Associated Papers
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
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
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
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
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
Oftedal BE et al.
Immunity, 2015
[Autoimmune polyglandular syndrome type IIID in a girl].
Chen TT et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2012
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
Structure and site-specific recognition of histone H3 by the PHD finger of human autoimmune regulator.
Chakravarty S et al.
Structure (london, England : 1993), 2009
PHD fingers in human diseases: disorders arising from misinterpreting epigenetic marks.
Baker LA et al.
Mutation Research, 2008
Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED.
Moraes-Vasconcelos D et al.
Journal of Clinical Immunology, 2008
NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1). Insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) disease.
Bottomley MJ et al.
The Journal of Biological Chemistry, 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
APECED-causing mutations in AIRE reveal the functional domains of the protein.
Halonen M et al.
Human Mutation, 2004
AIRE functions as an E3 ubiquitin ligase.
Uchida D et al.
The Journal of Experimental Medicine, 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
Database for the mutations of the Finnish disease heritage.
Sipilä K et al.
Human Mutation, 2002
APECED mutations in the autoimmune regulator (AIRE) gene.
Heino M et al.
Human Mutation, 2001
Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Saugier-Veber P et al.
European Journal of Endocrinology, 2001
Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.
Björses P et al.
American Journal of Human Genetics, 2000