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Natural variation of histone modification and its impact on gene expression in the rat genome.
Rintisch C, Heinig M, Bauerfeind A, Schafer S, Mieth C, Patone G, Hummel O, Chen W, Cook S, Cuppen E, Colomé-Tatché M, Johannes F, Jansen RC, Neil H, Werner M, Pravenec M, Vingron M, Hubner N. Rintisch C, et al. Genome Res. 2014 Jun;24(6):942-53. doi: 10.1101/gr.169029.113. Epub 2014 May 2. Genome Res. 2014. PMID: 24793478 Free PMC article.
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.
Hinson JT, Chopra A, Nafissi N, Polacheck WJ, Benson CC, Swist S, Gorham J, Yang L, Schafer S, Sheng CC, Haghighi A, Homsy J, Hubner N, Church G, Cook SA, Linke WA, Chen CS, Seidman JG, Seidman CE. Hinson JT, et al. Among authors: cook sa. Science. 2015 Aug 28;349(6251):982-6. doi: 10.1126/science.aaa5458. Science. 2015. PMID: 26315439 Free PMC article.
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.
Pua CJ, Bhalshankar J, Miao K, Walsh R, John S, Lim SQ, Chow K, Buchan R, Soh BY, Lio PM, Lim J, Schafer S, Lim JQ, Tan P, Whiffin N, Barton PJ, Ware JS, Cook SA. Pua CJ, et al. Among authors: cook sa. J Cardiovasc Transl Res. 2016 Feb;9(1):3-11. doi: 10.1007/s12265-016-9673-5. Epub 2016 Feb 17. J Cardiovasc Transl Res. 2016. PMID: 26888179 Free PMC article.
Wars2 is a determinant of angiogenesis.
Wang M, Sips P, Khin E, Rotival M, Sun X, Ahmed R, Widjaja AA, Schafer S, Yusoff P, Choksi PK, Ko NS, Singh MK, Epstein D, Guan Y, Houštěk J, Mracek T, Nuskova H, Mikell B, Tan J, Pesce F, Kolar F, Bottolo L, Mancini M, Hubner N, Pravenec M, Petretto E, MacRae C, Cook SA. Wang M, et al. Among authors: cook sa. Nat Commun. 2016 Jul 8;7:12061. doi: 10.1038/ncomms12061. Nat Commun. 2016. PMID: 27389904 Free PMC article.
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: cook sa. 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.
Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.
Heinig M, Adriaens ME, Schafer S, van Deutekom HWM, Lodder EM, Ware JS, Schneider V, Felkin LE, Creemers EE, Meder B, Katus HA, Rühle F, Stoll M, Cambien F, Villard E, Charron P, Varro A, Bishopric NH, George AL Jr, Dos Remedios C, Moreno-Moral A, Pesce F, Bauerfeind A, Rüschendorf F, Rintisch C, Petretto E, Barton PJ, Cook SA, Pinto YM, Bezzina CR, Hubner N. Heinig M, et al. Among authors: cook sa. Genome Biol. 2017 Sep 14;18(1):170. doi: 10.1186/s13059-017-1286-z. Genome Biol. 2017. PMID: 28903782 Free PMC article.
IL-11 is a crucial determinant of cardiovascular fibrosis.
Schafer S, Viswanathan S, Widjaja AA, Lim WW, Moreno-Moral A, DeLaughter DM, Ng B, Patone G, Chow K, Khin E, Tan J, Chothani SP, Ye L, Rackham OJL, Ko NSJ, Sahib NE, Pua CJ, Zhen NTG, Xie C, Wang M, Maatz H, Lim S, Saar K, Blachut S, Petretto E, Schmidt S, Putoczki T, Guimarães-Camboa N, Wakimoto H, van Heesch S, Sigmundsson K, Lim SL, Soon JL, Chao VTT, Chua YL, Tan TE, Evans SM, Loh YJ, Jamal MH, Ong KK, Chua KC, Ong BH, Chakaramakkil MJ, Seidman JG, Seidman CE, Hubner N, Sin KYK, Cook SA. Schafer S, et al. Among authors: cook sa. Nature. 2017 Dec 7;552(7683):110-115. doi: 10.1038/nature24676. Epub 2017 Nov 13. Nature. 2017. PMID: 29160304 Free PMC article.
359 results