Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.S554fs
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ESR1

NM_000125.4:p.S554fs

Associated Papers

Estrogen-occupied estrogen receptor represses cyclin G2 gene expression and recruits a repressor complex at the cyclin G2 promoter.

Stossi F et al.

The Journal of Biological Chemistry, 2006

Mutual repression of transcriptional activation between the ETS-related factor ERG and estrogen receptor.

Vlaeminck-Guillem V et al.

Oncogene, 2003

Mutation of Leu-536 in human estrogen receptor-alpha alters the coupling between ligand binding, transcription activation, and receptor conformation.

Zhao C et al.

The Journal of Biological Chemistry, 2003

Contribution of estrogen receptor alpha to oncogenic K-Ras-mediated NIH3T3 cell transformation and its implication for escape from senescence by modulating the p53 pathway.

Kato K et al.

The Journal of Biological Chemistry, 2002

Transcriptional regulation of the human quinone reductase gene by antiestrogen-liganded estrogen receptor-alpha and estrogen receptor-beta.

Montano MM et al.

The Journal of Biological Chemistry, 1998

A transcriptionally active estrogen receptor mutant is a novel type of dominant negative inhibitor of estrogen action.

McInerney EM et al.

Molecular Endocrinology (baltimore, Md.), 1996

Analysis of mechanisms that determine dominant negative estrogen receptor effectiveness.

Schodin DJ et al.

The Journal of Biological Chemistry, 1995

The carboxy-terminal F domain of the human estrogen receptor: role in the transcriptional activity of the receptor and the effectiveness of antiestrogens as estrogen antagonists.

Montano MM et al.

Molecular Endocrinology (baltimore, Md.), 1995

Structure-function analysis of the hormone binding domain of the human estrogen receptor by region-specific mutagenesis and phenotypic screening in yeast.

Wrenn CK et al.

The Journal of Biological Chemistry, 1993

Powerful dominant negative mutants of the human estrogen receptor.

Ince BA et al.

The Journal of Biological Chemistry, 1993

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."