Cited by 2,029RNA Research and SplicingAcute Myeloid Leukemia ResearchGenomics and Rare Diseases

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

Yoshida, Kenichi, Sanada, Masashi, Shiraishi, Yuichi, Nowak, Daniel, Nagata, Yasunobu, Yamamoto, Ryo, Sato, Yusuke, Sato-Otsubo, Aiko, Kon, Ayana, Nagasaki, Masao, Chalkidis, George, Suzuki, Yutaka, Shiosaka, Masashi, Kawahata, Ryoichiro, Yamaguchi, Tomoyuki, Otsu, Makoto, Obara, Naoshi, Sakata-Yanagimoto, Mamiko, Ishiyama, Ken, Mori, Hiraku, Nolte, Florian, Hofmann, Wolf-Karsten, Miyawaki, Shuichi, Sugano, Sumio, Haferlach, Claudia, Koeffler, H. Phillip, Shih, Lee-Yung, Haferlach, Torsten, Chiba, Shigeru, Nakauchi, Hiromitsu, Miyano, Satoru, Ogawa, Seishi·2011·Nature

DOI 10.1038/nature10496

Open this paper in CoChat — free account

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.

Integrity signals

Registry

Crossref · 10.1038/nature10496

Cites

37 of 37 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

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?

Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles
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
Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin
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

Flagged first, then by citations

Show all 37 references

Sorted by citations

Items 501–600 of 1,002

RNA-binding proteins: Underestimated contributors in tumorigenesis
Zhao, Y., Mir, C., Garcia‐Mayea, Y., Paciucci, R., Kondoh, H., & LLeonart, M. E. (2022) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2022.01.010 · Cited by 60
Development and validation of a comprehensive genomic diagnostic tool for myeloid malignancies
McKerrell, T., Moreno-Rodriguez, T., Ponstingl, H., Bolli, N., Dias, J. M. L., Tischler, G., Colonna, V., Manasse, B., Bench, A. J., Bloxham, D. M., et al. (2016) · Blood · doi:10.1182/blood-2015-11-683334 · Cited by 60
Genomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals novel recurrent driver mutations
Spinella, J.-F., Cassart, P., Richer, C., Saillour, V., Ouimet, M., Langlois, S., St-Onge, P., Sontag, T., Healy, J., Minden, M. D., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.11796 · Cited by 60
Aberrant splicing in B-cell acute lymphoblastic leukemia
Black, K. L., Naqvi, A. S., Asnani, M., Hayer, K. E., Yang, S. Y., Gillespie, E. B., Bagashev, A., Pillai, V., Tasian, S. K., Gazzara, M. R., et al. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky946 · Cited by 61
Single-cell genomics reveals the genetic and molecular bases for escape from mutational epistasis in myeloid neoplasms
Taylor, J., Mi, X., North, K., Binder, M., Penson, A. V., Lasho, T. L., Knorr, K. L. B., Haddadin, M., Liu, B., Pangallo, J., et al. (2020) · Blood · doi:10.1182/blood.2020006868 · Cited by 62
Clinical implications of the SETBP1 mutation in patients with primary myelodysplastic syndrome and its stability during disease progression
Hou, H., Kuo, Y., Tang, J., Chou, W., Yao, M., Lai, Y.-J., Lin, C., Chen, C., Liu, C., Tseng, M., et al. (2013) · American Journal of Hematology · doi:10.1002/ajh.23611 · Cited by 59
Arginine methyltransferases in normal and malignant hematopoiesis
Greenblatt, S. M., Liu, F., & Nimer, S. D. (2016) · Experimental Hematology · doi:10.1016/j.exphem.2016.03.009 · Cited by 60
The spliceosome U2 snRNP factors promote genome stability through distinct mechanisms; transcription of repair factors and R-loop processing
Tanikawa, M., Sanjiv, K., Helleday, T., Herr, P., & Mortusewicz, O. (2016) · Oncogenesis · doi:10.1038/oncsis.2016.70 · Cited by 59
Molecular disease monitoring using circulating tumor DNA in myelodysplastic syndromes
Yeh, P. S.-H., Dickinson, M. J., Ftouni, S., Hunter, T., Sinha, D., Wong, S. Q., Agarwal, R., Vedururu, R., Doig, K., Fong, C. Y., et al. (2017) · Blood · doi:10.1182/blood-2016-09-740308 · Cited by 59
Dissecting the Contributions of Cooperating Gene Mutations to Cancer Phenotypes and Drug Responses with Patient-Derived iPSCs
Chang, C.-J., Kotini, A. G., Olszewska, M., Georgomanoli, M., Teruya‐Feldstein, J., Sperber, H., Sánchez, R., DeVita, R. J., Martins, T. J., Abdel-Wahab, O. I., et al. (2018) · Stem Cell Reports · doi:10.1016/j.stemcr.2018.03.020 · Cited by 59
Nuclear PTEN safeguards pre-mRNA splicing to link Golgi apparatus for its tumor suppressive role
Shen, S.-M., Ji, Y., Zhang, C., Dong, S.-S., Yang, S., Xiong, Z., Ge, M.-K., Yu, Y., Li, X., Guo, M., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-04760-1 · Cited by 59
The BRG1/SOX9 axis is critical for acinar cell–derived pancreatic tumorigenesis
Tsuda, M., Fukuda, A., Roy, N., Hiramatsu, Y., Leonhardt, L., Kakiuchi, N., Hoyer, K., Ogawa, S., Goto, N., Ikuta, K., et al. (2018) · Journal of Clinical Investigation · doi:10.1172/jci94287 · Cited by 62
Self-citation
The K666N mutation in SF3B1 is associated with increased progression of MDS and distinct RNA splicing
Dalton, W. B., Helmenstine, E., Pieterse, L., Li, B., Gocke, C. D., Donaldson, J. M., Xiao, Z., Gondek, L. P., Ghiaur, G., Gojo, I., et al. (2020) · Blood Advances · doi:10.1182/bloodadvances.2019001127 · Cited by 65
SF3B1 mutant-induced missplicing of MAP3K7 causes anemia in myelodysplastic syndromes
Lieu, Y. K., Liu, Z., Ali, A. M., Wei, X., Penson, A., Zhang, J., An, X., Rabadán, R., Raza, A., Manley, J. L., et al. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2111703119 · Cited by 63
Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast
Nagasawa, S., Kuze, Y., Maeda, I., Kojima, Y., Motoyoshi, A., Onishi, T., Iwatani, T., Yokoe, T., Koike, J., Chosokabe, M., et al. (2021) · Communications Biology · doi:10.1038/s42003-021-01959-9 · Cited by 59
Self-citation
HNRNPM controls circRNA biogenesis and splicing fidelity to sustain cancer cell fitness
Ho, J., Tullio, F. D., Schwarz, M. C., Low, D. H. P., Incarnato, D., Gay, F. P. H., Tabaglio, T., Zhang, J., Wollmann, H., Chen, L., et al. (2021) · eLife · doi:10.7554/elife.59654 · Cited by 60
Inflammatory Cytokines Shape an Altered Immune Response During Myeloid Malignancies
Camacho, V., Kuznetsova, V., & Welner, R. S. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2021.772408 · Cited by 60
Synthetic introns enable splicing factor mutation-dependent targeting of cancer cells
North, K., Benbarche, S., Liu, B., Pangallo, J., Chen, S., Stahl, M. F., Bewersdorf, J. P., Stanley, R. F., Erickson, C., Cho, H., et al. (2022) · Nature Biotechnology · doi:10.1038/s41587-022-01224-2 · Cited by 59
Genomic landscape of CD34 + hematopoietic cells in myelodysplastic syndrome and gene mutation profiles as prognostic markers
Xu, L. P., Gu, Z., Li, Y., Zhang, J.-L., Chang, C., Pan, C., Shi, J., Shen, Y., Chen, B., Wang, Y., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1407688111 · Cited by 58
Oncogenic splicing abnormalities induced by DEAD ‐Box Helicase 56 amplification in colorectal cancer
Kouyama, Y., Masuda, T., Fujii, A., Ogawa, Y., Sato, K., Tobo, T., Wakiyama, H., Yoshikawa, Y., Noda, M., Tsuruda, Y., et al. (2019) · Cancer Science · doi:10.1111/cas.14163 · Cited by 58
A novel 3′ splice site recognition by the two zinc fingers in the U2AF small subunitPreprint
Hisashi, Y., Sam-Yong, P., Takashi, O., Taeko, A., Mamoru, S., Mikako, S., Kengo, T., Kanako, K., Satoru, U., Yutaka, M., et al. (2015) · Genes & Development · doi:10.1101/gad.267104.115 · Cited by 58
The utility of next‐generation sequencing in diagnosis and monitoring of acute myeloid leukemia and myelodysplastic syndromes
Duncavage, E. J., & Tandon, B. (2015) · International Journal of Laboratory Hematology · doi:10.1111/ijlh.12361 · Cited by 58
Functional analyses of human LUC7-like proteins involved in splicing regulation and myeloid neoplasms
Daniels, N. J., Hershberger, C. E., Gu, X., Schueger, C., DiPasquale, W. M., Brick, J., Saunthararajah, Y., Maciejewski, J. P., & Padgett, R. A. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.108989 · Cited by 58
Lessons from next-generation sequencing analysis in hematological malignancies
Braggio, E., Egan, J. B., Fonseca, R., & Stewart, A. K. (2013) · Blood Cancer Journal · doi:10.1038/bcj.2013.26 · Cited by 57
Two splice-factor mutant leukemia subgroups uncovered at the boundaries of MDS and AML using combined gene expression and DNA-methylation profiling
Taskesen, E., Havermans, M., van Lom, K., Sanders, M. A., van Norden, Y., Bindels, E. M., Hoogenboezem, R. M., Reinders, M. J. T., Figueroa, M. E., Valk, P. J. M., et al. (2014) · Blood · doi:10.1182/blood-2013-07-512855 · Cited by 62
When clinical heterogeneity exceeds genetic heterogeneity: thinking outside the genomic box in chronic myelomonocytic leukemia
Ball, M., List, A. F., & Padron, E. (2016) · Blood · doi:10.1182/blood-2016-07-692988 · Cited by 63
Srsf2 P95H initiates myeloid bias and myelodysplastic/myeloproliferative syndrome from hemopoietic stem cells
Smeets, M. F. M. A., Tan, S. Y., Xu, J. J., Anande, G., Unnikrishnan, A., Chalk, A. M., Taylor, S., Pimanda, J. E., Wall, M., Purton, L. E., et al. (2018) · Blood · doi:10.1182/blood-2018-04-845602 · Cited by 61
Complex landscape of alternative splicing in myeloid neoplasms
Hershberger, C. E., Moyer, D. C., Ademà, V., Kerr, C. M., Walter, W., Hütter, S., Meggendorfer, M., Baer, C. R., Kern, W., Nadarajah, N., et al. (2020) · Leukemia · doi:10.1038/s41375-020-1002-y · Cited by 59
Self-citation
Targeted resequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression
Pellagatti, A., Roy, S., Genua, C. D., Burns, A., McGraw, K. L., Valletta, S., Larráyoz, M. J., Fernández‐Mercado, M., Mason, J., Killick, S. B., et al. (2015) · Leukemia · doi:10.1038/leu.2015.129 · Cited by 58
Structure, phosphorylation and U2AF65 binding of the N-terminal domain of splicing factor 1 during 3′-splice site recognition
Zhang, Y., Madl, T., Bagdiul, I., Kern, T., Kang, H.-S., Zou, P., Mäusbacher, N., Sieber, S. A., Krämer, A., & Sattler, M. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks1097 · Cited by 57
Myelodysplastic syndromes with ring sideroblasts ( MDS‐RS ) and MDS /myeloproliferative neoplasm with RS and thrombocytosis ( MDS/MPN‐RS‐T ) – “ 2021 update on diagnosis, risk‐stratification, and management”
Patnaik, M. M., & Tefferi, A. (2021) · American Journal of Hematology · doi:10.1002/ajh.26090 · Cited by 57
Clonal hematopoiesis and hematological malignancy
Dunn, W. G., McLoughlin, M. A., & Vassiliou, G. S. (2024) · Journal of Clinical Investigation · doi:10.1172/jci180065 · Cited by 63
Spliceosome mutations in hematopoietic malignancies
Hahn, C. N., & Scott, H. S. (2011) · Nature Genetics · doi:10.1038/ng.1045 · Cited by 59
Cancer-relevant Splicing Factor CAPERα Engages the Essential Splicing Factor SF3b155 in a Specific Ternary Complex
Loerch, S., Maucuer, A., Manceau, V., Green, M. R., & Kielkopf, C. L. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.558825 · Cited by 58
Dual mechanisms by which miR-125b represses IRF4 to induce myeloid and B-cell leukemias
So, A. Y., Sookram, R., Chaudhuri, A. A., Minisandram, A., Cheng, D., Xie, C. B., Lim, E. L., Garcia-Flores, Y., Jiang, S., Kim, J. T., et al. (2014) · Blood · doi:10.1182/blood-2014-02-553842 · Cited by 56
Jerantinine A induces tumor-specific cell death through modulation of splicing factor 3b subunit 1 (SF3B1)
Chung, F. F., Tan, P. F. T. M., Raja, V. J., Tan, B.-S., Lim, K., Kam, T., Hii, L., Tan, S. H., See, S.-J., Tan, Y.-F., et al. (2017) · Scientific Reports · doi:10.1038/srep42504 · Cited by 58
DNA-hypomethylating agents as epigenetic therapy before and after allogeneic hematopoietic stem cell transplantation in myelodysplastic syndromes and juvenile myelomonocytic leukemia
Flotho, C., Sommer, S., & Lübbert, M. (2017) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2017.10.011 · Cited by 57
High frequencies of SF3B1 and JAK2 mutations in refractory anemia with ring sideroblasts associated with marked thrombocytosis strengthen the assignment to the category of myelodysplastic/myeloproliferative neoplasms
Jeromin, S., Haferlach, T., Großmann, V., Alpermann, T., Kowarsch, A., Haferlach, C., Kern, W., & Schnittger, S. (2012) · Haematologica · doi:10.3324/haematol.2012.072538 · Cited by 55
Self-citation
Unbiased Detection of Driver Mutations in Extramammary Paget Disease
Ishida, Y., Kakiuchi, N., Yoshida, K., Inoue, Y., Irie, H., Kataoka, T. R., Hirata, M., Funakoshi, T., Matsushita, S., Hata, H., et al. (2020) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-20-3205 · Cited by 55
Self-citation
Unique ethnic features of DDX41 mutations in patients with idiopathic cytopenia of undetermined significance, myelodysplastic syndrome, or acute myeloid leukemia
Choi, E., Cho, Y., Hur, E., Jang, S., Kim, N., Park, H., Lee, J., Lee, K., Kim, S., Hwang, S., et al. (2021) · Haematologica · doi:10.3324/haematol.2020.270553 · Cited by 55
Zebrafish as a model for understanding the evolution of the vertebrate immune system and human primary immunodeficiency
Iwanami, N. (2014) · Experimental Hematology · doi:10.1016/j.exphem.2014.05.001 · Cited by 54
Identification of Novel Deregulated RNA Metabolism-Related Genes in Non-Small Cell Lung Cancer
Valles, I., Pajares, M. J., Segura, V., Guruceaga, E., Gómez‐Román, J., Blanco, D., Tamura, A., Montuenga, L. M., & Pı́o, R. (2012) · PLoS ONE · doi:10.1371/journal.pone.0042086 · Cited by 54
IMPORTANCE OF CLASSICAL MORPHOLOGY IN THE DIAGNOSIS OF MYELODYSPLASTIC SYNDROME
Invernizzi, R., Quaglia, F., & Porta, M. G. D. (2015) · Mediterranean Journal of Hematology and Infectious Diseases · doi:10.4084/mjhid.2015.035 · Cited by 53
Integrative RNA-omics Discovers GNAS Alternative Splicing as a Phenotypic Driver of Splicing Factor–Mutant Neoplasms
Wheeler, E. C., Vora, S., Mayer, D., Kotini, A. G., Olszewska, M., Park, S. S., Guccione, E., Teruya‐Feldstein, J., Silverman, L. R., Sunahara, R. K., et al. (2021) · Cancer Discovery · doi:10.1158/2159-8290.cd-21-0508 · Cited by 54
Cancer-Associated SF3B1 Mutations Confer a BRCA-Like Cellular Phenotype and Synthetic Lethality to PARP Inhibitors
Lappin, K. M., Barros, E. M., Jhujh, S. S., Irwin, G. W., McMillan, H. P., Liberante, F. G., Latimer, C., LaBonte, M. J., Mills, K., Harkin, D. P., et al. (2022) · Cancer Research · doi:10.1158/0008-5472.can-21-1843 · Cited by 54
Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities
Venkataramany, A. S., Schieffer, K. M., Lee, K., Cottrell, C. E., Wang, P. Y., Mardis, E. R., Cripe, T. P., & Chandler, D. S. (2022) · Annals of Oncology · doi:10.1016/j.annonc.2022.03.011 · Cited by 57
Splicing inhibition of U2AF 65 leads to alternative exon skipping
Cho, S., Moon, H., Loh, T. J., Jang, H. N., Liu, Y., Zhou, J., Ohn, T., Zheng, X., & Shen, H. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1500639112 · Cited by 55
Biology of Heme in Mammalian Erythroid Cells and Related Disorders
Fujiwara, T., & Harigae, H. (2015) · BioMed Research International · doi:10.1155/2015/278536 · Cited by 55
New insights into transfusion-related iron toxicity: Implications for the oncologist
Porter, J. B., de Witte, T., Cappellini, M. D., & Gattermann, N. (2015) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2015.11.017 · Cited by 55
NOTCH2 and FLT3 gene mis-splicings are common events in patients with acute myeloid leukemia (AML): new potential targets in AML
Adamia, S., Bar‐Natan, M., Haibe‐Kains, B., Pilarski, P. M., Bach, C., Pevzner, S. J., Calimeri, T., Avet‐Loiseau, H., Lodé, L., Verselis, S. J., et al. (2014) · Blood · doi:10.1182/blood-2013-02-481507 · Cited by 57
Robustness of Amplicon Deep Sequencing Underlines Its Utility in Clinical Applications
Grossmann, V., Roller, A., Klein, H., Weißmann, S., Kern, W., Haferlach, C., Dugas, M., Haferlach, T., Schnittger, S., & Kohlmann, A. (2013) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2013.03.003 · Cited by 52
Self-citation
Pre-mRNA splicing in cancer: the relevance in oncogenesis, treatment and drug resistance
Wojtuszkiewicz, A., Assaraf, Y. G., Maas, M. J., Kaspers, G. J. L., Jansen, G., & Cloos, J. J. (2014) · Expert Opinion on Drug Metabolism & Toxicology · doi:10.1517/17425255.2015.993316 · Cited by 52
Splicing Factor Mutations in Cancer
Bejar, R. L. (2016) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-29073-7_9 · Cited by 53
Exploration of the role of gene mutations in myelodysplastic syndromes through a sequencing design involving a small number of target genes
Xu, F., Wu, L., He, Q., Wu, D., Zhang, Z., Song, L., Zhao, Y., Su, J., Zhou, L.-Y., Guo, J., et al. (2017) · Scientific Reports · doi:10.1038/srep43113 · Cited by 52
Molecular analysis of myelodysplastic syndrome with isolated deletion of the long arm of chromosome 5 reveals a specific spectrum of molecular mutations with prognostic impact: a study on 123 patients and 27 genes
Meggendorfer, M., Haferlach, C., Kern, W., & Haferlach, T. (2017) · Haematologica · doi:10.3324/haematol.2017.166173 · Cited by 54
Self-citation
Alternative Splicing: Expanding the Landscape of Cancer Biomarkers and Therapeutics
Bessa, C., Matos, P., Jordan, P., & Gonçalves, V. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21239032 · Cited by 55
Splicing factor gene mutations in acute myeloid leukemia offer additive value if incorporated in current risk classification
van der Werf, I. M., Wojtuszkiewicz, A., Meggendorfer, M., Hütter, S., Baer, C. R., Heymans, M. W., Valk, P. J. M., Kern, W., Haferlach, C., Janssen, J. J. W. M., et al. (2021) · Blood Advances · doi:10.1182/bloodadvances.2021004556 · Cited by 52
Self-citation
DHX15 is involved in SUGP1-mediated RNA missplicing by mutant SF3B1 in cancer
Zhang, J., Huang, J. W., Xu, K., Xing, P., Huang, Y., Liu, Z., Tong, L., & Manley, J. L. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2216712119 · Cited by 53
SF3B1 deficiency impairs human erythropoiesis via activation of p53 pathway: implications for understanding of ineffective erythropoiesis in MDS
Huang, Y., Hale, J., Wang, Y., Li, W., Zhang, S., Zhang, J., Zhao, H., Guo, X., Liu, J., Yan, H., et al. (2018) · Journal of Hematology & Oncology · doi:10.1186/s13045-018-0558-8 · Cited by 54
Current status and trends in the diagnostics of AML and MDS
Shumilov, E., Flach, J., Kohlmann, A., Banz, Y., Bonadies, N., Fiedler, M., Pabst, T., & Bacher, U. (2018) · Blood Reviews · doi:10.1016/j.blre.2018.04.008 · Cited by 52
Abnormal X chromosome inactivation and tumor development
Wang, D., Tang, L. M., Wu, Y., Fan, C., Zhang, S., Xiang, B., Zhou, M., Li, X., Li, Y., Li, G., et al. (2020) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-020-03469-z · Cited by 51
Mis-splicing-derived neoantigens and cognate TCRs in splicing factor mutant leukemias
Kim, W. J., Crosse, E. I., Neef, E. D., Etxeberría, I., Sabio, E. Y., Wang, E., Bewersdorf, J. P., Lin, K., Lu, S. X., Belleville, A. E., et al. (2025) · Cell · doi:10.1016/j.cell.2025.03.047 · Cited by 52
The biology and clinical impact of genetic lesions in myeloid malignancies
Lindsley, R. C., & Ebert, B. L. (2013) · Blood · doi:10.1182/blood-2013-06-460295 · Cited by 50
Clinical Implications of the SETBP1 Mutation in Patients With Primary Myelodysplastic Syndrome and its Stability During Disease Progression
Hou, H., Kuo, Y. Y., Tang, J., Chou, W. W., Yao, M., Lai, Y., Lin, C., Chen, C., Liu, C. Y., Lee, M. C., et al. (2014) · Clinical Lymphoma Myeloma & Leukemia · doi:10.1016/j.clml.2014.06.095 · Cited by 50
Differential expression of alternatively spliced transcripts related to energy metabolism in colorectal cancer
Snezhkina, A. V., Krasnov, G. S., Zaretsky, A. R., Zhavoronkov, A. A., Nyushko, K. М., Moskalev, A., Karpova, I. Y., Afremova, A. I., Lipatova, A. V., Кочетков, Д. В., et al. (2016) · BMC Genomics · doi:10.1186/s12864-016-3351-5 · Cited by 51
The mutational landscape of 18 investigated genes clearly separates four subtypes of myelodysplastic/myeloproliferative neoplasms
Meggendorfer, M., Jeromin, S., Haferlach, C., Kern, W., & Haferlach, T. (2018) · Haematologica · doi:10.3324/haematol.2017.183160 · Cited by 50
Self-citation
A comprehensive expression landscape of RNA-binding proteins (RBPs) across 16 human cancer types
Zhang, B., Babu, K. R., Lim, C. Y., Kwok, Z. H., Li, J., Zhou, S., Yang, H. H., & Tay, Y. (2019) · RNA Biology · doi:10.1080/15476286.2019.1673657 · Cited by 50
Functional significance of U2AF1 S34F mutations in lung adenocarcinomas
Esfahani, M. S., Lee, L. J., Jeon, Y.-J., Flynn, R. A., Stehr, H., Hui, A. B., Ishisoko, N., Kildebeck, E., Newman, A. M., Bratman, S. V., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-13392-y · Cited by 52
Mesenchymal stromal cells shape the MDS microenvironment by inducing suppressive monocytes that dampen NK cell function
Sarhan, D., Wang, J., Arvindam, U. S., Hallstrom, C., Verneris, M. R., Grzywacz, B. J., Warlick, E. D., Blazar, B. R., & Miller, J. S. (2020) · JCI Insight · doi:10.1172/jci.insight.130155 · Cited by 55
Contribution of Aberrant Toll Like Receptor Signaling to the Pathogenesis of Myelodysplastic Syndromes
Paracatu, L. C., & Schuettpelz, L. G. (2020) · Frontiers in Immunology · doi:10.3389/fimmu.2020.01236 · Cited by 51
Genetic and Genomic Landscape of Secondary and Therapy-Related Acute Myeloid Leukemia
Higgins, A. S., & Shah, M. V. (2020) · Genes · doi:10.3390/genes11070749 · Cited by 51
Noncanonical functions of the serine‐arginine‐rich splicing factor (SR) family of proteins in development and disease
Wagner, R. E., & Frye, M. (2021) · BioEssays · doi:10.1002/bies.202000242 · Cited by 50
The genetic basis of mast cell activation disease - looking through a glass darkly
Molderings, G. J. (2015) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2014.09.001 · Cited by 50
−7/7q− syndrome in myeloid-lineage hematopoietic malignancies: attempts to understand this complex disease entity
Honda, H., Nagamachi, A., & Inaba, T. (2014) · Oncogene · doi:10.1038/onc.2014.196 · Cited by 50
Next-generation sequencing reveals the secrets of the chronic lymphocytic leukemia genome
Ramsay, A. J., Martínez‐Trillos, A., Jares, P., Rodrı́guez, D., Kwarciak, A., & Quesada, V. (2012) · Clinical & Translational Oncology · doi:10.1007/s12094-012-0922-z · Cited by 50
Stromal cells expressing hedgehog-interacting protein regulate the proliferation of myeloid neoplasms
Kobune, M., Iyama, S., Kikuchi, S., Horiguchi, H., Sato, T., Murase, K., Kawano, Y., Takada, K., Ono, K., Kamihara, Y., et al. (2012) · Blood Cancer Journal · doi:10.1038/bcj.2012.36 · Cited by 49
Self-citation
Association of cup-like nuclei in blasts with FLT3 and NPM1 mutations in acute myeloid leukemia
Park, B. G., Chi, H., Jang, S., Park, C., Kim, D., Lee, J., Lee, J., & Lee, K. (2012) · Annals of Hematology · doi:10.1007/s00277-012-1645-5 · Cited by 49
Modulation of Alternative Splicing with Chemical Compounds in New Therapeutics for Human Diseases
Ohe, K., & Hagiwara, M. (2015) · ACS Chemical Biology · doi:10.1021/cb500697f · Cited by 50
Recent advances in understanding myelofibrosis and essential thrombocythemia
Vainchenker, W., Constantinescu, S. N., & Plo, I. (2016) · F1000Research · doi:10.12688/f1000research.8081.1 · Cited by 54
The clonal origins of leukemic progression of myelodysplasia
Kim, T., Tyndel, M. S., Kim, H., Ahn, J.-S., Choi, S. H., Park, H., Kim, Y.-K., Yang, D.-H., Lee, J.-J., Jung, S.-H., et al. (2017) · Leukemia · doi:10.1038/leu.2017.17 · Cited by 49
SUMO conjugation to spliceosomal proteins is required for efficient pre-mRNA splicing
Pozzi, B., Bragado, L., Will, C. L., Mammi, P., Risso, G., Urlaub, H., Lührmann, R., & Srebrow, A. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx213 · Cited by 49
PUF60-activated exons uncover altered 3′ splice-site selection by germline missense mutations in a single RRM
Královičová, J., Borovská, I., Stejskalová, E., Obuća, M., Hiller, M., Staněk, D., & Vořechovský, I. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky389 · Cited by 52
Autophagy regulation by RNA alternative splicing and implications in human diseases
González-Rodríguez, P., Klionsky, D. J., & Joseph, B. (2022) · Nature Communications · doi:10.1038/s41467-022-30433-1 · Cited by 49
The circSPON2/miR-331-3p axis regulates PRMT5, an epigenetic regulator of CAMK2N1 transcription and prostate cancer progression
Yao, B., Zhu, S., Wei, X., Chen, M., Feng, Y., Li, Z., Xu, X., Zhang, Y., Wang, Y., Zhou, J., et al. (2022) · Molecular Cancer · doi:10.1186/s12943-022-01598-6 · Cited by 48
Steering research on mRNA splicing in cancer towards clinical translation
Anczuków, O., Allain, F. H. ‐., Angarola, B. L., Black, D. L., Brooks, A. N., Cheng, C., Conesa, A., Crosse, E. I., Eyras, E., Guccione, E., et al. (2024) · Nature reviews. Cancer · doi:10.1038/s41568-024-00750-2 · Cited by 50
A role for miR-142-3p in colony-stimulating factor 1-induced monocyte differentiation into macrophages
Lagrange, B., Martin, R. Z., Droin, N. M., Aucagne, R., Paggetti, J., Largeot, A., Itzykson, R., Solary, É., Delva, L., & Bastie, J.-N. (2013) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2013.04.007 · Cited by 53
Prognostic analysis according to the 2017 ELN risk stratification by genetics in adult acute myeloid leukemia patients treated in the Japan Adult Leukemia Study Group (JALSG) AML201 study
Harada, Y., Nagata, Y., Kihara, R., Ishikawa, Y., Asou, N., Ohtake, S., Miyawaki, S., Sakura, T., Ozawa, Y., Usui, N., et al. (2018) · Leukemia Research · doi:10.1016/j.leukres.2018.01.008 · Cited by 52
Self-citation
Replication stress triggers microsatellite destabilization and hypermutation leading to clonal expansion in vitro
Matsuno, Y., Atsumi, Y., Shimizu, A., Katayama, K., Fujimori, H., Hyodo, M., Minakawa, Y., Nakatsu, Y., Kaneko, S., Hamamoto, R., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-11760-2 · Cited by 49
Self-citation
Elucidation of the aberrant 3′ splice site selection by cancer-associated mutations on the U2AF1
Yoshida, H., Park, S., Sakashita, G., Nariai, Y., Kuwasako, K., Muto, Y., Urano, T., & OBAYASHI, E. (2020) · Nature Communications · doi:10.1038/s41467-020-18559-6 · Cited by 48
The Role of the U5 snRNP in Genetic Disorders and Cancer
Wood, K., Eadsforth, M. A., Newman, W. G., & O’Keefe, R. T. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.636620 · Cited by 48
Progression in patients with low- and intermediate-1-risk del(5q) myelodysplastic syndromes is predicted by a limited subset of mutations
Scharenberg, C., Giai, V., Pellagatti, A., Saft, L., Dimitriou, M., Jansson, M., Jädersten, M., Grandien, A., Douagi, I., Neuberg, D. S., et al. (2017) · Haematologica · doi:10.3324/haematol.2016.152025 · Cited by 47
Alternative Splicing QTLs in European and African Populations
Ongen, H., & Dermitzakis, E. T. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.09.004 · Cited by 50
The molecular basis and clinical significance of genetic mutations identified in myelodysplastic syndromes
Zhang, L., Padron, E., & Lancet, J. E. (2014) · Leukemia Research · doi:10.1016/j.leukres.2014.10.006 · Cited by 47
Identification of Gene Expression–Based Prognostic Markers in the Hematopoietic Stem Cells of Patients With Myelodysplastic Syndromes
Pellagatti, A., Benner, A., Mills, K., Cazzola, M., Giagounidis, A. A. N., Perry, J., Malcovati, L., Porta, M. G. D., Jädersten, M., Verma, A. K., et al. (2013) · Journal of Clinical Oncology · doi:10.1200/jco.2012.45.5626 · Cited by 47
DNA Sequencing of Cancer: What Have We Learned?
Chmielecki, J., & Meyerson, M. M. (2013) · Annual Review of Medicine · doi:10.1146/annurev-med-060712-200152 · Cited by 48
Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia
Fujiwara, T., & Harigae, H. (2018) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2018.08.008 · Cited by 47
RNA Splicing Alterations Induce a Cellular Stress Response Associated with Poor Prognosis in Acute Myeloid Leukemia
Anande, G., Deshpande, N., Mareschal, S., Batcha, A. M. N., Hampton, H. R., Herold, T., Lehmann, S., Wilkins, M. R., Wong, J. W. H., Unnikrishnan, A., et al. (2020) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-20-0184 · Cited by 49
Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features
Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., et al. (2024) · Journal of Clinical Investigation · doi:10.1172/jci171235 · Cited by 46
Pre-mRNA splicing-associated diseases and therapies
Love, S. L., Emerson, J. D., Koide, K., & Hoskins, A. A. (2023) · RNA Biology · doi:10.1080/15476286.2023.2239601 · Cited by 50
Helicase-assisted continuous editing for programmable mutagenesis of endogenous genomes
Chen, X. D., Chen, Z., Wythes, G., Zhang, Y., Orr, B. C., Sun, G., Chao, Y.-K., Torres, A. N., Thao, K., Vallurupalli, M., et al. (2024) · Science · doi:10.1126/science.adn5876 · Cited by 47

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
Publisher: Springer Science and Business Media LLC
Published: 2011-09-11
Volume: 478
Issue: 7367
Pages: 64-69
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature10496
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

Frequent pathway mutations of splicing machinery in myelodysplasia

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks