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Page 1
Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.
Purevjav E, Arimura T, Augustin S, Huby AC, Takagi K, Nunoda S, Kearney DL, Taylor MD, Terasaki F, Bos JM, Ommen SR, Shibata H, Takahashi M, Itoh-Satoh M, McKenna WJ, Murphy RT, Labeit S, Yamanaka Y, Machida N, Park JE, Alexander PM, Weintraub RG, Kitaura Y, Ackerman MJ, Kimura A, Towbin JA. Purevjav E, et al. Among authors: labeit s. Hum Mol Genet. 2012 May 1;21(9):2039-53. doi: 10.1093/hmg/dds022. Epub 2012 Jan 27. Hum Mol Genet. 2012. PMID: 22286171 Free PMC article.
Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis.
Purevjav E, Varela J, Morgado M, Kearney DL, Li H, Taylor MD, Arimura T, Moncman CL, McKenna W, Murphy RT, Labeit S, Vatta M, Bowles NE, Kimura A, Boriek AM, Towbin JA. Purevjav E, et al. Among authors: labeit s. J Am Coll Cardiol. 2010 Oct 26;56(18):1493-502. doi: 10.1016/j.jacc.2010.05.045. J Am Coll Cardiol. 2010. PMID: 20951326 Free PMC article.
Perturbation of the titin/MURF1 signaling complex is associated with hypertrophic cardiomyopathy in a fish model and in human patients.
Higashikuse Y, Mittal N, Arimura T, Yoon SH, Oda M, Enomoto H, Kaneda R, Hattori F, Suzuki T, Kawakami A, Gasch A, Furukawa T, Labeit S, Fukuda K, Kimura A, Makino S. Higashikuse Y, et al. Among authors: labeit s. Dis Model Mech. 2019 Nov 15;12(11):dmm041103. doi: 10.1242/dmm.041103. Dis Model Mech. 2019. PMID: 31628103 Free PMC article.
Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy.
Gramlich M, Pane LS, Zhou Q, Chen Z, Murgia M, Schötterl S, Goedel A, Metzger K, Brade T, Parrotta E, Schaller M, Gerull B, Thierfelder L, Aartsma-Rus A, Labeit S, Atherton JJ, McGaughran J, Harvey RP, Sinnecker D, Mann M, Laugwitz KL, Gawaz MP, Moretti A. Gramlich M, et al. Among authors: labeit s. EMBO Mol Med. 2015 May;7(5):562-76. doi: 10.15252/emmm.201505047. EMBO Mol Med. 2015. PMID: 25759365 Free PMC article.
234 results