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

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

Nature genetics - 1 Dec 1997

Abstract excerpt

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is the only described systemic autoimmune disease with established monogenic background, and the first autoimmune disorder localized outside the major histocompatibility complex (MHC) region. The primary biochemical defect in APECED is unknown. We have isolated a novel gene, AIRE, encoding for a putative nuclear protein featuring two PHD-type...

Read the complete abstract on PubMed

Topics

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

Share to AIRE Protein
Share to Cloning, Molecular
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Introns

Share to Nuclear Proteins

Share to Polyendocrinopathies, Autoimmune

Share to Transcription Factors

Share to Zinc Fingers

Source

Identifiers

PMID: 9398840
DOI: 10.1038/ng1297-399

Genes

AIRE

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

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains.PMID 9398840Read ↗

Cloning of the APECED gene provides new insight into human autoimmunity.Semantic proximity Read ↗

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

Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.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 ↗

Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Semantic proximity Read ↗

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.Semantic 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 ↗

Novel Insights into the Autoimmunity from the Genetic Approach of the Human Disease.Semantic proximity Read ↗

Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophySemantic proximity Read ↗

APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility FactorsSemantic 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 ↗

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