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

Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE)

10 Nov 2017

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Hormones and Disorders
Share to Diabetes and associated disorders
Share to T-cell and B-cell Immunology

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 29129473
DOI: 10.1016/j.jaut.2017.10.010

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE)PMID 29129473Read ↗

AIRE-mutations and autoimmune disease.Semantic proximity Read ↗

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypesSemantic proximity Read ↗

Limited penetrance of dominantly inherited AIRE variants in a population-based cohort.Semantic proximity Read ↗

Rare variants and autoimmune disease.Semantic proximity Read ↗

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

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

Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1.Semantic proximity Read ↗

Autoimmune polyglandular syndrome type 1 and the autoimmune regulator.Semantic proximity Read ↗

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

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

Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden.Semantic proximity Read ↗

Mechanistic dissection of dominant AIRE mutations in mouse models reveals AIRE autoregulation.Semantic proximity Read ↗

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