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

Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.

Human genetics - 1 Dec 2024

Sharma Prashant, McFadden Jason R, Frost F Graeme, Markello Thomas C, Grange Dorothy K, Introne Wendy J, Gahl William A, Malicdan May Christine V

Abstract excerpt

DDX41 (DEAD‑box helicase 41) is a member of the largest family of RNA helicases. The DEAD-box RNA helicases share a highly conserved core structure and regulate all aspects of RNA metabolism. The functional role of DDX41 in innate immunity is also highly conserved. DDX41 acts as a sensor of viral DNA and activates the STING-TBK1-IRF3-type I IFN signaling pathway. Germline heterozygous variants in DDX41 have been...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to DEAD-box RNA Helicases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fibroblasts

Share to Germ-Line Mutation

Share to Ichthyosis

Source

Open in PubMed Open full text

Identifiers

PMID: 39453476
DOI: 10.1007/s00439-024-02708-8
PMCID: PMC11576897

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.PMID 39453476Read ↗

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

Current Understanding of DDX41 Mutations in Myeloid NeoplasmsSemantic proximity Read ↗

DDX41: exploring the roles of a versatile helicase.Semantic proximity Read ↗

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

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

DDX5 and its associated lncRNA Rmrp modulate TH17 cell effector functions.Semantic proximity Read ↗

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

DDX41-associated susceptibility to myeloid neoplasmsSemantic proximity Read ↗

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

The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.Semantic proximity Read ↗

Genotype-integrated single-cell transcriptome analysis of a myelodysplastic neoplasm case reveals the role of DDX41 p.R525HSemantic proximity Read ↗

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.Semantic proximity Read ↗

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