Associated Papers
Systematic and proactive evaluation of AIRE missense variant effects.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
41332640 (PubMed )
Supplement: media-2.xlsx › APS-1_patient_cohort
Novel homozygous mutations in AIRE leading to APS-1 and potential mechanisms based on bioinformatics analysis.
Wu H et al.
Heliyon, 2024
Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.
Cranston T et al.
European Journal of Endocrinology, 2022
A novel AIRE mutation leads to autoimmune polyendocrine syndrome type-1.
Qian G et al.
Frontiers in Cell and Developmental Biology, 2022
Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review.
Zhan F et al.
Immunologic Research, 2021
A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1.
Zheng WB et al.
Molecular Medicine Reports, 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
Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA.
Wang Y et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019
A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.
Zhu W et al.
Immunogenetics, 2017
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