The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.
Frequent pathway mutations of splicing machinery in myelodysplasia
Abstract
Myelodysplastic syndromes and related disorders (myelodysplasia) are a heterogeneous group of myeloid neoplasms showing deregulated blood cell production with evidence of myeloid dysplasia and a predisposition to acute myeloid leukaemia, whose pathogenesis is only incompletely understood. Here we report whole-exome sequencing of 29 myelodysplasia specimens, which unexpectedly revealed novel pathway mutations involving multiple components of the RNA splicing machinery, including U2AF35, ZRSR2, SRSF2 and SF3B1. In a large series analysis, these splicing pathway mutations were frequent (∼45 to ∼85%) in, and highly specific to, myeloid neoplasms showing features of myelodysplasia. Conspicuously, most of the mutations, which occurred in a mutually exclusive manner, affected genes involved in the 3'-splice site recognition during pre-mRNA processing, inducing abnormal RNA splicing and compromised haematopoiesis. Our results provide the first evidence indicating that genetic alterations of the major splicing components could be involved in human pathogenesis, also implicating a novel therapeutic possibility for myelodysplasia.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“mutations in several components of the core splicing apparatus, such as U2 small nuclear ribonucleoprotein auxiliary factor 2 (U2AF65), splicing factor 3B, subunit 1 (SF3B1) and other proteins, were found to cause very specific splicing defects in particular transcripts and to lead to a highly tissue-specific phenotype185–187.”
From The neurogenetics of alternative splicing (2016) · cites this paper as [185]
Citations
Cites
Subramanian, A., Tamayo, P., Mootha, V. K., Mukherjee, S., Ebert, B. L., Gillette, M. A., Paulovich, A., Pomeroy, S. L., Golub, T. R., Lander, E. S., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0506580102 · Cited by 53,625
Sequencing technologies – the next generation
Metzker, M. L. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2626 · Cited by 7,066
Next-generation DNA sequencing
Shendure, J., & Ji, H. (2008) · Nature Biotechnology · doi:10.1038/nbt1486 · Cited by 4,509
The Spliceosome: Design Principles of a Dynamic RNP Machine
Wahl, M. C., Will, C. L., & Lührmann, R. (2009) · Cell · doi:10.1016/j.cell.2009.02.009 · Cited by 2,665
Recurring mutations found by sequencing an acute myeloid leukemia genome
Mardis, E. R., Ding, L., Dooling, D. J., Larson, D. E., McLellan, M. D., Chen, K., Koboldt, D. C., Fulton, R. S., Delehaunty, K. D., McGrath, S. D., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0903840 · Cited by 2,219
DNMT3A Mutations in Acute Myeloid Leukemia
Ley, T. J., Ding, L., Walter, M. J., McLellan, M. D., Lamprecht, T., Larson, D. E., Kandoth, C., Payton, J. E., Baty, J., Welch, J., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa1005143 · Cited by 1,983
Morin, R. D., Johnson, N. A., Severson, T., Mungall, A. J. J., An, J., Goya, R., Paul, J. E., Boyle, M., Woolcock, B. W., Kuchenbauer, F. C., et al. (2010) · Nature Genetics · doi:10.1038/ng.518 · Cited by 1,719
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
Puente, X. S., Pinyol, M., Quesada, V., Conde, L., Ordóñez, G. R., Villamor, N., Escaramís, G., Jares, P., Beà, S., González, M., et al. (2011) · Nature · doi:10.1038/nature10113 · Cited by 1,529
Initial genome sequencing and analysis of multiple myeloma
Chapman, M. A., Lawrence, M. S., Keats, J. J., Cibulskis, K., Sougnez, C. L., Schinzel, A. C., Harview, C. L., Brunet, J.-P., Ahmann, G. J., Adli, M., et al. (2011) · Nature · doi:10.1038/nature09837 · Cited by 1,457
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
Ley, T. J., Mardis, E. R., Ding, L., Fulton, B., McLellan, M. D., Chen, K., Dooling, D. J., Dunford-Shore, B. H., McGrath, S. D., Hickenbotham, M. T., et al. (2008) · Nature · doi:10.1038/nature07485 · Cited by 1,434
Cited by
Sorted by citations
Vogelstein, B., Papadopoulos, N., Velculescu, V. E., Zhou, S., Diaz, L. A., & Kinzler, K. W. (2013) · Science · doi:10.1126/science.1235122 · Cited by 7,863
U1 snRNP regulates cancer cell migration and invasion in vitro
Oh, J.-M., Venters, C. C., Di, C., Pinto, A. M., Wan, L., Younis, I., Cai, Z., Arai, C., So, B. R., Duan, J., et al. (2020) · Nature Communications · doi:10.1038/s41467-019-13993-7 · Cited by 7,157
Predicting splicing from primary sequence with deep learning
Jaganathan, K., Kyriazopoulou Panagiotopoulou, S., McRae, J. F., Darbandi, S. F., Knowles, D., Li, Y. I., Kosmicki, J. A., Arbelaez, J., Cui, W., Schwartz, G. B., et al. (2019) · Cell · doi:10.1016/j.cell.2018.12.015 · Cited by 2,853
Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer
Li, M. M., Datto, M., Duncavage, E. J., Kulkarni, S., Lindeman, N. I., Roy, S., Tsimberidou, A. M., Vnencak‐Jones, C. L., Wolff, D. J., Younes, A., et al. (2016) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2016.10.002 · Cited by 2,113
Age-related mutations associated with clonal hematopoietic expansion and malignancies
Xie, M., Lu, C., Wang, J., McLellan, M. D., Johnson, K. J., Wendl, M. C., McMichael, J. F., Schmidt, H. K., Yellapantula, V., Miller, C. A., et al. (2014) · Nature Medicine · doi:10.1038/nm.3733 · Cited by 1,874
Clinical and biological implications of driver mutations in myelodysplastic syndromes
Papaemmanuil, E., Gerstung, M., Malcovati, L., Tauro, S., Gundem, G., Van Loo, P., Yoon, C. J., Ellis, P., Wedge, D. C., Pellagatti, A., et al. (2013) · Blood · doi:10.1182/blood-2013-08-518886 · Cited by 1,832
Mapping the Hallmarks of Lung Adenocarcinoma with Massively Parallel Sequencing
Imielinski, M., Berger, A. H., Hammerman, P. S., Hernandez, B., Pugh, T. J., Hodis, E., Cho, J., Suh, J., Capelletti, M., Sivachenko, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.08.029 · Cited by 1,789
Landscape of genetic lesions in 944 patients with myelodysplastic syndromes
Haferlach, T., Nagata, Y., Grossmann, V, Okuno, Y., Bacher, U., Nagae, G., Schnittger, S., Sanada, M., Kon, A., Alpermann, T., et al. (2014) · Leukemia · doi:10.1038/leu.2013.336 · Cited by 1,532
Self-citationEvolution and impact of subclonal mutations in chronic lymphocytic leukemia
Landau, D. A., Carter, S. L., Stojanov, P., McKenna, A., Stevenson, K., Lawrence, M. S., Sougnez, C., Stewart, C., Sivachenko, A., Wang, L., et al. (2013) · Cell · doi:10.1016/j.cell.2013.01.019 · Cited by 1,379
Lessons from the Cancer Genome
Garraway, L. A., & Lander, E. S. (2013) · Cell · doi:10.1016/j.cell.2013.03.002 · Cited by 1,377
Sotillo, E., Barrett, D. M., Black, K. L., Bagashev, A., Oldridge, D. A., Wu, G. S., Sussman, R. T., Lanauze, C. B., Ruella, M., Gazzara, M. R., et al. (2015) · Cancer Discovery · doi:10.1158/2159-8290.cd-15-1020 · Cited by 1,279
Integrated molecular analysis of clear-cell renal cell carcinoma
Sato, Y., Yoshizato, T., Shiraishi, Y., Maekawa, S., Okuno, Y., Kamura, T., Shimamura, T., Sato‐Otsubo, A., Nagae, G., Suzuki, H., et al. (2013) · Nature Genetics · doi:10.1038/ng.2699 · Cited by 1,257
Self-citationScotti, M. M., & Swanson, M. S. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2015.3 · Cited by 1,163
A day in the life of the spliceosome
Matera, A. G., & Wang, Z. (2014) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3742 · Cited by 1,074
Goodall, G. J., & Wickramasinghe, V. O. (2020) · Nature reviews. Cancer · doi:10.1038/s41568-020-00306-0 · Cited by 1,090
Context-dependent control of alternative splicing by RNA-binding proteins
Fu, X.-D., & Ares, M. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3778 · Cited by 1,044
Quesada, V., Conde, L., Villamor, N., Ordóñez, G. R., Jares, P., Bassaganyas, L., Ramsay, A. J., Beà, S., Pinyol, M., Martínez‐Trillos, A., et al. (2011) · Nature Genetics · doi:10.1038/ng.1032 · Cited by 1,022
Mutational landscape and clonal architecture in grade II and III gliomas
Suzuki, H., Aoki, K., Chiba, K., Sato, Y., Shiozawa, Y., Shiraishi, Y., Shimamura, T., Niida, A., Motomura, K., Ohka, F., et al. (2015) · Nature Genetics · doi:10.1038/ng.3273 · Cited by 831
Self-citationIntegrated molecular analysis of adult T cell leukemia/lymphoma
Kataoka, K., Nagata, Y., Kitanaka, A., Shiraishi, Y., Shimamura, T., Yasunaga, J., Totoki, Y., Chiba, K., Sato‐Otsubo, A., Nagae, G., et al. (2015) · Nature Genetics · doi:10.1038/ng.3415 · Cited by 844
Self-citationExploiting the Mutanome for Tumor Vaccination
Castle, J. C., Kreiter, S., Diekmann, J., Löwer, M., van de Roemer, N., de Graaf, J., Selmi, A., Diken, M., Boegel, S., Paret, C., et al. (2012) · Cancer Research · doi:10.1158/0008-5472.can-11-3722 · Cited by 802
Mutations and prognosis in primary myelofibrosis
Vannucchi, A. M., Lasho, T. L., Guglielmelli, P., Biamonte, F., Pardanani, A. D., Pereira, A., Finke, C. M., Score, J., Gangat, N., Mannarelli, C., et al. (2013) · Leukemia · doi:10.1038/leu.2013.119 · Cited by 793
Roles and mechanisms of alternative splicing in cancer — implications for care
Bonnal, S., López‐Oreja, I., & Valcárcel, J. (2020) · Nature Reviews Clinical Oncology · doi:10.1038/s41571-020-0350-x · Cited by 760
RNA splicing factors as oncoproteins and tumour suppressors
Dvinge, H., Kim, E. H., Abdel-Wahab, O. I., & Bradley, R. K. (2016) · Nature reviews. Cancer · doi:10.1038/nrc.2016.51 · Cited by 706
The genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemia
Sperling, A. S., Gibson, C. J., & Ebert, B. L. (2016) · Nature reviews. Cancer · doi:10.1038/nrc.2016.112 · Cited by 706
Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms
Vainchenker, W., & Královics, R. (2016) · Blood · doi:10.1182/blood-2016-10-695940 · Cited by 716
Mechanisms and function of substrate recruitment by F-box proteins
Skaar, J. R., Pagan, J. K., & Pagano, M. (2013) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3582 · Cited by 671
Malcovati, L., Hellström‐Lindberg, E., Bowen, D., Adès, L., Čermák, J., del Cañizo, C., Porta, M. G. D., Fenaux, P., Gattermann, N., Germing, U., et al. (2013) · Blood · doi:10.1182/blood-2013-03-492884 · Cited by 682
Somatic RHOA mutation in angioimmunoblastic T cell lymphoma
Sakata‐Yanagimoto, M., Enami, T., Yoshida, K., Shiraishi, Y., Ishii, R., Miyake, Y., Muto, H., Tsuyama, N., Sato‐Otsubo, A., Okuno, Y., et al. (2014) · Nature Genetics · doi:10.1038/ng.2872 · Cited by 667
Self-citationSomatic Mutations and Clonal Hematopoiesis in Aplastic Anemia
Yoshizato, T., Dumitriu, B., Hosokawa, K., Makishima, H., Yoshida, K., Townsley, D., Sato-Otsubo, A., Sato, Y., Liu, D., Suzuki, H., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1414799 · Cited by 646
Self-citationAge-related remodelling of oesophageal epithelia by mutated cancer drivers
Yokoyama, A., Kakiuchi, N., Yoshizato, T., Nannya, Y., Suzuki, H., Takeuchi, Y., Shiozawa, Y., Sato, Y., Aoki, K., Kim, S. K., et al. (2019) · Nature · doi:10.1038/s41586-018-0811-x · Cited by 628
Self-citationGenomic and molecular characterization of esophageal squamous cell carcinoma
Lin, D., Hao, J., Nagata, Y., Xu, L., Li, S., Meng, X., Sato, Y., Okuno, Y., Varela, A. M., Ding, L., et al. (2014) · Nature Genetics · doi:10.1038/ng.2935 · Cited by 627
Self-citationRecurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes
Graubert, T. A., Shen, D., Ding, L., Okeyo-Owuor, T., Shirai, C. L., Shao, J., Krysiak, K., Harris, C. C., Koboldt, D. C., Larson, D. E., et al. (2011) · Nature Genetics · doi:10.1038/ng.1031 · Cited by 604
Targeted Disruption of HLA Genes via CRISPR-Cas9 Generates iPSCs with Enhanced Immune Compatibility
Xu, H., Wang, B., Ono, M., Kagita, A., Fujii, K., Sasakawa, N., Ueda, T., Gee, P., Nishikawa, M., Nomura, M., et al. (2019) · Cell stem cell · doi:10.1016/j.stem.2019.02.005 · Cited by 581
RNA splicing dysregulation and the hallmarks of cancer
Bradley, R. K., & Anczuków, O. (2023) · Nature Reviews Cancer · doi:10.1038/s41568-022-00541-7 · Cited by 579
The Spectrum of SWI/SNF Mutations, Ubiquitous in Human Cancers
Shain, A. H., & Pollack, J. R. (2013) · PLoS ONE · doi:10.1371/journal.pone.0055119 · Cited by 601
SRSF2 Mutations Contribute to Myelodysplasia by Mutant-Specific Effects on Exon Recognition
Kim, E., Ilagan, J. O., Liang, Y., Daubner, G. M., Lee, S. C.-W., Ramakrishnan, A., Li, Y., Chung, Y. R., Micol, J.-B., Murphy, M. E., et al. (2015) · Cancer Cell · doi:10.1016/j.ccell.2015.04.006 · Cited by 575
Cervical cancer in low and middle‑income countries (Review)
Hull, R., Mbele, M., Makhafola, T. J., Hicks, C., Wang, S., Reis, R. M., Mehrotra, R., Mkhize‐Kwitshana, Z. L., Kibiki, G. S., Bates, D. O., et al. (2020) · Oncology Letters · doi:10.3892/ol.2020.11754 · Cited by 614
Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia
Kulis, M., Heath, S. C., Bibikova, M. V., Queirós, A. C., Navarro, A., Clot, G., Martínez‐Trillos, A., Castellano, G., Heath, I. B., Pinyol, M., et al. (2012) · Nature Genetics · doi:10.1038/ng.2443 · Cited by 581
TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients
Bejar, R. L., Lord, A. M., Stevenson, K. E., Bar‐Natan, M., Pérez-Ladaga, A., Zaneveld, J. E., Wang, H., Caughey, B. A., Stojanov, P., Getz, G. A., et al. (2014) · Blood · doi:10.1182/blood-2014-06-582809 · Cited by 575
Therapeutic targeting of splicing in cancer
Lee, S. C.-W., & Abdel-Wahab, O. I. (2016) · Nature Medicine · doi:10.1038/nm.4165 · Cited by 573
Prognostic Score Including Gene Mutations in Chronic Myelomonocytic Leukemia
Itzykson, R., Kosmider, O., Renneville, A., Gelsi‐Boyer, V., Meggendorfer, M., Morabito, M., Berthon, C., Adès, L., Fenaux, P., Beyne‐Rauzy, O., et al. (2013) · Journal of Clinical Oncology · doi:10.1200/jco.2012.47.3314 · Cited by 559
Self-citationGenomics of Acute Myeloid Leukemia Diagnosis and Pathways
Bullinger, L., Döhner, K., & Döhner, H. (2017) · Journal of Clinical Oncology · doi:10.1200/jco.2016.71.2208 · Cited by 570
Martin, M., Maßhöfer, L., Ketteler, P., Rahmann, S., Metz, C. H. D., Bornfeld, N., van de Nes, J. A. P., Klein‐Hitpaß, L., Hinnebusch, A. G., Horsthemke, B., et al. (2013) · Nature Genetics · doi:10.1038/ng.2674 · Cited by 536
JAK/STAT signaling in hematological malignancies
Vainchenker, W., & Constantinescu, S. N. (2013) · Oncogene · doi:10.1038/onc.2012.347 · Cited by 528
Seiler, M., Yoshimi, A., Darman, R. B., Chan, B., Keaney, G. F., Thomas, M., Agrawal, A. A., Caleb, B. L., Csibi, A., Sean, E. E., et al. (2018) · Nature Medicine · doi:10.1038/nm.4493 · Cited by 529
DNMT3A in haematological malignancies
Yang, L., Rau, R. E., & Goodell, M. A. (2015) · Nature reviews. Cancer · doi:10.1038/nrc3895 · Cited by 525
Malcovati, L., Papaemmanuil, E., Bowen, D., Boultwood, J., Porta, M. G. D., Pascutto, C., Travaglino, E., Groves, M. J., Godfrey, A. L., Ambaglio, I., et al. (2011) · Blood · doi:10.1182/blood-2011-09-377275 · Cited by 506
Cazzola, M. (2020) · New England Journal of Medicine · doi:10.1056/nejmra1904794 · Cited by 508
Nuclear speckles: molecular organization, biological function and role in disease
Gałgański, Ł., Urbanek-Trzeciak, M. O., & Krzyżosiak, W. J. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx759 · Cited by 489
Emerging patterns of somatic mutations in cancer
Watson, I. R., Takahashi, K., Futreal, P. A., & Chin, L. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3539 · Cited by 497
Clinical significance of somatic mutation in unexplained blood cytopenia
Malcovati, L., Gallì, A., Travaglino, E., Ambaglio, I., Rizzo, E., Molteni, E., Elena, C., Ferretti, V. V., Catricalà, S., Bono, E. B., et al. (2017) · Blood · doi:10.1182/blood-2017-01-763425 · Cited by 482
Self-citationRegulation of splicing by SR proteins and SR protein-specific kinases
Zhou, Z., & Fu, X. (2013) · Chromosoma · doi:10.1007/s00412-013-0407-z · Cited by 501
Aberrant RNA splicing in cancer; expression changes and driver mutations of splicing factor genes
Sveen, A., Kilpinen, S. K., Ruusulehto, A., Lothe, R. A., & Skotheim, R. I. (2015) · Oncogene · doi:10.1038/onc.2015.318 · Cited by 482
Tumor-suppressor genes that escape from X-inactivation contribute to cancer sex bias
Dunford, A. J., Weinstock, D. M., Savova, V., Schumacher, S. E., Cleary, J. P., Yoda, A., Sullivan, T. J., Hess, J. M., Gimelbrant, A. A., Beroukhim, R., et al. (2016) · Nature Genetics · doi:10.1038/ng.3726 · Cited by 471
Pre-mRNA splicing in disease and therapeutics
Singh, R. K., & Cooper, T. A. (2012) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2012.06.006 · Cited by 472
Darman, R. B., Seiler, M., Agrawal, A. A., Lim, K., Peng, S., Aird, D. R., Bailey, S., Bhavsar, E. B., Chan, B., Colla, S., et al. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.09.053 · Cited by 472
Molecular landscape of acute myeloid leukemia in younger adults and its clinical relevance
Grimwade, D. J., Ivey, A., & Huntly, B. J. P. (2015) · Blood · doi:10.1182/blood-2015-07-604496 · Cited by 475
Crystal Structure of TET2-DNA Complex: Insight into TET-Mediated 5mC Oxidation
Hu, L., Li, Z., Cheng, J., Rao, Q., Gong, W., Liu, M., Shi, Y. G., Zhu, J., Wang, P., & Xu, Y. (2013) · Cell · doi:10.1016/j.cell.2013.11.020 · Cited by 467
Bejar, R. L., Stevenson, K. E., Caughey, B. A., Abdel-Wahab, O. I., Steensma, D. P., Galili, N., Raza, A., Kantarjian, H. M., Levine, R. L., Neuberg, D. S., et al. (2012) · Journal of Clinical Oncology · doi:10.1200/jco.2011.40.7379 · Cited by 450
Seiler, M., Peng, S., Agrawal, A. A., Palacino, J. J., Teng, T., Zhu, P., Smith, P. G., Johnson, R., Demchok, J. A., Felau, I., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.01.088 · Cited by 445
Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms
Polprasert, C., Schulze, I., Sekeres, M. A., Makishima, H., Przychodzen, B. P., Hosono, N., Singh, J., Padgett, R. A., Gu, X., Phillips, J. G., et al. (2015) · Cancer Cell · doi:10.1016/j.ccell.2015.03.017 · Cited by 443
Self-citationLiang, D., Tatomer, D. C., Luo, Z., Wu, H., Yang, L. C., Chen, L., Cherry, S. R., & Wilusz, J. E. (2017) · Molecular Cell · doi:10.1016/j.molcel.2017.10.034 · Cited by 446
SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts
Malcovati, L., Karimi, M., Papaemmanuil, E., Ambaglio, I., Jädersten, M., Jansson, M., Elena, C., Gallì, A., Walldin, G., Della Porta, M. G., et al. (2015) · Blood · doi:10.1182/blood-2015-03-633537 · Cited by 434
Landscape Of Genetic Lesions In 944 Patients With Myelodysplastic Syndromes
Nagata, Y., Grossmann, V., Okuno, Y., Bacher, U., Nagae, G., Schnittger, S., Shiozawa, Y., Kon, A., Alpermann, T., Yoshida, K., et al. (2013) · Blood · doi:10.1182/blood.v122.21.521.521 · Cited by 430
Self-citationKeersmaecker, K. D., Atak, Z. K., Li, N., Vicente, C., Patchett, S., Girardi, T., Gianfelici, V., Geerdens, E., Clappier, E., Porcu, M., et al. (2012) · Nature Genetics · doi:10.1038/ng.2508 · Cited by 445
Thol, F. R., Kade, S., Schlarmann, C., Löffeld, P., Morgan, M. A., Krauter, J., Włodarski, M. W., Kölking, B., Wichmann, M., Görlich, K., et al. (2012) · Blood · doi:10.1182/blood-2011-12-399337 · Cited by 433
Self-citationDynamics of clonal evolution in myelodysplastic syndromes
Makishima, H., Yoshizato, T., Yoshida, K., Sekeres, M. A., Radivoyevitch, T., Suzuki, H., Przychodzen, B. P., Nagata, Y., Meggendorfer, M., Sanada, M., et al. (2016) · Nature Genetics · doi:10.1038/ng.3742 · Cited by 426
Self-citationThe spliceosome as a target of novel antitumour drugs
Bonnal, S., Vigevani, L., & Valcárcel, J. (2012) · Nature Reviews Drug Discovery · doi:10.1038/nrd3823 · Cited by 415
Perspective on Oncogenic Processes at the End of the Beginning of Cancer Genomics
Ding, L., Bailey, M. H., Porta-Pardo, E., Thorsson, V., Colaprico, A., Bertrand, D., Gibbs, D. L., Weerasinghe, A., Huang, K.-L., Tokheim, C., et al. (2018) · Cell · doi:10.1016/j.cell.2018.03.033 · Cited by 399
Bejar, R. L., Stevenson, K. E., Caughey, B. A., Lindsley, R. C., Mar, B. G., Stojanov, P., Getz, G. A., Steensma, D. P., Ritz, J., Soiffer, R. J., et al. (2014) · Journal of Clinical Oncology · doi:10.1200/jco.2013.52.3381 · Cited by 403
Adès, L., Itzykson, R., & Fenaux, P. (2014) · The Lancet · doi:10.1016/s0140-6736(13)61901-7 · Cited by 418
Alsafadi, S., Houy, A., Battistella, A., Popova, T. G., Wassef, M. A., Henry, E., Tirode, F., Constantinou, A., Piperno-Neumann, S., Roman‐Roman, S., et al. (2016) · Nature Communications · doi:10.1038/ncomms10615 · Cited by 385
Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms
Kon, A., Shih, L., Minamino, M., Sanada, M., Shiraishi, Y., Nagata, Y., Yoshida, K., Okuno, Y., Bando, M., Nakato, R., et al. (2013) · Nature Genetics · doi:10.1038/ng.2731 · Cited by 396
Self-citationUrbanski, L. M., Leclair, N. K., & Anczuków, O. (2018) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1476 · Cited by 393
Obeng, E. A., Chappell, R. J., Seiler, M., Chen, M. C., Campagna, D. R., Schmidt, P. J., Schneider, R. K., Lord, A. M., Wang, L., Gambe, R. G., et al. (2016) · Cancer Cell · doi:10.1016/j.ccell.2016.08.006 · Cited by 380
MYC regulates the core pre-mRNA splicing machinery as an essential step in lymphomagenesis
Koh, C. M., Bezzi, M., Low, D. H. P., Ang, W. X., Teo, S. X., Gay, F. P. H., Al‐Haddawi, M., Tan, S., Osato, M., Sabò, A., et al. (2015) · Nature · doi:10.1038/nature14351 · Cited by 385
The landscape of somatic mutations in Down syndrome–related myeloid disorders
Yoshida, K., Toki, T., Okuno, Y., Kanezaki, R., Shiraishi, Y., Sato‐Otsubo, A., Sanada, M., Park, M.-J., Terui, K., Suzuki, H., et al. (2013) · Nature Genetics · doi:10.1038/ng.2759 · Cited by 393
Self-citationRossi, D., Bruscaggin, A., Spina, V., Rasi, S., Khiabanian, H., Messina, M., Fangazio, M., Vaisitti, T., Monti, S. M., Chiaretti, S., et al. (2011) · Blood · doi:10.1182/blood-2011-08-373159 · Cited by 372
Breaking bad: R-loops and genome integrity
Sollier, J., & Cimprich, K. A. (2015) · Trends in Cell Biology · doi:10.1016/j.tcb.2015.05.003 · Cited by 393
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
Zhang, M. Y., Churpek, J. E., Keel, S., Walsh, T., Lee, M. K., Loeb, K. R., Gülsüner, S., Pritchard, C. C., Sánchez-Bonilla, M., Delrow, J. J., et al. (2015) · Nature Genetics · doi:10.1038/ng.3177 · Cited by 376
Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis
Makishima, H., Visconte, V., Sakaguchi, H., Jankowska, A. M., Kar, S. A., Jerez, A., Przychodzen, B. P., Bupathi, M., Guinta, K. M., Afable, M. G., et al. (2012) · Blood · doi:10.1182/blood-2011-12-399774 · Cited by 387
The genomic landscape of nasopharyngeal carcinoma
Lin, D., Meng, X., Hazawa, M., Nagata, Y., Varela, A. M., Xu, L., Sato, Y., Liu, L., Ding, L., Sharma, A., et al. (2014) · Nature Genetics · doi:10.1038/ng.3006 · Cited by 371
Self-citationOgawa, S. (2019) · Blood · doi:10.1182/blood-2018-10-844621 · Cited by 382
Self-citationSRSF1-Regulated Alternative Splicing in Breast Cancer
Anczuków, O., Akerman, M., Cléry, A., Wu, J., Shen, C., Shirole, N. H., Raimer, A. C., Sun, S., Jensen, M. A., Hua, Y., et al. (2015) · Molecular Cell · doi:10.1016/j.molcel.2015.09.005 · Cited by 362
The NLRP3 inflammasome functions as a driver of the myelodysplastic syndrome phenotype
Basiorka, A. A., McGraw, K. L., Eksioglu, E. A., Chen, X., Johnson, J., Zhang, L., Zhang, Q., Irvine, B. A., Cluzeau, T., Sallman, D. A., et al. (2016) · Blood · doi:10.1182/blood-2016-07-730556 · Cited by 367
Alternative tumour-specific antigens
Smith, C. C., Selitsky, S. R., Chai, S., Armistead, P. M., Vincent, B. G., & Serody, J. S. (2019) · Nature reviews. Cancer · doi:10.1038/s41568-019-0162-4 · Cited by 366
Yoshizato, T., Nannya, Y., Atsuta, Y., Shiozawa, Y., Iijima‐Yamashita, Y., Yoshida, K., Shiraishi, Y., Suzuki, H., Nagata, Y., Sato, Y., et al. (2017) · Blood · doi:10.1182/blood-2016-12-754796 · Cited by 352
Self-citationDoi, D., Magotani, H., Kikuchi, T., Ikeda, M., Hiramatsu, S., Yoshida, K., Amano, N., Nomura, M., Umekage, M., Morizane, A., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-17165-w · Cited by 350
Self-citationUncovering novel mutational signatures by de novo extraction with SigProfilerExtractor
Islam, S. M. A., Díaz‐Gay, M., Wu, Y., Barnes, M. D., Vangara, R., Bergstrom, E. N., He, Y., Vella, M., Wang, J., Teague, J. W., et al. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100179 · Cited by 364
Lee, S. C.-W., Dvinge, H., Kim, E. H., Cho, H., Micol, J., Chung, Y. R., Durham, B. H., Yoshimi, A., Kim, Y. J., Thomas, M., et al. (2016) · Nature Medicine · doi:10.1038/nm.4097 · Cited by 359
Widespread intron retention diversifies most cancer transcriptomes
Dvinge, H., & Bradley, R. K. (2015) · Genome Medicine · doi:10.1186/s13073-015-0168-9 · Cited by 372
The genetic basis of myelodysplasia and its clinical relevance
Cazzola, M., Porta, M. G. D., & Malcovati, L. (2013) · Blood · doi:10.1182/blood-2013-09-381665 · Cited by 355
The neurogenetics of alternative splicing
Vuong, C. K., Black, D. L., & Zheng, S. (2016) · Nature Reviews Neuroscience · doi:10.1038/nrn.2016.27 · Cited by 340
PRMTs and Arginine Methylation: Cancer’s Best-Kept Secret?
Jarrold, J., & Davies, C. C. (2019) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2019.05.007 · Cited by 346
Targeting an RNA-Binding Protein Network in Acute Myeloid Leukemia
Wang, E., Lu, S. X., Pastore, A., Chen, X., Imig, J., Chun-Wei Lee, S., Hockemeyer, K., Ghebrechristos, Y. E., Yoshimi, A., Inoue, D., et al. (2019) · Cancer Cell · doi:10.1016/j.ccell.2019.01.010 · Cited by 338
SCF ubiquitin ligase-targeted therapies
Skaar, J. R., Pagan, J. K., & Pagano, M. (2014) · Nature Reviews Drug Discovery · doi:10.1038/nrd4432 · Cited by 344
Proteomic Investigations Reveal a Role for RNA Processing Factor THRAP3 in the DNA Damage Response
Beli, P., Lukashchuk, N., Wagner, S., Weinert, B. T., Olsen, J. V., Baskcomb, L., Mann, M., Jackson, S. P., & Choudhary, C. (2012) · Molecular Cell · doi:10.1016/j.molcel.2012.01.026 · Cited by 344
Such, E., Germing, U., Malcovati, L., Cervera, J., Kuendgen, A., Porta, M. G. D., Nomdedeu, B., Arenillas, L., Luño, E., Xicoy, B., et al. (2013) · Blood · doi:10.1182/blood-2012-08-452938 · Cited by 320
Green, M. R., Gentles, A. J., Nair, R. V., Irish, J. M., Kihira, S., Liu, C. L., Kela, I., Hopmans, E. S., Myklebust, J. H., Ji, H. P., et al. (2013) · Blood · doi:10.1182/blood-2012-09-457283 · Cited by 326
Myelodysplastic Syndromes Are Propagated by Rare and Distinct Human Cancer Stem Cells In Vivo
Woll, P. S., Kjällquist, U., Chowdhury, O., Doolittle, H., Wedge, D. C., Thongjuea, S., Erlandsson, R., Ngara, M., Anderson, K., Deng, Q., et al. (2014) · Cancer Cell · doi:10.1016/j.ccr.2014.03.036 · Cited by 333
Metadata
- Authors
- Yoshida, K., Sanada, M., Shiraishi, Y., Nowak, D., Nagata, Y., Yamamoto, R., Sato, Y., Sato-Otsubo, A., Kon, A., Nagasaki, M., Chalkidis, G., Suzuki, Y., Shiosaka, M., Kawahata, R., Yamaguchi, T., Otsu, M., Obara, N., Sakata-Yanagimoto, M., Ishiyama, K., Mori, H., Nolte, F., Hofmann, W.-K., Miyawaki, S., Sugano, S., Haferlach, C., Koeffler, H. P., Shih, L.-Y., Haferlach, T., Chiba, S., Nakauchi, H., Miyano, S., & Ogawa, S.
- Affiliations
- The University of Tokyo (JP)
- Institute of Medical Science, The University of Tokyo (JP)
- Heidelberg University (DE)
- Japan Science and Technology Agency (JP)
- University of Tsukuba (JP)
- Tokyo Metropolitan Ohtsuka Hospital (JP)
- SHOWA Medical University Fujigaoka Hospital (JP)
- Munich Leukemia Laboratory (Germany) (DE)
- Cedars-Sinai Medical Center (US)
- Chang Gung University (TW)
- Corresponding author
- Ogawa, Seishi
- ORCID
- Yoshida, Kenichi
- Sanada, Masashi
- Shiraishi, Yuichi
- Nowak, Daniel
- Nagata, Yasunobu
- Sato, Yusuke
- Kon, Ayana
- Nagasaki, Masao
- Suzuki, Yutaka
- Yamaguchi, Tomoyuki
- Otsu, Makoto
- Obara, Naoshi
- Ishiyama, Ken
- Nolte, Florian
- Miyawaki, Shuichi
- Sugano, Sumio
- Haferlach, Claudia
- Koeffler, H. Phillip
- Shih, Lee-Yung
- Haferlach, Torsten
- Chiba, Shigeru
- Nakauchi, Hiromitsu
- Miyano, Satoru
- Ogawa, Seishi
- Venue
- Nature
- Published
- 2011-09-11
- Volume
- 478
- Issue
- 7367
- Pages
- 64-69
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2073889874
- Cited by
- 2,029
- References
- 37
- Citations by year
- 2026: 71 · 2025: 76 · 2024: 121 · 2023: 101 · 2022: 139 · 2021: 160 · 2020: 148 · 2019: 135 · 2018: 135 · 2017: 148 · 2016: 146 · 2015: 145 · 2014: 173 · 2013: 171 · 2012: 135
- FWCI
- 64.98
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- National University of Singapore (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- Japan Society for the Promotion of Science (22390191, 23791075, 22790895, 23659533, 23659482, 23390269, 23791068, 22659058)
- National Cancer Institute (R01CA026038)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- myelodysplastic syndrome, splicing mutation, U2AF35, ZRSR2, SRSF2, SF3B1, 3' splice site recognition, pre-mRNA splicing, hematopoiesis, acute myeloid leukemia, myeloid neoplasms, aberrant splicing, therapeutic target
- MeSH terms
- Splicing Factor U2AF, Hematopoiesis, Humans, Mutation, Myelodysplastic Syndromes, Nuclear Proteins, Ribonucleoproteins, RNA Splicing, Spliceosomes, Alternative Splicing, Polymorphism, Single Nucleotide, RNA Splice Sites, Exome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
