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

Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.

Human mutation - 1 Oct 2005

Ilmarinen Tanja, Eskelin Petra, Halonen Maria, Rüppell Taina, Kilpikari Riika, Torres Gilberto Duran, Kangas Hannele, Ulmanen Ismo

Abstract excerpt

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare disorder caused by mutations in the autoimmune regulator gene (AIRE) and characterized by a variable combination of organ-specific autoimmune diseases. Studies on AIRE-deficient mice suggest that AIRE is an important factor in the establishment and maintenance of self-tolerance. The AIRE protein contains several structural domains...

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 Caco-2 Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chlorocebus aethiops

Share to COS Cells

Share to Microscopy, Fluorescence

Share to Polyendocrinopathies, Autoimmune

Share to Transcriptional Activation

Source

Identifiers

PMID: 16114041
DOI: 10.1002/humu.20224

Genes

AIRE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.PMID 16114041Read ↗

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

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

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

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

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

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

A novel missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1.Semantic proximity Read ↗

Novel homozygous AIRE mutation in a German patient with severe APECED.Semantic proximity Read ↗

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

Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis.Semantic proximity Read ↗

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

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