Estrogen receptor mutations.

Abstract:

:The purpose of this paper is to review potential novel functional pathways by which estradiol and estrogenic compounds elicit biological responses in mammals. We will limit our approach to those novel functions suggested by phenotypes associated with estrogen receptor-alpha (ER alpha) gene mutations and polymorphisms. The study of these pathways has been greatly aided by the availability of ER alpha-minus mice, which lack classic biological responses to estradiol. In addition, the availability of an ER alpha-minus human family, aromatase-minus human families, and in the near future an aromatase-minus mouse model will allow correlations of novel phenotypes with the lack of active ER alpha protein. The ER alpha-minus mice can potentially be used to characterize in depth novel clinical phenotypes that link the functions of estrogens with sexual maturation, cardiovascular disease, osteoporosis, diabetes, and cancer.

journal_name

Mol Cell Endocrinol

authors

Taylor JA,Lewis KJ,Lubahn DB

doi

10.1016/s0303-7207(98)00170-1

subject

Has Abstract

pub_date

1998-10-25 00:00:00

pages

61-6

issue

1-2

eissn

0303-7207

issn

1872-8057

pii

S0303-7207(98)00170-1

journal_volume

145

pub_type

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