Associated Papers
Systematic and proactive evaluation of AIRE missense variant effects.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
Partial Lipodystrophy Affecting the Extremities in a Young Woman With Autoimmune Polyglandular Syndrome 1.
Agarwal S et al.
Jcem Case Reports, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
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
Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature.
Cinque L et al.
Biomedicines, 2020
Dual functions of Aire CARD multimerization in the transcriptional regulation of T cell tolerance.
Huoh YS et al.
Nature Communications, 2020
Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case-control Study.
Toraih EA et al.
Immunological Investigations, 2020
A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.
Zhu W et al.
Immunogenetics, 2017
DNA breaks and chromatin structural changes enhance the transcription of autoimmune regulator target genes.
Guha M et al.
The Journal of Biological Chemistry, 2017
AIRE-mutations and autoimmune disease.
Bruserud Ø et al.
Current Opinion in Immunology, 2016
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
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
Oftedal BE et al.
Immunity, 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
Prediction of disease-related mutations affecting protein localization.
Laurila K et al.
Bmc Genomics, 2009
Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED.
Moraes-Vasconcelos D et al.
Journal of Clinical Immunology, 2008
AIRE's CARD revealed, a new structure for central tolerance provokes transcriptional plasticity.
Ferguson BJ et al.
The Journal of Biological Chemistry, 2008
Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.
Ilmarinen T et al.
Human Mutation, 2005
Cooperative activation of transcription by autoimmune regulator AIRE and CBP.
Pitkänen J et al.
Biochemical and Biophysical Research Communications, 2005
Two novel mutations of the AIRE protein affecting its homodimerization properties.
Meloni A et al.
Human Mutation, 2005
Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: new views on molecular basis of autoimmunity.
Peterson P et al.
Journal of Autoimmunity, 2005
Absence of Heterozygous K83E and R257X Mutations of the AIRE-1 Gene in 46 Children with Type 1 Diabetes and 44 Children with Graves' Disease.
Iwama S et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2005
APECED-causing mutations in AIRE reveal the functional domains of the protein.
Halonen M et al.
Human Mutation, 2004
Autoimmune regulator: from loss of function to autoimmunity.
Pitkänen J et al.
Genes and Immunity, 2003
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
The genetic background of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy and its autoimmune disease components.
Vogel A et al.
Journal of Molecular Medicine (berlin, Germany), 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
The autoimmune regulator: a key toward understanding the molecular pathogenesis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Meriluoto T et al.
The Keio Journal of Medicine, 2001
APECED mutations in the autoimmune regulator (AIRE) gene.
Heino M et al.
Human Mutation, 2001
Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domain.
Pitkänen J et al.
The Journal of Biological Chemistry, 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
Mutation analyses of North American APS-1 patients.
Heino M et al.
Human Mutation, 1999
A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1.
Pearce SH et al.
American Journal of Human Genetics, 1998