Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 4 of 4 for “"autoimmune regulator"”.
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Epigenetic analysis of promiscuous gene expression in central tolerance
The autoimmune regulator (AIRE), a key player in negative selection of developing thymocytes, acts as a transcriptional regulator, inducing the expression of tissue restricted antigens (TRA) within medullary thymic epithelial cells in a process known as promiscuous gene expression (PGE). Here we …
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Systematically and proactively testing variant effects for AIRE and SOD1
… maps for two disease-associated genes: 1) the autoimmune regulator (AIRE), which is implicated in autoimmune polyendocrine syndrome type 1 (APS-1); and 2) superoxide dismutase 1 (SOD1), which is implicated in amyotrophic lateral sclerosis (ALS). The resulting variant effect map of AIRE missense …
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Studio delle modificazioni post-traduzionali della proteina AIRE e dell’effetto sulla sua attività trascrizionale, stabilità e localizzazione cellulare
The AIRE protein plays a remarkable role as a regulator of central tolerance by controlling the promiscuous expression of tissue-specific antigens in thymic medullary epithelial cells. Defects in the AIRE gene cause the autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy, a rare disease …