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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. Among authors: schafer s. 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.
Genomic landscape of rat strain and substrain variation.
Hermsen R, de Ligt J, Spee W, Blokzijl F, Schäfer S, Adami E, Boymans S, Flink S, van Boxtel R, van der Weide RH, Aitman T, Hübner N, Simonis M, Tabakoff B, Guryev V, Cuppen E. Hermsen R, et al. Among authors: schafer s. BMC Genomics. 2015 May 6;16(1):357. doi: 10.1186/s12864-015-1594-1. BMC Genomics. 2015. PMID: 25943489 Free PMC article.
The GYF domain protein CD2BP2 is critical for embryogenesis and podocyte function.
Albert GI, Schell C, Kirschner KM, Schäfer S, Naumann R, Müller A, Kretz O, Kuropka B, Girbig M, Hübner N, Krause E, Scholz H, Huber TB, Knobeloch KP, Freund C. Albert GI, et al. Among authors: schafer s. J Mol Cell Biol. 2015 Oct;7(5):402-14. doi: 10.1093/jmcb/mjv039. Epub 2015 Jun 16. J Mol Cell Biol. 2015. PMID: 26082520
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: schafer s. Science. 2015 Aug 28;349(6251):982-6. doi: 10.1126/science.aaa5458. Science. 2015. PMID: 26315439 Free PMC article.
A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.
Beqqali A, Bollen IA, Rasmussen TB, van den Hoogenhof MM, van Deutekom HW, Schafer S, Haas J, Meder B, Sørensen KE, van Oort RJ, Mogensen J, Hubner N, Creemers EE, van der Velden J, Pinto YM. Beqqali A, et al. Among authors: schafer s. Cardiovasc Res. 2016 Oct;112(1):452-63. doi: 10.1093/cvr/cvw192. Epub 2016 Aug 5. Cardiovasc Res. 2016. PMID: 27496873
1,131 results