Bagheri Fam S, Ono M, Li L, Zhao L, Ryan J, Lai R, et al
. FGFR2 mutation in 46,XY sex reversal with craniosynostosis. Hum Mol Genet. 2015;24:6699-710 pubmed publisher
..In summary, this study identifies the first FGFR2 mutation in a 46,XY GD patient. We conclude that, in certain rare genetic contexts, maintaining normal levels of FGFR2 signaling is important for human testis determination. ..
León N, Reyes A, Harley V. Differences of sex development: the road to diagnosis. Lancet Diabetes Endocrinol. 2019;: pubmed publisher
..We appraise established and emerging technologies and their effect on diagnosis, and discuss current controversies. ..
Loke H, Harley V, Lee J. Biological factors underlying sex differences in neurological disorders. Int J Biochem Cell Biol. 2015;65:139-50 pubmed publisher
Alankarage D, Lavery R, Svingen T, Kelly S, Ludbrook L, Bagheri Fam S, et al
. SOX9 regulates expression of the male fertility gene Ets variant factor 5 (ETV5) during mammalian sex development. Int J Biochem Cell Biol. 2016;79:41-51 pubmed publisher
..In conclusion, we present a novel target gene of SOX9 in the testis, and suggest that SOX9 regulation of ETV5 contributes to the control of male fertility. ..
Sreenivasan R, Gordon C, Benko S, de Iongh R, Bagheri Fam S, Lyonnet S, et al
. Altered SOX9 genital tubercle enhancer region in hypospadias. J Steroid Biochem Mol Biol. 2017;170:28-38 pubmed publisher
..To conclude, we have identified a novel regulatory enhancer driving Sox9 expression during external genitalia development. ..
Symon A, Harley V. SOX9: A genomic view of tissue specific expression and action. Int J Biochem Cell Biol. 2017;87:18-22 pubmed publisher
..SOX9 binding proximal to promoters controls basal cell activity whereas cell type specificity is directed from distal enhancers. ..