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Cytogenetics analysis as the central point of genetic testing in acute myeloid leukemia (AML): a laboratory perspective for clinical applications

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  1. Article

    Open Access

    Targeting the innate immune system in pediatric and adult AML

    While the introduction of T cell-based immunotherapies has improved outcomes in many cancer types, the development of immunotherapies for both adult and pediatric AML has been relatively slow and limited. In a...

    Alicia Perzolli, Joost B. Koedijk, C. Michel Zwaan, Olaf Heidenreich in Leukemia (2024)

  2. Article

    Open Access

    Combination p53 activation and BCL-xL/BCL-2 inhibition as a therapeutic strategy in high-risk and relapsed acute lymphoblastic leukemia

    Due to the rarity of TP53 mutations in acute lymphoblastic leukemia (ALL), p53 re-activation by antagonism of the p53-MDM2 interaction represents a potential therapeutic strategy for the majority of ALL. Here, we...

    Hayden L. Bell, Helen J. Blair, Samantha J. Jepson Gosling, Martin Galler in Leukemia (2024)

  3. Article

    Open Access

    Fusion transcripts are present in early progenitor cells in KMT2A-rearranged B-ALL

    Ricky Tirtakusuma, Paul Milne, Helen J. Blair, Yuzhe Shi, Simon Bomken in Leukemia (2024)

  4. Article

    Open Access

    Leukemic stem cells activate lineage inappropriate signalling pathways to promote their growth

    Acute Myeloid Leukemia (AML) is caused by multiple mutations which dysregulate growth and differentiation of myeloid cells. Cells adopt different gene regulatory networks specific to individual mutations, main...

    Sophie G. Kellaway, Sandeep Potluri, Peter Keane, Helen J. Blair in Nature Communications (2024)

  5. Article

    Open Access

    Targeting WEE1 kinase as a p53-independent therapeutic strategy in high-risk and relapsed acute lymphoblastic leukemia

    Outcomes for patients with relapsed acute lymphoblastic leukemia (ALL) are poor and there is a need for novel therapies to improve outcomes. Targeted inhibition of WEE1 with small-molecule inhibitor adavoserti...

    Hayden L. Bell, Helen J. Blair, Mankaran Singh in Cancer Cell International (2023)

  6. Article

    Open Access

    Nanoparticle-mediated targeting of the fusion gene RUNX1/ETO in t(8;21)-positive acute myeloid leukaemia

    A hallmark of acute myeloid leukaemias (AMLs) are chromosomal rearrangements that give rise to novel leukaemia-specific fusion genes. Most of these fusion genes are both initiating and driving events in AML an...

    Hasan Issa, Laura E. Swart, Milad Rasouli, Minoo Ashtiani, Sirintra Nakjang in Leukemia (2023)

  7. Article

    Open Access

    Disruption to the FOXO-PRDM1 axis resulting from deletions of chromosome 6 in acute lymphoblastic leukaemia

    A common problem in the study of human malignancy is the elucidation of cancer driver mechanisms associated with recurrent deletion of regions containing multiple genes. Taking B-cell acute lymphoblastic leuka...

    Paul B. Sinclair, Ruth E. Cranston, Prahlad Raninga, Joanna Cheng in Leukemia (2023)

  8. Article

    Open Access

    Single-cell transcriptomics reveals a distinct developmental state of KMT2A-rearranged infant B-cell acute lymphoblastic leukemia

    KMT2A-rearranged infant ALL is an aggressive childhood leukemia with poor prognosis. Here, we investigated the developmental state of KMT2A-rearranged infant B-cell acute lymphoblastic leukemia (B-ALL) using bulk...

    Eleonora Khabirova, Laura Jardine, Tim H. H. Coorens, Simone Webb in Nature Medicine (2022)

  9. Article

    Open Access

    SMARCA5 interacts with NUP98-NSD1 oncofusion protein and sustains hematopoietic cells transformation

    Acute myeloid leukemia (AML) is characterized by accumulation of aberrantly differentiated hematopoietic myeloid progenitor cells. The karyoty**-silent NUP98-NSD1 fusion is a molecular hallmark of pediatric ...

    Zivo** Jevtic, Vittoria Matafora in Journal of Experimental & Clinical Cancer … (2022)

  10. Article

    Open Access

    Author Correction: Genome-wide association study identifies susceptibility loci for acute myeloid leukemia

    Wei-Yu Lin, Sarah E. Fordham, Eric Hungate, Nicola J. Sunter in Nature Communications (2022)

  11. Article

    Open Access

    Genome-wide association study identifies susceptibility loci for acute myeloid leukemia

    Acute myeloid leukemia (AML) is a hematological malignancy with an undefined heritable risk. Here we perform a meta-analysis of three genome-wide association studies, with replication in a fourth study, incorp...

    Wei-Yu Lin, Sarah E. Fordham, Eric Hungate, Nicola J. Sunter in Nature Communications (2021)

  12. Article

    Open Access

    RUNX1/RUNX1T1 mediates alternative splicing and reorganises the transcriptional landscape in leukemia

    The fusion oncogene RUNX1/RUNX1T1 encodes an aberrant transcription factor, which plays a key role in the initiation and maintenance of acute myeloid leukemia. Here we show that the RUNX1/RUNX1T1 oncogene is a re...

    Vasily V. Grinev, Farnaz Barneh, Ilya M. Ilyushonak in Nature Communications (2021)

  13. Article

    Open Access

    H3K79me2/3 controls enhancer–promoter interactions and activation of the pan-cancer stem cell marker PROM1/CD133 in MLL-AF4 leukemia cells

    MLL gene rearrangements (MLLr) are a common cause of aggressive, incurable acute lymphoblastic leukemias (ALL) in infants and children, most of which originate in utero. The most common MLLr produces an MLL-AF...

    Laura Godfrey, Nicholas T. Crump, Sorcha O’Byrne, I-Jun Lau, Siobhan Rice in Leukemia (2021)

  14. Article

    Open Access

    Optimized induction of mitochondrial apoptosis for chemotherapy-free treatment of BCR-ABL+acute lymphoblastic leukemia

    BCR-ABL+acute lymphoblastic leukemia (ALL) in adults has a poor prognosis with allogeneic stem cell transplantation (SCT) considered the best curative option for suitable patients. We here characterize the cur...

    Michaela Scherr, Hanna Kirchhoff, Karin Battmer, Katharina Wohlan, Chun-Wei Lee in Leukemia (2019)

  15. Article

    Open Access

    siRNAs targeting the ERK2 signaling pathway and AML1/MTG8 fusion gene attenuate the differentiation, proliferation and growth arrest in t(8;21) leukemia

    Salem Bashanfer, Faisal Mutee Al-Hassan, Rosline Hassan in BMC Proceedings (2012)

  16. Article

    Targeting leukemic fusion proteins with small interfering RNAs: recent advances and therapeutic potentials

    RNA interference has become an indispensable research tool to study gene functions in a wide variety of organisms. Because of their high efficacy and specificity, RNA interference-based approaches may also tra...

    Maria Thomas, Johann Greil, Olaf Heidenreich in Acta Pharmacologica Sinica (2006)

  17. Article

    Open Access

    The oncogenic fusion protein RUNX1-CBFA2T1 supports proliferation and inhibits senescence in t(8;21)-positive leukaemic cells

    The fusion protein RUNX1-CBFA2T1 associated with t(8;21)-positive acute myeloid leukaemia is a potent inhibitor of haematopoetic differentiation. The role of RUNX1-CBFA2T1 in leukaemic cell proliferation is le...

    Natalia Martinez, Bettina Drescher, Heidemarie Riehle, Claire Cullmann in BMC Cancer (2004)