Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.A500fs
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DDX41

NM_016222.4:p.A500fs

Associated Papers

Overall cancer risk in people with deleterious germline DDX41 variants.

Korotev SC et al.

Haematologica, 2025

Diamond-Blackfan anemia syndrome in an adult with RPS19 and DDX41 variants successfully treated with allogeneic stem cell transplantation: a case report.

Gosho K et al.

Leukemia & Lymphoma, 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

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

Recurrent DDX41 mutation in very late relapse after allogeneic stem cell transplantation.

Kambara Y et al.

Leukemia, 2024

The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencing.

Maierhofer A et al.

Blood Advances, 2023

DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation.

Rolles B et al.

Blood Cancer Journal, 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

Pediatric Germline Predisposition to Myeloid Neoplasms.

Thompson C 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

Molecular Pathogenesis in Myeloid Neoplasms with Germline Predisposition.

Gao J et al.

Life (basel, Switzerland), 2021

Genetics of Myelodysplastic Syndromes.

Saygin C et al.

Cancers, 2021

DDX41: a multifunctional DEAD-box protein involved in pre-mRNA splicing and innate immunity.

Andreou AZ

Biological Chemistry, 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

34349893 (PubMed )
Supplement: sj-xlsx-3-tah-10.1177_20406207211032433.xlsx › Table_S2

[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

Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.

Kim B et al.

Scientific Reports, 2020

Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.

Kim B et al.

Plos One, 2019

Myeloid neoplasms with germline DDX41 mutation.

Cheah JJC et al.

International Journal of Hematology, 2017

Recognition of familial myeloid neoplasia in adults.

Brown AL et al.

Seminars in Hematology, 2017

DDX41-related myeloid neoplasia.

Maciejewski JP et al.

Seminars in 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."