Functional characterization of somatic point mutations of the human estrogen receptor α (hERα) in adenomyosis uteri

• Published in: Molecular human reproduction Vol. 10; no. 12; pp. 853 - 860
• Main Authors: Oehler, Martin K., Greschik, Holger, Fischer, Dagmar-C., Tong, Xiaowen, Schuele, Roland, Kieback, Dirk G.
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.12.2004
• Subjects: adenomyosis uteri; Amino Acid Substitution; Animals; Biological and medical sciences; Cell Line; DNA-Binding Proteins - drug effects; DNA-Binding Proteins - genetics; DNA-Binding Proteins - physiology; Electrophoretic Mobility Shift Assay; Embryology: invertebrates and vertebrates. Teratology; endometriosis; Endometriosis - genetics; Endometriosis - metabolism; Estrogen Receptor alpha - drug effects; Estrogen Receptor alpha - genetics; Estrogen Receptor alpha - physiology; Female; Fundamental and applied biological sciences. Psychology; human estrogen receptor alpha; Humans; Point Mutation - genetics; Protein Structure, Secondary - genetics; Protein Structure, Tertiary - genetics; somatic mutation; steroid receptor; Transcription, Genetic; Transfection; Uterine Diseases - genetics; Uterine Diseases - metabolism; Characterization; Human; Somatic mutation; Estrogen receptor α; Estrogen receptor; adenomyosis uteri/endometriosis/human estrogen receptor alpha/somatic mutation/steroid receptor; Uterine diseases; Endometriosis; Steroid hormone receptor; Female genital diseases; Hormonal receptor

Endometriosis and adenomyosis uteri are chronic, benign diseases caused by the presence of endometrial tissue in ectopic locations, e.g. peritoneal or deep inside the myometrial wall of the uterus and/or in the rectovaginal septum. Although adenomyosis might be considered as a special form of endome...