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268 results

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Page 1
Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.
McRae HM, Leong MPY, Bergamasco MI, Garnham AL, Hu Y, Corbett MA, Whitehead L, El-Saafin F, Sheikh BN, Wilcox S, Hannan AJ, Gécz J, Smyth GK, Thomas T, Voss AK. McRae HM, et al. Among authors: smyth gk. PLoS Genet. 2024 Oct 15;20(10):e1011428. doi: 10.1371/journal.pgen.1011428. eCollection 2024 Oct. PLoS Genet. 2024. PMID: 39405291 Free PMC article.
Molecular networks involved in mouse cerebral corticogenesis and spatio-temporal regulation of Sox4 and Sox11 novel antisense transcripts revealed by transcriptome profiling.
Ling KH, Hewitt CA, Beissbarth T, Hyde L, Banerjee K, Cheah PS, Cannon PZ, Hahn CN, Thomas PQ, Smyth GK, Tan SS, Thomas T, Scott HS. Ling KH, et al. Among authors: smyth gk. Genome Biol. 2009;10(10):R104. doi: 10.1186/gb-2009-10-10-r104. Epub 2009 Oct 2. Genome Biol. 2009. PMID: 19799774 Free PMC article.
Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice.
Kraft M, Cirstea IC, Voss AK, Thomas T, Goehring I, Sheikh BN, Gordon L, Scott H, Smyth GK, Ahmadian MR, Trautmann U, Zenker M, Tartaglia M, Ekici A, Reis A, Dörr HG, Rauch A, Thiel CT. Kraft M, et al. Among authors: smyth gk. J Clin Invest. 2011 Sep;121(9):3479-91. doi: 10.1172/JCI43428. Epub 2011 Aug 1. J Clin Invest. 2011. PMID: 21804188 Free PMC article.
Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene.
Leong DW, Komen JC, Hewitt CA, Arnaud E, McKenzie M, Phipson B, Bahlo M, Laskowski A, Kinkel SA, Davey GM, Heath WR, Voss AK, Zahedi RP, Pitt JJ, Chrast R, Sickmann A, Ryan MT, Smyth GK, Thorburn DR, Scott HS. Leong DW, et al. Among authors: smyth gk. J Biol Chem. 2012 Jun 8;287(24):20652-63. doi: 10.1074/jbc.M111.327601. Epub 2012 Apr 25. J Biol Chem. 2012. PMID: 22535952 Free PMC article.
Epigenetic regulator Smchd1 functions as a tumor suppressor.
Leong HS, Chen K, Hu Y, Lee S, Corbin J, Pakusch M, Murphy JM, Majewski IJ, Smyth GK, Alexander WS, Hilton DJ, Blewitt ME. Leong HS, et al. Among authors: smyth gk. Cancer Res. 2013 Mar 1;73(5):1591-9. doi: 10.1158/0008-5472.CAN-12-3019. Epub 2012 Dec 26. Cancer Res. 2013. PMID: 23269277
268 results