ArticleBlood2016
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
Article in Blood, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 124 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
124 citing papers in PubMed, 1 synthesis or guideline pooled it, 217 citations in OpenAlex.
- 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
- Trial
- Bone marrow failure syndromes across the age spectrum: diagnostic and therapeutic principles.EClinicalMedicine · 2026Review
- Leveraging paired germline and somatic analysis to improve the classification of DDX41 variants.British journal of haematology · 2026Article
- Germline DDX41 Variants: Current Understanding and Future Directions.Current hematologic malignancy reports · 2026Review
- Refinement of the classification of DDX41 variants through analysis of aggregated clinical datasets.Leukemia · 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
- Clinical and Molecular Spectrum ofJournal of clinical medicine · 2025Article
- Targeting pattern recognition receptors for cancer therapy: Mechanisms and strategies.Acta pharmaceutica Sinica. B · 2025Review
- Myeloid neoplasms risks for germline DDX41 pathogenic variants carriers.European journal of human genetics : EJHG · 2025Article
- Identifying lncRNA-Protein Interactions in Hematopoietic Progenitor Cells by Hybridization Capture and Mass Spectrometry.Journal of proteome research · 2025Article
- Overall cancer risk in people with deleterious germlineHaematologica · 2025Article
- A novel PML germline variant as a candidate predisposing genetic aberration in familial acute myeloid leukaemia.British journal of haematology · 2025Article
- DDX41 resolves G-quadruplexes to maintain erythroid genome integrity and prevent cGAS-mediated cell death.Nature communications · 2025Article
- Small Nucleolar RNAs: Biological Functions and Diseases.MedComm · 2025Review
- Germline DDX41 mutations in myeloid neoplasms: the current clinical and molecular understanding.Current opinion in hematology · 2025Review
- Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.Human genetics · 2024Article
64 more citing papers are in PubMed but not listed here.
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Authors and funding
30 authors at 8 institutions in 2 countries.
Funding
Abstract
Recently our group and others have identified DDX41 mutations both as germ line and acquired somatic mutations in families with multiple cases of late onset myelodysplastic syndrome (MDS) and/or acute myeloid leukemia (AML), suggesting that DDX41 acts as a tumor suppressor. To determine whether novel DDX41 mutations could be identified in families with additional types of hematologic malignancies, our group screened two cohorts of families with a diverse range of hematologic malignancy subtypes. Among 289 families, we identified nine (3%) with DDX41 mutations. As previously observed, MDS and AML were the most common malignancies, often of the erythroblastic subtype, and 1 family displayed early-onset follicular lymphoma. Five novel mutations were identified, including missense mutations within important functional domains and start-loss and splicing mutations predicted to result in truncated proteins. We also show that most asymptomatic mutation carriers have normal blood counts until malignancy develops. This study expands both the mutation and phenotypic spectra observed in families with germ line DDX41 mutations. With an increasing number of both inherited and acquired mutations in this gene being identified, further study of how DDX41 disruption leads to hematologic malignancies is critical.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.