Associated Papers
Refinement of the classification of DDX41 variants through analysis of aggregated clinical datasets.
Tiong IS et al.
Leukemia, 2026
Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.
Mars Z et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.
Elbaz Younes I et al.
Cancers, 2026
The dynamic alterations of DDX41 mutations in patients with myelodysplastic neoplasms treated with lenalidomide.
Liu J et al.
Leukemia & Lymphoma, 2025
Clinical and Molecular Spectrum of DDX41 Variants in Korean Patients with Hematologic Malignancies.
Kim B et al.
Journal of Clinical Medicine, 2025
Oncogenic DEAD-box ATPase DDX41 establishes transcript ensembles via CLK3-dependent and -independent mechanisms.
Kim JA et al.
Nature Communications, 2025
Expanding the phenotypic spectrum of DDX41-related myeloid neoplasms: a case of mature plasmacytoid dendritic cell proliferation associated with acute myeloid leukemia with germline DDX41 mutation.
Li THS et al.
Leukemia & Lymphoma, 2025
Applicability of current prognostication models for MDS patients with DDX41 mutation.
Toumeh N et al.
Leukemia Research, 2025
Genomic variation in DDX41 identified through clinical sequencing.
Wells C et al.
British Journal of Haematology, 2025
Overall cancer risk in people with deleterious germline DDX41 variants.
Korotev SC et al.
Haematologica, 2025
DDX41 resolves G-quadruplexes to maintain erythroid genome integrity and prevent cGAS-mediated cell death.
Bi H et al.
Nature Communications, 2025
A Novel Germline DDX41 Truncating Variant c.24del (p.Lys9Serfs*71): Deleterious Transfer During Related Allogeneic Hematopoietic Stem Cell Transplantation.
Yi J et al.
International Journal of Laboratory Hematology, 2025
Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study.
Tesi B et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Genotype-integrated single-cell transcriptome analysis reveals the role of DDX41 pR525H in a patient with myelodysplastic neoplasms.
Matsui H et al.
Scientific Reports, 2025
Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.
Ikoma Y et al.
Leukemia, 2025
Germline predispositions to myeloid malignancies: Across the lifespan.
Atluri H et al.
Seminars in Hematology, 2025
Clinical Outcome and Molecular Profile in Patients with DDX41 Mutation Hot-Spots.
Toumeh N et al.
Hematology Reports, 2025
Clinicopathological and prognostic significance of DDX41 mutation in myeloid neoplasms: a systematic review and meta-analysis.
Miao L et al.
Annals of Hematology, 2025
Prevalence of cytopenia(s) and somatic variants in patients with DDX41 mutant germline predisposition syndrome.
Kusne Y et al.
British Journal of Haematology, 2025
Germline DDX41 mutations in myeloid neoplasms: the current clinical and molecular understanding.
Kida J et al.
Current Opinion in Hematology, 2025
cfDNA Chimerism and Somatic Mutation Testing in Early Prediction of Relapse After Allogeneic Stem Cell Transplantation for Myeloid Malignancies.
Rowley SD et al.
Cancers, 2025
Myelodysplastic syndrome with dual germline RUNX1 and DDX41 variants: a rare genetic predisposition case.
Bove V et al.
Familial Cancer, 2025
Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical Implications.
Liu YC et al.
Annual Review of Pathology, 2025
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.
Sharma P et al.
Human Genetics, 2024
Post-transplant transient abnormal myelopoiesis evolving from a GATA1 mutant clone in umbilical cord blood.
Kubota Y et al.
Annals of Hematology, 2024
DDX41 dissolves G-quadruplexes to maintain erythroid genome integrity and prevent cGAS-mediated cell death.
Bi H et al.
Biorxiv : the Preprint Server for Biology, 2024
Molecular taxonomy of myelodysplastic syndromes and its clinical implications.
Bernard E et al.
Blood, 2024
Molecular pathophysiology of germline mutations in acute myeloid leukemia.
Nagata Y
International Journal of Hematology, 2024
Peripheral Blood and Bone Marrow Findings in Treatment-Naive Patients With Cytopenia(s)/Myeloid Neoplasms Harboring Both a Germline and a Somatic DDX41 Mutation.
Bruehl FK et al.
Applied Immunohistochemistry & Molecular Morphology : Aimm, 2024
Whole Exome Sequencing of Intermediate-Risk Acute Myeloid Leukemia without Recurrent Genetic Abnormalities Offers Deeper Insights into New Diagnostic Classifications.
Guijarro F et al.
International Journal of Molecular Sciences, 2024
1q jumping translocation as a biomarker in myeloid malignancy: frequently mutated genes associated with bad prognosis and low survival.
Halper-Stromberg E et al.
Experimental Hematology & Oncology, 2024
DDX41 haploinsufficiency causes inefficient hematopoiesis under stress and cooperates with p53 mutations to cause hematologic malignancy.
Stepanchick E et al.
Leukemia, 2024
Identification of Novel Potential Predisposing Variants in Familial Acute Myeloid Leukemia.
Ronchini C et al.
Cancer Reports (hoboken, N.j.), 2024
How to manage patients with germline DDX41 variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms.
Baliakas P et al.
Hemasphere, 2024
Impaired binding affinity of YTHDC1 with METTL3/METTL14 results in R-loop accumulation in myelodysplastic neoplasms with DDX41 mutation.
Hwang WC et al.
Leukemia, 2024
Evaluation of the pathogenic potential of germline DDX41 variants in hematopoietic neoplasms using the ACMG/AMP guidelines.
Matsui H et al.
International Journal of Hematology, 2024
Spliceosomal helicases DDX41/SACY-1 and PRP22/MOG-5 both contribute to proofreading against proximal 3' splice site usage.
Osterhoudt K et al.
Rna (new York, N.y.), 2024