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
Selected Genetic Factors Associated with Primary Ovarian Insufficiency.
Chen M et al.
International Journal of Molecular Sciences, 2023
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
Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1.
Ruan J et al.
Bmc Medical Genomics, 2021
A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1.
Zheng WB et al.
Molecular Medicine Reports, 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
Select a paper to view details