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Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic-Milacic M, Lionel AC, Sato D, Pinto D, Drmic I, Noakes C, Senman L, Zhang X, Mo R, Gauthier J, Crosbie J, Pagnamenta AT, Munson J, Estes AM, Fiebig A, Franke A, Schreiber S, Stewart AF, Roberts R, McPherson R, Guter SJ, Cook EH Jr, Dawson G, Schellenberg GD, Battaglia A, Maestrini E; Autism Genome Project Consortium; Jeng L, Hutchison T, Rajcan-Separovic E, Chudley AE, Lewis SM, Liu X, Holden JJ, Fernandez B, Zwaigenbaum L, Bryson SE, Roberts W, Szatmari P, Gallagher L, Stratton MR, Gecz J, Brady AF, Schwartz CE, Schachar RJ, Monaco AP, Rouleau GA, Hui CC, Lucy Raymond F, Scherer SW, Vincent JB. Noor A, et al. Among authors: zhang x. Sci Transl Med. 2010 Sep 15;2(49):49ra68. doi: 10.1126/scitranslmed.3001267. Sci Transl Med. 2010. PMID: 20844286 Free PMC article.
Mutations in SUFU predispose to medulloblastoma.
Taylor MD, Liu L, Raffel C, Hui CC, Mainprize TG, Zhang X, Agatep R, Chiappa S, Gao L, Lowrance A, Hao A, Goldstein AM, Stavrou T, Scherer SW, Dura WT, Wainwright B, Squire JA, Rutka JT, Hogg D. Taylor MD, et al. Among authors: zhang x. Nat Genet. 2002 Jul;31(3):306-10. doi: 10.1038/ng916. Epub 2002 Jun 17. Nat Genet. 2002. PMID: 12068298
T396I mutation of mouse Sufu reduces the stability and activity of Gli3 repressor.
Makino S, Zhulyn O, Mo R, Puviindran V, Zhang X, Murata T, Fukumura R, Ishitsuka Y, Kotaki H, Matsumaru D, Ishii S, Hui CC, Gondo Y. Makino S, et al. Among authors: zhang x. PLoS One. 2015 Mar 11;10(3):e0119455. doi: 10.1371/journal.pone.0119455. eCollection 2015. PLoS One. 2015. PMID: 25760946 Free PMC article.
169,317 results
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