Ontology highlight
ABSTRACT:
SUBMITTER: Ferraz-de-Souza B
PROVIDER: S-EPMC3057017 | biostudies-literature | 2011 Apr
REPOSITORIES: biostudies-literature
Ferraz-de-Souza Bruno B Lin Lin L Achermann John C JC
Molecular and cellular endocrinology 20101113 1-2
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 SF-1 were found in two such cases, disruption of SF-1 is not commonly found in patients ...[more]