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Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, Mullikin JC; NISC Comparative Sequencing Program; Biesecker LG, Wilson TE, Ionasescu V, Nicholson G, Searby C, Talbot K, Vance JM, Züchner S, Szigeti K, Lupski JR, Hou YM, Green ED, Antonellis A. McLaughlin HM, et al. Among authors: antonellis a. Am J Hum Genet. 2010 Oct 8;87(4):560-6. doi: 10.1016/j.ajhg.2010.09.008. Am J Hum Genet. 2010. PMID: 20920668 Free PMC article.
A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.
Antonellis A, Dennis MY, Burzynski G, Huynh J, Maduro V, Hodonsky CJ, Khajavi M, Szigeti K, Mukkamala S, Bessling SL, Pavan WJ, McCallion AS, Lupski JR, Green ED; NISC Comparative Sequencing Program. Antonellis A, et al. PLoS One. 2010 Dec 16;5(12):e14346. doi: 10.1371/journal.pone.0014346. PLoS One. 2010. PMID: 21179557 Free PMC article.
SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer.
Prasad MK, Reed X, Gorkin DU, Cronin JC, McAdow AR, Chain K, Hodonsky CJ, Jones EA, Svaren J, Antonellis A, Johnson SL, Loftus SK, Pavan WJ, McCallion AS. Prasad MK, et al. Among authors: antonellis a. BMC Dev Biol. 2011 Jun 14;11:40. doi: 10.1186/1471-213X-11-40. BMC Dev Biol. 2011. PMID: 21672228 Free PMC article.
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
Simons C, Griffin LB, Helman G, Golas G, Pizzino A, Bloom M, Murphy JL, Crawford J, Evans SH, Topper S, Whitehead MT, Schreiber JM, Chapman KA, Tifft C, Lu KB, Gamper H, Shigematsu M, Taft RJ, Antonellis A, Hou YM, Vanderver A. Simons C, et al. Among authors: antonellis a. Am J Hum Genet. 2015 Apr 2;96(4):675-81. doi: 10.1016/j.ajhg.2015.02.012. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817015 Free PMC article.
92 results