Associated Papers
Novel estrogen receptor-α gene inactivating missense variant in a woman: Therapeutic challenge and long-term follow-up data.
Feigerlova E
Bone, 2025
Identification of a novel ESR1 mutation in a Chinese PCOS woman with estrogen insensitivity in IVF treatment.
Liu F et al.
Reproductive Biology and Endocrinology : Rb&e, 2022
The physiological role of estrogen receptor functional domains.
Arao Y et al.
Essays in Biochemistry, 2021
A mutant form of ERα associated with estrogen insensitivity affects the coupling between ligand binding and coactivator recruitment.
Li Y et al.
Science Signaling, 2020
ESR1 Mutations Associated With Estrogen Insensitivity Syndrome Change Conformation of Ligand-Receptor Complex and Altered Transcriptome Profile.
Li Y et al.
Endocrinology, 2020
Long-Term Follow-Up and Treatment of a Female With Complete Estrogen Insensitivity.
Brakta S et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Genetic disorders of nuclear receptors.
Achermann JC et al.
The Journal of Clinical Investigation, 2017
In silico characterization of functional SNP within the oestrogen receptor gene.
Rebaï M et al.
Journal of Genetics, 2016
Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant.
Quaynor SD et al.
The New England Journal of Medicine, 2013
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