Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference41 articles.
1. Autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy (APECED): autosomal recessive inheritance
2. Clinical Variation of Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy (APECED) in a Series of 68 Patients
3. Projection of an Immunological Self Shadow Within the Thymus by the Aire Protein
4. Mutations in the AIRE Gene: Effects on Subcellular Location and Transactivation Function of the Autoimmune Polyendocrinopathy-Candidiasis–Ectodermal Dystrophy Protein
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1. The AIRE G228W mutation disturbs the interaction of AIRE with its partner molecule SIRT1;Frontiers in Immunology;2022-09-06
2. Phylogeny, Structure, Functions, and Role of AIRE in the Formation of T-Cell Subsets;Cells;2022-01-07
3. Transcriptional and epigenetic regulation in thymic epithelial cells*;Immunological Reviews;2021-11-08
4. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy;Frontiers in Pediatrics;2021-11-01
5. The AIRE G228W mutation results in a longer-lasting AIRE-SIRT1 interaction;2021-08-24
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