Publications

Found 2 results
Filters: Author is Q. Ning  [Clear All Filters]
2012
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. http://dx.doi.org/10.1016/S0303-7207(01)00619-0   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. http://dx.doi.org/10.1210/jc.87.4.1829 PMid:11932325   Atchison FW and Means AR (2003). Spermatogonial depletion in adult Pin1-deficient mice. Biol. Reprod. 69: 1989-1997. http://dx.doi.org/10.1095/biolreprod.103.020859 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. http://dx.doi.org/10.1159/000314193 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. http://dx.doi.org/10.1016/j.tcb.2009.02.003 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. http://dx.doi.org/10.1128/MCB.00476-07 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. http://dx.doi.org/10.1210/jc.2007-0024 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. http://dx.doi.org/10.1159/000152034 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. http://dx.doi.org/10.1101/gad.8.19.2302 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. http://dx.doi.org/10.1002/humu.20588 PMid:17694559 PMCid:2359628   Layman LC (2007). Hypogonadotropic hypogonadism. Endocrinol. Metab. Clin. North Am. 36: 283-296. http://dx.doi.org/10.1016/j.ecl.2007.03.010 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. http://dx.doi.org/10.1210/jc.2006-1672 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. http://dx.doi.org/10.1056/NEJMoa0806228 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. http://dx.doi.org/10.1074/jbc.C100228200 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. http://dx.doi.org/10.1016/0092-8674(94)90211-9   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. http://dx.doi.org/10.1016/j.mce.2009.12.003 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. http://dx.doi.org/10.1093/humrep/dem278 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. http://dx.doi.org/10.1073/pnas.92.24.10939 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. http://dx.doi.org/10.1210/me.2009-0519 PMid:20203099   Schwanzel-Fukuda M (1999). Origin and migration of luteinizing hormone-releasing hormone neurons in mammals. Microsc. Res. Tech. 44: 2-10. http://dx.doi.org/10.1002/(SICI)1097-0029(19990101)44:1<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. http://dx.doi.org/10.1002/aja.1002040104 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. http://dx.doi.org/10.1507/endocrj.52.445 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. http://dx.doi.org/10.1016/j.fertnstert.2005.09.016 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. http://dx.doi.org/10.1210/me.2008-0098 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. http://dx.doi.org/10.1016/0165-3806(89)90295-2   Zhao L, Bakke Mand Parker KL (2001). Pituitary-specific knockout of steroidogenic factor 1. Mol. Cell. Endocrinol. 185: 27-32. http://dx.doi.org/10.1016/S0303-7207(01)00621-9