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WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.
Kim YJ, Osborn DP, Lee JY, Araki M, Araki K, Mohun T, Känsäkoski J, Brandstack N, Kim HT, Miralles F, Kim CH, Brown NA, Kim HG, Martinez-Barbera JP, Ataliotis P, Raivio T, Layman LC, Kim SH. Kim YJ, et al. Among authors: layman lc. EMBO Rep. 2018 Feb;19(2):269-289. doi: 10.15252/embr.201744632. Epub 2017 Dec 20. EMBO Rep. 2018. PMID: 29263200 Free PMC article.
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC. Kim HG, et al. Among authors: layman lc. Am J Hum Genet. 2008 Oct;83(4):511-9. doi: 10.1016/j.ajhg.2008.09.005. Epub 2008 Oct 2. Am J Hum Genet. 2008. PMID: 18834967 Free PMC article.
NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration.
Xu N, Bhagavath B, Kim HG, Halvorson L, Podolsky RS, Chorich LP, Prasad P, Xiong WC, Cameron RS, Layman LC. Xu N, et al. Among authors: layman lc. Mol Cell Endocrinol. 2010 May 5;319(1-2):47-55. doi: 10.1016/j.mce.2009.11.016. Epub 2009 Dec 16. Mol Cell Endocrinol. 2010. PMID: 20025934 Free PMC article.
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim SH, Kim CH, Ropers HH, Gusella JF, Kalscheuer V, Choi CY, Layman LC. Kim HG, et al. Among authors: layman lc. Am J Hum Genet. 2010 Oct 8;87(4):465-79. doi: 10.1016/j.ajhg.2010.08.018. Am J Hum Genet. 2010. PMID: 20887964 Free PMC article.
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Xu N, Kim HG, Bhagavath B, Cho SG, Lee JH, Ha K, Meliciani I, Wenzel W, Podolsky RH, Chorich LP, Stackhouse KA, Grove AM, Odom LN, Ozata M, Bick DP, Sherins RJ, Kim SH, Cameron RS, Layman LC. Xu N, et al. Among authors: layman lc. Fertil Steril. 2011 Apr;95(5):1613-20.e1-7. doi: 10.1016/j.fertnstert.2011.01.010. Epub 2011 Feb 15. Fertil Steril. 2011. PMID: 21300340 Free PMC article.
131 results