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Article

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

6 Dec 2002

Abstract excerpt

Mutations in the human autoimmune regulator (AIRE ) gene cause a multi-systemic autoimmune syndrome that is known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). To date more than 39 different disease mutations have been identified. They span the entire region of the AIRE gene that encodes a polypeptide with multiple functional domains: an N-terminal homogeneously staining region...

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Identifiers

PMID: 12471056
DOI: 10.1093/hmg/11.26.3299

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targetingPMID 12471056Read ↗

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

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

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

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

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

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

APECED mutations in the autoimmune regulator (AIRE) gene.Semantic proximity Read ↗

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

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

Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domain.Semantic proximity Read ↗

AIRE-PHD fingers are structural hubs to maintain the integrity of chromatin-associated interactome.Semantic proximity Read ↗

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