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Germline DDX41 mutations cause ineffective hematopoiesis and myelodysplasia.
Chlon TM, Stepanchick E, Hershberger CE, Daniels NJ, Hueneman KM, Kuenzi Davis A, Choi K, Zheng Y, Gurnari C, Haferlach T, Padgett RA, Maciejewski JP, Starczynowski DT. Chlon TM, et al. Cell Stem Cell. 2021 Nov 4;28(11):1966-1981.e6. doi: 10.1016/j.stem.2021.08.004. Epub 2021 Sep 1. Cell Stem Cell. 2021. PMID: 34473945 Free PMC article.
DDX41 coordinates RNA splicing and transcriptional elongation to prevent DNA replication stress in hematopoietic cells.
Shinriki S, Hirayama M, Nagamachi A, Yokoyama A, Kawamura T, Kanai A, Kawai H, Iwakiri J, Liu R, Maeshiro M, Tungalag S, Tasaki M, Ueda M, Tomizawa K, Kataoka N, Ideue T, Suzuki Y, Asai K, Tani T, Inaba T, Matsui H. Shinriki S, et al. Leukemia. 2022 Nov;36(11):2605-2620. doi: 10.1038/s41375-022-01708-9. Epub 2022 Oct 14. Leukemia. 2022. PMID: 36229594 Free PMC article.