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

APECED-causing mutations in AIRE reveal the functional domains of the protein.

Human mutation - 1 Mar 2004

Halonen Maria, Kangas Hannele, Rüppell Taina, Ilmarinen Tanja, Ollila Juha, Kolmer Meelis, Vihinen Mauno, Palvimo Jorma, Saarela Jani, Ulmanen Ismo, Eskelin Petra

Abstract excerpt

A defective form of the AIRE protein causes autoimmune destruction of target organs by disturbing the immunological tolerance of patients with a rare monogenic disease, autoimmune polyendocrinopathy (APE)-candidiasis (C)-ectodermal dystrophy (ED), APECED. Recently, experiments on knockout mice re...

Read the complete abstract on PubMed

Topics

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

Share to COS Cells
Share to Intracellular Space
Share to AIRE Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chlorocebus aethiops

Share to Leucine Zippers

Share to Models, Structural

Share to Polyendocrinopathies, Autoimmune

Share to Protein Structure, Quaternary

Source

Identifiers

PMID: 14974083
DOI: 10.1002/humu.20003

Genes

AIRE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14974083-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

APECED-causing mutations in AIRE reveal the functional domains of the protein.PMID 14974083Read ↗

Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.Semantic proximity Read ↗

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

Disruption of immunological tolerance: role of AIRE gene in autoimmunity.Semantic proximity Read ↗

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

A novel mutation in autoimmune regulator gene causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Semantic proximity Read ↗

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

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

Aire deficient mice develop multiple features of APECED phenotype and show altered immune responseSemantic proximity Read ↗

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

Patient mutation in AIRE disrupts P-TEFb binding and target gene transcription.Semantic proximity Read ↗

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

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