Steroidogenic factor-1 (SF-1, NR5A1) and human disease
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Molecular Biology,Biochemistry
Reference49 articles.
1. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans;Achermann;Nat. Genet.,1999
2. Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner;Achermann;J. Clin. Endocrinol. Metab.,2002
3. Steroidogenic factor-1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults;Almeida;J. Clin. Endocrinol. Metab.,2010
4. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1;Bashamboo;Am. J. Hum. Genet.,2010
5. Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency;Biason-Lauber;Am. J. Hum. Genet.,2000
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