APS1 and celiac patients reveal autoimmune amelogenesis imperfecta. APS1 and celiac patients reveal autoimmune amelogenesis imperfecta

To investigate the dependence of amelogenesis imperfecta-related gene expression and ameloblast-related gene expression on Aire in the thymus, mTEChi from Aire+/+ and Aire-/- were sorted and subjected to bulk RNAseq. Overall design: mRNA profiles of mature medullary thymic epithelial cells (mTEChi) from young (4.5 weeks old) NOD.Aire-/- mice ,were generated by deep sequencing, using the MARSseq method.

为探究胸腺中自身免疫调节因子（Autoimmune Regulator, Aire）对釉质发育不全相关基因及成釉细胞相关基因表达的依赖关系，研究人员对Aire野生型（Aire+/+）与Aire敲除纯合型（Aire-/-）的成熟髓质胸腺上皮细胞（mTEChi）进行分选，并开展批量转录组测序。实验整体设计：采用MARSseq测序方法，对4.5周龄年轻NOD.Aire-/-小鼠的成熟髓质胸腺上皮细胞（mTEChi）进行深度测序，以获取其mRNA表达谱。