{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T11:13:32Z","timestamp":1791026012869,"version":"4.1.0"},"reference-count":28,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2016,2,1]],"date-time":"2016-02-01T00:00:00Z","timestamp":1454284800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,2,9]],"date-time":"2017-02-09T00:00:00Z","timestamp":1486598400000},"content-version":"vor","delay-in-days":374,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the American College of Cardiology"],"published-print":{"date-parts":[[2016,2]]},"DOI":"10.1016\/j.jacc.2015.10.093","type":"journal-article","created":{"date-parts":[[2016,2,1]],"date-time":"2016-02-01T15:03:37Z","timestamp":1454339017000},"page":"515-525","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":105,"title":["Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy"],"prefix":"10.1016","volume":"67","author":[{"given":"Rowida","family":"Almomani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith M.A.","family":"Verhagen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna C.","family":"Herkert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erwin","family":"Brosens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin Y.","family":"van Spaendonck-Zwarts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angeliki","family":"Asimaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul A.","family":"van der Zwaag","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid M.E.","family":"Frohn-Mulder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aida M.","family":"Bertoli-Avella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludolf G.","family":"Boven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjon A.","family":"van Slegtenhorst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasper J.","family":"van der Smagt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilfred F.J.","family":"van IJcken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert","family":"Timmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margriet","family":"van Stuijvenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rob M.","family":"Verdijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey E.","family":"Saffitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederik A.","family":"du Plessis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Michels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert M.W.","family":"Hofstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Sinke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Peter","family":"van Tintelen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marja W.","family":"Wessels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan D.H.","family":"Jongbloed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid M.B.H.","family":"van de Laar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jacc.2015.10.093_bib1","doi-asserted-by":"crossref","first-page":"1647","DOI":"10.1056\/NEJMoa021715","article-title":"The incidence of pediatric cardiomyopathy in two regions of the United States","volume":"348","author":"Lipshultz","year":"2003","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.jacc.2015.10.093_bib2","doi-asserted-by":"crossref","first-page":"2671","DOI":"10.1161\/CIRCULATIONAHA.106.635128","article-title":"Clinical features and outcomes of childhood dilated cardiomyopathy: results from a national population-based study","volume":"114","author":"Daubeney","year":"2006","journal-title":"Circulation"},{"key":"10.1016\/j.jacc.2015.10.093_bib3","doi-asserted-by":"crossref","first-page":"1867","DOI":"10.1001\/jama.296.15.1867","article-title":"Incidence,\u00a0causes, and outcomes of dilated cardiomyopathy in children","volume":"296","author":"Towbin","year":"2006","journal-title":"JAMA"},{"key":"10.1016\/j.jacc.2015.10.093_bib4","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1093\/eurheartj\/ehm342","article-title":"Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases","volume":"29","author":"Elliott","year":"2008","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jacc.2015.10.093_bib5","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/j.cardfail.2012.01.017","article-title":"Pediatric\u00a0cardiomyopathy: importance of genetic and metabolic evaluation","volume":"18","author":"Kindel","year":"2012","journal-title":"J\u00a0Card Fail"},{"key":"10.1016\/j.jacc.2015.10.093_bib6","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.jacc.2015.10.093_bib7","doi-asserted-by":"crossref","first-page":"W516","DOI":"10.1093\/nar\/gks487","article-title":"HomozygosityMapper2012\u2014bridging the gap between homozygosity mapping and deep sequencing","volume":"40","author":"Seelow","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jacc.2015.10.093_bib8","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/ejhg.2013.118","article-title":"The Genome of the Netherlands: design, and project goals","volume":"22","author":"Boomsma","year":"2014","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jacc.2015.10.093_bib9","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/nature11632","article-title":"An integrated map of genetic variation from 1,092 human genomes","volume":"491","author":"Abecasis","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.jacc.2015.10.093_bib10","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","article-title":"Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion","volume":"15","author":"den Dunnen","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jacc.2015.10.093_bib11","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1101\/gr.176601","article-title":"Predicting deleterious amino acid substitutions","volume":"11","author":"Ng","year":"2001","journal-title":"Genome Res"},{"key":"10.1016\/j.jacc.2015.10.093_bib12","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A\u00a0method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1016\/j.jacc.2015.10.093_bib13","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat Methods"},{"key":"10.1016\/j.jacc.2015.10.093_bib14","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1056\/NEJMoa0808138","article-title":"A\u00a0new diagnostic test for arrhythmogenic right ventricular cardiomyopathy","volume":"360","author":"Asimaki","year":"2009","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.jacc.2015.10.093_bib15","doi-asserted-by":"crossref","first-page":"35978","DOI":"10.1074\/jbc.M100485200","article-title":"A\u00a0novel myocyte-specific gene Midori promotes the differentiation of P19CL6 cells into cardiomyocytes","volume":"276","author":"Hosoda","year":"2001","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.jacc.2015.10.093_bib16","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1007\/s00018-009-0215-z","article-title":"The alpha-kinase family: an exceptional branch on the protein kinase tree","volume":"67","author":"Middelbeek","year":"2010","journal-title":"Cell Mol Life Sci"},{"key":"10.1016\/j.jacc.2015.10.093_bib17","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0079-6107(03)00060-9","article-title":"Alpha-kinases: analysis of the family and comparison with conventional protein kinases","volume":"85","author":"Drennan","year":"2004","journal-title":"Prog Biophys Mol Biol"},{"key":"10.1016\/j.jacc.2015.10.093_bib18","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1177\/0300985811402841","article-title":"Cardiomyopathy in alpha-kinase 3 (ALPK3)-deficient mice","volume":"49","author":"Van Sligtenhorst","year":"2012","journal-title":"Vet Pathol"},{"key":"10.1016\/j.jacc.2015.10.093_bib19","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.amjcard.2011.08.044","article-title":"Usefulness of immunostaining for plakoglobin as a diagnostic marker of arrhythmogenic right ventricular cardiomyopathy","volume":"109","author":"Munkholm","year":"2012","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.jacc.2015.10.093_bib20","doi-asserted-by":"crossref","first-page":"2012","DOI":"10.1172\/JCI27751","article-title":"Suppression of canonical Wnt\/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy","volume":"116","author":"Garcia-Gras","year":"2006","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.jacc.2015.10.093_bib21","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1016\/j.hrthm.2010.04.023","article-title":"Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks","volume":"7","author":"Otten","year":"2010","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.jacc.2015.10.093_bib22","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/B978-0-12-387786-4.00008-7","article-title":"Transcription factor pathways and congenital heart disease","volume":"100","author":"McCulley","year":"2012","journal-title":"Curr Top Dev Biol"},{"key":"10.1016\/j.jacc.2015.10.093_bib23","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/S0092-8674(04)00405-2","article-title":"Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block","volume":"117","author":"Pashmforoush","year":"2004","journal-title":"Cell"},{"key":"10.1016\/j.jacc.2015.10.093_bib24","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/j.bbrc.2013.09.023","article-title":"GATA4 loss-of-function mutation underlies familial dilated cardiomyopathy","volume":"439","author":"Li","year":"2013","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.jacc.2015.10.093_bib25","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.3892\/ijmm.2014.1896","article-title":"GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy","volume":"34","author":"Xu","year":"2014","journal-title":"Int J Mol Med"},{"key":"10.1016\/j.jacc.2015.10.093_bib26","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.bbrc.2015.02.094","article-title":"TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy","volume":"459","author":"Zhang","year":"2015","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.jacc.2015.10.093_bib27","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1086\/519530","article-title":"Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy","volume":"81","author":"Kirk","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jacc.2015.10.093_bib28","doi-asserted-by":"crossref","first-page":"H2680","DOI":"10.1152\/ajpheart.00806.2007","article-title":"Loss of mXinalpha, an intercalated disk protein, results in cardiac hypertrophy and cardiomyopathy with conduction defects","volume":"293","author":"Gustafson-Wagner","year":"2007","journal-title":"Am J Physiol Heart Circ Physiol"}],"container-title":["Journal of the American College of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0735109715076287?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0735109715076287?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,9,4]],"date-time":"2019-09-04T01:21:00Z","timestamp":1567560060000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0735109715076287"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2]]},"references-count":28,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,2]]}},"alternative-id":["S0735109715076287"],"URL":"https:\/\/doi.org\/10.1016\/j.jacc.2015.10.093","relation":{},"ISSN":["0735-1097"],"issn-type":[{"value":"0735-1097","type":"print"}],"subject":[],"published":{"date-parts":[[2016,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy","name":"articletitle","label":"Article Title"},{"value":"Journal of the American College of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jacc.2015.10.093","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}