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Page 1
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.
Oprescu SN, Chepa-Lotrea X, Takase R, Golas G, Markello TC, Adams DR, Toro C, Gropman AL, Hou YM, Malicdan MCV, Gahl WA, Tifft CJ, Antonellis A. Oprescu SN, et al. Among authors: hou ym. Hum Mutat. 2017 Oct;38(10):1412-1420. doi: 10.1002/humu.23287. Epub 2017 Jul 14. Hum Mutat. 2017. PMID: 28675565 Free PMC article.
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: hou ym. 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 recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
McLaughlin HM, Sakaguchi R, Giblin W; NISC Comparative Sequencing Program; Wilson TE, Biesecker L, Lupski JR, Talbot K, Vance JM, Züchner S, Lee YC, Kennerson M, Hou YM, Nicholson G, Antonellis A. McLaughlin HM, et al. Among authors: hou ym. Hum Mutat. 2012 Jan;33(1):244-53. doi: 10.1002/humu.21635. Epub 2011 Nov 9. Hum Mutat. 2012. PMID: 22009580 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: hou ym. 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.
A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.
Falk MJ, Gai X, Shigematsu M, Vilardo E, Takase R, McCormick E, Christian T, Place E, Pierce EA, Consugar M, Gamper HB, Rossmanith W, Hou YM. Falk MJ, et al. Among authors: hou ym. RNA Biol. 2016 May 3;13(5):477-85. doi: 10.1080/15476286.2016.1159381. Epub 2016 Mar 7. RNA Biol. 2016. PMID: 26950678 Free PMC article.
Molecular Basis and Consequences of the Cytochrome c-tRNA Interaction.
Liu C, Stonestrom AJ, Christian T, Yong J, Takase R, Hou YM, Yang X. Liu C, et al. Among authors: hou ym. J Biol Chem. 2016 May 6;291(19):10426-36. doi: 10.1074/jbc.M115.697789. Epub 2016 Mar 9. J Biol Chem. 2016. PMID: 26961879 Free PMC article.
A genetically encoded fluorescent tRNA is active in live-cell protein synthesis.
Masuda I, Igarashi T, Sakaguchi R, Nitharwal RG, Takase R, Han KY, Leslie BJ, Liu C, Gamper H, Ha T, Sanyal S, Hou YM. Masuda I, et al. Among authors: hou ym. Nucleic Acids Res. 2017 Apr 20;45(7):4081-4093. doi: 10.1093/nar/gkw1229. Nucleic Acids Res. 2017. PMID: 27956502 Free PMC article.
TrmD: A Methyl Transferase for tRNA Methylation With m1G37.
Hou YM, Matsubara R, Takase R, Masuda I, Sulkowska JI. Hou YM, et al. Enzymes. 2017;41:89-115. doi: 10.1016/bs.enz.2017.03.003. Epub 2017 Apr 12. Enzymes. 2017. PMID: 28601227 Free PMC article. Review.
Selective terminal methylation of a tRNA wobble base.
Masuda I, Takase R, Matsubara R, Paulines MJ, Gamper H, Limbach PA, Hou YM. Masuda I, et al. Among authors: hou ym. Nucleic Acids Res. 2018 Apr 20;46(7):e37. doi: 10.1093/nar/gky013. Nucleic Acids Res. 2018. PMID: 29361055 Free PMC article.
300 results