Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.D140fs
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DDX41

NM_016222.4:p.D140fs

Associated Papers

Refinement of the classification of DDX41 variants through analysis of aggregated clinical datasets.

Tiong IS et al.

Leukemia, 2026

Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.

Elbaz Younes I et al.

Cancers, 2026

Clinical and Molecular Spectrum of DDX41 Variants in Korean Patients with Hematologic Malignancies.

Kim B et al.

Journal of Clinical Medicine, 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

Molecular taxonomy of myelodysplastic syndromes and its clinical implications.

Bernard E et al.

Blood, 2024

38958467 (PubMed )
Supplement: BLOOD_BLD-2023-023727-mmc1.xlsx › Table_S6__DDX41_

Molecular pathophysiology of germline mutations in acute myeloid leukemia.

Nagata Y

International Journal of Hematology, 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

DDX41: exploring the roles of a versatile helicase.

Winstone L et al.

Biochemical Society Transactions, 2024

Allogeneic Hematopoietic Stem Cell Transplantation for Acute Myeloid Leukemia With a Germline DDX41 Mutation.

Yoshida S et al.

Case Reports in Hematology, 2024

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

Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.

Molteni E et al.

Blood, 2023

37216690 (PubMed )
Supplement: BLOOD_BLD-2022-019304-mmc1.pdf

DDX41 mutations in patients with non-myeloid hematologic neoplasms.

Jelloul FZ et al.

American Journal of Hematology, 2023

DDX41-associated susceptibility to myeloid neoplasms.

Makishima H et al.

Blood, 2023

Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.

Saygin C et al.

Blood Advances, 2023

36001442 (PubMed )
Supplement: BLOODA_ADV-2022-008172-mmc1.pdf

Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.

Makishima H et al.

Blood, 2023

Current Understanding of DDX41 Mutations in Myeloid Neoplasms.

Kim K et al.

Cancers, 2023

Prioritization of patients for germline testing based on tumor profiling of hematopoietic malignancies.

Godley LA

Frontiers in Oncology, 2023

Germline and Somatic Defects in DDX41 and its Impact on Myeloid Neoplasms.

Badar T et al.

Current Hematologic Malignancy Reports, 2022

Prognostic impact of DDX41 germline mutations in intensively treated acute myeloid leukemia patients: an ALFA-FILO study.

Duployez N et al.

Blood, 2022

DDX41: the poster child for familial AML.

Rio-Machin A et al.

Blood, 2022

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1

Integrating germline variant assessment into routine clinical practice for myelodysplastic syndrome and acute myeloid leukaemia: current strategies and challenges.

Tawana K et al.

British Journal of Haematology, 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

Genetic features and clinical outcomes of patients with isolated and comutated DDX41-mutated myeloid neoplasms.

Alkhateeb HB et al.

Blood Advances, 2022

Unique role of DDX41, a DEAD-box type RNA helicase, in hematopoiesis and leukemogenesis.

Shinriki S et al.

Frontiers in Oncology, 2022

Germline predisposition to hematopoietic malignancies.

Feurstein S et al.

Human Molecular Genetics, 2021

Inherited predisposition to haematopoietic malignancies: overcoming barriers and exploring opportunities.

Trottier AM et al.

British Journal of Haematology, 2021

Next-generation sequencing reveals the presence of DDX41 mutations in acute lymphoblastic leukemia and aplastic anemia.

Zhang Y et al.

Ejhaem, 2021

Molecular and clinical features of myeloid neoplasms with somatic DDX41 mutations.

Qu S et al.

British Journal of Haematology, 2021

Advances in germline predisposition to acute leukaemias and myeloid neoplasms.

Klco JM et al.

Nature Reviews. Cancer, 2021

Clinical features of DDX41 mutation-related diseases: a systematic review with individual patient data.

Wan Z et al.

Therapeutic Advances in Hematology, 2021

Identifying potential germline variants from sequencing hematopoietic malignancies.

Kraft IL et al.

Hematology. American Society of Hematology. Education Program, 2020

Identifying potential germline variants from sequencing hematopoietic malignancies.

Kraft IL et al.

Blood, 2020

[Lenalidomide for myelodysplastic syndrome with excess blasts with germline DDX41 mutation: a case report and literatures review].

Chen J et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2020

Successful lenalidomide treatment in high risk myelodysplastic syndrome with germline DDX41 mutation.

Abou Dalle I et al.

American Journal of Hematology, 2020

Novel DDX41 variants in Thai patients with myeloid neoplasms.

Polprasert C et al.

International Journal of Hematology, 2020

Next-Generation Sequencing of DDX41 in Myeloid Neoplasms Leads to Increased Detection of Germline Alterations.

Bannon SA et al.

Frontiers in Oncology, 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

Genomic sequencing identifies secondary findings in a cohort of parent study participants.

Thompson ML et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

DDX41-related myeloid neoplasia.

Maciejewski JP et al.

Seminars in Hematology, 2017

Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms.

Polprasert C et al.

Cancer Cell, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."