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

Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases.

International journal of molecular sciences - 29 Jul 2024

Bagyinszky Eva, An Seong Soo A

Abstract excerpt

TNF-α-induced protein 3 (TNFAIP3), commonly referred to as A20, is an integral part of the ubiquitin-editing complex that significantly influences immune regulation, apoptosis, and the initiation of diverse immune responses. The A20 protein is characterized by an N-terminal ovarian tumor (OTU) domain and a series of seven zinc finger (ZNF) domains. Mutations in the TNFAIP3 gene are implicated in various...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Predisposition to Disease
Share to Haploinsufficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Inflammation

Share to Mutation

Share to Tumor Necrosis Factor alpha-Induced Protein 3

Source

Open in PubMed Open full text

Identifiers

PMID: 39125844
DOI: 10.3390/ijms25158275
PMCID: PMC11311569

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases.PMID 39125844Read ↗

A novel missense mutation in TNFAIP3 causes haploinsufficiency of A20.Semantic proximity Read ↗

Haploinsufficiency of A20 caused by a novel pathogenic missense variant of TNFAIP3 and successfully treated with anti-TNF and immunosuppressive therapiesSemantic proximity Read ↗

Identification of an A20 critical region harboring missense variations that lead to autoinflammationSemantic proximity Read ↗

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.Semantic proximity Read ↗

Single nucleotide polymorphisms at the TNFAIP3/A20 locus and susceptibility/resistance to inflammatory and autoimmune diseases.Semantic proximity Read ↗

Case Report: A novel mutation in TNFAIP3 in a patient with type 1 diabetes mellitus and haploinsufficiency of A20.Semantic proximity Read ↗

Identification of a Novel Mutation in TNFAIP3 in a Family With Poly-Autoimmunity.Semantic proximity Read ↗

Haploinsufficiency of A20 caused by heterozygous mutations in the TNFAIP3 gene:A Case SeriesSemantic proximity Read ↗

Functional analysis of novel A20 variants in patients with atypical inflammatory diseases.Semantic proximity Read ↗

Five children with haploinsufficiency of A20 caused by heterozygous mutations in the TNFAIP3 gene.Semantic proximity Read ↗

Novel loss-of-function mutations in TNFAIP3 gene in patients with lupus nephritisSemantic proximity Read ↗

Multicenter international cohort study of haploinsufficiency of A20 reveals novel genetic architecture and phenotypic evolution.Semantic proximity Read ↗

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