Article
Steroidogenic factor-1 (SF-1, NR5A1) and human disease.
Molecular and cellular endocrinology - 10 Apr 2011
Ferraz-de-Souza Bruno, Lin Lin, Achermann John C
Abstract excerpt
Steroidogenic factor-1 (SF-1, Ad4BP, encoded by NR5A1) is a key regulator of adrenal and reproductive development and function. Based upon the features found in Nr5a1 null mice, initial attempts to identify SF-1 changes in humans focused on those rare individuals with primary adrenal failure, a 46,XY karyotype, complete gonadal dysgenesis and Müllerian structures. Although alterations affecting DNA-binding of...
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