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S. C. Hu, Ye, J., Fathi, A. K., Fu, X., Huang, S., Ning, Q., and Luo, X. P., Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism, vol. 11, pp. 4575-4584, 2012.
Achermann JC, Meeks JJ and Jameson JL (2001). Phenotypic spectrum of mutations in DAX-1 and SF-1. Mol. Cell. Endocrinol. 185: 17-25.   Achermann JC, Ozisik G, Ito M, Orun UA, et al. (2002). Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. J. Clin. Endocrinol. Metab. 87: 1829-1833. PMid:11932325   Atchison FW and Means AR (2003). Spermatogonial depletion in adult Pin1-deficient mice. Biol. Reprod. 69: 1989-1997. PMid:12930711   Balasubramanian R, Dwyer A, Seminara SB, Pitteloud N, et al. (2010). Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons. Neuroendocrinology 92: 81-99. PMid:20606386 PMCid:3214927   Benayoun BA and Veitia RA (2009). A post-translational modification code for transcription factors: sorting through a sea of signals. Trends Cell Biol. 19: 189-197. PMid:19328693   Chen WY, Weng JH, Huang CC and Chung BC (2007). Histone deacetylase inhibitors reduce steroidogenesis through SCF-mediated ubiquitination and degradation of steroidogenic factor 1 (NR5A1). Mol. Cell. Biol. 27: 7284-7290. PMid:17709382 PMCid:2168912   Coutant R, Mallet D, Lahlou N, Bouhours-Nouet N, et al. (2007). Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome. J. Clin. Endocrinol. Metab. 92: 2868-2873. PMid:17488792   Crowley WF Jr, Pitteloud N and Seminara S (2008). New genes controlling human reproduction and how you find them. Trans. Am. Clin. Climatol. Assoc. 119: 29-37. PMid:18596868 PMCid:2394706   Hardelin JP and Dode C (2008). The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al. Sex. Dev. 2: 181-193. PMid:18987492   Ingraham HA, Lala DS, Ikeda Y, Luo X, et al. (1994). The nuclear receptor steroidogenic factor 1 acts at multiple levels of the reproductive axis. Genes Dev. 8: 2302-2312. PMid:7958897   Kohler B, Lin L, Ferraz-de-Souza B, Wieacker P, et al. (2008). Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Hum. Mutat. 29: 59-64. PMid:17694559 PMCid:2359628   Layman LC (2007). Hypogonadotropic hypogonadism. Endocrinol. Metab. Clin. North Am. 36: 283-296. PMid:17543719   Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, et al. (2007). Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J. Clin. Endocrinol. Metab. 92: 991-999. PMid:17200175 PMCid:1872053   Lourenco D, Brauner R, Lin L, De Perdigo A, et al. (2009). Mutations in NR5A1 associated with ovarian insufficiency. N. Engl. J. Med. 360: 1200-1210. PMid:19246354 PMCid:2778147   Lu PJ, Zhou XZ, Liou YC, Noel JP, et al. (2002). Critical role of WW domain phosphorylation in regulating phosphoserine binding activity and Pin1 function. J. Biol. Chem. 277: 2381-2384. PMid:11723108   Luo X, Ikeda Y and Parker KL (1994). A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 77: 481-490.   Ojeda SR, Dubay C, Lomniczi A, Kaidar G, et al. (2010). Gene networks and the neuroendocrine regulation of puberty. Mol. Cell. Endocrinol. 324: 3-11. PMid:20005919 PMCid:2888991   Philibert P, Zenaty D, Lin L, Soskin S, et al. (2007). Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study. Hum. Reprod. 22: 3255-3261. PMid:17940071 PMCid:2990861   Sadovsky Y, Crawford PA, Woodson KG, Polish JA, et al. (1995). Mice deficient in the orphan receptor steroidogenic factor 1 lack adrenal glands and gonads but express P450 side-chain-cleavage enzyme in the placenta and have normal embryonic serum levels of corticosteroids. Proc. Natl. Acad. Sci. U. S. A. 92: 10939-10943. PMid:7479914 PMCid:40546   Schimmer BP and White PC (2010). Minireview: steroidogenic factor 1: its roles in differentiation, development, and disease. Mol. Endocrinol. 24: 1322-1337. PMid:20203099   Schwanzel-Fukuda M (1999). Origin and migration of luteinizing hormone-releasing hormone neurons in mammals. Microsc. Res. Tech. 44: 2-10.<2::AID-JEMT2>3.0.CO;2-4   Shinoda K, Lei H, Yoshii H, Nomura M, et al. (1995). Developmental defects of the ventromedial hypothalamic nucleus and pituitary gonadotroph in the Ftz-F1 disrupted mice. Dev. Dyn. 204: 22-29. PMid:8563022   Wada Y, Okada M, Hasegawa T and Ogata T (2005). Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1. Endocr. J. 52: 445-448. PMid:16127213   Wada Y, Okada M, Fukami M, Sasagawa I, et al. (2006). Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1. Fertil. Steril. 85: 787-790. PMid:16500365   Walsh HE and Shupnik MA (2009). Proteasome regulation of dynamic transcription factor occupancy on the GnRH-stimulated luteinizing hormone beta-subunit promoter. Mol. Endocrinol. 23: 237-250. PMid:19095772 PMCid:2646621   Wray S, Nieburgs A and Elkabes S (1989). Spatiotemporal cell expression of luteinizing hormone-releasing hormone in the prenatal mouse: evidence for an embryonic origin in the olfactory placode. Brain Res. Dev. Brain Res. 46: 309- 318.   Zhao L, Bakke Mand Parker KL (2001). Pituitary-specific knockout of steroidogenic factor 1. Mol. Cell. Endocrinol. 185: 27-32.