ArticleEndocrinology2020
ESR1 Mutations Associated With Estrogen Insensitivity Syndrome Change Conformation of Ligand-Receptor Complex and Altered Transcriptome Profile.
Article in Endocrinology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 15 citations in OpenAlex.
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- A Novel BIRC6 Variant Impairs Apoptotic Regulation in Familial Premature Ovarian Insufficiency: Functional Validation in a CRISPR/Cas9 Zebrafish Model.Reproductive sciences (Thousand Oaks, Calif.) · 2026Article
- Research on the influence of bisphenol A on precocious puberty based on network toxicology and molecular dynamics simulation.Frontiers in endocrinology · 2026Article
- Network-based integrative analysis of multi-level regulatory mechanisms associated with glyphosate exposure.Frontiers in bioinformatics · 2026Article
- Genetic regulation of the estrogen receptor and inherited predisposition to breast cancer.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Impact of sex hormones on postoperative outcomes in plastic surgery: a narrative review.Frontiers in surgery · 2025Review
- Circulating miR-221/222 expression as microRNA biomarker predicting tamoxifen treatment outcome: a case-control study.Annals of medicine and surgery (2012) · 2023Article
- Running the Female Power Grid Across Lifespan Through Brain Estrogen Signaling.Annual review of physiology · 2022Review
- Functional Significance of Selective Expression of ERα and ERβ in Mammary Gland Organ Culture.International journal of molecular sciences · 2021Article
- Computational analysis of deleterious single nucleotide polymorphisms in catechol O-Methyltransferase conferring risk to post-traumatic stress disorder.Journal of psychiatric research · 2021Article
- GMQN: A Reference-Based Method for Correcting Batch Effects and Probe Bias in HumanMethylation BeadChip.Frontiers in genetics · 2021Article
- A mutant form of ERα associated with estrogen insensitivity affects the coupling between ligand binding and coactivator recruitment.Science signaling · 2020Article
- ESR1 Mutations Associated With Estrogen Insensitivity Syndrome Change Conformation of Ligand-Receptor Complex and Altered Transcriptome Profile.Endocrinology · 2020Article
Corrections and comments
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
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 its rarity, mutations in ESR1 gene and the underlying molecular mechanisms of EIS have not been thoroughly studied. Here, we investigate known ESR1 mutants, Q375H and R394H, associated with EIS patients using in vitro and in vivo systems. Comparison of the transcriptome and deoxyribonucleic acid methylome from stable cell lines of both Q375H and R394H clinical mutants shows a differential profile compared with wild-type ERα, resulting in loss of estrogen responsiveness. Molecular dynamic simulation shows that both ESR1 mutations change the ERα conformation of the ligand-receptor complexes. Furthermore, we generated a mouse model Esr1-Q harboring the human mutation using CRISPR/Cas9 genome editing. Female and male Esr1-Q mice are infertile and have similar phenotypes to αERKO mice. Overall phenotypes of the Esr1-Q mice correspond to those observed in the patient with Q375H. Finally, we explore the effects of a synthetic progestogen and a gonadotropin-releasing hormone inhibitor in the Esr1-Q mice for potentially reversing the impaired female reproductive tract function. These findings provide an important basis for understanding the molecular mechanistic consequences associated with EIS.
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