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

New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1.

PloS one - 1 Jan 2014

Mora Mireia, Hanzu Felicia A, Pradas-Juni Marta, Aranda Gloria B, Halperin Irene, Puig-Domingo Manuel, Aguiló Sira, Fernández-Rebollo Eduardo

Abstract excerpt

Autoimmune polyglandular syndrome type 1 (APS-1, OMIM 240300) is a rare autosomal recessive disorder, characterized by the presence of at least two of three major diseases: hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis. We aim to identify the molecular defects and investigate the clinical and mutational characteristics in an index case and other members of a consanguineous family....

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 Base Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Models, Molecular

Share to Molecular Sequence Data

Share to Mutation

Share to Polyendocrinopathies, Autoimmune

Share to RNA Splice Sites

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 24988226
DOI: 10.1371/journal.pone.0101616
PMCID: PMC4079332

Genes

AIRE

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1.PMID 24988226Read ↗

A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.Semantic proximity Read ↗

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

Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.Semantic proximity Read ↗

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

A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1.Semantic proximity Read ↗

A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1.Semantic proximity Read ↗

Autoimmune Regulator-1 Messenger Ribonucleic Acid Analysis in a Novel Intronic Mutation and Two Additional Novel<i>AIRE</i>Gene Mutations in a Cohort of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy PatientsSemantic proximity Read ↗

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

Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.Semantic proximity Read ↗

Dual genetic diagnoses: AIRE and FOXRED1-Related Syndromes in two brothersSemantic proximity Read ↗

Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1.Semantic proximity Read ↗

Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies.Semantic proximity Read ↗

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