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Article

Patient mutation in AIRE disrupts P-TEFb binding and target gene transcription.

Nucleic acids research - 1 Oct 2011

Žumer Kristina, Plemenitaš Ana, Saksela Kalle, Peterlin B Matija

Abstract excerpt

Autoimmune regulator (AIRE) is a transcription factor that induces the expression of a large subset of otherwise strictly tissue restricted antigens in medullary thymic epithelial cells, thereby enabling their presentation to developing T cells for negative selection. Mutations in AIRE lead to autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), a rare monogenetic disease. Although it has been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 21724609
DOI: 10.1093/nar/gkr527
PMCID: PMC3185428

Genes

AIRE
CDK9

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.

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