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

Cloning of the APECED gene provides new insight into human autoimmunity.

Annals of medicine - 1 Apr 1999

Aaltonen J, Björses P

Abstract excerpt

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is the only autoimmune disease characterized so far that is caused by a defect in a single gene. We have recently isolated the defective gene in this disease by positional cloning and have identified several different mutations in APECED patients. This novel gene, AIRE, contains two plant homeodomain (PHD)-type zinc finger motifs and a newly...

Read the complete abstract on PubMed

Topics

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

Share to Autoimmunity
Share to Cloning, Molecular
Share to Disease Models, Animal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Finland

Share to Mutation

Share to Polyendocrinopathies, Autoimmune

Share to Transcription Factors

Source

Identifiers

PMID: 10344583
DOI: 10.3109/07853899708998786

Genes

AIRE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cloning of the APECED gene provides new insight into human autoimmunity.PMID 10344583Read ↗

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains.Semantic proximity Read ↗

Localization of the APECED protein in distinct nuclear structuresSemantic proximity Read ↗

AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc fingers.Semantic proximity Read ↗

Gene defect behind APECED: a new clue to autoimmunity.Semantic proximity Read ↗

Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.Semantic proximity Read ↗

The autoimmune regulator: a key toward understanding the molecular pathogenesis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Semantic proximity Read ↗

APECED-causing mutations in AIRE reveal the functional domains of the protein.Semantic proximity Read ↗

The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factorSemantic proximity Read ↗

Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED).Semantic proximity Read ↗

Population genetics and functions of the autoimmune regulator (AIRE).Semantic proximity Read ↗

Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targetingSemantic proximity Read ↗

Characterization of Regulatory Elements and Methylation Pattern of the Autoimmune Regulator (AIRE) PromoterSemantic proximity Read ↗

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