SAT-205 ESR1 Q375H and R394H Mutants Associated with Estrogen Insensitivity Syndrome Mediate Genome-Wide Genetic and Epigenetic Aberrances

Estrogen insensitivity syndrome (EIS) or estrogen resistance is very rare and most commonly caused by a mutation in ERα that results in the inability of estrogen to exert its biological effects. However, mutations in ESR1 gene and the underlying molecular mechanisms have not been thoroughly studied....

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Publicat a:J Endocr Soc
Autors principals: Li, Yin, Hamilton, Katherine, Wang, Tianyuan, Perera, Lalith, Zhang, Austin, Jefferson, Tanner, Mathura, Emilie, Gerrish, Kevin, Wharey, Laura, Gruzdev, Artiom, Martin, Negin, Li, Jianliang, Korach, Kenneth
Format: Artigo
Idioma:Inglês
Publicat: Endocrine Society 2019
Matèries:
Reproductive Endocrinology
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6552138/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SAT-205
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