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Page 1
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. 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.
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. Nat Med. 2012 May;18(5):766-73. doi: 10.1038/nm.2693. Nat Med. 2012. PMID: 22466703 Free PMC article.
ZBTB17 (MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure.
Buyandelger B, Mansfield C, Kostin S, Choi O, Roberts AM, Ware JS, Mazzarotto F, Pesce F, Buchan R, Isaacson RL, Vouffo J, Gunkel S, Knöll G, McSweeney SJ, Wei H, Perrot A, Pfeiffer C, Toliat MR, Ilieva K, Krysztofinska E, López-Olañeta MM, Gómez-Salinero JM, Schmidt A, Ng KE, Teucher N, Chen J, Teichmann M, Eilers M, Haverkamp W, Regitz-Zagrosek V, Hasenfuss G, Braun T, Pennell DJ, Gould I, Barton PJ, Lara-Pezzi E, Schäfer S, Hübner N, Felkin LE, O'Regan DP, Brand T, Milting H, Nürnberg P, Schneider MD, Prasad S, Petretto E, Knöll R. Buyandelger B, et al. Circ Cardiovasc Genet. 2015 Oct;8(5):643-52. doi: 10.1161/CIRCGENETICS.113.000690. Epub 2015 Jul 14. Circ Cardiovasc Genet. 2015. PMID: 26175529 Free article.
Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.
Esslinger U, Garnier S, Korniat A, Proust C, Kararigas G, Müller-Nurasyid M, Empana JP, Morley MP, Perret C, Stark K, Bick AG, Prasad SK, Kriebel J, Li J, Tiret L, Strauch K, O'Regan DP, Marguiles KB, Seidman JG, Boutouyrie P, Lacolley P, Jouven X, Hengstenberg C, Komajda M, Hakonarson H, Isnard R, Arbustini E, Grallert H, Cook SA, Seidman CE, Regitz-Zagrosek V, Cappola TP, Charron P, Cambien F, Villard E. Esslinger U, et al. PLoS One. 2017 Mar 15;12(3):e0172995. doi: 10.1371/journal.pone.0172995. eCollection 2017. PLoS One. 2017. PMID: 28296976 Free PMC article.
Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23.
Garnier S, Harakalova M, Weiss S, Mokry M, Regitz-Zagrosek V, Hengstenberg C, Cappola TP, Isnard R, Arbustini E, Cook SA, van Setten J, Calis JJA, Hakonarson H, Morley MP, Stark K, Prasad SK, Li J, O'Regan DP, Grasso M, Müller-Nurasyid M, Meitinger T, Empana JP, Strauch K, Waldenberger M, Marguiles KB, Seidman CE, Kararigas G, Meder B, Haas J, Boutouyrie P, Lacolley P, Jouven X, Erdmann J, Blankenberg S, Wichter T, Ruppert V, Tavazzi L, Dubourg O, Roizes G, Dorent R, de Groote P, Fauchier L, Trochu JN, Aupetit JF, Bilinska ZT, Germain M, Völker U, Hemerich D, Raji I, Bacq-Daian D, Proust C, Remior P, Gomez-Bueno M, Lehnert K, Maas R, Olaso R, Saripella GV, Felix SB, McGinn S, Duboscq-Bidot L, van Mil A, Besse C, Fontaine V, Blanché H, Ader F, Keating B, Curjol A, Boland A, Komajda M, Cambien F, Deleuze JF, Dörr M, Asselbergs FW, Villard E, Trégouët DA, Charron P. Garnier S, et al. Eur Heart J. 2021 May 21;42(20):2000-2011. doi: 10.1093/eurheartj/ehab030. Eur Heart J. 2021. PMID: 33677556 Free PMC article.
Cardiac PPARalpha expression in patients with dilated cardiomyopathy.
Schupp M, Kintscher U, Fielitz J, Thomas J, Pregla R, Hetzer R, Unger T, Regitz-Zagrosek V. Schupp M, et al. Eur J Heart Fail. 2006 May;8(3):290-4. doi: 10.1016/j.ejheart.2005.09.003. Epub 2005 Nov 22. Eur J Heart Fail. 2006. PMID: 16307905 Free article.
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.
Hassel D, Dahme T, Erdmann J, Meder B, Huge A, Stoll M, Just S, Hess A, Ehlermann P, Weichenhan D, Grimmler M, Liptau H, Hetzer R, Regitz-Zagrosek V, Fischer C, Nürnberg P, Schunkert H, Katus HA, Rottbauer W. Hassel D, et al. Nat Med. 2009 Nov;15(11):1281-8. doi: 10.1038/nm.2037. Epub 2009 Nov 1. Nat Med. 2009. PMID: 19881492
Heart transplantation in women with dilated cardiomyopathy.
Regitz-Zagrosek V, Petrov G, Lehmkuhl E, Smits JM, Babitsch B, Brunhuber C, Jurmann B, Stein J, Schubert C, Merz NB, Lehmkuhl HB, Hetzer R. Regitz-Zagrosek V, et al. Transplantation. 2010 Jan 27;89(2):236-44. doi: 10.1097/TP.0b013e3181c35255. Transplantation. 2010. PMID: 20098289
Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy.
Stark K, Esslinger UB, Reinhard W, Petrov G, Winkler T, Komajda M, Isnard R, Charron P, Villard E, Cambien F, Tiret L, Aumont MC, Dubourg O, Trochu JN, Fauchier L, Degroote P, Richter A, Maisch B, Wichter T, Zollbrecht C, Grassl M, Schunkert H, Linsel-Nitschke P, Erdmann J, Baumert J, Illig T, Klopp N, Wichmann HE, Meisinger C, Koenig W, Lichtner P, Meitinger T, Schillert A, König IR, Hetzer R, Heid IM, Regitz-Zagrosek V, Hengstenberg C. Stark K, et al. PLoS Genet. 2010 Oct 21;6(10):e1001167. doi: 10.1371/journal.pgen.1001167. PLoS Genet. 2010. PMID: 20975947 Free PMC article.
288 results