{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T20:01:07Z","timestamp":1791576067022,"version":"4.3.4"},"reference-count":66,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2014,10,26]],"date-time":"2014-10-26T00:00:00Z","timestamp":1414281600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cell Tissue Res"],"published-print":{"date-parts":[[2015,6]]},"DOI":"10.1007\/s00441-014-2015-5","type":"journal-article","created":{"date-parts":[[2014,10,24]],"date-time":"2014-10-24T21:42:32Z","timestamp":1414186952000},"page":"491-500","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":48,"title":["Arrhythmogenic cardiomyopathy: a disease of intercalated discs"],"prefix":"10.1007","volume":"360","author":[{"given":"Martina","family":"Calore","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Lorenzon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzia","family":"De Bortoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Poloni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Rampazzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,10,26]]},"reference":[{"key":"2015_CR1","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1093\/cvr\/cvt191","volume":"100","author":"E Agullo-Pascual","year":"2013","unstructured":"Agullo-Pascual E, Reid DA, Keegan S, Sidhu M, Feny\u00f6 D, Rothenberg E, Delmar M (2013) Super-resolution fluorescence microscopy of the cardiac connexome reveals plakophilin-2 inside the connexin43 plaque. Cardiovasc Res 100:231\u2013240","journal-title":"Cardiovasc Res"},{"key":"2015_CR2","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1086\/521633","volume":"81","author":"A Asimaki","year":"2007","unstructured":"Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, McKenna WJ (2007) A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 81:964\u2013973","journal-title":"Am J Hum Genet"},{"key":"2015_CR3","doi-asserted-by":"crossref","first-page":"240ra74","DOI":"10.1126\/scitranslmed.3008008","volume":"6","author":"A Asimaki","year":"2014","unstructured":"Asimaki A, Kapoor S, Plovie E, Karin Arndt A, Adams E, Liu Z, James CA, Judge DP, Calkins H, Churko J, Wu JC, MacRae CA, Kl\u00e9ber AG, Saffitz JE (2014) Identification of a new modulator of the intercalated disc in a zebrafish model of arrhythmogenic cardiomyopathy. Sci Transl Med 6:240ra74","journal-title":"Sci Transl Med"},{"key":"2015_CR4","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/nrcardio.2011.173","volume":"9","author":"C Basso","year":"2011","unstructured":"Basso C, Bauce B, Corrado D, Thiene G (2011) Pathophysiology of arrhythmogenic cardiomyopathy. Nat Rev Cardiol 9:223\u2013233","journal-title":"Nat Rev Cardiol"},{"key":"2015_CR5","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1016\/j.amjcard.2008.06.054","volume":"102","author":"B Bauce","year":"2008","unstructured":"Bauce B, Frigo G, Marcus FI, Basso C, Rampazzo A, Maddalena F, Corrado D, Winnicki M, Daliento L, Rigato I, Steriotis A, Mazzotti E, Thiene G, Nava A (2008) Comparison of clinical features of arrhythmogenic right ventricular cardiomyopathy in men versus women. Am J Cardiol 102:1252\u20131257","journal-title":"Am J Cardiol"},{"key":"2015_CR6","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.hrthm.2009.09.070","volume":"7","author":"B Bauce","year":"2010","unstructured":"Bauce B, Nava A, Beffagna G, Basso C, Lorenzon A, Smaniotto G, De Bortoli M, Rigato I, Mazzotti E, Steriotis A, Marra MP, Towbin JA, Thiene G, Danieli GA, Rampazzo A (2010) Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy\/dysplasia. Heart Rhythm 7:22\u201329","journal-title":"Heart Rhythm"},{"key":"2015_CR7","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1016\/j.cardiores.2004.10.005","volume":"65","author":"G Beffagna","year":"2005","unstructured":"Beffagna G, Occhi G, Nava A, Vitiello L, Ditadi A, Basso C, Bauce B, Carraro G, Thiene G, Towbin JA, Danieli GA, Rampazzo A (2005) Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res 65:366\u2013373","journal-title":"Cardiovasc Res"},{"key":"2015_CR8","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1016\/S0190-9622(98)70317-2","volume":"39","author":"L Carvajal-Huerta","year":"1998","unstructured":"Carvajal-Huerta L (1998) Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 39:418\u2013421","journal-title":"J Am Acad Dermatol"},{"key":"2015_CR9","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1161\/CIRCGENETICS.113.000188","volume":"6","author":"O Caspi","year":"2013","unstructured":"Caspi O, Huber I, Gepstein A, Arbel G, Maizels L, Boulos M, Gepstein L (2013) Modeling of arrhythmogenic right ventricular cardiomyopathy with human induced pluripotent stem cells. Circ Cardiovasc Genet 6:557\u2013568","journal-title":"Circ Cardiovasc Genet"},{"key":"2015_CR10","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1161\/CIRCRESAHA.114.302810","volume":"114","author":"SN Chen","year":"2014","unstructured":"Chen SN, Gurha P, Lombardi R, Ruggiero A, Willerson JT, Marian AJ (2014) The hippo pathway is activated and is a causal mechanism for adipogenesis in arrhythmogenic cardiomyopathy. Circ Res 114:454\u2013468","journal-title":"Circ Res"},{"key":"2015_CR11","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1016\/S0735-1097(97)00332-X","volume":"30","author":"D Corrado","year":"1997","unstructured":"Corrado D, Basso C, Thiene G, McKenna WJ, Davies MJ, Fontaliran F, Nava A, Silvestri F, Blomstr\u00f6m-Lundqvist C, Wlodarska EK, Fontaine G, Camerini F (1997) Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy\/dysplasia: a multicenter study. J Am Coll Cardiol 30:1512\u20131520","journal-title":"J Am Coll Cardiol"},{"key":"2015_CR12","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1001\/jama.296.13.1593","volume":"296","author":"D Corrado","year":"2006","unstructured":"Corrado D, Basso C, Pavei A, Michieli P, Schiavon M, Thiene G (2006) Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program. JAMA 296:1593\u20131601","journal-title":"JAMA"},{"key":"2015_CR13","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1136\/hrt.2010.193276","volume":"97","author":"D Corrado","year":"2011","unstructured":"Corrado D, Basso C, Pilichou K, Thiene G (2011) Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy\/dysplasia. Heart 97:530\u2013539","journal-title":"Heart"},{"key":"2015_CR14","first-page":"85","volume-title":"Cardiac electrophysiology: from cell to bedside","author":"M Delmar","year":"2009","unstructured":"Delmar M, Sorgen PL (2009) Molecular organization and regulation of the cardiac gap junction channel Connexin43. In: Zipes DP, Jalife J (eds) Cardiac electrophysiology: from cell to bedside. Saunders Elsevier, Philadelphia, pp 85\u201392"},{"key":"2015_CR15","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.ejcb.2005.11.003","volume":"85","author":"WW Franke","year":"2006","unstructured":"Franke WW, Borrmann CM, Grund C, Pieperhoff S (2006) The area composita of adhering junctions connecting heart muscle cells of vertebrates. I. Molecular definition in intercalated disks of cardiomyocytes by immunoelectron microscopy of desmosomal proteins. Eur J Cell Biol 85:69\u201382","journal-title":"Eur J Cell Biol"},{"key":"2015_CR16","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1007\/s00441-014-1865-1","volume":"357","author":"WW Franke","year":"2014","unstructured":"Franke WW, D\u00f6rflinger Y, Kuhn C, Zimbelmann R, Winter-Simanowski S, Frey N, Heid H (2014) Protein LUMA is a cytoplasmic plaque constituent of various epithelial adherens junctions and composite junctions of myocardial intercalated disks: a unifying finding for cell biology and cardiology. Cell Tissue Res 357:159\u2013172","journal-title":"Cell Tissue Res"},{"key":"2015_CR17","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1093\/europace\/euq104","volume":"12","author":"V Fressart","year":"2010","unstructured":"Fressart V, Duthoit G, Donal E, Probst V, Deharo JC, Chevalier P, Klug D, Dubourg O, Delacretaz E, Cosnay P, Scanu P, Extramiana F, Keller D, Hidden-Lucet F, Simon F, Bessirard V, Roux-Buisson N, Hebert JL, Azarine A, Casset-Senon D, Rouzet F, Lecarpentier Y, Fontaine G, Coirault C, Frank R, Hainque B, Charron P (2010) Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia\/cardiomyopathy: spectrum of mutations and clinical impact in practice. Europace 12:861\u2013868","journal-title":"Europace"},{"key":"2015_CR18","doi-asserted-by":"crossref","first-page":"2012","DOI":"10.1172\/JCI27751","volume":"116","author":"E Garcia-Gras","year":"2006","unstructured":"Garcia-Gras E, Lombardi R, Giocondo MJ, Willerson JT, Schneider MD, Khoury DS, Marian AJ (2006) Suppression of canonical Wnt\/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J Clin Invest 116:2012\u20132021","journal-title":"J Clin Invest"},{"key":"2015_CR19","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1016\/j.bbamem.2007.07.014","volume":"1778","author":"D Garrod","year":"2008","unstructured":"Garrod D, Chidgey M (2008) Desmosome structure, composition and function. Biochim Biophys Acta Biomembr 1778:572\u2013587","journal-title":"Biochim Biophys Acta Biomembr"},{"key":"2015_CR20","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1038\/ng1461","volume":"36","author":"B Gerull","year":"2004","unstructured":"Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L (2004) Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 36:1162\u20131164","journal-title":"Nat Genet"},{"key":"2015_CR21","doi-asserted-by":"crossref","unstructured":"Goossens S, Janssens B, Bonn\u00e9 S, De Rycke R, Braet F, Hengel J van, Roy F van (2007) A unique and specific interaction between alphaT-catenin and plakophilin-2 in the area composita, the mixed-type junctional structure of cardiac intercalated discs. J Cell Sci 120:2126\u20132136","DOI":"10.1242\/jcs.004713"},{"key":"2015_CR22","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1126\/science.1199010","volume":"332","author":"T Heallen","year":"2011","unstructured":"Heallen T, Zhang M, Wang J, Bonilla-Claudio M, Klysik E, Johnson RL, Martin JF (2011) Hippo pathway inhibits Wnt signaling to restrain cardiomyocyte proliferation and heart size. Science 332:458\u2013461","journal-title":"Science"},{"key":"2015_CR23","doi-asserted-by":"crossref","unstructured":"Hengel J van, Calore M, Bauce B, Dazzo E, Mazzotti E, De Bortoli M, Lorenzon A, Li Mura IE, Beffagna G, Rigato I, Vleeschouwers M, Tyberghein K, Hulpiau P, Hamme E van, Zaglia T, Corrado D, Basso C, Thiene G, Daliento L, Nava A, Roy F van, Rampazzo A (2013) Mutations in the area composita protein alpha-T-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 34:201\u2013210","DOI":"10.1093\/eurheartj\/ehs373"},{"key":"2015_CR24","doi-asserted-by":"crossref","first-page":"E101","DOI":"10.1038\/ncb0402-e101","volume":"4","author":"C Jamora","year":"2002","unstructured":"Jamora C, Fuchs E (2002) Intercellular adhesion, signalling and the cytoskeleton. Nat Cell Biol 4:E101\u2013E108","journal-title":"Nat Cell Biol"},{"key":"2015_CR25","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.hrthm.2004.01.001","volume":"1","author":"SR Kaplan","year":"2004","unstructured":"Kaplan SR, Gard JJ, Protonotarios N, Tsatsopoulou A, Spiliopoulou C, Anastasakis A, Squarcioni CP, McKenna WJ, Thiene G, Basso C, Brousse N, Fontaine G, Saffitz JE (2004) Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). Heart Rhythm 1:3\u201311","journal-title":"Heart Rhythm"},{"key":"2015_CR26","doi-asserted-by":"crossref","unstructured":"Kapplinger JD, Landstrom AP, Salisbury BA, Callis TE, Pollevick GD, Tester DJ, Cox MG, Bhuiyan Z, Bikker H, Wiesfeld AC, Hauer RN, Tintelen JP van, Jongbloed JD, Calkins H, Judge DP, Wilde AA, Ackerman MJ (2011) Distinguishing arrhythmogenic right ventricular cardiomyopathy\/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol 57:2317\u20132327","DOI":"10.1016\/j.jacc.2010.12.036"},{"key":"2015_CR27","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1080\/cac.10.4-6.293.297","volume":"10","author":"E Kardami","year":"2003","unstructured":"Kardami E, Banerji S, Doble BW, Dang X, Fandrich RR, Jin Y, Cattini PA (2003) PKC-dependent phosphorylation may regulate the ability of connexin43 to inhibit DNA synthesis.Cell Commun Adhes 10:293\u2013297","journal-title":"Cell Commun Adhes"},{"key":"2015_CR28","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1038\/nature11799","volume":"494","author":"C Kim","year":"2013","unstructured":"Kim C, Wong J, Wen J, Wang S, Wang C, Spiering S, Kan NG, Forcales S, Puri PL, Leone TC, Marine JE, Calkins H, Kelly DP, Judge DP, Chen H (2013) Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs. Nature 494:105\u2013110","journal-title":"Nature"},{"key":"2015_CR29","doi-asserted-by":"crossref","first-page":"4595","DOI":"10.1093\/hmg\/ddq387","volume":"19","author":"B Klauke","year":"2010","unstructured":"Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, Dieding M, Walhorn V, Anselmetti D, Gerdes D, Bohms B, Schulz U, Zu Knyphausen E, Vorgerd M, Gummert J, Milting H (2010) De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. Hum Mol Genet 19:4595\u20134607","journal-title":"Hum Mol Genet"},{"key":"2015_CR30","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1023\/A:1021154115673","volume":"242","author":"S Kostin","year":"2003","unstructured":"Kostin S, Rieger M, Dammer S, Hein S, Richter M, Kl\u00f6vekorn WP, Bauer EP, Schaper J (2003) Gap junction remodeling and altered connexin43 expression in the failing human heart. Mol Cell Biochem 242:135\u2013144","journal-title":"Mol Cell Biochem"},{"key":"2015_CR31","doi-asserted-by":"crossref","first-page":"4582","DOI":"10.1093\/hmg\/ddr392","volume":"20","author":"D Li","year":"2011","unstructured":"Li D, Liu Y, Maruyama M, Zhu W, Chen H, Zhang W, Reuter S, Lin SF, Haneline LS, Field LJ, Chen PS, Shou W (2011) Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy. Hum Mol Genet 20:4582\u20134596","journal-title":"Hum Mol Genet"},{"key":"2015_CR32","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1128\/MCB.01025-10","volume":"31","author":"J Li","year":"2011","unstructured":"Li J, Swope D, Raess N, Cheng L, Muller EJ, Radice GL (2011) Cardiac tissue-restricted deletion of plakoglobin results in progressive cardiomyopathy and activation of beta-catenin signaling. Mol Cell Biol 31:1134\u20131144","journal-title":"Mol Cell Biol"},{"key":"2015_CR33","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1038\/ejhg.2013.39","volume":"21","author":"IE Li Mura","year":"2013","unstructured":"Li Mura IE, Bauce B, Nava A, Fanciulli M, Vazza G, Mazzotti E, Rigato I, De Bortoli M, Beffagna G, Lorenzon A, Calore M, Dazzo E, Nobile C, Mostacciuolo ML, Corrado D, Basso C, Daliento L, Thiene G, Rampazzo A (2013) Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy. Eur J Hum Genet 21:1226\u20131231","journal-title":"Eur J Hum Genet"},{"key":"2015_CR34","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1161\/CIRCRESAHA.109.196899","volume":"104","author":"R Lombardi","year":"2009","unstructured":"Lombardi R, Dong J, Rodriguez G, Bell A, Leung TK, Schwartz RJ, Willerson JT, Brugada R, Marian AJ (2009) Genetic fate mapping identifies second heart field progenitor cells as a source of adipocytes in arrhythmogenic right ventricular cardiomyopathy. Circ Res 104:1076\u20131084","journal-title":"Circ Res"},{"key":"2015_CR35","doi-asserted-by":"crossref","unstructured":"Lombardi R, Graca C-HM da, Bell A, Fromm RR, Willerson JT, Marian AJ (2011) Nuclear plakoglobin is essential for differentiation of cardiac progenitor cells to adipocytes in arrhythmogenic right ventricular cardiomyopathy. Circ Res 109:1342\u20131353","DOI":"10.1161\/CIRCRESAHA.111.255075"},{"key":"2015_CR36","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1093\/hmg\/ddt508","volume":"23","author":"RC Lyon","year":"2014","unstructured":"Lyon RC, Mezzano V, Wright AT, Pfeiffer E, Chuang J, Banares K, Castaneda A, Ouyang K, Cui L, Contu R, Gu Y, Evans SM, Omens JH, Peterson KL, McCulloch AD, Sheikh F (2014) Connexin defects underlie arrhythmogenic right ventricular cardiomyopathy in a novel mouse model. Hum Mol Genet 23:1134\u20131150","journal-title":"Hum Mol Genet"},{"key":"2015_CR37","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1093\/eurheartj\/ehs226","volume":"34","author":"D Ma","year":"2013","unstructured":"Ma D, Wei H, Lu J, Ho S, Zhang G, Sun X, Oh Y, Tan SH, Ng ML, Shim W, Wong P, Liew R (2013) Generation of patient-specific induced pluripotent stem cell-derived cardiomyocytes as a cellular model of arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 34:1122\u20131133","journal-title":"Eur Heart J"},{"key":"2015_CR38","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1093\/eurheartj\/ehq025","volume":"31","author":"FI Marcus","year":"2010","unstructured":"Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MG, Daubert JP, Fontaine G, Gear K, Hauer R, Nava A, Picard MH, Protonotarios N, Saffitz JE, Sanborn DM, Steinberg JS, Tandri H, Thiene G, Towbin JA, Tsatsopoulou A, Wichter T, Zareba W (2010) Diagnosis of arrhythmogenic right ventricular cardiomyopathy\/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J 31:806\u2013814","journal-title":"Eur Heart J"},{"key":"2015_CR39","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1136\/hrt.71.3.215","volume":"71","author":"WJ McKenna","year":"1994","unstructured":"McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstr\u00f6m-Lundqvist C, Fontaine G, Camerini F (1994) Diagnosis of arrhythmogenic right ventricular dysplasia\/cardiomyopathy. Task force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. Br Heart J 71:215\u2013218","journal-title":"Br Heart J"},{"key":"2015_CR40","doi-asserted-by":"crossref","first-page":"2119","DOI":"10.1016\/S0140-6736(00)02379-5","volume":"355","author":"G McKoy","year":"2000","unstructured":"McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ (2000) Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355:2119\u20132124","journal-title":"Lancet"},{"key":"2015_CR41","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1016\/j.ajhg.2008.01.010","volume":"82","author":"ND Merner","year":"2008","unstructured":"Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL (2008) Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet 82:809\u2013821","journal-title":"Am J Hum Genet"},{"key":"2015_CR42","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1016\/0735-1097(88)92603-4","volume":"12","author":"A Nava","year":"1988","unstructured":"Nava A, Thiene G, Canciani B, Scognamiglio R, Daliento L, Buja G, Martini B, Stritoni P, Fasoli G (1988) Familial occurrence of right ventricular dysplasia: a study involving nine families. J Am Coll Cardiol 12:1222\u20131228","journal-title":"J Am Coll Cardiol"},{"key":"2015_CR43","doi-asserted-by":"crossref","first-page":"2226","DOI":"10.1016\/S0735-1097(00)00997-9","volume":"36","author":"A Nava","year":"2000","unstructured":"Nava A, Bauce B, Basso C, Muriago M, Rampazzo A, Villanova C, Daliento L, Buja G, Corrado D, Danieli GA, Thiene G (2000) Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 36:2226\u20132233","journal-title":"J Am Coll Cardiol"},{"key":"2015_CR44","doi-asserted-by":"crossref","first-page":"2761","DOI":"10.1093\/hmg\/9.18.2761","volume":"9","author":"EE Norgett","year":"2000","unstructured":"Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP (2000) Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 9:2761\u20132766","journal-title":"Hum Mol Genet"},{"key":"2015_CR45","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.ejcb.2007.04.001","volume":"86","author":"S Pieperhoff","year":"2007","unstructured":"Pieperhoff S, Franke WW (2007) The area composita of adhering junctions connecting heart muscle cells of vertebrates. IV. Coalescence and amalgamation of desmosomal and adhaerens junction components\u2014late processes in mammalian heart development. Eur J Cell Biol 86:377\u2013391","journal-title":"Eur J Cell Biol"},{"key":"2015_CR46","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/j.ejcb.2009.11.025","volume":"89","author":"S Pieperhoff","year":"2010","unstructured":"Pieperhoff S, Borrmann C, Grund C, Barth M, Rizzo S, Franke WW (2010) The area composita of adhering junctions connecting heart muscle cells of vertebrates. VII. The different types of lateral junctions between the special cardiomyocytes of the conduction system of ovine and bovine hearts. Eur J Cell Biol 89:365\u2013378","journal-title":"Eur J Cell Biol"},{"key":"2015_CR47","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1161\/CIRCULATIONAHA.105.583674","volume":"113","author":"K Pilichou","year":"2006","unstructured":"Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, Thiene G, Danieli GA, Rampazzo A (2006) Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation 113:1171\u20131179","journal-title":"Circulation"},{"key":"2015_CR48","doi-asserted-by":"crossref","unstructured":"Pilichou K, Remme CA, Basso C, Campian ME, Rizzo S, Barnett P, Scicluna BP, Bauce B, Hoff MJ van den, Bakker JM de, Tan HL, Valente M, Nava A, Wilde AA, Moorman AF, Thiene G, Bezzina CR (2009) Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy. J Exp Med 206:1787\u20131802","DOI":"10.1084\/jem.20090641"},{"key":"2015_CR49","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1016\/0002-8703(88)90776-4","volume":"116","author":"N Protonotarios","year":"1988","unstructured":"Protonotarios N, Tsatsopoulou A, Scampardonis G (1988) Arrhythmogenic cardiomyopathy with ectodermal dysplasia. Am Heart J 116:1651\u20131652","journal-title":"Am Heart J"},{"key":"2015_CR50","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1093\/eurheartj\/ehr451","volume":"33","author":"G Quarta","year":"2012","unstructured":"Quarta G, Syrris P, Ashworth M, Jenkins S, Zuborne Alapi K, Morgan J, Muir A, Pantazis A, McKenna WJ, Elliott PM (2012) Mutations in the Lamin A\/C gene mimic arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 33:1128\u20131136","journal-title":"Eur Heart J"},{"key":"2015_CR51","doi-asserted-by":"crossref","first-page":"17","DOI":"10.4081\/hi.2006.17","volume":"2","author":"A Rampazzo","year":"2006","unstructured":"Rampazzo A (2006) Genetic bases of arrhythmogenic right ventricular cardiomyopathy. Heart Int 2:17","journal-title":"Heart Int"},{"key":"2015_CR52","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1086\/344208","volume":"71","author":"A Rampazzo","year":"2002","unstructured":"Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA (2002) Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 71:1200\u20131206","journal-title":"Am J Hum Genet"},{"key":"2015_CR53","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1161\/CIRCGENETICS.113.000288","volume":"6","author":"I Rigato","year":"2013","unstructured":"Rigato I, Bauce B, Rampazzo A, Zorzi A, Pilichou K, Mazzotti E, Migliore F, Marra MP, Lorenzon A, De Bortoli M, Calore M, Nava A, Daliento L, Gregori D, Iliceto S, Thiene G, Basso C, Corrado D (2013) Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. Circ Cardiovasc Genet 6:533\u2013542","journal-title":"Circ Cardiovasc Genet"},{"key":"2015_CR54","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1093\/cvr\/cvs219","volume":"95","author":"S Rizzo","year":"2012","unstructured":"Rizzo S, Lodder EM, Verkerk AO, Wolswinkel R, Beekman L, Pilichou K, Basso C, Remme CA, Thiene G, Bezzina CR (2012) Intercalated disc abnormalities, reduced Na+\u2009current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes. Cardiovasc Res 95:409\u2013418","journal-title":"Cardiovasc Res"},{"key":"2015_CR55","doi-asserted-by":"crossref","unstructured":"Roberts JD, Herkert JC, Rutberg J, Nikkel SM, Wiesfeld AC, Dooijes D, Gow RM, Tintelen JP van, Gollob MH (2013) Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy. Clin Genet 83:452\u2013456","DOI":"10.1111\/j.1399-0004.2012.01950.x"},{"key":"2015_CR56","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1126\/science.289.5481.950","volume":"289","author":"SE Ross","year":"2000","unstructured":"Ross SE, Hemati N, Longo KA, Bennett CN, Lucas PC, Erickson RL, MacDougald OA (2000) Inhibition of adipogenesis by Wnt signaling. Science 289:950\u2013953","journal-title":"Science"},{"key":"2015_CR57","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1161\/CIRCRESAHA.109.201418","volume":"105","author":"PY Sato","year":"2009","unstructured":"Sato PY, Musa H, Coombs W, Guerrero-Serna G, Patino GA, Taffet SM, Isom LL, Delmar M (2009) Loss of plakophilin-2 expression leads to decreased sodium current and slower conduction velocity in cultured cardiac myocytes. Circ Res 105:523\u2013526","journal-title":"Circ Res"},{"key":"2015_CR58","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1016\/j.legalmed.2011.08.004","volume":"3","author":"T Sato","year":"2011","unstructured":"Sato T, Nishio H, Suzuki K (2011) Sudden death during exercise in a juvenile with arrhythmogenic right ventricular cardiomyopathy and desmoglein-2 gene substitution: a case report. Leg Med (Tokyo) 3:298\u2013300","journal-title":"Leg Med (Tokyo)"},{"key":"2015_CR59","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1161\/CIRCGENETICS.109.935262","volume":"3","author":"S Sen-Chowdhry","year":"2010","unstructured":"Sen-Chowdhry S, Syrris P, Pantazis A, Quarta G, McKenna WJ, Chambers JC (2010) Mutational heterogeneity, modifier genes, and environmental influences contribute to phenotypic diversity of arrhythmogenic cardiomyopathy. Circ Cardiovasc Genet 3:323\u2013330","journal-title":"Circ Cardiovasc Genet"},{"key":"2015_CR60","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1086\/509122","volume":"79","author":"P Syrris","year":"2006","unstructured":"Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKenna WJ (2006) Arrhythmogenic right ventricular dysplasia\/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet 79:978\u2013984","journal-title":"Am J Hum Genet"},{"key":"2015_CR61","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1161\/CIRCULATIONAHA.110.005405","volume":"124","author":"M Taylor","year":"2011","unstructured":"Taylor M, Graw S, Sinagra G, Barnes C, Slavov D, Brun F, Pinamonti B, Salcedo EE, Sauer W, Pyxaras S, Anderson B, Simon B, Bogomolovas J, Labeit S, Granzier H, Mestroni L (2011) Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. Circulation 124:876\u2013885","journal-title":"Circulation"},{"key":"2015_CR62","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1056\/NEJM198801213180301","volume":"318","author":"G Thiene","year":"1988","unstructured":"Thiene G, Nava A, Corrado D, Rossi L, Pennelli N (1988) Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med 318:129\u2013133","journal-title":"N Engl J Med"},{"key":"2015_CR63","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1093\/hmg\/10.3.189","volume":"10","author":"N Tiso","year":"2001","unstructured":"Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A (2001) Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 10:189\u2013194","journal-title":"Hum Mol Genet"},{"key":"2015_CR64","first-page":"ra70","volume":"4","author":"M Xin","year":"2011","unstructured":"Xin M, Kim Y, Sutherland LB, Qi X, McAnally J, Schwartz RJ, Richardson JA, Bassel-Duby R, Olson EN (2011) Regulation of insulin-like growth factor signaling by Yap governs cardiomyocyte proliferation and embryonic heart size. Sci Signal 4:ra70","journal-title":"Sci Signal"},{"key":"2015_CR65","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/j.jacc.2009.11.020","volume":"55","author":"T Xu","year":"2010","unstructured":"Xu T, Yang Z, Vatta M, Rampazzo A, Beffagna G, Pilichou K, Scherer SE, Saffitz J, Kravitz J, Zareba W, Danieli GA, Lorenzon A, Nava A, Bauce B, Thiene G, Basso C, Calkins H, Gear K, Marcus F, Towbin JA (2010) Multidisciplinary study of right ventricular dysplasia investigators. Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 55:587\u2013597","journal-title":"J Am Coll Cardiol"},{"key":"2015_CR66","doi-asserted-by":"crossref","unstructured":"Zwaag PA van der, Rijsingen IA van, Asimaki A, Jongbloed JD, Veldhuisen DJ van, Wiesfeld AC, Cox MG, Lochem LT van, Boer RA de, Hofstra RM, Christiaans I, Spaendonck-Zwarts KY van, Lekanne dit Deprez RH, Judge DP, Calkins H, Suurmeijer AJ, Hauer RN, Saffitz JE, Wilde AA, Berg MP van den, Tintelen JP van (2012) Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur J Heart Fail 14:1199\u20131207","DOI":"10.1093\/eurjhf\/hfs119"}],"container-title":["Cell and Tissue Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00441-014-2015-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00441-014-2015-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00441-014-2015-5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T08:56:20Z","timestamp":1559120180000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00441-014-2015-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10,26]]},"references-count":66,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["2015"],"URL":"https:\/\/doi.org\/10.1007\/s00441-014-2015-5","relation":{},"ISSN":["0302-766X","1432-0878"],"issn-type":[{"value":"0302-766X","type":"print"},{"value":"1432-0878","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,10,26]]}}}