ArticleCancer cell2015
Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms.
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Article in Cancer cell, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 244 papers, 3 of them syntheses that pooled it.
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244citing papers in PubMed, 3 pooled it
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244 citing papers in PubMed, 3 syntheses or guidelines pooled it, 430 citations in OpenAlex.
- Clinicopathological and prognostic significance of DDX41 mutation in myeloid neoplasms: a systematic review and meta-analysis.Annals of hematology · 2025Pooled it
- Contemporary Approach to the Diagnosis and Classification of Myelodysplastic Neoplasms/Syndromes-Recommendations From the International Consortium for Myelodysplastic Neoplasms/Syndromes (MDS [icMDS]).Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2024Guideline
- Mass spectrometry-based proteomics of cerebrospinal fluid in pediatric central nervous system malignancies: a systematic review with meta-analysis of individual patient data.Fluids and barriers of the CNS · 2024Pooled it
- CPX-351 selectively benefits patients with AML and myelodysplasia-related mutations in the pivotal randomized trial.Blood advances · 2026Trial
- ConstitutionalHaematologica · 2018Trial
- Bone marrow failure syndromes across the age spectrum: diagnostic and therapeutic principles.EClinicalMedicine · 2026Review
- Article
- Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026Review
- [Germline DDX41 mutations and myelodysplastic neoplasms].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2026Review
- Exposure to Agent Orange and association with myelodysplastic syndromes.Blood advances · 2026Article
- Germline DDX41 mutations in myeloid neoplasms: a comprehensive review.The Korean journal of internal medicine · 2026Review
- Leveraging paired germline and somatic analysis to improve the classification of DDX41 variants.British journal of haematology · 2026Article
- Clinical decisions in clonal hematopoiesis: a contemporary review for clinicians.Haematologica · 2026Review
- Germline DDX41 Variants: Current Understanding and Future Directions.Current hematologic malignancy reports · 2026Review
- Case report: Dynamic genetic profiles reveal a patient with myelodysplastic neoplasm transforming into acute myeloid leukemia.Discover oncology · 2026Article
- Regulation of RNA-binding proteins by small biomolecules.Nature reviews. Molecular cell biology · 2026Review
- MDS/AML-associated DDX41 helicase facilitates homologous recombination repair by potentially resolving R-loops.Nucleic acids research · 2026Article
- Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.Cancers · 2026Review
- A patient with myelodysplastic/myeloproliferative neoplasm with neutrophilia (MDS/MPN-N) harboring aFrontiers in oncology · 2026Article
- Splicing as an integrative layer linking cell cycle regulation, epigenetic dynamics, and environmental responses in plants.Frontiers in plant science · 2026Review
184 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
36 authors at 12 institutions in 4 countries.
Chantana PolprasertDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA; Department of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
Isabell SchulzeDepartment of Hematology and Oncology, University of Halle, Halle 06108, Germany; Department of Hematology and Oncology, University of Muenster, Muenster 48149, Germany.
Mikkael A SekeresDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA; Leukemia Program, Cleveland Clinic, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Hideki MakishimaDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Bartlomiej PrzychodzenDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Naoko HosonoDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA; First Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, Fukui 910-8507, Japan.
Jarnail SinghDepartment of Molecular Genetics, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
Richard A PadgettDepartment of Molecular Genetics, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
Xiaorong GuDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
James G PhillipsDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Michael ClementeDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Yvonne ParkerDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Daniel LindnerDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Brittney DienesDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Eckhard JankowskyDepartment of Biochemistry, Case Western Reserve University, Cleveland, OH 44106, USA.
Yogen SaunthararajahDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Yang DuDepartment of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.
Kevin OakleyDepartment of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.
Nhu NguyenDepartment of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.
Sudipto MukherjeeLeukemia Program, Cleveland Clinic, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Caroline PabstDepartment of Hematology and Oncology, University of Halle, Halle 06108, Germany.
Lucy A GodleyDepartment of Medicine, Comprehensive Cancer Center and Center for Clinical Cancer Genetics, University of Chicago, Chicago, IL 60637, USA.
Jane E ChurpekDepartment of Medicine, Comprehensive Cancer Center and Center for Clinical Cancer Genetics, University of Chicago, Chicago, IL 60637, USA.
Daniel A PollyeaUniversity of Colorado School of Medicine and University of Colorado Cancer Center, Aurora, CO 80045, USA.
Utz KrugDepartment of Hematology and Oncology, University of Muenster, Muenster 48149, Germany.
Wolfgang E BerdelDepartment of Hematology and Oncology, University of Muenster, Muenster 48149, Germany.
Hans-Ulrich KleinInstitute of Medical Informatics, University of Muenster, Muenster 48149, Germany.
Martin DugasInstitute of Medical Informatics, University of Muenster, Muenster 48149, Germany.
Yuichi ShiraishiHuman Genome Center, Institute of Medical Science, University of Tokyo, Tokyo 113-8654, Japan.
Kenichi ChibaHuman Genome Center, Institute of Medical Science, University of Tokyo, Tokyo 113-8654, Japan.
Hiroko TanakaHuman Genome Center, Institute of Medical Science, University of Tokyo, Tokyo 113-8654, Japan.
Satoru MiyanoHuman Genome Center, Institute of Medical Science, University of Tokyo, Tokyo 113-8654, Japan.
Kenichi YoshidaDepartment of Pathology and Tumor Biology, Kyoto University, Kyoto 606-8501, Japan.
Seishi OgawaDepartment of Pathology and Tumor Biology, Kyoto University, Kyoto 606-8501, Japan.
Carsten Müller-TidowDepartment of Hematology and Oncology, University of Halle, Halle 06108, Germany; Department of Hematology and Oncology, University of Muenster, Muenster 48149, Germany. Electronic address: carsten.mueller-tidow@uk-halle.de.
Jaroslaw P MaciejewskiDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA; Leukemia Program, Cleveland Clinic, Taussig Cancer Institute, Cleveland, OH 44195, USA. Electronic address: maciejj@ccf.org.
University of Münster · DETokyo University of Science · JPCleveland Clinic · USUniformed Services University of the Health Sciences · USCleveland Clinic Lerner College of Medicine · USKyoto University · JPCancer Genetics (United States) · USCase Western Reserve University · USChulalongkorn University · THUniversity of Chicago · USUniversity of Colorado Denver · USUniversity of Fukui · JP
Funding
Investigations of Consequences of U2AF1 Mutations in MDSR01HL118281 · NHLBI · CLEVELAND CLINIC LERNER COM-CWRU · PI MACIEJEWSKI, JAROSLAW P., PADGETT, RICHARD A · 2013 to 2017
$1.9MRole of Setbp1 in leukemic stem cell self-renewalR01CA143193 · NCI · HENRY M. JACKSON FDN FOR THE ADV MIL/MED · PI DU, YANG · 2010 to 2014
$1.5MTraining/Research Center-Bone Marrow Failure SyndromesK24HL077522 · NHLBI · CLEVELAND CLINIC LERNER COM-CWRU · PI MACIEJEWSKI, JAROSLAW P. · 2005 to 2014
$1.2MNCI NIH HHS R01 CA143193NCI NIH HHS R01CA143193NHLBI NIH HHS 2K24HL077522NHLBI NIH HHS K24 HL077522NHLBI NIH HHS R01 HL118281NHLBI NIH HHS R01HL118281
Abstract
Most cases of adult myeloid neoplasms are routinely assumed to be sporadic. Here, we describe an adult familial acute myeloid leukemia (AML) syndrome caused by germline mutations in the DEAD/H-box helicase gene DDX41. DDX41 was also found to be affected by somatic mutations in sporadic cases of myeloid neoplasms as well as in a biallelic fashion in 50% of patients with germline DDX41 mutations. Moreover, corresponding deletions on 5q35.3 present in 6% of cases led to haploinsufficient DDX41 expression. DDX41 lesions caused altered pre-mRNA splicing and RNA processing. DDX41 is exemplary of other RNA helicase genes also affected by somatic mutations, suggesting that they constitute a family of tumor suppressor genes.
Indexed as
Germ-Line MutationAgedAged, 80 and overAmino Acid SequenceAnimalsDEAD-box RNA HelicasesFemaleHumansLeukemia, Myeloid, AcuteMaleMiddle AgedMolecular Sequence DataPedigreeRNA SplicingSequence Homology, Amino AcidDDX41 protein, humanDEAD-box RNA Helicases
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