{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T13:59:17Z","timestamp":1758808757441},"reference-count":37,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,9,1]],"date-time":"2017-09-01T00:00:00Z","timestamp":1504224000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["humanpathol.com","clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Human Pathology"],"published-print":{"date-parts":[[2017,9]]},"DOI":"10.1016\/j.humpath.2017.07.012","type":"journal-article","created":{"date-parts":[[2017,7,29]],"date-time":"2017-07-29T19:31:18Z","timestamp":1501356678000},"page":"101-108","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"special_numbering":"C","title":["Disturbed Desmoglein-2 in the intercalated disc of pediatric patients with dilated cardiomyopathy"],"prefix":"10.1016","volume":"67","author":[{"given":"Elise L.","family":"Kessler","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter GJ","family":"Nikkels","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toon AB","family":"van Veen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.humpath.2017.07.012_bb0005","doi-asserted-by":"crossref","first-page":"1807","DOI":"10.1161\/CIRCULATIONAHA.106.174287","volume":"113","author":"Maron","year":"2006","journal-title":"Circulation"},{"key":"10.1016\/j.humpath.2017.07.012_bb0010","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1161\/CIRCULATIONAHA.110.973826","article-title":"Competing risks for death and cardiac transplantation in children with dilated cardiomyopathy: results from the pediatric cardiomyopathy registry","volume":"124","author":"Alvarez","year":"2011","journal-title":"Circulation"},{"key":"10.1016\/j.humpath.2017.07.012_bb0015","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1038\/nrcardio.2013.105","article-title":"Dilated cardiomyopathy: the complexity of a diverse genetic architecture","volume":"10","author":"Hershberger","year":"2013","journal-title":"Nat Rev Cardiol"},{"key":"10.1016\/j.humpath.2017.07.012_bb0020","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1111\/j.1540-8167.2006.00530.x","article-title":"Dilated cardiomyopathy: a tale of cytoskeletal proteins and beyond","volume":"17","author":"Towbin","year":"2006","journal-title":"J Cardiovasc Electrophysiol"},{"key":"10.1016\/j.humpath.2017.07.012_bb0025","doi-asserted-by":"crossref","first-page":"482","DOI":"10.3389\/fphys.2014.00482","article-title":"Passive ventricular remodeling in cardiac disease: focus on heterogeneity","volume":"5","author":"Kessler","year":"2014","journal-title":"Front Physiol"},{"key":"10.1016\/j.humpath.2017.07.012_bb0030","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/cvr\/cvw259","article-title":"Refining the molecular organization of the cardiac intercalated disc","volume":"113","author":"Vermij","year":"2017","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.humpath.2017.07.012_bb0035","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1242\/dev.128.6.929","article-title":"Rescuing desmoplakin function in extra-embryonic ectoderm reveals the importance of this protein in embryonic heart, neuroepithelium, skin and vasculature","volume":"128","author":"Gallicano","year":"2001","journal-title":"Development"},{"key":"10.1016\/j.humpath.2017.07.012_bb0040","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1006\/dbio.1996.0346","article-title":"Embryonic heart and skin defects in mice lacking plakoglobin","volume":"180","author":"Bierkamp","year":"1996","journal-title":"Dev Biol"},{"key":"10.1016\/j.humpath.2017.07.012_bb0045","doi-asserted-by":"crossref","first-page":"3863","DOI":"10.1074\/jbc.270.8.3863","article-title":"Identification of two regulatory elements within the promoter region of the mouse connexin 43 gene","volume":"270","author":"Chen","year":"1995","journal-title":"J Biol Chem"},{"key":"10.1016\/j.humpath.2017.07.012_bb0050","doi-asserted-by":"crossref","first-page":"3529","DOI":"10.1242\/dev.121.11.3529","article-title":"Lack of beta-catenin affects mouse development at gastrulation","volume":"121","author":"Haegel","year":"1995","journal-title":"Development"},{"key":"10.1016\/j.humpath.2017.07.012_bb0055","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1078\/0171-9335-00278","article-title":"Loss of desmoglein 2 suggests essential functions for early embryonic development and proliferation of embryonal stem cells","volume":"81","author":"Eshkind","year":"2002","journal-title":"Eur J Cell Biol"},{"key":"10.1016\/j.humpath.2017.07.012_bb0060","doi-asserted-by":"crossref","first-page":"2761","DOI":"10.1093\/hmg\/9.18.2761","article-title":"Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma","volume":"9","author":"Norgett","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.humpath.2017.07.012_bb0065","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.ymgme.2008.06.005","article-title":"A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy","volume":"95","author":"Posch","year":"2008","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.humpath.2017.07.012_bb0070","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1007\/s00395-010-0101-8","article-title":"Stabilised beta-catenin in postnatal ventricular myocardium leads to dilated cardiomyopathy and premature death","volume":"105","author":"Hirschy","year":"2010","journal-title":"Basic Res Cardiol"},{"key":"10.1016\/j.humpath.2017.07.012_bb0075","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1111\/cge.12780","article-title":"Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction","volume":"91","author":"Ramond","year":"2017","journal-title":"Clin Genet"},{"key":"10.1016\/j.humpath.2017.07.012_bb0080","doi-asserted-by":"crossref","first-page":"1156","DOI":"10.4330\/wjc.v6.i11.1156","article-title":"Importance of genetic evaluation and testing in pediatric cardiomyopathy","volume":"6","author":"Tariq","year":"2014","journal-title":"World J Cardiol"},{"key":"10.1016\/j.humpath.2017.07.012_bb0085","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1007\/s12551-014-0146-2","article-title":"Adaptations of cytoarchitecture in human dilated cardiomyopathy","volume":"7","author":"Pluess","year":"2015","journal-title":"Biophys Rev"},{"key":"10.1016\/j.humpath.2017.07.012_bb0090","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1016\/j.cardiores.2003.12.010","article-title":"Connexin 43 expression and distribution in compensated and decompensated cardiac hypertrophy in patients with aortic stenosis","volume":"62","author":"Kostin","year":"2004","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.humpath.2017.07.012_bb0095","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1253\/circj.67.1017","article-title":"Correlation of connexin43 expression and late ventricular potentials in nonischemic dilated cardiomyopathy","volume":"67","author":"Kitamura","year":"2003","journal-title":"Circ J"},{"key":"10.1016\/j.humpath.2017.07.012_bb0100","doi-asserted-by":"crossref","first-page":"e94722","DOI":"10.1371\/journal.pone.0094722","article-title":"Assembly of the cardiac intercalated disk during pre- and postnatal development of the human heart","volume":"9","author":"Vreeker","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.humpath.2017.07.012_bb0105","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/j.hfc.2010.05.002","article-title":"The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years","volume":"6","author":"Wilkinson","year":"2010","journal-title":"Heart Fail Clin"},{"key":"10.1016\/j.humpath.2017.07.012_bb0110","doi-asserted-by":"crossref","first-page":"e003450","DOI":"10.1161\/JAHA.116.003450","article-title":"Natural history of dilated cardiomyopathy in children","volume":"5","author":"Puggia","year":"2016","journal-title":"J Am Heart Assoc"},{"key":"10.1016\/j.humpath.2017.07.012_bb0115","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1016\/j.healun.2014.06.002","article-title":"The International Society for Heart and Lung Transplantation guidelines for the management of pediatric heart failure: executive summary [corrected]","volume":"33","author":"Kirk","year":"2014","journal-title":"J Heart Lung Transplant"},{"key":"10.1016\/j.humpath.2017.07.012_bb0120","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.yjmcc.2015.09.015","article-title":"CTGF knockout does not affect cardiac hypertrophy and fibrosis formation upon chronic pressure overload","volume":"88","author":"Fontes","year":"2015","journal-title":"J Mol Cell Cardiol"},{"key":"10.1016\/j.humpath.2017.07.012_bb0125","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1006\/jmcc.2002.2102","article-title":"Remodeling of gap junctions in mouse hearts hypertrophied by forced retinoic acid signaling","volume":"34","author":"van Veen","year":"2002","journal-title":"J Mol Cell Cardiol"},{"key":"10.1016\/j.humpath.2017.07.012_bb0130","doi-asserted-by":"crossref","first-page":"3508","DOI":"10.1172\/JCI43621","article-title":"A beta(IV)-spectrin\/CaMKII signaling complex is essential for membrane excitability in mice","volume":"120","author":"Hund","year":"2010","journal-title":"J Clin Invest"},{"key":"10.1016\/j.humpath.2017.07.012_bb0135","first-page":"2414","article-title":"Regulation of fetal gene expression in heart failure","volume":"2013","author":"Dirkx","year":"1832","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.humpath.2017.07.012_bb0140","doi-asserted-by":"crossref","first-page":"e5","DOI":"10.1136\/jmg.2005.032904","article-title":"Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome","volume":"43","author":"Uzumcu","year":"2006","journal-title":"J Med Genet"},{"key":"10.1016\/j.humpath.2017.07.012_bb0145","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1083\/jcb.101.4.1442","article-title":"The complement of desmosomal plaque proteins in different cell types","volume":"101","author":"Cowin","year":"1985","journal-title":"J Cell Biol"},{"key":"10.1016\/j.humpath.2017.07.012_bb0150","doi-asserted-by":"crossref","first-page":"1744","DOI":"10.1136\/hrt.2011.227967","article-title":"Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study","volume":"97","author":"Garcia-Pavia","year":"2011","journal-title":"Heart"},{"key":"10.1016\/j.humpath.2017.07.012_bb0155","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1083\/jcb.138.1.193","article-title":"Direct Ca2+\u2212dependent heterophilic interaction between desmosomal cadherins, desmoglein and desmocollin, contributes to cell-cell adhesion","volume":"138","author":"Chitaev","year":"1997","journal-title":"J Cell Biol"},{"key":"10.1016\/j.humpath.2017.07.012_bb0160","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1093\/cvr\/cvs219","article-title":"Intercalated disc abnormalities, reduced Na(+) current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes","volume":"95","author":"Rizzo","year":"2012","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.humpath.2017.07.012_bb0165","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1093\/cvr\/cvu206","article-title":"Desmoglein-2 interaction is crucial for cardiomyocyte cohesion and function","volume":"104","author":"Schlipp","year":"2014","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.humpath.2017.07.012_bb0170","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1161\/CIRCGENETICS.114.000974","article-title":"Desmoglein 2-dependent arrhythmogenic cardiomyopathy is caused by a loss of adhesive function","volume":"8","author":"Kant","year":"2015","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1016\/j.humpath.2017.07.012_bb0175","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1172\/JCI62862","article-title":"Genetic mutations and mechanisms in dilated cardiomyopathy","volume":"123","author":"McNally","year":"2013","journal-title":"J Clin Invest"},{"key":"10.1016\/j.humpath.2017.07.012_bb0180","doi-asserted-by":"crossref","first-page":"14525","DOI":"10.1073\/pnas.0606383103","article-title":"Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function","volume":"103","author":"Schmitt","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.humpath.2017.07.012_bb0185","doi-asserted-by":"crossref","first-page":"2893","DOI":"10.1161\/CIRCULATIONAHA.107.746164","article-title":"Mutations in sarcomere protein genes in left ventricular noncompaction","volume":"117","author":"Klaassen","year":"2008","journal-title":"Circulation"}],"container-title":["Human Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0046817717302629?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0046817717302629?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,7,31]],"date-time":"2022-07-31T16:22:43Z","timestamp":1659284563000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0046817717302629"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9]]},"references-count":37,"alternative-id":["S0046817717302629"],"URL":"https:\/\/doi.org\/10.1016\/j.humpath.2017.07.012","relation":{},"ISSN":["0046-8177"],"issn-type":[{"value":"0046-8177","type":"print"}],"subject":[],"published":{"date-parts":[[2017,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Disturbed Desmoglein-2 in the intercalated disc of pediatric patients with dilated cardiomyopathy","name":"articletitle","label":"Article Title"},{"value":"Human Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.humpath.2017.07.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}