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
Clinical and genetic characteristics of hypoparathyroidism in children: a multicenter experience in China.
Shen Y et al.
Journal of Endocrinological Investigation, 2025
Novel homozygous mutations in AIRE leading to APS-1 and potential mechanisms based on bioinformatics analysis.
Wu H et al.
Heliyon, 2024
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
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
A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.
Zhu W et al.
Immunogenetics, 2017
A novel mutation in autoimmune regulator gene causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Jin P et al.
Journal of Endocrinological Investigation, 2014
[Autoimmune regulator gene mutations in a Chinese family with autoimmune polyendocrinopathy syndrome type I].
Liu C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2010
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