Associated Papers
Systematic and proactive evaluation of AIRE missense variant effects.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.
Cranston T et al.
European Journal of Endocrinology, 2022
Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review.
Zhan F et al.
Immunologic Research, 2021
Functional Domains of Autoimmune Regulator (AIRE) Modulate INS-VNTR Transcription in Human Thymic Epithelial Cells.
Sparks AE et al.
The Journal of Biological Chemistry, 2016
Extended HSR/CARD domain mediates AIRE binding to DNA.
Maslovskaja J et al.
Biochemical and Biophysical Research Communications, 2015
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation.
Capalbo D et al.
International Journal of Endocrinology, 2012
Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy.
Tóth B et al.
Clinical Endocrinology, 2010
Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED.
Moraes-Vasconcelos D et al.
Journal of Clinical Immunology, 2008
Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: new views on molecular basis of autoimmunity.
Peterson P et al.
Journal of Autoimmunity, 2005
APECED-causing mutations in AIRE reveal the functional domains of the protein.
Halonen M et al.
Human Mutation, 2004
Autoimmune regulator (AIRE) gene on chromosome 21: implications for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) any more common manifestations of endocrine autoimmunity.
Meyer G et al.
Journal of Endocrinological Investigation, 2002
Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.
Meloni A et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
APECED mutations in the autoimmune regulator (AIRE) gene.
Heino M et al.
Human Mutation, 2001
Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.
Cihakova D et al.
Human Mutation, 2001
The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein.
Pitkänen J et al.
The Journal of Biological Chemistry, 2000
Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: response to immunosuppressive therapy.
Ward L et al.
The Journal of Clinical Endocrinology and Metabolism, 1999