Associated Papers
Systematic and proactive evaluation of AIRE missense variant effects.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
The Putative Role of TIM-3 Variants in Polyendocrine Autoimmunity: Insights from a WES Investigation.
Ariolli A et al.
International Journal of Molecular Sciences, 2024
Analysis of the AIRE Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes.
Cudini A et al.
International Journal of Molecular Sciences, 2024
Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.
Ferré EMN et al.
Frontiers in Immunology, 2023
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
In Search for the Missing Link in APECED-like Conditions: Analysis of the AIRE Gene in a Series of 48 Patients.
Fierabracci A et al.
Journal of Clinical Medicine, 2022
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Characterization of Rheumatoid Arthritis Risk-Associated SNPs and Identification of Novel Therapeutic Sites Using an In-Silico Approach.
Akhtar M et al.
Biology, 2021
GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility.
Eriksson D et al.
Nature Communications, 2021
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
AIRE-mutations and autoimmune disease.
Bruserud Ø et al.
Current Opinion in Immunology, 2016
AIRE genetic variants and predisposition to polygenic autoimmune disease: The case of Graves' disease and a systematic literature review.
Colobran R et al.
Human Immunology, 2016
Analysis of the autoimmune regulator gene in patients with autoimmune non-APECED polyendocrinopathies.
Palma A et al.
Genomics, 2013
A low-frequency GLIS3 variant associated with resistance to Japanese type 1 diabetes.
Awata T et al.
Biochemical and Biophysical Research Communications, 2013
Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p.
Grossi A et al.
Gene, 2013
Association of the AIRE gene with susceptibility to rheumatoid arthritis in a European population: a case control study.
García-Lozano JR et al.
Arthritis Research & Therapy, 2013
Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism.
Hori T et al.
Journal of Clinical Immunology, 2012
[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
The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.
Terao C et al.
Human Molecular Genetics, 2011
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.
Zhang G et al.
Human Mutation, 2010
AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED.
Cervato S et al.
Clinical Endocrinology, 2010
The role of AIRE polymorphisms in melanoma.
Conteduca G et al.
Clinical Immunology (orlando, Fla.), 2010
Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.
Faiyaz-Ul-Haque M et al.
Clinical Genetics, 2009
AIRE gene analysis in children with autoimmune hepatitis type I or II.
Lankisch TO et al.
Journal of Pediatric Gastroenterology and Nutrition, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I.
Bøe Wolff AS et al.
Genes and Immunity, 2008
AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis.
Ferrera F et al.
Clinical Immunology (orlando, Fla.), 2007
Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.
Stolarski B et al.
Clinical Genetics, 2006
Investigation of the p.Ser278Arg polymorphism of the autoimmune regulator (AIRE) gene in alopecia areata.
Pforr J et al.
Tissue Antigens, 2006
Association analysis of the AIRE and insulin genes in Finnish type 1 diabetic patients.
Turunen JA et al.
Immunogenetics, 2006
Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis.
Tazi-Ahnini R et al.
Tissue Antigens, 2002
A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan.
Sato K et al.
Endocrine Journal, 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
Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1).
Wang CY et al.
Human Genetics, 1998
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
Scott HS et al.
Molecular Endocrinology (baltimore, Md.), 1998
Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3.
Zhang W et al.
Genes and Immunity, 0