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Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Rüschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH. Kim HG, et al. Among authors: kim ch. Mol Autism. 2019 Oct 22;10:35. doi: 10.1186/s13229-019-0286-0. eCollection 2019. Mol Autism. 2019. PMID: 31649809 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: kim sh, kim ch, kim ht. 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.
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Kim HG, et al. Among authors: kim ch, kim ht. Am J Hum Genet. 2012 Jul 13;91(1):56-72. doi: 10.1016/j.ajhg.2012.05.005. Epub 2012 Jul 5. Am J Hum Genet. 2012. PMID: 22770980 Free PMC article.
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: kim hg, kim ch, kim sh, kim ht. 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.
Targeted knockout of a chemokine-like gene increases anxiety and fear responses.
Choi JH, Jeong YM, Kim S, Lee B, Ariyasiri K, Kim HT, Jung SH, Hwang KS, Choi TI, Park CO, Huh WK, Carl M, Rosenfeld JA, Raskin S, Ma A, Gecz J, Kim HG, Kim JS, Shin HC, Park DS, Gerlai R, Jamieson BB, Kim JS, Iremonger KJ, Lee SH, Shin HS, Kim CH. Choi JH, et al. Among authors: kim hg, kim ch, kim s, kim js, kim ht. Proc Natl Acad Sci U S A. 2018 Jan 30;115(5):E1041-E1050. doi: 10.1073/pnas.1707663115. Epub 2018 Jan 16. Proc Natl Acad Sci U S A. 2018. PMID: 29339520 Free PMC article.
5,765 results