Associated Papers
Systematic and proactive evaluation of AIRE missense variant effects.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
Selected Genetic Factors Associated with Primary Ovarian Insufficiency.
Chen M et al.
International Journal of Molecular Sciences, 2023
Analysis of a series of Italian APECED patients with autoimmune hepatitis and gastro-enteropathies.
Paldino G et al.
Frontiers in Immunology, 2023
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
Hypoadrenalism as the Single Presentation of Autoimmune Polyglandular Syndrome Type 1.
Nasser NH et al.
Journal of the Endocrine Society, 2021
Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.
Garelli S et al.
Journal of Endocrinological Investigation, 2021
Novel Gene Mutations Regulating Immune Responses in Autoimmune Polyglandular Syndrome With an Atypical Course.
Yukina M et al.
Journal of the Endocrine Society, 2021
Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series.
Wang YB et al.
Orphanet Journal of Rare Diseases, 2021
Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review.
Zhan F et al.
Immunologic Research, 2021
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.
Capalbo D et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 2021
Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy.
Halabi I et al.
Frontiers in Endocrinology, 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
A case report and literature review: Identification of a novel AIRE gene mutation associated with Autoimmune Polyendocrine Syndrome Type 1 in East Asians.
Yan Z et al.
Medicine, 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
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.
Orlova EM et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Altered B cell homeostasis and Toll-like receptor 9-driven response in patients affected by autoimmune polyglandular syndrome Type 1: Altered B cell phenotype and dysregulation of the B cell function in APECED patients.
Perri V et al.
Immunobiology, 2017
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature.
Improda N et al.
Bmc Pediatrics, 2014
Identification of two novel mutations in the first Sicilian APECED patient with no R203X mutation in AIRE gene and review of Italian APECED genotypes.
Valenzise M et al.
Gene, 2012
Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives.
Capalbo D et al.
Journal of Endocrinological Investigation, 2012
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation.
Capalbo D et al.
International Journal of Endocrinology, 2012
Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
Mazza C et al.
Clinical Immunology (orlando, Fla.), 2011
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl.
Kollios K et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy.
Tóth B et al.
Clinical Endocrinology, 2010
Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations.
Orlova EM et al.
Hormone Research in Paediatrics, 2010
Clinical and microstructural aberrations of enamel of deciduous and permanent teeth in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Pavlic A et al.
Archives of Oral Biology, 2009
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
Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.
Podkrajsek KT et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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
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
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
Clinical and Genetic Characteristics of Ectodermal Dysplasia in Four Indian Children.
Kamat D et al.
Indian Journal of Dermatology, 0