Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.M1I
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DDX41

NM_016222.4:p.M1I

Associated Papers

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

Elbaz Younes I et al.

Cancers, 2026

Impact of CHEK2 germline variants on haematological malignancy risk and outcomes of allogeneic HSCT.

Lahtinen AK et al.

British Journal of Haematology, 2025

40506802 (PubMed )
Supplement: BJH-207-636-s001.docx

Clinicopathological and prognostic significance of DDX41 mutation in myeloid neoplasms: a systematic review and meta-analysis.

Miao L et al.

Annals of Hematology, 2025

ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.

Sande CM et al.

The Journal of Clinical Investigation, 2025

40179146 (PubMed )
Supplement: jci-135-181659-s295.pdf

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

Genome-first determination of the prevalence and penetrance of eight germline myeloid malignancy predisposition genes: a study of two population-based cohorts.

Hendricks RM et al.

Leukemia, 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_

DDX41: exploring the roles of a versatile helicase.

Winstone L et al.

Biochemical Society Transactions, 2024

Multifunctional role of DEAD-box helicase 41 in innate immunity, hematopoiesis and disease.

Ma J et al.

Frontiers in Immunology, 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

Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia.

Olkinuora A et al.

Leukemia, 2023

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

Molteni E et al.

Blood, 2023

DDX41 mutations in patients with non-myeloid hematologic neoplasms.

Jelloul FZ et al.

American Journal of Hematology, 2023

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2

Case Report of a Myeloid Neoplasm with Pathogenic Germline Variant in DDX41 and Constitutional inv(7)(q11.2q22) Along With JAK2 Pathogenic Variant in a 9-Year-old Patient Who Presented With Features of Essential Thrombocythemia.

Gray AL et al.

Journal of Pediatric Hematology/oncology, 2023

Increased clonal hematopoiesis involving DNA damage response genes in patients undergoing lung transplantation.

Tague LK et al.

Jci Insight, 2023

36853803 (PubMed )
Supplement: jciinsight-8-165609-s144.pdf

Genomic and transcriptomic analyses identify a prognostic gene signature and predict response to therapy in pleural and peritoneal mesothelioma.

Nair NU et al.

Cell Reports. Medicine, 2023

36773602 (PubMed )
Supplement: mmc2.xlsx › Table_S1

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

Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients.

Lahtinen AK et al.

Bone Marrow Transplantation, 2023

36195768 (PubMed )
Supplement: 41409_2022_1828_MOESM1_ESM.docx

Biallelic disruption of DDX41 activity is associated with distinct genomic and immunophenotypic hallmarks in acute leukemia.

Tierens A et al.

Frontiers in Oncology, 2023

37434984 (PubMed )
Supplement: Table_2.pdf

Pediatric Germline Predisposition to Myeloid Neoplasms.

Thompson C et al.

Current Hematologic Malignancy Reports, 2022

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

Badar T et al.

Current Hematologic Malignancy Reports, 2022

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

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

A novel bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia: case report.

Shin WY et al.

Bmc Medical Genomics, 2022

AML with germline DDX41 variants is a clinicopathologically distinct entity with an indolent clinical course and favorable outcome.

Li P et al.

Leukemia, 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

Molecular Pathogenesis in Myeloid Neoplasms with Germline Predisposition.

Gao J et al.

Life (basel, Switzerland), 2021

Clinical and Pathologic Spectrum of DDX41-Mutated Hematolymphoid Neoplasms.

Goyal T et al.

American Journal of Clinical Pathology, 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

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

Wan Z et al.

Therapeutic Advances in Hematology, 2021

[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

Rare germline variant contributions to myeloid malignancy susceptibility.

Li ST et al.

Leukemia, 2020

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

Abou Dalle I et al.

American Journal of Hematology, 2020

Correct application of variant classification guidelines in germline RUNX1 mutated disorders to assist clinical diagnosis.

Brown AL et al.

Leukemia & Lymphoma, 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

Myeloid neoplasms with germline DDX41 mutation.

Cheah JJC et al.

International Journal of Hematology, 2017

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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."