Cited by 513Acute Myeloid Leukemia ResearchGlioma Diagnosis and TreatmentCancer, Hypoxia, and Metabolism

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IDH1(R132H) mutation increases murine haematopoietic progenitors and alters epigenetics

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Sasaki, Masato, Knobbe, Christiane B., Munger, Joshua C., Lind, Evan F., Brenner, Dirk, Brüstle, Anne, Harris, Isaac S., Holmes, Roxanne, Wakeham, Andrew, Haight, Jillian, You-Ten, Annick, Li, Wanda Y., Schalm, Stefanie, Su, Shinsan M., Virtanen, Carl, Reifenberger, Guido, Ohashi, Pamela S., Barber, Dwayne L., Figueroa, Maria E., Melnick, Ari, Zúñiga-Pflücker, Juan-Carlos, Mak, Tak W.·2012·Nature

DOI 10.1038/nature11323PMC PMC4005896

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Abstract

Mutations in the IDH1 and IDH2 genes encoding isocitrate dehydrogenases are frequently found in human glioblastomas and cytogenetically normal acute myeloid leukaemias (AML). These alterations are gain-of-function mutations in that they drive the synthesis of the ‘oncometabolite’ R-2-hydroxyglutarate (2HG). It remains unclear how IDH1 and IDH2 mutations modify myeloid cell development and promote leukaemogenesis. Here we report the characterization of conditional knock-in (KI) mice in which the most common IDH1 mutation, IDH1(R132H), is inserted into the endogenous murine Idh1 locus and is expressed in all haematopoietic cells (Vav-KI mice) or specifically in cells of the myeloid lineage (LysM-KI mice). These mutants show increased numbers of early haematopoietic progenitors and develop splenomegaly and anaemia with extramedullary haematopoiesis, suggesting a dysfunctional bone marrow niche. Furthermore, LysM-KI cells have hypermethylated histones and changes to DNA methylation similar to those observed in human IDH1- or IDH2-mutant AML. To our knowledge, our study is the first to describe the generation and characterization of conditional IDH1(R132H)-KI mice, and also the first report to demonstrate the induction of a leukaemic DNA methylation signature in a mouse model. Our report thus sheds light on the mechanistic links between IDH1 mutation and human AML.

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Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing
Benjamini, Y., & Hochberg, Y. (1995) · Journal of the Royal Statistical Society Series B: Statistical Methodology · doi:10.1111/j.2517-6161.1995.tb02031.x · Cited by 109,482
Linear Models and Empirical Bayes Methods for Assessing Differential Expression in Microarray Experiments
Smyth, G. K. (2004) · Statistical Applications in Genetics and Molecular Biology · doi:10.2202/1544-6115.1027 · Cited by 11,829
The control of the false discovery rate in multiple testing under dependency
Benjamini, Y., & Yekutieli, D. (2001) · The Annals of Statistics · doi:10.1214/aos/1013699998 · Cited by 10,490
Statistical significance for genomewide studies
Storey, J. D., & Tibshirani, R. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1530509100 · Cited by 9,692
An Integrated Genomic Analysis of Human Glioblastoma Multiforme
Parsons, D. W., Jones, S., Zhang, X., Lin, J. C.-H., Leary, R. J., Angenendt, P., Mankoo, P., Carter, H., Siu, I.-M., Gallia, G. L., et al. (2008) · Science · doi:10.1126/science.1164382 · Cited by 5,857
Bismark: a flexible aligner and methylation caller for Bisulfite-Seq applications
Krueger, F., & Andrews, S. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr167 · Cited by 5,275
Cancer-associated IDH1 mutations produce 2-hydroxyglutarate
Dang, L., White, D. W., Gross, S., Bennett, B. D., Bittinger, M. A., Driggers, E. M., Fantin, V. R., Jang, H. G., Jin, S., Keenan, M. C., et al. (2009) · Nature · doi:10.1038/nature08617 · Cited by 4,154
Self-citation
Oncometabolite 2-Hydroxyglutarate Is a Competitive Inhibitor of α-Ketoglutarate-Dependent Dioxygenases
Xu, W., Yang, H., Liu, Y., Yang, Y., Wang, P., Kim, S.-H., Ito, S., Yang, C., Wang, P., Xiao, M.-T., et al. (2011) · Cancer Cell · doi:10.1016/j.ccr.2010.12.014 · Cited by 2,875
Leukemic IDH1 and IDH2 Mutations Result in a Hypermethylation Phenotype, Disrupt TET2 Function, and Impair Hematopoietic Differentiation
Figueroa, M. E., Abdel-Wahab, O., Lu, C., Ward, P. S., Patel, J., Shih, A., Li, Y., Bhagwat, N., Vasanthakumar, A., Fernandez, H. F., et al. (2010) · Cancer Cell · doi:10.1016/j.ccr.2010.11.015 · Cited by 2,766
Self-citation
Identification of a CpG Island Methylator Phenotype that Defines a Distinct Subgroup of Glioma
Noushmehr, H., Weisenberger, D. J., Diefes, K., Phillips, H. S., Pujara, K., Berman, B. P., Pan, F., Pelloski, C. E., Sulman, E. P., Bhat, K. P., et al. (2010) · Cancer Cell · doi:10.1016/j.ccr.2010.03.017 · Cited by 2,337

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DNA Methylation and Hydroxymethylation in Cancer
Asmar, F., Helbo, A. S., & Grønbæk, K. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-800206-3.00002-1 · Cited by 8
Beyond the Oncogene Revolution: Four New Ways to Combat CancerPreprint
Berger, T., Saunders, M. E., & Mak, T. W. (2016) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2016.81.031161 · Cited by 8
Self-citation
Mutant IDH1 cooperates with NPM1c or FLT3 ITD to drive distinct myeloid diseases and molecular outcomes
Sakamoto, T., Leca, J., Zhang, X., Meydan, C., Foox, J., Ramachandran, P., Hendrikse, L. D., Zhou, W., Berger, T., Fortin, J., et al. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2415779122 · Cited by 7
Self-citation
Single-center, observational study of AML/MDS-EB with IDH1/2 mutations: genetic profile, immunophenotypes, mutational kinetics and outcomes
Papadopoulou, V., Schoumans, J., Basset, V., Solly, F., Pasquier, J., Blum, S., & Spertini, O. (2023) · Hematology · doi:10.1080/16078454.2023.2180704 · Cited by 7
N6-Methyladenosine RNA Modification in Normal and Malignant Hematopoiesis
Weng, H., Huang, H., & Chen, J. (2023) · Advances in experimental medicine and biology · doi:10.1007/978-981-99-7471-9_7 · Cited by 7
AC220 and AraC cause differential inhibitory dynamics in patient-derived M5-AML with FLT3-ITD and, thus, ultimately distinct therapeutic outcomes
An, X., Liu, J., Wang, N., Wang, D., Huang, L., Zhang, L., Cai, J., Wery, J., Zhou, D., Zhou, J., et al. (2016) · Experimental Hematology · doi:10.1016/j.exphem.2016.09.004 · Cited by 7
Isocitrate Dehydrogenase Mutations in Human Cancers: Physiopathologic Mechanisms and Therapeutic Targeting
malignancy, A. I. A. H. H., mutations, C. B. T. A. O. V. S. G. A. A. O. I. M. C. A. A. V. S. O. M. S. C. O. I. T. L. 2. D. H. L. T. T. I. O. T. B. T. O. G., (HPCs), W. C. T. S. D. O. T. L. P. T. C. I. M. C. A. S. A. T. H. S. C. (. A. P. C., in, S. A. T. M., of, T. L., in, O. T. M., HPCs, R. T. K. T. C. I. M. P. S.-R. A. B. T. D. O., involving, S. A. T. T. F., & involving, O. T. T. F. (2016) · Journal of Exploratory Research in Pharmacology · doi:10.14218/jerp.2016.00019 · Cited by 8
IDH-Mutant Gliomas
Tateishi, K., & Yamamoto, T. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.84543 · Cited by 7
Acute Myeloid Leukemia
Fortina, P., Londin, E., Park, J. Y., & Kricka, L. J. (2017) · Methods in molecular biology · doi:10.1007/978-1-4939-7142-8 · Cited by 7
Metabolism and therapeutic response in acute myeloid leukemia with IDH1/2 mutations
Gabellier, L., Bosetta, E., Heiblig, M., & Sarry, J. (2025) · Trends in cancer · doi:10.1016/j.trecan.2025.01.011 · Cited by 6
Ivosidenib in acute myeloid leukemia
Bruzzese, A., Labanca, C., Martino, E. A., Mendicino, F., Lucia, E., Olivito, V., Neri, A., Imovilli, A., Morabito, F., Vigna, E., et al. (2023) · Expert Opinion on Pharmacotherapy · doi:10.1080/14656566.2023.2272659 · Cited by 6
Cancer Metabolism and Its Therapeutic Implications
Logsdon, W. L. C. D., & Abbruzzese, J. L. (2013) · Journal of Cell Science & Therapy · doi:10.4172/2157-7013.1000143 · Cited by 6
Molecular Minimal Residual Disease Testing in Acute Myeloid Leukemia: A Review for the Practicing Clinician
Hantel, A., Stock, W., & Kosuri, S. (2018) · Clinical Lymphoma Myeloma & Leukemia · doi:10.1016/j.clml.2018.06.017 · Cited by 6
IDH1-mutated transgenic zebrafish lines: An in-vivo model for drug screening and functional analysis
Gao, Y., de Wit, M., Struys, E. A., van der Linde, H. C. Z., Salomons, G. S., Lamfers, M. L. M., Willemsen, R., Smitt, P. A. E. S., & French, P. J. (2018) · PLoS ONE · doi:10.1371/journal.pone.0199737 · Cited by 6
Specific patterns of H3K79 methylation influence genetic interaction of oncogenes in AML
Kingsley, M. C., Xie, H. M., Chen, B.-R., Riedel, S. S., Pastuer, T., Bollig, M. K., Shank, T., Libbrecht, C., Stabler, S. P., Deshpande, A. J., et al. (2020) · Blood Advances · doi:10.1182/bloodadvances.2020001922 · Cited by 6
Mouse Models of Frequently Mutated Genes in Acute Myeloid Leukemia
Mohanty, S., & Heuser, M. (2021) · Cancers · doi:10.3390/cancers13246192 · Cited by 6
Oncogenesis induced by combined Phf6 and Idh2 mutations through increased oncometabolites and impaired DNA repair
Chen, T., Yao, C., Chen, Y., Yuan, C., Lin, C., Hsu, Y.-C., Chuang, P., Kao, C., Li, Y.-H., Hou, H., et al. (2022) · Oncogene · doi:10.1038/s41388-022-02193-1 · Cited by 7
Survival Risk Prediction Models of Gliomas Based on IDH and 1p/19q
Zou, H., Li, C., Wanggou, S., & Li, X. (2020) · Journal of Cancer · doi:10.7150/jca.43805 · Cited by 6
Mouse Models of Myeloid MalignanciesPreprint
Basheer, F., & Vassiliou, G. S. (2020) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a035535 · Cited by 6
Programmable Argonaute-mediated single-nucleotide variant sequencing of cell-free DNA for multi-cancer early detection
Guo, C., Zhang, J., Zhang, S., Moon, J., Yang, R., Guan, X., Hou, C., Pei, M., Schalper, K. T., Schreiber, D., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-66893-4 · Cited by 5
Rodent models of tumours of the central nervous system
Brandner, S. (2024) · Molecular Oncology · doi:10.1002/1878-0261.13729 · Cited by 5
Contributions of transcriptional noise to leukaemia evolution: KAT2A as a case-study
Pina, C. (2024) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2023.0052 · Cited by 6
Epigenetic-modifying agents: The potential game changers in the treatment of hematologic malignancies
Hojjatipour, T., Ajeli, M., Maali, A., & Azad, M. (2024) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2024.104498 · Cited by 5
Mechanisms of Aggressiveness in Glioblastoma: Prognostic and Potential Therapeutic Insights
Celine, S., Lourenço, T., Xavier‐Magalhães, A., Pojo, M., & Bruno, M. (2013) · InTech eBooks · doi:10.5772/52361 · Cited by 5
The Leukemic Isocitrate Dehydrogenase (IDH) 1/2 Mutations Impair Myeloid and Erythroid Cell Differentiation of Primary Human Hematopoietic Stem and Progenitor Cells (HSPCs)
Pierangeli, S., Donnini, S., Ciaurro, V., Milano, F., Cardinali, V., Sciabolacci, S., Cimino, G., Gionfriddo, I., Ranieri, R., Cipriani, S., et al. (2024) · Cancers · doi:10.3390/cancers16152675 · Cited by 4
Novel Treatments for T-Cell Lymphoma
Cheah, C. Y., Oki, Y., & Fanale, M. A. (2015) · American Society of Clinical Oncology Educational Book · doi:10.14694/edbook_am.2015.35.e468 · Cited by 4
Fighting Fire with Fire in Cancer
Berger, T., Saunders, M. E., & Mak, T. W. (2015) · Springer eBooks · doi:10.1007/978-4-431-55651-0_3 · Cited by 4
Self-citation
mIDH-associated DNA hypermethylation in acute myeloid leukemia reflects differentiation blockage rather than inhibition of TET-mediated demethylation
Wiehle, L., Raddatz, G., Pusch, S., Gutekunst, J., von Deimling, A., Rodríguez‐Paredes, M., & Lyko, F. (2017) · Cell Stress · doi:10.15698/cst2017.10.106 · Cited by 4
Epigenetic modifiers in normal and aberrent erythropoeisis
Sundaravel, S., Steidl, U. G., & Wickrema, A. (2020) · Seminars in Hematology · doi:10.1053/j.seminhematol.2020.12.005 · Cited by 4
Protocol to establish a genetically engineered mouse model of IDH1-mutant astrocytoma
Shi, D. D., Lee, J. H., Wang, A. C., Khanal, J., Gao, W., Kaelin, W. G., & McBrayer, S. K. (2023) · STAR Protocols · doi:10.1016/j.xpro.2023.102281 · Cited by 4
Application of iPS cell technology to cancer epigenome study: Uncovering the mechanism of cell status conversion for drug resistance in tumor
Matsuda, Y., Semi, K., & Yamada, Y. (2014) · Pathology International · doi:10.1111/pin.12180 · Cited by 4
Advances in the Development of Animal Models of Myeloid Leukemias
Guryanova, O. A., & Levine, R. L. (2013) · Seminars in Hematology · doi:10.1053/j.seminhematol.2013.03.027 · Cited by 4
Gene expression profiling of loss of TET2 and/or JAK2V617F mutant hematopoietic stem cells from mouse models of myeloproliferative neoplasms
Kameda, T., Shide, K., Yamaji, T., Kamiunten, A., Sekine, M., Hidaka, T., Kubuki, Y., Sashida, G., Aoyama, K., Yoshimitsu, M., et al. (2015) · Genomics Data · doi:10.1016/j.gdata.2015.04.002 · Cited by 4
Direct genetic transformation bypasses tumor-associated DNA methylation alterations
Hetzel, S., Hodis, E., Triglia, E. T., Kovacsovics, A., Steinmann, K. E., Gnirke, A., Cui, M., McQuaid, D. C., Weigert, R., Pohl, G., et al. (2025) · Genome biology · doi:10.1186/s13059-025-03650-2 · Cited by 3
Epigenetic Abnormalities in Acute Myeloid Leukemia and Leukemia Stem Cells
Xu, J., Hang, X., Wu, B., Chen, C., & Liu, Y. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-981-13-7342-8_8 · Cited by 3
Modulation of DNA/RNA Methylation Signaling Mediating Metabolic Homeostasis in Cancer
Choubey, P., Kaur, H., & Bansal, K. (2022) · Sub-cellular biochemistry/Subcellular biochemistry · doi:10.1007/978-3-031-07634-3_7 · Cited by 3
The Current Molecular Site of the Myeloproliferative Neoplasms - TET-àtête with the JAKpot but no LNK so far to Resolve Complexity
Bock, O. (2013) · Journal of Leukemia · doi:10.4172/2329-6917.1000108 · Cited by 3
DNA Methylation and Carcinogenesis: Current and Future Perspectives
Patil, V., & Herceg, Z. (2019) · Springer eBooks · doi:10.1007/978-981-13-8958-0_7 · Cited by 3
Pyruvate dehydrogenase kinase expression profile is a biomarker for cancer sensitivity to dichloroacetate-mediated growth inhibitionPreprint
Gang, B. P., Rooke, M., Sun, R. C., Banskota, S., Mishra, S., Dahlstrom, J. E., & Blackburn, A. C. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.09.18.557101 · Cited by 3
Deciphering enemy tactics – the narrow path to an optimal anti-cancer strategy targeting the Warburg effect
Kocemba‐Pilarczyk, K. A., Ostrowska, B., Trojan, S., & Dudzik, P. (2025) · Pharmacological Reports · doi:10.1007/s43440-025-00768-9 · Cited by 2
From the T-cell receptor to cancer therapy: an interview with Tak W. Mak
Mak, T. W. (2020) · Cell Death and Differentiation · doi:10.1038/s41418-020-00666-y · Cited by 2
Self-citation
Targeting the IDH1R132H mutation in gliomas by CRISPR/Cas precision base editing
Weber, R., Vasella, F., Klimko, A., Silginer, M., Lamfers, M. L. M., Neidert, M. C., Regli, L., Schwank, G., & Weller, M. (2024) · Neuro-Oncology Advances · doi:10.1093/noajnl/vdae182 · Cited by 2
Genetics of glioma
Hansen, L. J., Diplas, B. H., Becher, O. J., & Yan, H. (2016) · Cambridge University Press eBooks · doi:10.1017/cbo9781107588721.002 · Cited by 2
A Zebrafish Model for Evaluating the Function of Human Leukemic Gene IDH1 and Its Mutation
Ma, A. C. H., Shi, X. E., He, A. B.-L., Guo, Y., & Leung, A. Y. H. (2017) · Methods in molecular biology · doi:10.1007/978-1-4939-7142-8_13 · Cited by 2
Brain Tumor Stem Cells
Bayin, N. S., Modrek, A. S., & Placantonakis, D. G. (2014) · Molecular pathology library · doi:10.1007/978-1-4939-1830-0_2 · Cited by 2
Mitochondrial mass and DNA repair in breast cancer stem cells
Pestell, R. G., Fatatis, A., & Jiao, X. (2015) · Oncotarget · doi:10.18632/oncotarget.6305 · Cited by 2
Interferon-Stimulated Exonuclease Gene 20 is A Prognosis and Predictive Biomarker and Correlated with Macrophages M2 Polarization in Glioblastoma: A Pan-Cancer AnalysisPreprint
Jiang, H., Zhang, D., Liu, W., Wang, L., Aleksandrovich, K. D., Chen, X., Zhang, C., Wu, J., Yao, P., Sun, Z., et al. (2022) · Research Square · doi:10.21203/rs.3.rs-1238023/v1 · Cited by 2
Mutant IDH silences GSX2 to reprogram neural progenitor cell fate and promote gliomagenesisPreprint
Xiao, Y., Shi, D. D., Guo, L., Neumann, E., Levitt, M. M., Kaphle, P., Shipman, T. E., Li, H., Cai, F., Ramirez, D. M. O., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.08.12.667486 · Cited by 4
Clonal hematopoiesis: linking hematopoietic stem cell aging with age-related diseases
Li, Z., Zhou, Z., You, W., Xiao, F., Ju, Z., & Chen, Z. (2025) · Oral Science and Homeostatic Medicine · doi:10.26599/oshm.2025.9610016 · Cited by 1
Modern therapeutic approaches in cholangiocarcinoma: A narrative review of key biomarkers and clinical trials
Almeida, A., Manzi, J. L. L., Hoff, C., Kadri, H., Livingstone, A. S., Gleisner, A., Toegel, E. B., Schulick, R. D., Hoff, P. M., Vianna, R., et al. (2026) · Translational Oncology · doi:10.1016/j.tranon.2026.103005 · Cited by 1
Development of D2HG biosensors inspired by the molecular mechanism of D2HG regulation of DhdR
Wang, B., Luo, S., & Sun, P. (2025) · Cell chemical biology · doi:10.1016/j.chembiol.2025.10.004 · Cited by 1
Fluorinated Derivatives of AG-881 for Positron Emission Tomography Detection of Mutated Isocitrate Dehydrogenase 1
Lai, T. H., Dukic-Stefanovic, S., Deuther‐Conrad, W., Maisonial‐Besset, A., Teodoro, R., Toussaint, M., & Wenzel, B. (2026) · Pharmaceuticals · doi:10.3390/ph19050660 · Cited by 1
Vorasidenib improves response to subsequent chemoradiation in a genetically engineered mouse model of IDH-mutant glioma
Shi, D. D., Fernández, E. C., Puliyappadamba, V. T., Lanman, T. A., Xiao, Y., Wen, Z., Minor, M., Prost, D. M., Lasica, A. B., Cai, F., et al. (2026) · Science Translational Medicine · doi:10.1126/scitranslmed.aee5876 · Cited by 1
Stromal cell senescence augments haematopoietic cell fitness in clonal haematopoiesis
Mistry, J. J., Young, K. A., Figueredo, A. N., Edun, G., Aguilar-Navarro, A. G., Díaz, P. A. C., Telpoukhovskaia, M. A., Fernández-Maestre, I., Cai, S. F., Götze, K. S. S., et al. (2026) · Nature Cell Biology · doi:10.1038/s41556-026-02025-4 · Cited by 3
Metabolic Enzymes: The Novel Targets for Cancer Stem Cells
Li, J. L. P. (2014) · Journal of Stem Cell Research & Therapy · doi:10.4172/2157-7633.1000197 · Cited by 1
[Aberrant DNA methylation and its targeted therapy in acute myeloid leukemia].
Li, X., Zhu, L., & Ye, X. (2016) · PubMed Central · doi:10.3785/j.issn.1008-9292.2016.07.09 · Cited by 1
Overlapping Stromal Alterations in Myeloid and Lymphoid Neoplasms
Bogun, L., Koch, A., Scherer, B., Germing, U., Fenk, R. R., Maus, U. M., Bormann, F., Köhrer, K., Petzsch, P., Wachtmeister, T., et al. (2024) · Cancers · doi:10.3390/cancers16112071 · Cited by 1
Advances and insights in cancer metabolism and epigenetic reprogramming
Zeng, Y., Wang, P., & Ye, D. (2025) · Chinese Science Bulletin (Chinese Version) · doi:10.1360/tb-2024-1379 · Cited by 1
Targeted Therapy of IDH1-Mutated Tumors
Clark, O., & Grommes, C. (2016) · Springer eBooks · doi:10.1007/978-3-319-49864-5_10 · Cited by 1
Tumor-Specific Mutations in Gliomas and Their Implications for Immunotherapy
Pirozzi, C. J., Carpenter, A. B., Hennika, T., Becher, O. J., & Yan, H. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-802420-1.00005-3 · Cited by 1
Fish provide ID(H)eas on targeting leukemia
Trompouki, E. (2015) · Blood · doi:10.1182/blood-2015-03-636225 · Cited by 1
Basics of Brain Tumor Biology for Clinicians
Wirsching, H., & Weller, M. (2019) · Springer eBooks · doi:10.1007/978-3-319-95684-8_2 · Cited by 1
Epigenetic basis for the oncogenic potential of IDH mutations
Lü, C. (2013)
MOLECULAR SUBCLASSIFICATION, STEM CELL MARKERS AND GROWTH REGULATORY PATHWAYS IN GLIOMAS
Olausson, K. H. (2015) · Figshare
Identification of idh1 mutation-related gene signature of glioblastoma multiforme
Zhou, Z. (2014) · Tampere University Institutional Repository (Tampere University)
[Isocitrate dehydrogenase mutation in acute myeloid leukemia].
Zhang, Y., & Yang, L. (2015) · PubMed Central · doi:10.3760/cma.j.issn.0253-2727.2015.01.023
Molecular genetics of the myeloproliferative neoplasms
Beer, P. A. (2016) · Wiley eBooks · doi:10.1002/9781118527948.ch2
Oxidative Stress and Cancer Epigenomics
Hussong, M., & Schweiger, M. R. (2016) · Epigenetics and human health · doi:10.1007/978-3-319-27186-6_11
Altered Chromatin Signaling in Cancer
Liss, A. S. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-802389-1.00018-6
DNA and Histone Methylation in Hematopoietic Malignancy
Kawabata, K. C., & Kitamura, T. (2017) · Cancer drug discovery and develogment/Cancer drug discovery and development · doi:10.1007/978-3-319-59786-7_14
Novel Biomarkers in Cholangiocarcinoma
Duda, D. G., Aoki, S., Dima, S., Popescu, I., & Borad, M. J. (2018) · Surgery Gastroenterology and Oncology · doi:10.21614/sgo-23-4-259
Tumorigenesis and Metabolism Disorder
Yang, F., Shu, L., & Zhang, X. (2019) · Springer eBooks · doi:10.1007/978-981-13-6198-2_7
Author response: Registered report: IDH mutation impairs histone demethylation and results in a block to cell differentiation
Richarson, A. D., Scott, D. A., Zagnitko, O. P., Aza‐Blanc, P., Chang, C., Russler‐Germain, D. A., & Reproducibility Project: Cancer Biology (2016) · eLife · doi:10.7554/elife.10860.003
The Role of JAK2 in Myeloproliferative Neoplasms
Lally, J. (2017) · Lincoln Repository (University of Lincoln) · doi:10.24385/lincoln.24326068
Unraveling clonal heterogeneity in acute myeloid leukemia
de Boer, B. (2020) · University of Groningen research database (University of Groningen / Centre for Information Technology) · doi:10.33612/diss.113125010
A twenty-year-old woman with hemoptysis.
Darazam, I. A., Fakharian, A., Shadmehr, M. B., Dorudinia, A., & Mansouri, D. (2011) · Europe PMC (PubMed Central)
IDH1-Mutant Leukemias Impair DNA Damage Repair Due to TET2-Independent Downregulation of ATM
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Vashistha, V., Bhardwaj, S., Kumar, A., Yadav, A. K., Yadav, B. K., & Yadav, A. K. (2021) · GLOBAL JOURNAL FOR RESEARCH ANALYSIS · doi:10.36106/gjra/5409277
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Kubicek, S., Schirghuber, E., Klepsch, F., Colinge, J., & Kubicek, S. (2012) · Wiener klinisches Magazin · doi:10.1007/s00740-012-0059-2
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Maru, Y. (2016) · Springer eBooks · doi:10.1007/978-4-431-56024-1_10
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Maru, Y. (2021) · Springer eBooks · doi:10.1007/978-981-16-1757-7_10
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El‐Deiry, W. S., & van den Heuvel, P. (2012) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.717957017.793462921
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Baylin, S. B. (2022) · Wiley eBooks · doi:10.1002/9781119000822.hfcm006.pub2
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Negi, V., & Aplan, P. D. (2022) · Oncoscience · doi:10.18632/oncoscience.567
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Liu, A. C. H., Cathelin, S., Yang, Y., Dai, D. L., Ayyathan, D. M., Hosseini, M., Minden, M. D., Tierens, A. M., & Chan, S. M. (2023) · doi:10.1158/0008-5472.c.6514302.v1
Data from Mutant Idh2 Cooperates with a NUP98-HOXD13 Fusion to Induce Early Immature Thymocyte Precursor ALL
Goldberg, L., Negi, V., Chung, Y. J., Onozawa, M., Zhu, Y. J., Walker, R. L., Pierce, R. M., Patel, D. P., Krausz, K. W., Gonzalez, F. J., et al. (2023) · doi:10.1158/0008-5472.c.6513534
Data file S1 from Targeting STAT5 Signaling Overcomes Resistance to IDH Inhibitors in Acute Myeloid Leukemia through Suppression of Stemness
Liu, A. C. H., Cathelin, S., Yang, Y., Dai, D. L., Ayyathan, D. M., Hosseini, M., Minden, M. D., Tierens, A. M., & Chan, S. M. (2023) · doi:10.1158/0008-5472.22433115.v1
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Asmar, F., Gillberg, L., & Grønbæk, K. (2023) · Elsevier eBooks · doi:10.1016/b978-0-323-91367-6.00020-9
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戚, 栋. (2023) · Advances in Clinical Medicine · doi:10.12677/acm.2023.1361289
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Herman, J. G., & Baylin, S. B. (2017) · Wiley eBooks · doi:10.1002/9781119000822.hfcm006
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Gültekin, Y., Heiden, M. G. V., & Lien, E. C. (2023) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a041420
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Gabellier, L., Bosetta, E., Heiblig, M., & Sarry, J. (2025) · médecine/sciences · doi:10.1051/medsci/2025045
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Kraus, T. F. J., Alinger-Scharinger, B., Langwieder, C. K., Mol, A., Aleksic, T., van Merkestijn, B., Schlicker, H. U., Spendel, M., Pöppe, J. P., Schwartz, C., et al. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26199639 · Cited by 1
Molecular markers of gliomas : implications for diagnosis and new target therapies
Stefano, A. L. D. (2017) · theses.fr (ABES) · doi:10.70675/de3bc517z8083z4bf5za1b4z9c09b5970230
Conséquences cliniques et moléculaires de la marque H3K27 me3 HIST1 dans les leucémies aigües myéloïdes sans anomalies cytogénétiques
Garciaz, S. (2018) · theses.fr (ABES) · doi:10.70675/f6bba160z544fz48b5zbb51zb5982923ed7a
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Hamie, M. (2019) · theses.fr (ABES) · doi:10.70675/b72379f2zcf9fz414dz9c9fzc0810b02d5e3
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Zylbersztejn, F. (2018) · theses.fr (ABES) · doi:10.70675/aba274ccz1a31z431dz9327z34d072542152
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Dagher, T. (2021) · theses.fr (ABES) · doi:10.70675/70385a66zf181z4e65z9833z84f2ea720612

Authors: Sasaki, M., Knobbe, C. B., Munger, J. C., Lind, E. F., Brenner, D., Brüstle, A., Harris, I. S., Holmes, R., Wakeham, A., Haight, J., You-Ten, A., Li, W. Y., Schalm, S., Su, S. M., Virtanen, C., Reifenberger, G., Ohashi, P. S., Barber, D. L., Figueroa, M. E., Melnick, A., Zúñiga-Pflücker, J.-C., & Mak, T. W.
Affiliations: University Health Network (CA)
University of Rochester Medicine (US)
University of Toronto (CA)
Agios Pharmaceuticals (United States) (US)
Heinrich Heine University Düsseldorf (DE)
Cornell University (US)
Corresponding author: Mak, Tak W.
ORCID: Sasaki, Masato
Munger, Joshua C.
Lind, Evan F.
Brenner, Dirk
Harris, Isaac S.
Holmes, Roxanne
Haight, Jillian
Li, Wanda Y.
Schalm, Stefanie
Virtanen, Carl
Reifenberger, Guido
Ohashi, Pamela S.
Barber, Dwayne L.
Melnick, Ari
Mak, Tak W.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2012-07-04
Volume: 488
Issue: 7413
Pages: 656-659
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature11323
PMC: PMC4005896
OpenAlex: W2035409103
Cited by: 513
References: 34
Citations by year: 2026: 5 · 2025: 20 · 2024: 16 · 2023: 27 · 2022: 26 · 2021: 31 · 2020: 28 · 2019: 34 · 2018: 33 · 2017: 44 · 2016: 55 · 2015: 55 · 2014: 53 · 2013: 64 · 2012: 21
FWCI: 41.37
Type: journal article
Language: en
Open access: green
europepmc.org
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
RePEc: Research Papers in Economics (submittedVersion)
ANU Open Research (Australian National University) (submittedVersion)
Funders: Canadian Institutes of Health Research
National Institute of Allergy and Infectious Diseases (R56AI081773, R01AI081773)
Topics: Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
Health Sciences › Medicine › Oncology › Glioma Diagnosis and Treatment
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer, Hypoxia, and Metabolism
Keywords: IDH1 R132H mutation, isocitrate dehydrogenase, 2-hydroxyglutarate, acute myeloid leukemia, hematopoietic progenitor cells, epigenetics, DNA methylation, histone methylation, conditional knock-in mice, extramedullary hematopoiesis, splenomegaly, anemia
MeSH terms: Aging, Animals, Bone Marrow, Disease Models, Animal, Female, Glioma, Hematopoiesis, Hematopoietic Stem Cells, Histones, Humans, Isocitrate Dehydrogenase, Male, Mutation, Spleen, Leukemia, Myeloid, Acute, CpG Islands, Cell Lineage, DNA Methylation, Myeloid Cells, Epigenesis, Genetic, Mutant Proteins, Mice, Gene Knock-In Techniques

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IDH1(R132H) mutation increases murine haematopoietic progenitors and alters epigenetics

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