CRISPR screening reveals that RNA helicase DDX41 triggers ribosome biogenesis and cancer progression through R-loop-mediated RPL/RPS transcription
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DOI: 10.1038/s41467-025-62743-5
Abstract: The RNA helicase DDX41 is a DEAD-box helicase that is well known as a virus sensor in dendritic cells and a tumor suppressor that is frequently mutated in myeloid neoplasms. However, the functions and relevance… read more here.
Keywords: cancer; helicase; ribosome biogenesis; ddx41 ... See more keywords
Clinical and Pathologic Spectrum of DDX41-Mutated Hematolymphoid Neoplasms.
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DOI: 10.1093/ajcp/aqab027
Abstract: OBJECTIVES This study seeks to further characterize the clinicopathologic spectrum of DDX41-mutated hematolymphoid malignancies. METHODS We identified DDX41 mutations from a cohort of known or suspected hematologic disorders and reviewed the corresponding clinical, genetic, phenotypic,… read more here.
Keywords: mutated hematolymphoid; ddx41 mutated; ddx41; case ... See more keywords
Abstract 5164: Deleterious germline DDX41 variants drive solid tumors in conjunction with second cancer risk alleles and a pro-inflammatory environment
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DOI: 10.1158/1538-7445.am2025-5164
Abstract: The presence of solid tumors in those with deleterious germline DDX41 variants in addition to the expected myeloid malignancies suggests that these alleles could contribute to solid tumor development. To test if DDX41 cancer risk… read more here.
Keywords: cancer; solid tumors; ddx41; ddx41 variants ... See more keywords
High-Throughput Screening to Identify Inhibitors of DEAD Box Helicase DDX41
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DOI: 10.1177/2472555217705952
Abstract: The human DEAD (Asp–Glu–Ala–Asp) box protein DDX41, a member of the DEXDc helicase family, has nucleic acid–dependent ATPase and RNA and DNA translocase and unwinding activities. DDX41 is affected by somatic mutations in sporadic cases… read more here.
Keywords: r525h; ddx41; high throughput; helicase ... See more keywords
Excessive R-Loops Trigger an Inflammatory Cascade Leading to Aberrant Hematopoietic Stem and Progenitor Cell Expansion
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DOI: 10.1182/blood-2019-124888
Abstract: Mutations in DEAD-box Helicase 41 (DDX41) are observed in patients with myelodysplastic syndromes (MDS) with inferior overall survival, implicating this factor in disease pathogenesis. DDX41 is an understudied factor with links to inflammation and RNA… read more here.
Keywords: expansion; ddx41; gfp; stem progenitor ... See more keywords
Bi-Allelic DDX41 Mutations Exert Stage Specific Effects on Hematopoiesis to Promote Disease
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DOI: 10.1182/blood-2024-209425
Abstract: Germline mutations in DEAD-box helicase 41 (DDX41) are the most common heritable predisposition to myeloid malignancies, accounting for ~4% of acute myeloid leukemia (AML) and the myelodysplastic syndromes (MDS). In 50% of cases that progress… read more here.
Keywords: disease; ddx41 mutant; ddx41; seq ... See more keywords
Allogeneic Haematopoietic Stem Cell Transplantation Is Safe and Effective for Myeloid Neoplasms with Germline DDX41 Mutation
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DOI: 10.1182/blood-2024-209669
Abstract: Aim: Germline DDX41 mutations define specific myeloid neoplasm subtypes including AML and MDS. Whilst DDX41-mutated patients often undergo allogeneic haematopoietic stem cell transplant (HSCT), recent retrospective analyses have reported higher severe acute and chronic graft… read more here.
Keywords: stem cell; ddx41; germline ddx41; hsct ... See more keywords
DDX41-related myeloid neoplasms: Insights and treatment landscape in 250 patients managed at a large tertiary centre
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DOI: 10.1182/blood-2025-5262
Abstract: Background Germline DDX41 mutations are the most common genetic predisposition to myeloid neoplasms, representing a distinct subtype associated with favorable outcomes, although evidence highlighting the prognostic relevance of second somatic hits, particularly p.Arg525His, is emerging.… read more here.
Keywords: biallelic acquired; treatment; response; ddx41 ... See more keywords
Hematologic neoplasms with germline DDX41 variants: Experience from nine spanish centers.
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DOI: 10.1182/blood-2025-6744
Abstract: Introduction: Neoplasms with germline variants in DDX41 constitute the most frequent hematologic neoplasm (HN) with a germline predisposition. Their clinical peculiarity and the region-specific distribution of variants necessitate a systematic description within distinct geographic contexts.… read more here.
Keywords: germline; history; ddx41; ddx41 variants ... See more keywords
Identifying individuals with DDX41 germline predisposition syndrome
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DOI: 10.1182/blood-2025-6745
Abstract: Background: Deleterious DDX41 germ line variants cause a predisposition syndrome (DDX41-GPS) that increases the risk of myeloid neoplasms (MNs), particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), with a penetrance of roughly 50% by… read more here.
Keywords: germ line; ddx41 gps; individuals ddx41; ddx41 ... See more keywords
DDX41-R525H mutation promotes dysplastic hematopoiesis via aberrant splicing of key regulators of HSC biology
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DOI: 10.1182/blood-2025-677
Abstract: Germline mutations in the RNA helicase DDX41 are the most common genetic predisposition to myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), representing 5-7% of AML. Over 70% of patients acquire a somatic mutation at… read more here.
Keywords: hematopoiesis; biology; ddx41; mutation ... See more keywords