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A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.
Thierfelder L, MacRae C, Watkins H, Tomfohrde J, Williams M, McKenna W, Bohm K, Noeske G, Schlepper M, Bowcock A, et al. Thierfelder L, et al. Proc Natl Acad Sci U S A. 1993 Jul 1;90(13):6270-4. doi: 10.1073/pnas.90.13.6270. Proc Natl Acad Sci U S A. 1993. PMID: 8327508 Free PMC article.
Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history.
Murphy RT, Mogensen J, McGarry K, Bahl A, Evans A, Osman E, Syrris P, Gorman G, Farrell M, Holton JL, Hanna MG, Hughes S, Elliott PM, Macrae CA, McKenna WJ. Murphy RT, et al. Among authors: macrae ca. J Am Coll Cardiol. 2005 Mar 15;45(6):922-30. doi: 10.1016/j.jacc.2004.11.053. J Am Coll Cardiol. 2005. PMID: 15766830 Free article.
Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.
Refaat MM, Lubitz SA, Makino S, Islam Z, Frangiskakis JM, Mehdi H, Gutmann R, Zhang ML, Bloom HL, MacRae CA, Dudley SC, Shalaby AA, Weiss R, McNamara DM, London B, Ellinor PT. Refaat MM, et al. Among authors: macrae ca. Heart Rhythm. 2012 Mar;9(3):390-6. doi: 10.1016/j.hrthm.2011.10.016. Epub 2011 Oct 17. Heart Rhythm. 2012. PMID: 22004663 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: macrae ca. Nat Med. 2012 May;18(5):766-73. doi: 10.1038/nm.2693. Nat Med. 2012. PMID: 22466703 Free PMC article.
370 results