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Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.
Song W, Dyer E, Stuckey DJ, Copeland O, Leung MC, Bayliss C, Messer A, Wilkinson R, Tremoleda JL, Schneider MD, Harding SE, Redwood CS, Clarke K, Nowak K, Monserrat L, Wells D, Marston SB. Song W, et al. Among authors: nowak k. J Biol Chem. 2011 Aug 5;286(31):27582-93. doi: 10.1074/jbc.M111.252320. Epub 2011 May 26. J Biol Chem. 2011. PMID: 21622575 Free PMC article.
Investigation of a transgenic mouse model of familial dilated cardiomyopathy.
Song W, Dyer E, Stuckey D, Leung MC, Memo M, Mansfield C, Ferenczi M, Liu K, Redwood C, Nowak K, Harding S, Clarke K, Wells D, Marston S. Song W, et al. Among authors: nowak k. J Mol Cell Cardiol. 2010 Sep;49(3):380-9. doi: 10.1016/j.yjmcc.2010.05.009. Epub 2010 Jun 17. J Mol Cell Cardiol. 2010. PMID: 20600154
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.
Donkervoort S, Papadaki M, de Winter JM, Neu MB, Kirschner J, Bolduc V, Yang ML, Gibbons MA, Hu Y, Dastgir J, Leach ME, Rutkowski A, Foley AR, Krüger M, Wartchow EP, McNamara E, Ong R, Nowak KJ, Laing NG, Clarke NF, Ottenheijm C, Marston SB, Bönnemann CG. Donkervoort S, et al. Among authors: nowak kj. Ann Neurol. 2015 Dec;78(6):982-994. doi: 10.1002/ana.24535. Epub 2015 Nov 13. Ann Neurol. 2015. PMID: 26418456 Free PMC article.
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.
Jain RK, Jayawant S, Squier W, Muntoni F, Sewry CA, Manzur A, Quinlivan R, Lillis S, Jungbluth H, Sparrow JC, Ravenscroft G, Nowak KJ, Memo M, Marston SB, Laing NG. Jain RK, et al. Among authors: nowak kj. Neurology. 2012 Apr 3;78(14):1100-3. doi: 10.1212/WNL.0b013e31824e8ebe. Epub 2012 Mar 21. Neurology. 2012. PMID: 22442437 No abstract available.
1,045 results