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Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes.
Streckfuss-Bömeke K, Tiburcy M, Fomin A, Luo X, Li W, Fischer C, Özcelik C, Perrot A, Sossalla S, Haas J, Vidal RO, Rebs S, Khadjeh S, Meder B, Bonn S, Linke WA, Zimmermann WH, Hasenfuss G, Guan K. Streckfuss-Bömeke K, et al. Among authors: ozcelik c. J Mol Cell Cardiol. 2017 Dec;113:9-21. doi: 10.1016/j.yjmcc.2017.09.008. Epub 2017 Sep 21. J Mol Cell Cardiol. 2017. PMID: 28941705 Free article.
Molecular genetics of congenital atrial septal defects.
Posch MG, Perrot A, Berger F, Ozcelik C. Posch MG, et al. Among authors: ozcelik c. Clin Res Cardiol. 2010 Mar;99(3):137-47. doi: 10.1007/s00392-009-0095-0. Epub 2009 Dec 11. Clin Res Cardiol. 2010. PMID: 20012542 Free PMC article. Review.
CCN1 mutation is associated with atrial septal defect.
Perrot A, Schmitt KR, Roth EM, Stiller B, Posch MG, Browne EN, Timmann C, Horstmann RD, Berger F, Özcelik C. Perrot A, et al. Among authors: ozcelik c. Pediatr Cardiol. 2015 Feb;36(2):295-9. doi: 10.1007/s00246-014-1001-8. Epub 2014 Aug 19. Pediatr Cardiol. 2015. PMID: 25135600
Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart.
Auxerre-Plantié E, Nielsen T, Grunert M, Olejniczak O, Perrot A, Özcelik C, Harries D, Matinmehr F, Dos Remedios C, Mühlfeld C, Kraft T, Bodmer R, Vogler G, Sperling SR. Auxerre-Plantié E, et al. Among authors: ozcelik c. Dis Model Mech. 2020 Dec 18;13(12):dmm045377. doi: 10.1242/dmm.045377. Dis Model Mech. 2020. PMID: 33033063 Free PMC article.
RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.
Guo W, Schafer S, Greaser ML, Radke MH, Liss M, Govindarajan T, Maatz H, Schulz H, Li S, Parrish AM, Dauksaite V, Vakeel P, Klaassen S, Gerull B, Thierfelder L, Regitz-Zagrosek V, Hacker TA, Saupe KW, Dec GW, Ellinor PT, MacRae CA, Spallek B, Fischer R, Perrot A, Özcelik C, Saar K, Hubner N, Gotthardt M. Guo W, et al. Among authors: ozcelik c. Nat Med. 2012 May;18(5):766-73. doi: 10.1038/nm.2693. Nat Med. 2012. PMID: 22466703 Free PMC article.
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
Geier C, Gehmlich K, Ehler E, Hassfeld S, Perrot A, Hayess K, Cardim N, Wenzel K, Erdmann B, Krackhardt F, Posch MG, Osterziel KJ, Bublak A, Nägele H, Scheffold T, Dietz R, Chien KR, Spuler S, Fürst DO, Nürnberg P, Ozcelik C. Geier C, et al. Among authors: ozcelik c. Hum Mol Genet. 2008 Sep 15;17(18):2753-65. doi: 10.1093/hmg/ddn160. Epub 2008 May 27. Hum Mol Genet. 2008. PMID: 18505755
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