013).”
Cited by
Molecular International Prognostic Scoring System for Myelodysplastic Syndromes
Bernard, E., Tuechler, H., Greenberg, P. L., Hasserjian, R. P., Arango Ossa, J. E., Nannya, Y., Devlin, S. M., Creignou, M., Pinel, P., Monnier, L., et al. (2022) · NEJM Evidence · doi:10.1056/evidoa2200008 · Cited by 867
Self-citationDonor Clonal Hematopoiesis and Recipient Outcomes After Transplantation
Gibson, C. J., Kim, H. T., Zhao, L., Murdock, H. M., Hambley, B., Ogata, A., Madero-Marroquin, R., Wang, S., Green, L., Fleharty, M., et al. (2022) · Journal of Clinical Oncology · doi:10.1200/jco.21.02286 · Cited by 168
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Metadata
- Authors
- Polprasert, C., Schulze, I., Sekeres, M. A., Makishima, H., Przychodzen, B., Hosono, N., Singh, J., Padgett, R. A., Gu, X., Phillips, J. G., Clemente, M., Parker, Y., Lindner, D., Dienes, B., Jankowsky, E., Saunthararajah, Y., Du, Y., Oakley, K., Nguyen, N., Mukherjee, S., Pabst, C., Godley, L. A., Churpek, J. E., Pollyea, D. A., Krug, U., Berdel, W. E., Klein, H.-U., Dugas, M., Shiraishi, Y., Chiba, K., Tanaka, H., Miyano, S., Yoshida, K., Ogawa, S., Müller-Tidow, C., & Maciejewski, J. P.
- Venue
- Cancer Cell
- Publisher
- Elsevier BV
- Published
- 2015-05
- Volume
- 27
- Issue
- 5
- Pages
- 658-670
- ISSN
- 1535-6108 (ISSN-L)
- OpenAlex
- W2082646723
- Cited by
- 434
- References
- 9
- FWCI
- 24.42
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Polprasert, C., Schulze, I., Sekeres, M. A., Makishima, H., Przychodzen, B., Hosono, N., Singh, J., Padgett, R. A., Gu, X., Phillips, J. G., Clemente, M., Parker, Y., Lindner, D., Dienes, B., Jankowsky, E., Saunthararajah, Y., Du, Y., Oakley, K., Nguyen, N., . . . Maciejewski, J. P. (2015). Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms. Cancer Cell. https://doi.org/10.1016/j.ccell.2015.03.017
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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