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Article

Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.

Endocrine development - 1 Jan 2011

El-Khairi Ranna, Martinez-Aguayo Alejandro, Ferraz-de-Souza Bruno, Lin Lin, Achermann John C

Abstract excerpt

The nuclear receptor transcription factors DAX-1 (NR0B1) and SF-1 (NR5A1) regulate many aspects of adrenal and reproductive development and function. Disruption of the genes encoding these factors can be associated with pediatric adrenal disease. DAX-1 mutations are classically associated with X-linked adrenal hypoplasia congenita, hypogonadotropic hypogonadism and impaired spermatogenesis. However, other...

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PMID: 21164257
DOI: 10.1159/000321213

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.PMID 21164257Read ↗

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.Semantic proximity Read ↗

Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years’ ExperienceSemantic proximity Read ↗

Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development.Semantic proximity Read ↗

Steroidogenic factor-1 (SF-1, NR5A1) and human disease.Semantic proximity Read ↗

Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.Semantic proximity Read ↗

Steroidogenic factor-1 and human disease.Semantic proximity Read ↗

Phenotypic spectrum of mutations in DAX-1 and SF-1.Semantic proximity Read ↗

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.Semantic proximity Read ↗

DAX-1, an Unusual Orphan Receptor at the Crossroads of Steroidogenic Function and Sexual DifferentiationSemantic proximity Read ↗

Hypogonadotropic hypogonadism in subjects with DAX1 mutations.Semantic proximity Read ↗

Update--steroidogenic factor 1 (SF-1, NR5A1).Semantic proximity Read ↗

X-linked Congenital Adrenal Hypoplasia with a Novel NR0B1/DAX Gene Mutation.Semantic proximity Read ↗

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