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Titin-truncating variants affect heart function in disease cohorts and the general population.
Schafer S, de Marvao A, Adami E, Fiedler LR, Ng B, Khin E, Rackham OJ, van Heesch S, Pua CJ, Kui M, Walsh R, Tayal U, Prasad SK, Dawes TJ, Ko NS, Sim D, Chan LL, Chin CW, Mazzarotto F, Barton PJ, Kreuchwig F, de Kleijn DP, Totman T, Biffi C, Tee N, Rueckert D, Schneider V, Faber A, Regitz-Zagrosek V, Seidman JG, Seidman CE, Linke WA, Kovalik JP, O'Regan D, Ware JS, Hubner N, Cook SA. Schafer S, et al. Among authors: kovalik jp. Nat Genet. 2017 Jan;49(1):46-53. doi: 10.1038/ng.3719. Epub 2016 Nov 21. Nat Genet. 2017. PMID: 27869827 Free PMC article.
Muscle-specific deletion of carnitine acetyltransferase compromises glucose tolerance and metabolic flexibility.
Muoio DM, Noland RC, Kovalik JP, Seiler SE, Davies MN, DeBalsi KL, Ilkayeva OR, Stevens RD, Kheterpal I, Zhang J, Covington JD, Bajpeyi S, Ravussin E, Kraus W, Koves TR, Mynatt RL. Muoio DM, et al. Among authors: kovalik jp. Cell Metab. 2012 May 2;15(5):764-77. doi: 10.1016/j.cmet.2012.04.005. Cell Metab. 2012. PMID: 22560225 Free PMC article.
Changes in Hepatic TRβ Protein Expression, Lipogenic Gene Expression, and Long-Chain Acylcarnitine Levels During Chronic Hyperthyroidism and Triiodothyronine Withdrawal in a Mouse Model.
Ohba K, Sinha RA, Singh BK, Iannucci LF, Zhou J, Kovalik JP, Liao XH, Refetoff S, Sng JCG, Leow MK, Yen PM. Ohba K, et al. Among authors: kovalik jp. Thyroid. 2017 Jun;27(6):852-860. doi: 10.1089/thy.2016.0456. Epub 2017 May 24. Thyroid. 2017. PMID: 28457184 Free PMC article.
74 results