Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study

16 Oct 2007

Abstract excerpt

BACKGROUND Steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a nuclear receptor transcription factor that plays a key role in regulating adrenal and gonadal development, steroidogenesis and reproduction. Recently, haploinsufficiency of SF1 has been described in several 46,XY individuals with mild gonadal dysgenesis and impaired androgenization, but normal adrenal function, suggesting that dosage-sensitive or...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Sexual Differentiation and Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Sperm and Testicular Function

Source

Identifiers

PMID: 17940071
DOI: 10.1093/humrep/dem278

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative studyPMID 17940071Read ↗

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.Semantic proximity Read ↗

Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males.Semantic proximity Read ↗

Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1/Ad4BP, NR5A1) Are Associated with 46,XY Disorders of Sex Development with Normal Adrenal FunctionSemantic proximity Read ↗

NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations.Semantic proximity Read ↗

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.Semantic proximity Read ↗

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency.Semantic proximity Read ↗

Mutational screening of NR5A1 gene encoding steroidogenic factor 1 in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations.Semantic proximity Read ↗

Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.Semantic proximity Read ↗

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

Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.Semantic 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 ↗

⌁Select a neighboring publication to make it the new centre.