Associated Papers
A missense mutation in NR5A1 causing female to male sex reversal: A case report.
Askari M et al.
Andrologia, 2020
SF-1 deficiency causes lipid accumulation in Leydig cells via suppression of STAR and CYP11A1.
Hatano M et al.
Endocrine, 2016
Testicular differentiation factor SF-1 is required for human spleen development.
Zangen D et al.
The Journal of Clinical Investigation, 2014
Steroidogenic factor-1 and human disease.
El-Khairi R et al.
Seminars in Reproductive Medicine, 2012
Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.
Knower KC et al.
Plos One, 2011
Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.
El-Khairi R et al.
Endocrine Development, 2011
Phenotypic variation of SF1 gene mutations.
Philibert P et al.
Advances in Experimental Medicine and Biology, 2011
[SF-1, a key player in adrenal and gonadal differentiation: implications in gonadal dysgenesis and primary ovarian insufficiency].
Martinerie L et al.
Annales D'endocrinologie, 2009
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.
Köhler B et al.
European Journal of Endocrinology, 2009
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
Köhler B et al.
Human Mutation, 2008
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
Philibert P et al.
Human Reproduction (oxford, England), 2007
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
Lin L et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
Lin L et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.
Hasegawa T et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency.
Mallet D et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Congenital adrenal hypoplasia and male pseudohermaphroditism due to DAX1 mutation, SF1 mutation or neither: a patient report.
AvRuskin TW et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2004
Characterization of binding between SF-1 and Sp1: predominant interaction of SF-1 with the N-terminal region of Sp1.
Sugawara T et al.
Journal of Endocrinological Investigation, 2004
SF1 in the development of the adrenal gland and gonads.
Ozisik G et al.
Hormone Research, 2003
Genetic causes of human reproductive disease.
Achermann JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2002