2021年10月28日 · DDX41-associated familial myelodysplastic syndrome and acute myeloid leukemia (MDS/AML) is characterized by an increased risk of myeloid neoplasms, lymphoid neoplasms, adult-onset single- or multiple-lineage cytopenias (including aplastic anemia), and red blood cell macrocytosis.

2023年1月23日 · The DEAD-box RNA helicase 41, DDX41, is one of the most frequently identified mutations in myeloid neoplasms with germline predispositions, which represents 2% of the entire MDS/AML population. DDX41 is located at 5q35.3, and its mutation has unique ...

2022年5月24日 · Upon binding double-stranded DNA (dsDNA), cyclic GMP-AMP synthase (cGAS) is activated and initiates the cGAS-stimulator of IFN genes (STING)-type I interferon pathway. DEAD-box helicase 41 (DDX41) is a DEAD-box helicase, and mutations in DDX41 cause myelodysplastic syndromes (MDSs) and acute myeloid …

2024年12月24日 · DDX41 (DEAD-Box Helicase 41) is a Protein Coding gene. Diseases associated with DDX41 include Myeloproliferative/Lymphoproliferative Neoplasms, Familial and Ddx41-Related Hematologic Malignancy Predisposition Syndrome. Among its related pathways are Processing of Capped Intron-Containing Pre-mRNA and Cytosolic sensors of pathogen-associated DNA.

Probable ATP-dependent RNA helicase DDX41 is an enzyme that in humans is encoded by the DDX41 gene. [5][6] DEAD box proteins, characterized by the conserved motif Asp - Glu - Ala -Asp (DEAD), are putative RNA helicases.

2024年2月2日 · In this review, we will summarize the latest understandings regarding the various roles of DDX41, as well as highlight challenges associated with drug development to target DDX41. Overall, understanding the molecular and cellular mechanisms of DDX41 could help develop novel therapeutic options for DDX41 mutation-related hematologic malignancies.

2023年4月10日 · DDX41, a DEAD/H-box helicase gene located on chromosome 5q35.3, mutation (m) is rarely seen in myeloid neoplasms (1–2%) and is usually associated with myelodysplastic neoplasms (MDS) and acute ...

2023年2月2日 · Here we reveal the spectrum of common pathogenic DDX41 germ line variants across multiple ethnicities, estimate the age-related risk of MN development ascribed to pathogenic DDX41 germ line variants, and unveil their unique genetic and clinical features, through a large international collaboration accruing 346 DDX41 -mutated MN cases.

2022年8月18日 · These studies strengthen claims that acute myeloid leukemia (AML) with DDX41 MutGL represents a unique clinicopathological entity. It is typically characterized by late‐onset disease, normal karyotype, male sex skewing (2.7:1), and favorable outcome.

DDX41是一种参与到了DNA修复过程中的关键蛋白，其在维持基因组稳定性上扮演着关键角色，DDX41的突变会通过形成R-环结构增加基因组的稳定性，其中 ...