Genetic cardiomyopathies

Fatkin D, Otway R, Richmond Z (2010) Genetics of dilated cardiomyopathy. Heart Fail Clin 6:129–140 Pasotti M, Repetto A, Pisani A, Arbustini E (2002) Genetic diagnosis of familial dilated cardiomyopathy. Ital Heart J Suppl 3:386–393 Jefferies JL, Towbin JA (2010) Dilated cardiomyopathy. Lancet 375:752–762 Malhotra R, Mason PK (2009) Curr Opin Cardiol 24:203–208 Hershberger RE, Morales A, Siegfried JD (2010) Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals. Genet Med 12:655–667 Sparks EA, Boudoulas KD, Raman SV, Sasaki T et al (2011) Heritable cardiac conduction and myocardial disease: from the clinic to the basic science laboratory and back to the clinic. Cardiology 118:179–186 Bollati M, Barbiroli A, Favalli V, Arbustini E et al (2012) Structures of the lamin A/C R335W and E347K mutants: implications for dilated cardiolaminopathies. Biochem Biophys Res Commun 418:217–221 (S0006-291X(11)02345-X [pii]) Gupta P, Bilińska ZT, Sylvius N, Boudreau E et al (2010) Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption. Basic Res Cardiol 105:365–377 Fidziańska A, Bilińska ZT, Tesson F, Wagner T et al (2008) Obliteration of cardiomyocyte nuclear architecture in a patient with LMNA gene mutation. J Neurol Sci 271:91–96 Nikolova V, Leimena C, McMahon AC, Tan JC et al (2004) Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice. J Clin Invest 113:357–369 Arimura T, Ishikawa T, Nunoda S, Kawai S et al (2011) Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. Hum Mutat 32:1481–1491 Li D, Morales A, Gonzalez-Quintana J, Norton N et al (2010) Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. Clin Transl Sci 3:90–97 Refaat MM, Lubitz SA, Makino S, Islam Z et al (2012) Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. Heart Rhythm 9:390–396 Guo W, Schafer S, Greaser ML, Radke MH et al (2012) RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. Nat Med 18:766–773 Meder B, Haas J, Keller A, Heid C et al (2011) Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. Circ Cardiovasc Genet 4:110–122 Herman DS, Lam L, Taylor MR, Wang L et al (2012) Truncations of titin causing dilated cardiomyopathy. N Engl J Med 366:619–628 McNally EM (2012) Genetics: broken giant linked to heart failure. Nature 483:281–282 Norton N, Li D, Rieder MJ, Siegfried JD et al (2011) Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.Am J Hum Genet 88:273–282 Villard E, Perret C, Gary F, Proust C et al (2011) A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. Eur Heart J 32:1065–1076 Hishiya A, Salman MN, Carra S, Kampinga HH et al (2011) BAG3 directly interacts with mutated αB-crystallin to suppress its aggregation and toxicity. PLoS One 6:e16828 Zaragoza C, Gomez-Guerrero C, Martin-Ventura JL, Blanco-Colio L et al (2011) Animal models of cardiovascular diseases. J Biomed Biotechnol 2011:497841 Dahme T, Katus HA, Rottbauer W (2009) Fishing for the genetic basis of cardiovascular disease. Dis Model Mech 2:18–22 Vogel B, Meder B, Just S, Laufer C et al (2009) In-vivo characterization of human dilated cardiomyopathy genes in zebrafish. Biochem Biophys Res Commun 390:516–522 Bendig G, Grimmler M, Huttner IG, Wessels G, et al (2006) Integrin-linked kinase, a novel component of the cardiac mechanical stretch sensor, controls contractility in the zebrafish heart. Genes Dev 20:2361–2372 Xu X, Meiler SE, Zhong TP, Mohideen M et al (2002) Cardiomyopathy in zebrafish due to mutation in an alternatively spliced exon of titin. Nat Genet 30:205–209 Just S, Meder B, Berger IM, Etard C et al (2011) The myosin-interacting protein SMYD1 is essential for sarcomere organization. J Cell Sci 124(Pt 18):3127–3136 Meder B, Laufer C, Hassel D, Just S et al (2009) A single serine in the carboxyl terminus of cardiac essential myosin light chain-1 controls cardiomyocyte contractility in vivo. Circ Res 104:650–659 Bedell VM, Westcot SE, Ekker SC (2011) Lessons from morpholino-based screening in zebrafish. Brief Funct Genomics 10:181–188 Robu ME, Larson JD, Nasevicius A, Beiraghi S et al (2007) p53 activation by knockdown technologies. PLoS Genet 3:e78 Hassel D, Dahme T, Erdmann J, Meder B et al (2009) Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. Nat Med 15:1281–1288 Friedrichs F, Zugck C, Rauch GJ, Ivandic B et al (2009) HBEGF, SRA1, and IK: three cosegregating genes as determinants of cardiomyopathy. Genome Res 19:395–403 Ware JS, Roberts AM, Cook SA (2012) Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist. Heart 98:276–281 Haas J, Katus HA, Meder B (2011) Next-generation sequencing entering the clinical arena. Mol Cell Probes 25:206–211 Schnabel RB, Baccarelli A, Lin H, Ellinor PT et al (2012) Next steps in cardiovascular disease genomic research—sequencing, epigenetics, and transcriptomics. Clin Chem 58:113–126 Zaragoza MV, Fass J, Diegoli M, Lin D et al (2010) Mitochondrial DNA variant discovery and evaluation in human Cardiomyopathies through next-generation sequencing. PLoS One 5:e12295 Waddington CH (1942) The epigenotype. Int J Epidemiol 41:10–13 Schleithoff C, Voelter-Mahlknecht S, Dahmke IN, Mahlknecht U (2012) On the epigenetics of vascular regulation and disease. Clin Epigenetics 4:7 Carthew RW, Sontheimer EJ (2009) Origins and Mechanisms of miRNAs and siRNAs. Cell 136:642–655 Rao PK, Toyama Y, Chiang HR, Gupta S et al (2009) Loss of cardiac microRNA-mediated regulation leads to dilated cardiomyopathy and heart failure. Circ Res 105:585–594 Funahashi H, Izawa H, Hirashiki A, Cheng XW et al (2011) Altered microRNA expression associated with reduced catecholamine sensitivity in patients with chronic heart failure. J Cardiol 57:338–344 Satoh M, Minami Y, Takahashi Y, Tabuchi T et al (2011) A cellular microRNA, let-7i, is a novel biomarker for clinical outcome in patients with dilated cardiomyopathy. J Card Fail 17:923–929 Tijsen AJ, Creemers EE, Moerland PD, Windt LJ de et al (2010) MiR423–5p as a circulating biomarker for heart failure. Circ Res 106:1035–1039 Bock C, Tomazou EM, Brinkman AB, Müller F et al (2010) Quantitative comparison of genome-wide DNA methylation mapping technologies. Nat Biotechnol 28:1106–1114 Movassagh M, Choy MK, Knowles DA, Cordeddu L et al (2011) Distinct epigenomic features in end-stage failing human hearts. Circulation 124:2411–2422 Han P, Hang CT, Yang J, Chang CP (2011) Chromatin remodeling in cardiovascular development and physiology. Circ Res 108:378–396 Barry SP, Townsend PA (2010) What causes a broken heart—molecular insights into heart failure. Int Rev Cell Mol Biol 284:113–179 Eom GH, Cho YK, Ko JH, Shin S et al (2011) Casein kinase-2α1 induces hypertrophic response by phosphorylation of histone deacetylase 2 S394 and its activation in the heart. Circulation 123:2392–2403 Backs J, Olson EN (2006) Control of cardiac growth by histone acetylation/deacetylation. Circ Res 98:15–24 Theis JL, Sharpe KM, Matsumoto ME, Chai HS et al (2011) Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. Circ Cardiovasc Genet 4:585–594