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

AIRE gene analysis in children with autoimmune hepatitis type I or II.

Journal of pediatric gastroenterology and nutrition - 1 Apr 2009

Lankisch Tim O, Mourier Olivia, Sokal Etienne M, Habes Dalila, Lacaille Florence, Bridoux-Henno Laure, Hermeziu Bogdan, Lenaerts Catherine, Strassburg Christian P, Jacquemin Emmanuel

Abstract excerpt

The present report describes AIRE gene analysis in 25 children with autoimmune hepatitis type I or II. The heterozygous transversion c.961C > G (p.Ser278Arg) located in exon 7 was identified in 4 patients with autoimmune hepatitis type I, and mostly in those presenting with a positive family history for autoimmune diseases. In this subgroup of patients, the allelic frequency of this polymorphic variant was at...

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 Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hepatitis, Autoimmune

Share to Heterozygote

Share to Point Mutation

Share to Sequence Analysis, DNA

Share to Transcription Factors

Source

Identifiers

PMID: 19322061
DOI: 10.1097/MPG.0b013e31818550de

Genes

AIRE

Variants

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

AIRE gene analysis in children with autoimmune hepatitis type I or II.PMID 19322061Read ↗

Autoimmune regulator AIRE: evidence for genetic differences between autoimmune hepatitis and hepatitis as part of the autoimmune polyglandular syndrome type 1.Semantic proximity Read ↗

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

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

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

Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants.Semantic proximity Read ↗

Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.Semantic proximity Read ↗

Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.Semantic proximity Read ↗

Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy.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 ↗

Mutation analyses of North American APS-1 patients.Semantic proximity Read ↗

A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1.Semantic proximity Read ↗

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