Associated Papers
Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.
Cranston T et al.
European Journal of Endocrinology, 2022
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
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
Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians.
Zaidi G et al.
Clinical Genetics, 2009
Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED.
Moraes-Vasconcelos D et al.
Journal of Clinical Immunology, 2008
DNA-PK contributes to the phosphorylation of AIRE: importance in transcriptional activity.
Liiv I et al.
Biochimica Et Biophysica Acta, 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
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
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
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