Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Germline DDX41 mutations cause ineffective hematopoiesis and myelodysplasia.

Cell stem cell - 4 Nov 2021

Chlon Timothy M, Stepanchick Emily, Hershberger Courtney E, Daniels Noah J, Hueneman Kathleen M, Kuenzi Davis Ashley, Choi Kwangmin, Zheng Yi, Gurnari Carmelo, Haferlach Torsten, Padgett Richard A, Maciejewski Jaroslaw P, Starczynowski Daniel T

Abstract excerpt

DDX41 mutations are the most common germline alterations in adult myelodysplastic syndromes (MDSs). The majority of affected individuals harbor germline monoallelic frameshift DDX41 mutations and subsequently acquire somatic mutations in their other DDX41 allele, typically missense R525H. Hematopoietic progenitor cells (HPCs) with biallelic frameshift and R525H mutations undergo cell cycle arrest and apoptosis,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acute Myeloid Leukemia Research
Share to DEAD-box RNA Helicases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germ Cells

Share to Hematopoiesis

Share to Mutation

Share to Myelodysplastic Syndromes

Share to RNA Research and Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 34473945
DOI: 10.1016/j.stem.2021.08.004
PMCID: PMC8571055

Genes

DDX41

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Germline DDX41 mutations cause ineffective hematopoiesis and myelodysplasia.PMID 34473945Read ↗

Myeloid neoplasms with germline DDX41 mutation.Semantic proximity Read ↗

Germline DDX41 mutations in myeloid neoplasms: the current clinical and molecular understanding.Semantic proximity Read ↗

Germline DDX41 mutations in myeloid neoplasms: a comprehensive review.Semantic proximity Read ↗

Successful lenalidomide treatment in high risk myelodysplastic syndrome with germline DDX41 mutationSemantic proximity Read ↗

Current Understanding of DDX41 Mutations in Myeloid NeoplasmsSemantic proximity Read ↗

Clinical and mechanistic insights into the roles of DDX41 in haematological malignancies.Semantic proximity Read ↗

Germline DDX41 Variants: Current Understanding and Future Directions.Semantic proximity Read ↗

How to manage patients with germline DDX41 variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasmsSemantic proximity Read ↗

Myelodysplastic syndrome with dual germline RUNX1 and DDX41 variants: a rare genetic predisposition case.Semantic proximity Read ↗

Germline DDX41 mutations define a significant entity within adult MDS/AML patientsSemantic proximity Read ↗

DDX41 haploinsufficiency causes inefficient hematopoiesis under stress and cooperates with p53 mutations to cause hematologic malignancy.Semantic proximity Read ↗

Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemiaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.