ESR1 mutations associated with EIS change conformation of ligand receptor complex and alter transcriptome profile.
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DOI: 10.1210/endocr/bqaa050
Abstract: Estrogen insensitivity syndrome (EIS) arises from rare mutations in estrogen receptor α (ERα, encoded by ESR1 gene) resulting in the inability of estrogen to exert its biological effects. Due to the rarity, mutations in ESR1… read more here.
Keywords: change conformation; receptor; conformation ligand; esr1 ... See more keywords