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
Clinical and Molecular Spectrum of DDX41 Variants in Korean Patients with Hematologic Malignancies.
Kim B et al.
Journal of Clinical Medicine, 2025
Genomic variation in DDX41 identified through clinical sequencing.
Wells C et al.
British Journal of Haematology, 2025
Molecular taxonomy of myelodysplastic syndromes and its clinical implications.
Bernard E et al.
Blood, 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
Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders.
Trottier AM et al.
Best Practice & Research. Clinical Haematology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
DDX41: exploring the roles of a versatile helicase.
Winstone L et al.
Biochemical Society Transactions, 2024
The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencing.
Maierhofer A et al.
Blood Advances, 2023
Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms.
Badar T et al.
Haematologica, 2023
Characteristics and clinical outcomes of patients with myeloid malignancies and DDX41 variants.
Bataller A et al.
American Journal of Hematology, 2023
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC et al.
Blood Advances, 2023
Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.
Molteni E et al.
Blood, 2023
Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.
Nannya Y et al.
Blood Advances, 2023
DDX41-associated susceptibility to myeloid neoplasms.
Makishima H et al.
Blood, 2023
Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.
Makishima H et al.
Blood, 2023
Clinical and mechanistic insights into the roles of DDX41 in haematological malignancies.
Weinreb JT et al.
Febs Letters, 2022
Germline and Somatic Defects in DDX41 and its Impact on Myeloid Neoplasms.
Badar T et al.
Current Hematologic Malignancy Reports, 2022
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.
Umeda M et al.
Blood Cancer Discovery, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
A novel bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia: case report.
Shin WY et al.
Bmc Medical Genomics, 2022
Unique ethnic features of DDX41 mutations in patients with idiopathic cytopenia of undetermined significance, myelodysplastic syndrome, or acute myeloid leukemia.
Choi EJ et al.
Haematologica, 2022
Reduction of blood group A antigen on erythrocytes in a patient with myelodysplastic syndrome harboring somatic mutations in RUNX1 and GATA2.
Hayakawa A et al.
Transfusion, 2022
DDX41: a multifunctional DEAD-box protein involved in pre-mRNA splicing and innate immunity.
Andreou AZ
Biological Chemistry, 2021
New progress in the study of germline susceptibility genes of myeloid neoplasms.
Bi L et al.
Oncology Letters, 2021
Molecular and clinical features of myeloid neoplasms with somatic DDX41 mutations.
Qu S et al.
British Journal of Haematology, 2021
Clinical features of DDX41 mutation-related diseases: a systematic review with individual patient data.
Wan Z et al.
Therapeutic Advances in Hematology, 2021
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
Insights into the Involvement of Spliceosomal Mutations in Myelodysplastic Disorders from Analysis of SACY-1/DDX41 in Caenorhabditis elegans.
Tsukamoto T et al.
Genetics, 2020
Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review.
Miller DB et al.
Frontiers in Genetics, 2020
Germline DDX41 mutations define a significant entity within adult MDS/AML patients.
Sébert M et al.
Blood, 2019
DDX41 mutations in myeloid neoplasms are associated with male gender, TP53 mutations and high-risk disease.
Quesada AE et al.
American Journal of Hematology, 2019
Putative new childhood leukemia cancer predisposition syndrome caused by germline bi-allelic missense mutations in DDX41.
Diness BR et al.
Genes, Chromosomes & Cancer, 2018
Myeloid neoplasms with germline DDX41 mutation.
Cheah JJC et al.
International Journal of Hematology, 2017
Structural and functional analyses of human DDX41 DEAD domain.
Jiang Y et al.
Protein & Cell, 2017
Structural and Functional Analysis of DDX41: a bispecific immune receptor for DNA and cyclic dinucleotide.
Omura H et al.
Scientific Reports, 2016
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
Lewinsohn M et al.
Blood, 2016
Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms.
Polprasert C et al.
Cancer Cell, 2015