{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T16:45:59Z","timestamp":1762101959625,"version":"build-2065373602"},"reference-count":100,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,1,28]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>The zinc finger transcription factor CASZ1 plays a key role in cardiac development and postnatal adaptation, and in mice, deletion of the<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>The coding exons and splicing junction sites of the<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>A novel heterozygous CASZ1 mutation, p.K351X, was identified in an index patient with DCM. Genetic analysis of the mutation carrier\u2019s family showed that the mutation co-segregated with DCM, which was transmitted in an autosomal dominant pattern with complete penetrance. The nonsense mutation, which was absent in 400 referential chromosomes, altered the amino acid that was highly conserved evolutionarily. Biological investigations revealed that the mutant CASZ1 had no transcriptional activity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>The current study reveals<\/jats:p><\/jats:sec>","DOI":"10.1515\/cclm-2016-0612","type":"journal-article","created":{"date-parts":[[2017,1,18]],"date-time":"2017-01-18T10:01:42Z","timestamp":1484733702000},"source":"Crossref","is-referenced-by-count":26,"title":["CASZ1 loss-of-function mutation contributes to familial dilated cardiomyopathy"],"prefix":"10.1515","volume":"55","author":[{"given":"Xing-Biao","family":"Qiu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin-Kai","family":"Qu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruo-Gu","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying-Jia","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong-Yu","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xu-Min","family":"Hou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Min","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ri-Tai","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Song","family":"Xue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Qing","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref951","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1002\/dvdy.24126","article-title":"Differential regulation of CASZ1 protein expression during cardiac and skeletal muscle development","volume":"243","year":"2014","journal-title":"Dev Dyn"},{"key":"ref561","doi-asserted-by":"crossref","first-page":"2165","DOI":"10.1093\/eurheartj\/ehu050","article-title":"Titin gene mutations are common in families with both peripartum cardiomyopathy anddilated cardiomyopathy","volume":"35","year":"2014","journal-title":"Eur Heart J"},{"key":"ref321","first-page":"325","article-title":"TBX20 loss-of-function mutation associated with familial dilated cardiomyopathy","volume":"54","year":"2016","journal-title":"Clin Chem Lab Med"},{"key":"ref111","first-page":"307","article-title":"The tumor necrosis factor-\u03b1 -238G\/A and IL-6 -572G\/C gene polymorphisms and the risk of idiopathic dilated cardiomyopathy: a meta-analysis of 25 studies including 9493 cases and 13,971 controls","volume":"53","year":"2015","journal-title":"Clin Chem Lab Med"},{"key":"ref831","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1515\/cclm-2015-0766","article-title":"HAND1 loss-of-function mutation associated with familial dilated cardiomyopathy","volume":"54","year":"2016","journal-title":"Clin Chem Lab Med"},{"key":"ref551","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.ajhg.2013.05.015","article-title":"Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy","volume":"93","year":"2013","journal-title":"Am J Hum Genet"},{"key":"ref811","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","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref361","first-page":"189","article-title":"1p36 deletion syndrome: an update","volume":"8","year":"2015","journal-title":"Appl Clin Genet"},{"key":"ref461","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1016\/j.devcel.2008.01.009","article-title":"Vertebrate CASTOR is required for differentiation of cardiac precursor cells at the ventral midline","volume":"14","year":"2008","journal-title":"Dev Cell"},{"key":"ref611","first-page":"307","article-title":"The tumor necrosis factor-\u03b1 -238G\/A and IL-6 -572G\/C gene polymorphisms and the risk of idiopathic dilated cardiomyopathy: a meta-analysis of 25 studies including 9493 cases and 13,971 controls","volume":"53","year":"2015","journal-title":"Clin Chem Lab Med"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1038\/ng.2963","article-title":"RAF1 mutations in childhood-onset dilated cardiomyopathy","volume":"46","year":"2014","journal-title":"Nat Genet"},{"key":"ref241","doi-asserted-by":"crossref","first-page":"478","DOI":"10.3892\/ijmm.2014.2029","article-title":"A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias","volume":"35","year":"2015","journal-title":"Int J Mol Med"},{"key":"ref781","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","year":"2014","journal-title":"Int J Mol Med"},{"key":"ref851","doi-asserted-by":"crossref","first-page":"2037","DOI":"10.1242\/dev.119107","article-title":"Casz1 is required for cardiomyocyte G1-to-S phase progression during mammalian cardiac development","volume":"142","year":"2015","journal-title":"Development"},{"key":"ref731","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1161\/CIRCGENETICS.113.000057","article-title":"Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy","volume":"6","year":"2013","journal-title":"Circ Cardiovasc Genet"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"517","DOI":"10.2217\/bmm.13.77","article-title":"Genetics in dilated cardiomyopathy","volume":"7","year":"2013","journal-title":"Biomark Med"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1016\/j.healun.2015.12.014","article-title":"Inherited Cardiac Diseases Program of the Spanish Cardiovascular Research Network (Red Investigaci\u00f3n Cardiovascular). Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation","volume":"35","year":"2016","journal-title":"J Heart Lung Transplant"},{"key":"ref391","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1007\/s00246-012-0482-6","article-title":"GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect","volume":"34","year":"2013","journal-title":"Pediatr Cardiol"},{"key":"ref821","first-page":"325","article-title":"TBX20 loss-of-function mutation associated with familial dilated cardiomyopathy","volume":"54","year":"2016","journal-title":"Clin Chem Lab Med"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.semcdb.2006.11.012","article-title":"Re-employment of developmental transcription factors in adult heart disease","volume":"18","year":"2007","journal-title":"Semin Cell Dev Biol"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/S1050-1738(98)00033-4","article-title":"HAND proteins: molecular mediators of cardiac development and congenital heart disease","volume":"9","year":"1999","journal-title":"Trends Cardiovasc Med"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"2327","DOI":"10.1093\/eurheartj\/ehv253","article-title":"Genetics and genotype-phenotype correlations in Finnish patients withdilated cardiomyopathy","volume":"36","year":"2015","journal-title":"Eur Heart J"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1093\/eurheartj\/ehu301","article-title":"Atlas of the clinical genetics of humandilated cardiomyopathy","volume":"36","year":"2015","journal-title":"Eur Heart J"},{"key":"ref861","first-page":"189","article-title":"1p36 deletion syndrome: an update","volume":"8","year":"2015","journal-title":"Appl Clin Genet"},{"key":"ref411","doi-asserted-by":"crossref","first-page":"27628","DOI":"10.18632\/oncotarget.4733","article-title":"Zinc finger transcription factor CASZ1 interacts with histones, DNA repair proteins and recruits NuRD complex to regulate gene transcription","volume":"6","year":"2015","journal-title":"Oncotarget"},{"key":"ref941","doi-asserted-by":"crossref","first-page":"32170","DOI":"10.1074\/jbc.M405024200","article-title":"Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay","volume":"279","year":"2004","journal-title":"J Biol Chem"},{"key":"ref331","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1515\/cclm-2015-0766","article-title":"HAND1 loss-of-function mutation associated with familial dilated cardiomyopathy","volume":"54","year":"2016","journal-title":"Clin Chem Lab Med"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"763","DOI":"10.3892\/ijmm.2014.2050","article-title":"GATA5 loss-of-function mutation in familial dilated cardiomyopathy","volume":"35","year":"2015","journal-title":"Int J Mol Med"},{"key":"ref631","doi-asserted-by":"crossref","first-page":"2327","DOI":"10.1093\/eurheartj\/ehv253","article-title":"Genetics and genotype-phenotype correlations in Finnish patients withdilated cardiomyopathy","volume":"36","year":"2015","journal-title":"Eur Heart J"},{"key":"ref791","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","year":"2015","journal-title":"Biochem Biophys Res Commun"},{"key":"ref451","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1002\/dvdy.24126","article-title":"Differential regulation of CASZ1 protein expression during cardiac and skeletal muscle development","volume":"243","year":"2014","journal-title":"Dev Dyn"},{"key":"ref971","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/j.bbrc.2006.03.207","article-title":"Molecular cloning and characterization of human Castor, a novel human gene upregulated during cell differentiation","volume":"344","year":"2006","journal-title":"Biochem Biophys Res Commun"},{"key":"ref751","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","year":"2013","journal-title":"Biochem Biophys Res Commun"},{"key":"ref641","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.3892\/ijmm.2015.2361","article-title":"Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy","volume":"36","year":"2015","journal-title":"Int J Mol Med"},{"key":"ref701","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/S1050-1738(98)00033-4","article-title":"HAND proteins: molecular mediators of cardiac development and congenital heart disease","volume":"9","year":"1999","journal-title":"Trends Cardiovasc Med"},{"key":"ref721","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","year":"2012","journal-title":"Curr Top Dev Biol"},{"key":"ref481","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1038\/nature12141","article-title":"De novo mutations in histone-modifying genes in congenital heart disease","volume":"498","year":"2013","journal-title":"Nature"},{"key":"ref961","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1016\/j.devcel.2008.01.009","article-title":"Vertebrate CASTOR is required for differentiation of cardiac precursor cells at the ventral midline","volume":"14","year":"2008","journal-title":"Dev Cell"},{"key":"ref301","doi-asserted-by":"crossref","first-page":"282","DOI":"10.3892\/ijmm.2015.2206","article-title":"A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy","volume":"36","year":"2015","journal-title":"Int J Mol Med"},{"key":"ref771","doi-asserted-by":"crossref","first-page":"763","DOI":"10.3892\/ijmm.2014.2050","article-title":"GATA5 loss-of-function mutation in familial dilated cardiomyopathy","volume":"35","year":"2015","journal-title":"Int J Mol Med"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.gene.2014.07.022","article-title":"Prevalence and spectrum of GATA4 mutations associated with sporadic dilated cardiomyopathy","volume":"548","year":"2014","journal-title":"Gene"},{"key":"ref401","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.brainres.2009.06.086","article-title":"Functional consequences of genetic variation in primates on tyrosine hydroxylase (TH) expression in vitro","volume":"1288","year":"2009","journal-title":"Brain Res"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.3892\/ijmm.2015.2361","article-title":"Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy","volume":"36","year":"2015","journal-title":"Int J Mol Med"},{"key":"ref521","doi-asserted-by":"crossref","first-page":"517","DOI":"10.2217\/bmm.13.77","article-title":"Genetics in dilated cardiomyopathy","volume":"7","year":"2013","journal-title":"Biomark Med"},{"key":"ref531","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","year":"2013","journal-title":"Nat Rev Cardiol"},{"key":"ref581","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1016\/j.celrep.2014.07.027","article-title":"Perturbation of NCOA6 leads todilated cardiomyopathy","volume":"8","year":"2014","journal-title":"Cell Rep"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1161\/CIRCGENETICS.113.000057","article-title":"Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy","volume":"6","year":"2013","journal-title":"Circ Cardiovasc Genet"},{"key":"ref291","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","year":"2015","journal-title":"Biochem Biophys Res Commun"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1016\/j.celrep.2014.07.027","article-title":"Perturbation of NCOA6 leads todilated cardiomyopathy","volume":"8","year":"2014","journal-title":"Cell Rep"},{"key":"ref441","doi-asserted-by":"crossref","first-page":"32170","DOI":"10.1074\/jbc.M405024200","article-title":"Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay","volume":"279","year":"2004","journal-title":"J Biol Chem"},{"key":"ref421","doi-asserted-by":"crossref","first-page":"1518","DOI":"10.1128\/MCB.06039-11","article-title":"Characterization of critical domains within the tumor suppressor CASZ1 required for transcriptional regulation and growth suppression","volume":"32","year":"2012","journal-title":"Mol Cell Biol"},{"key":"ref691","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1093\/cvr\/cvr112","article-title":"Mechanisms of T-box gene function in the developing heart","volume":"91","year":"2011","journal-title":"Cardiovasc Res"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1002\/humu.22759","article-title":"Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia","volume":"36","year":"2015","journal-title":"Hum Mutat"},{"key":"ref931","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1038\/nrm4063","article-title":"Nonsense-mediated mRNA decay: an intricate machinery that shapes transcriptomes","volume":"16","year":"2015","journal-title":"Nat Rev Mol Cell Biol"},{"key":"ref591","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1093\/eurheartj\/ehu301","article-title":"Atlas of the clinical genetics of humandilated cardiomyopathy","volume":"36","year":"2015","journal-title":"Eur Heart J"},{"key":"ref341","doi-asserted-by":"crossref","first-page":"29801","DOI":"10.1074\/jbc.M114.570416","article-title":"Essential role of the zinc finger transcription factor Casz1 for mammalian cardiac morphogenesis and development","volume":"289","year":"2014","journal-title":"J Biol Chem"},{"key":"ref621","doi-asserted-by":"crossref","first-page":"3718","DOI":"10.3892\/mmr.2015.3843","article-title":"Prevalence and spectrum of LRRC10 mutations associated with idiopathicdilated cardiomyopathy","volume":"12","year":"2015","journal-title":"Mol Med Rep"},{"key":"ref351","doi-asserted-by":"crossref","first-page":"2037","DOI":"10.1242\/dev.119107","article-title":"Casz1 is required for cardiomyocyte G1-to-S phase progression during mammalian cardiac development","volume":"142","year":"2015","journal-title":"Development"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.ajhg.2014.07.004","article-title":"SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy","volume":"95","year":"2014","journal-title":"Am J Hum Genet"},{"key":"ref881","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1161\/CIRCGENETICS.110.937805","article-title":"Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy","volume":"3","year":"2010","journal-title":"Circ Cardiovasc Genet"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.ajhg.2013.05.015","article-title":"Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy","volume":"93","year":"2013","journal-title":"Am J Hum Genet"},{"key":"ref431","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1038\/nrm4063","article-title":"Nonsense-mediated mRNA decay: an intricate machinery that shapes transcriptomes","volume":"16","year":"2015","journal-title":"Nat Rev Mol Cell Biol"},{"key":"ref161","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/s13059-015-0861-4","article-title":"FBXO32, encoding a member of the SCF complex, is mutated indilated cardiomyopathy","volume":"17","year":"2016","journal-title":"Genome Biol"},{"key":"ref501","first-page":"270","article-title":"Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases","volume":"29","year":"2008","journal-title":"Eur Heart J"},{"key":"ref651","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1016\/j.healun.2015.12.014","article-title":"Inherited Cardiac Diseases Program of the Spanish Cardiovascular Research Network (Red Investigaci\u00f3n Cardiovascular). Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation","volume":"35","year":"2016","journal-title":"J Heart Lung Transplant"},{"key":"ref841","doi-asserted-by":"crossref","first-page":"29801","DOI":"10.1074\/jbc.M114.570416","article-title":"Essential role of the zinc finger transcription factor Casz1 for mammalian cardiac morphogenesis and development","volume":"289","year":"2014","journal-title":"J Biol Chem"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/j.pharmthera.2005.03.005","article-title":"Cardiac transcription factor Csx\/Nkx2-5: its role in cardiac development and diseases","volume":"107","year":"2005","journal-title":"Pharmacol Ther"},{"key":"ref281","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","year":"2014","journal-title":"Int J Mol Med"},{"key":"ref761","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.gene.2014.07.022","article-title":"Prevalence and spectrum of GATA4 mutations associated with sporadic dilated cardiomyopathy","volume":"548","year":"2014","journal-title":"Gene"},{"key":"ref801","doi-asserted-by":"crossref","first-page":"282","DOI":"10.3892\/ijmm.2015.2206","article-title":"A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy","volume":"36","year":"2015","journal-title":"Int J Mol Med"},{"key":"ref221","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","year":"2012","journal-title":"Curr Top Dev Biol"},{"key":"ref31","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","year":"2013","journal-title":"Nat Rev Cardiol"},{"key":"ref471","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/j.bbrc.2006.03.207","article-title":"Molecular cloning and characterization of human Castor, a novel human gene upregulated during cell differentiation","volume":"344","year":"2006","journal-title":"Biochem Biophys Res Commun"},{"key":"ref601","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1002\/humu.22759","article-title":"Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia","volume":"36","year":"2015","journal-title":"Hum Mutat"},{"key":"ref491","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1158\/0008-5472.CAN-11-0961","article-title":"EZH2 mediates epigenetic silencing of neuroblastoma suppressor genes CASZ1, CLU, RUNX3, and NGFR","volume":"72","year":"2012","journal-title":"Cancer Res"},{"key":"ref741","doi-asserted-by":"crossref","first-page":"478","DOI":"10.3892\/ijmm.2014.2029","article-title":"A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias","volume":"35","year":"2015","journal-title":"Int J Mol Med"},{"key":"ref671","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/j.pharmthera.2005.03.005","article-title":"Cardiac transcription factor Csx\/Nkx2-5: its role in cardiac development and diseases","volume":"107","year":"2005","journal-title":"Pharmacol Ther"},{"key":"ref891","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1007\/s00246-012-0482-6","article-title":"GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect","volume":"34","year":"2013","journal-title":"Pediatr Cardiol"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1172\/JCI62862","article-title":"Genetic mutations and mechanisms in dilated cardiomyopathy","volume":"123","year":"2013","journal-title":"J Clin Invest"},{"key":"ref921","doi-asserted-by":"crossref","first-page":"1518","DOI":"10.1128\/MCB.06039-11","article-title":"Characterization of critical domains within the tumor suppressor CASZ1 required for transcriptional regulation and growth suppression","volume":"32","year":"2012","journal-title":"Mol Cell Biol"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"3718","DOI":"10.3892\/mmr.2015.3843","article-title":"Prevalence and spectrum of LRRC10 mutations associated with idiopathicdilated cardiomyopathy","volume":"12","year":"2015","journal-title":"Mol Med Rep"},{"key":"ref311","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","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref981","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1038\/nature12141","article-title":"De novo mutations in histone-modifying genes in congenital heart disease","volume":"498","year":"2013","journal-title":"Nature"},{"key":"ref571","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.ajhg.2014.07.004","article-title":"SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy","volume":"95","year":"2014","journal-title":"Am J Hum Genet"},{"key":"ref251","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","year":"2013","journal-title":"Biochem Biophys Res Commun"},{"key":"ref711","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.semcdb.2006.11.012","article-title":"Re-employment of developmental transcription factors in adult heart disease","volume":"18","year":"2007","journal-title":"Semin Cell Dev Biol"},{"key":"ref541","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1172\/JCI62862","article-title":"Genetic mutations and mechanisms in dilated cardiomyopathy","volume":"123","year":"2013","journal-title":"J Clin Invest"},{"key":"ref371","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.gene.2016.09.044","article-title":"CASZ1 loss-of-function mutation associated with congenital heart disease","volume":"595","year":"2016","journal-title":"Gene"},{"key":"ref01","first-page":"270","article-title":"Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases","volume":"29","year":"2008","journal-title":"Eur Heart J"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1093\/cvr\/cvr112","article-title":"Mechanisms of T-box gene function in the developing heart","volume":"91","year":"2011","journal-title":"Cardiovasc Res"},{"key":"ref681","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.cardiores.2004.03.025","article-title":"GATA transcription factors in the developing and adult heart","volume":"63","year":"2004","journal-title":"Cardiovasc Res"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.cardiores.2004.03.025","article-title":"GATA transcription factors in the developing and adult heart","volume":"63","year":"2004","journal-title":"Cardiovasc Res"},{"key":"ref511","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1038\/ng.2963","article-title":"RAF1 mutations in childhood-onset dilated cardiomyopathy","volume":"46","year":"2014","journal-title":"Nat Genet"},{"key":"ref381","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1161\/CIRCGENETICS.110.937805","article-title":"Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy","volume":"3","year":"2010","journal-title":"Circ Cardiovasc Genet"},{"key":"ref911","doi-asserted-by":"crossref","first-page":"27628","DOI":"10.18632\/oncotarget.4733","article-title":"Zinc finger transcription factor CASZ1 interacts with histones, DNA repair proteins and recruits NuRD complex to regulate gene transcription","volume":"6","year":"2015","journal-title":"Oncotarget"},{"key":"ref661","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/s13059-015-0861-4","article-title":"FBXO32, encoding a member of the SCF complex, is mutated indilated cardiomyopathy","volume":"17","year":"2016","journal-title":"Genome Biol"},{"key":"ref871","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.gene.2016.09.044","article-title":"CASZ1 loss-of-function mutation associated with congenital heart disease","volume":"595","year":"2016","journal-title":"Gene"},{"key":"ref991","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1158\/0008-5472.CAN-11-0961","article-title":"EZH2 mediates epigenetic silencing of neuroblastoma suppressor genes CASZ1, CLU, RUNX3, and NGFR","volume":"72","year":"2012","journal-title":"Cancer Res"},{"key":"ref901","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.brainres.2009.06.086","article-title":"Functional consequences of genetic variation in primates on tyrosine hydroxylase (TH) expression in vitro","volume":"1288","year":"2009","journal-title":"Brain Res"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"2165","DOI":"10.1093\/eurheartj\/ehu050","article-title":"Titin gene mutations are common in families with both peripartum cardiomyopathy anddilated cardiomyopathy","volume":"35","year":"2014","journal-title":"Eur Heart J"}],"container-title":["Clinical Chemistry and Laboratory Medicine (CCLM)"],"original-title":[],"link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/cclm.2017.55.issue-9\/cclm-2016-0612\/cclm-2016-0612.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/cclm-2016-0612\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T20:21:04Z","timestamp":1692649264000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/cclm-2016-0612\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,1]]},"references-count":100,"journal-issue":{"issue":"9"},"URL":"https:\/\/doi.org\/10.1515\/cclm-2016-0612","relation":{},"ISSN":["1437-4331","1434-6621"],"issn-type":[{"type":"electronic","value":"1437-4331"},{"type":"print","value":"1434-6621"}],"subject":[],"published":{"date-parts":[[2017,1,1]]}}}