17beta-estradiol (E(2)) binds estrogen receptor alpha (ESR1) in MCF-7 cells and increases cell proliferation and survival through induction or repression of multiple genes. ESR1 interactions with DNA-bound specificity protein (SP) transcription factors is a nonclassical genomic estrogenic pathway and the role of SP transcription factors in mediating hormone-dependent activation or repression of...

OBJECTIVE To investigate whether polymorphisms in the estrogen receptor alpha (ESR1) and beta (ESR2) genes were a risk factor for open-angle glaucoma (OAG). METHODS Participants 55 years and older from the population-based Rotterdam Study underwent, at baseline and at follow-up, the same ophthalmic examination, including visual field screening and stereo optic disc photography. A diagnosis of...

Estrogen plays a crucial role in fetal and placental development through estrogen receptors. Association of estrogen receptor alpha gene (ESR1) polymorphisms with spontaneous abortion has been shown in some studies. Our main goal was to study the potential association of spontaneous abortion with the ESR1 gene variations (PvuII and XbaI) in fetal tissue. Totally, 161 samples were recruited incl...

Numerous studies have evaluated the association between estrogen receptor alpha (ESR1) gene PvuII polymorphism and fracture risk in postmenopausal women. However, the results have been inconsistent. We performed a meta-analysis to examine the association between the ESR1 gene PvuII polymorphism and fracture risk in postmenopausal women. Studies published from PubMed, Google Scholar, and China N...

Estrogen receptor gene (ESR) which is localized in the swine chromosome 1, has been recognized as a “candidate” gene of reproductive traits. The aim of this study was to determine the mutations in the ESR/AvaI (ESR1) and ESR/PvuII (ESR2) gene in boars kept at the AI Station and its effect on selected quantitative and qualitative characters of the semen. The study included 217 boars maintained a...

The evolution of behavior relies on changes at the level of the genome; yet the ability to attribute a behavioral change to a specific, naturally occurring genetic change is rare in vertebrates. In the white-throated sparrow (Zonotrichia albicollis), a chromosomal polymorphism (ZAL2/2(m)) is known to segregate with a behavioral phenotype. Individuals with the ZAL2(m) haplotype engage in more te...

The Transcription factor BarH like homeobox 1 (BARHL1) is overexpressed in medulloblastoma and plays a role in neurogenesis. However, much about the BARHL1 regulatory networks and their functions in neurodegenerative and neoplastic disorders is not yet known. In this study, using a tissue microarray (TMA), we report for the first time that BARHL1 is downregulated in hormone-negative breast canc...

UNLABELLED Multiple Sclerosis (MS) is a central nervous system (CNS) chronic inflammatory demyelinating disease leading to various neurological disabilities. The disorder is more prevalent for women with a ratio of 3:2 female to male. OBJECTIVES To investigate variation within the estrogen receptor 1 (ESR1) polymorphism gene in an Australian MS case-control population using two intragenic res...