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is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing.
Tuesday,2021-12-14 17:38 America/Los_Angeles — ecterry
| Title | is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing. |
| Publication Type | Journal Article |
| Year of Publication | 2021 |
| Authors | Beauchamp, EM, Leventhal, M, Bernard, E, Hoppe, ER, Todisco, G, Creignou, M, Gallì, A, Castellano, CA, McConkey, M, Tarun, A, Wong, W, Schenone, M, Stanclift, C, Tanenbaum, B, Malolepsza, E, Nilsson, B, Bick, AG, Weinstock, JS, Miller, M, Niroula, A, Dunford, A, Taylor-Weiner, A, Wood, T, Barbera, A, Anand, S, Psaty, BM, Desai, P, Cho, MH, Johnson, AD, Loos, R, MacArthur, DG, Lek, M, Neuberg, DS, Lage, K, Carr, SA, Hellstrom-Lindberg, E, Malcovati, L, Papaemmanuil, E, Stewart, C, Getz, G, Bradley, RK, Jaiswal, S, Ebert, BL |
| Corporate/Institutional Authors | NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Exome Aggregation Consortium |
| Journal | Blood Cancer Discov |
| Volume | 2 |
| Issue | 5 |
| Pagination | 500-517 |
| Date Published | 2021 Sep |
| ISSN | 2643-3249 |
| Abstract | <p>Clonal hematopoiesis results from somatic mutations in cancer driver genes in hematopoietic stem cells. We sought to identify novel drivers of clonal expansion using an unbiased analysis of sequencing data from 84,683 persons and identified common mutations in the 5-methylcytosine reader, , as well as in , , and . We also identified these mutations at low frequency in myelodysplastic syndrome patients. edited mouse hematopoietic stem and progenitor cells exhibited a competitive advantage and increased genome-wide intron retention. mutations potentially link DNA methylation and RNA splicing, the two most commonly mutated pathways in clonal hematopoiesis and MDS.</p> |
| DOI | 10.1158/2643-3230.BCD-20-0224 |
| Alternate Journal | Blood Cancer Discov |
| PubMed ID | 34568833 |
| PubMed Central ID | PMC8462124 |
| Grant List | U01 HG007417 / HG / NHGRI NIH HHS / United States R01 HL120393 / HL / NHLBI NIH HHS / United States HHSN268200800007C / HL / NHLBI NIH HHS / United States N01HC55222 / HL / NHLBI NIH HHS / United States HHSN268201500001I / HL / NHLBI NIH HHS / United States HHSN268201600004C / HL / NHLBI NIH HHS / United States R01 CA251138 / CA / NCI NIH HHS / United States N01HC85082 / HL / NHLBI NIH HHS / United States N01HC85080 / HL / NHLBI NIH HHS / United States F31 HL143844 / HL / NHLBI NIH HHS / United States N01HC85081 / HL / NHLBI NIH HHS / United States T32 GM007226 / GM / NIGMS NIH HHS / United States HHSN268201600002C / HL / NHLBI NIH HHS / United States HHSN268201600032C / ES / NIEHS NIH HHS / United States U01 HL080295 / HL / NHLBI NIH HHS / United States HHSN268201500001C / HL / NHLBI NIH HHS / United States P50 CA206963 / CA / NCI NIH HHS / United States HHSN268201600018C / HL / NHLBI NIH HHS / United States R01 HL092577 / HL / NHLBI NIH HHS / United States U01 HL130114 / HL / NHLBI NIH HHS / United States R01 HL082945 / HL / NHLBI NIH HHS / United States U01 HL089897 / HL / NHLBI NIH HHS / United States R01 HL128239 / HL / NHLBI NIH HHS / United States N01HC85086 / HL / NHLBI NIH HHS / United States P01 CA066996 / CA / NCI NIH HHS / United States U01 HL089856 / HL / NHLBI NIH HHS / United States R01 HL151651 / HL / NHLBI NIH HHS / United States HHSN268201200036C / HL / NHLBI NIH HHS / United States HHSN268201800001C / HL / NHLBI NIH HHS / United States P01 CA108631 / CA / NCI NIH HHS / United States HHSN268201600003C / HL / NHLBI NIH HHS / United States HHSN268201600033C / ES / NIEHS NIH HHS / United States HHSN268201500014C / HL / NHLBI NIH HHS / United States HHSN268201600001C / HL / NHLBI NIH HHS / United States N01HC85083 / HL / NHLBI NIH HHS / United States R01 DK103854 / DK / NIDDK NIH HHS / United States N01HC25195 / HL / NHLBI NIH HHS / United States R01 HL117626 / HL / NHLBI NIH HHS / United States N01HC85079 / HL / NHLBI NIH HHS / United States R01 AG023629 / AG / NIA NIH HHS / United States |
ePub date:
21/09