{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T17:42:35Z","timestamp":1793036555971,"version":"4.5.0"},"reference-count":73,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2022,10,5]],"date-time":"2022-10-05T00:00:00Z","timestamp":1664928000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of University and Research (MUR)","award":["CUP D26C18000260005"],"award-info":[{"award-number":["CUP D26C18000260005"]}]},{"name":"Italian Ministry of University and Research (MUR)","award":["CUP: D45F20002490001"],"award-info":[{"award-number":["CUP: D45F20002490001"]}]},{"name":"Italian Ministry of University and Research (MUR)","award":["CUP: B41C17000080007"],"award-info":[{"award-number":["CUP: B41C17000080007"]}]},{"name":"PON \u201cRicerca e Innovazione\u201d","award":["CUP D26C18000260005"],"award-info":[{"award-number":["CUP D26C18000260005"]}]},{"name":"PON \u201cRicerca e Innovazione\u201d","award":["CUP: D45F20002490001"],"award-info":[{"award-number":["CUP: D45F20002490001"]}]},{"name":"PON \u201cRicerca e Innovazione\u201d","award":["CUP: B41C17000080007"],"award-info":[{"award-number":["CUP: B41C17000080007"]}]},{"name":"PerMedNet project n. ARS01_01226","award":["CUP D26C18000260005"],"award-info":[{"award-number":["CUP D26C18000260005"]}]},{"name":"PerMedNet project n. ARS01_01226","award":["CUP: D45F20002490001"],"award-info":[{"award-number":["CUP: D45F20002490001"]}]},{"name":"PerMedNet project n. ARS01_01226","award":["CUP: B41C17000080007"],"award-info":[{"award-number":["CUP: B41C17000080007"]}]},{"name":"PRIN project \u201cEndothelial, platelet, and coagulation abnormalities in the pathophysiology of COVID-19 and their role on the development of clinical sequelae in the post-acute phase of the disease\u201d","award":["CUP D26C18000260005"],"award-info":[{"award-number":["CUP D26C18000260005"]}]},{"name":"PRIN project \u201cEndothelial, platelet, and coagulation abnormalities in the pathophysiology of COVID-19 and their role on the development of clinical sequelae in the post-acute phase of the disease\u201d","award":["CUP: D45F20002490001"],"award-info":[{"award-number":["CUP: D45F20002490001"]}]},{"name":"PRIN project \u201cEndothelial, platelet, and coagulation abnormalities in the pathophysiology of COVID-19 and their role on the development of clinical sequelae in the post-acute phase of the disease\u201d","award":["CUP: B41C17000080007"],"award-info":[{"award-number":["CUP: B41C17000080007"]}]},{"name":"Regione Campania POR Campania FESR 2014\/2020\u2013azione 1.5, project GENOMAeSALUTE","award":["CUP D26C18000260005"],"award-info":[{"award-number":["CUP D26C18000260005"]}]},{"name":"Regione Campania POR Campania FESR 2014\/2020\u2013azione 1.5, project GENOMAeSALUTE","award":["CUP: D45F20002490001"],"award-info":[{"award-number":["CUP: D45F20002490001"]}]},{"name":"Regione Campania POR Campania FESR 2014\/2020\u2013azione 1.5, project GENOMAeSALUTE","award":["CUP: B41C17000080007"],"award-info":[{"award-number":["CUP: B41C17000080007"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Dilated cardiomyopathy (DCM) is a complex disease affecting young adults. It is a pathological condition impairing myocardium activity that leads to heart failure and, in the most severe cases, transplantation, which is currently the only possible therapy for the disease. DCM can be attributed to many genetic determinants interacting with environmental factors, resulting in a highly variable phenotype. Due to this complexity, the early identification of causative gene mutations is an important goal to provide a genetic diagnosis, implement pre-symptomatic interventions, and predict prognosis. The advent of next-generation sequencing (NGS) has opened a new path for mutation screening, and exome sequencing provides a promising approach for identifying causal variants in known genes and novel disease-associated candidates. We analyzed the whole-exome sequencing (WES) of 15 patients affected by DCM without overloading (hypertension, valvular, or congenital heart disease) or chronic ischemic conditions. We identified 70 pathogenic or likely pathogenic variants and 1240 variants of uncertain clinical significance. Gene ontology enrichment analysis was performed to assess the potential connections between affected genes and biological or molecular function, identifying genes directly related to extracellular matrix organization, transcellular movement through the solute carrier and ATP-binding cassette transporter, and vitamin B12 metabolism. We found variants in genes implicated to a different extent in cardiac function that may represent new players in the complex genetic scenario of DCM.<\/jats:p>","DOI":"10.3390\/diagnostics12102411","type":"journal-article","created":{"date-parts":[[2022,10,8]],"date-time":"2022-10-08T01:52:21Z","timestamp":1665193941000},"page":"2411","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1890-6682","authenticated-orcid":false,"given":"Ylenia","family":"D\u2019Agostino","sequence":"first","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, 84081 Baronissi, Italy"},{"name":"Medical Genomics Program, AOU \u2018SS. Giovanni di Dio e Ruggi d\u2019Aragona\u2019, University of Salerno, 84131 Salerno, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5878-9428","authenticated-orcid":false,"given":"Domenico","family":"Palumbo","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, 84081 Baronissi, Italy"},{"name":"Clinical Research and Innovation, Clinica Montevergine S.p.A., 83013 Mercogliano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7112-6503","authenticated-orcid":false,"given":"Maria Rosaria","family":"Rusciano","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, 84081 Baronissi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oriana","family":"Strianese","sequence":"additional","affiliation":[{"name":"Clinical Research and Innovation, Clinica Montevergine S.p.A., 83013 Mercogliano, Italy"},{"name":"Genome Research Center for Health, Campus of Medicine, University of Salerno, 84081 Baronissi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Amabile","sequence":"additional","affiliation":[{"name":"Medical Genomics Program, AOU \u2018SS. Giovanni di Dio e Ruggi d\u2019Aragona\u2019, University of Salerno, 84131 Salerno, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Di Rosa","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, 84081 Baronissi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2830-2564","authenticated-orcid":false,"given":"Elena","family":"De Angelis","sequence":"additional","affiliation":[{"name":"Department of Cardiology and Intensive Care Unit, San Luca Hospital, 84078 Vallo della Lucania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2197-5355","authenticated-orcid":false,"given":"Valeria","family":"Visco","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, 84081 Baronissi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Russo","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, 84081 Baronissi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6220-6229","authenticated-orcid":false,"given":"Elena","family":"Alexandrova","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, 84081 Baronissi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9601-2975","authenticated-orcid":false,"given":"Annamaria","family":"Salvati","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, 84081 Baronissi, Italy"},{"name":"Medical Genomics Program, AOU \u2018SS. Giovanni di Dio e Ruggi d\u2019Aragona\u2019, University of Salerno, 84131 Salerno, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0538-8978","authenticated-orcid":false,"given":"Giorgio","family":"Giurato","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, 84081 Baronissi, Italy"},{"name":"Genome Research Center for Health, Campus of Medicine, University of Salerno, 84081 Baronissi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7453-1240","authenticated-orcid":false,"given":"Giovanni","family":"Nassa","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, 84081 Baronissi, Italy"},{"name":"Genome Research Center for Health, Campus of Medicine, University of Salerno, 84081 Baronissi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9668-3632","authenticated-orcid":false,"given":"Roberta","family":"Tarallo","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, 84081 Baronissi, Italy"},{"name":"Genome Research Center for Health, Campus of Medicine, University of Salerno, 84081 Baronissi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7265-7613","authenticated-orcid":false,"given":"Gennaro","family":"Galasso","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, 84081 Baronissi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2379-1960","authenticated-orcid":false,"given":"Michele","family":"Ciccarelli","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, 84081 Baronissi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0455-2083","authenticated-orcid":false,"given":"Alessandro","family":"Weisz","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, 84081 Baronissi, Italy"},{"name":"Medical Genomics Program, AOU \u2018SS. Giovanni di Dio e Ruggi d\u2019Aragona\u2019, University of Salerno, 84131 Salerno, Italy"},{"name":"Genome Research Center for Health, Campus of Medicine, University of Salerno, 84081 Baronissi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1783-5015","authenticated-orcid":false,"given":"Francesca","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, 84081 Baronissi, Italy"},{"name":"Genome Research Center for Health, Campus of Medicine, University of Salerno, 84081 Baronissi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,5]]},"reference":[{"key":"ref_1","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":"2007","journal-title":"Eur. Hear. J."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1016\/S0140-6736(09)62023-7","article-title":"Dilated cardiomyopathy","volume":"375","author":"Jefferies","year":"2010","journal-title":"Lancet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"e579","DOI":"10.1161\/CIR.0000000000000455","article-title":"Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association","volume":"134","author":"Bozkurt","year":"2016","journal-title":"Circulation"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/s41572-019-0084-1","article-title":"Dilated cardiomyopathy","volume":"5","author":"Schultheiss","year":"2019","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1111\/joim.12944","article-title":"Dilated cardiomyopathy: From epidemiologic to genetic phenotypes: A translational review of current literature","volume":"286","author":"Reichart","year":"2019","journal-title":"J. Intern. Med."},{"key":"ref_6","first-page":"15","article-title":"Genetic factors in dilated cardiomyopathy","volume":"89","author":"Mestroni","year":"1996","journal-title":"Arch. des Mal. du Coeur et des Vaiss."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1161\/CIRCRESAHA.116.309396","article-title":"Dilated Cardiomyopathy: Genetic Determinants and Mechanisms","volume":"121","author":"McNally","year":"2017","journal-title":"Circ. Res."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1007\/s10741-021-10139-0","article-title":"Dilated cardiomyopathy in the era of precision medicine: Latest concepts and developments","volume":"27","author":"Orphanou","year":"2021","journal-title":"Hear. Fail. Rev."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1053\/euhj.1998.1145","article-title":"Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy","volume":"20","author":"Mestroni","year":"1999","journal-title":"Eur. Heart J."},{"key":"ref_10","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":"ref_11","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. Investig."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1038\/gim.2013.204","article-title":"The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing","volume":"16","author":"Pugh","year":"2014","journal-title":"Genet. Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1093\/eurheartj\/ehv122","article-title":"The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: A viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics","volume":"36","author":"Mogensen","year":"2015","journal-title":"Eur. Hear. J."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Ciarambino, T., Menna, G., Sansone, G., and Giordano, M. (2021). Cardiomyopathies: An Overview. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22147722"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1038\/ejhg.2011.258","article-title":"Disease gene identification strategies for exome sequencing","volume":"20","author":"Gilissen","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/s41569-019-0284-0","article-title":"Genetics of dilated cardiomyopathy: Practical implications for heart failure management","volume":"17","author":"Rosenbaum","year":"2019","journal-title":"Nat. Rev. Cardiol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1161\/01.CIR.62.5.1054","article-title":"Echocardiographic measurements in normal subjects from infancy to old age","volume":"62","author":"Henry","year":"1980","journal-title":"Circulation"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"2114","DOI":"10.1093\/bioinformatics\/btu170","article-title":"Trimmomatic: A flexible trimmer for Illumina sequence data","volume":"30","author":"Bolger","year":"2014","journal-title":"Bioinformatics"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"1000 Genome Project Data Processing Subgroup. The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"ref_20","first-page":"11.10.1","article-title":"From FastQ Data to High-Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline","volume":"43","author":"Carneiro","year":"2013","journal-title":"Curr. Protoc. Bioinform."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","article-title":"VarSome: The human genomic variant search engine","volume":"35","author":"Kopanos","year":"2019","journal-title":"Bioinformatics"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"W199","DOI":"10.1093\/nar\/gkz401","article-title":"WebGestalt 2019: Gene set analysis toolkit with revamped UIs and APIs","volume":"47","author":"Liao","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1242\/jcs.109.5.1053","article-title":"SCO-spondin: A new member of the thrombospondin family secreted by the subcommissural organ is a candidate in the modulation of neuronal aggregation","volume":"109","author":"Gobron","year":"1996","journal-title":"J. Cell Sci."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1016\/S0006-3495(95)80278-X","article-title":"Passive tension in cardiac muscle: Contribution of collagen, titin, microtubules, and intermediate filaments","volume":"68","author":"Granzier","year":"1995","journal-title":"Biophys. J."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1007\/s00424-018-2191-3","article-title":"Unraveling obscurins in heart disease","volume":"471","author":"Grogan","year":"2018","journal-title":"Pflugers Arch."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1841","DOI":"10.1242\/jcs.028019","article-title":"Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band\u2014Implications for hereditary myopathies","volume":"121","author":"Fukuzawa","year":"2008","journal-title":"J. Cell Sci."},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Grabowski, K., Riemenschneider, M., Schulte, L., Witten, A., Schulz, A., Stoll, M., and Kreutz, R. (2015). Fetal-Adult Cardiac Transcriptome Analysis in Rats with Contrasting Left Ventricular Mass Reveals New Candidates for Cardiac Hypertrophy. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0116807"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"108330","DOI":"10.1016\/j.exer.2020.108330","article-title":"USH2A-retinopathy: From genetics to therapeutics","volume":"201","author":"Toualbi","year":"2020","journal-title":"Exp. Eye Res."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1450","DOI":"10.1093\/cvr\/cvaa324","article-title":"Cardiac fibrosis","volume":"117","author":"Frangogiannis","year":"2021","journal-title":"Cardiovasc. Res."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"S32","DOI":"10.1016\/j.jfda.2017.11.008","article-title":"Transporter-mediated natural product\u2013drug interactions for the treatment of cardiovascular diseases","volume":"26","author":"Zha","year":"2018","journal-title":"J. Food Drug Anal."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1260419","DOI":"10.1126\/science.1260419","article-title":"Tissue-based map of the human proteome","volume":"347","author":"Fagerberg","year":"2015","journal-title":"Science"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1002\/emmm.201302852","article-title":"Metabolic crosstalk between the heart and liver impacts familial hypertrophic cardiomyopathy","volume":"6","author":"Magida","year":"2014","journal-title":"EMBO Mol. Med."},{"key":"ref_34","first-page":"1450","article-title":"The role of CD36 in the regulation of myocardial lipid metabolism","volume":"1861","author":"Kim","year":"2016","journal-title":"Biochim. et Biophys. Acta (BBA) Mol. Cell Biol. Lipids"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1006\/jmcc.1996.0257","article-title":"Is CD36 deficiency an etiology of hereditary hypertrophic cardiomyopathy?","volume":"29","author":"Tanaka","year":"1997","journal-title":"J. Mol. Cell Cardiol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1253\/jcj.64.731","article-title":"Improvement in Cardiac Function and Free Fatty Acid Metabolism in a Case of Dilated Cardiomyopathy With CD36 Deficiency","volume":"64","author":"Hirooka","year":"2000","journal-title":"Jpn. Circ. J."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1016\/S0022-2275(20)31637-0","article-title":"Defect in human myocardial long-chain fatty acid uptake is caused by FAT\/CD36 mutations","volume":"42","author":"Tanaka","year":"2001","journal-title":"J. Lipid Res."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1152\/physiolgenomics.00078.2009","article-title":"Lack of periostin leads to suppression of Notch1 signaling and calcific aortic valve disease","volume":"39","author":"Tkatchenko","year":"2009","journal-title":"Physiol. Genom."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1806","DOI":"10.1161\/01.CIR.0000142607.33398.54","article-title":"Periostin as a Novel Factor Responsible for Ventricular Dilation","volume":"110","author":"Katsuragi","year":"2004","journal-title":"Circulation"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fgene.2021.719624","article-title":"Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis","volume":"12","author":"Komlosi","year":"2021","journal-title":"Front. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Lefeber, D.J., de Brouwer, A.P.M., Morava, E., Riemersma, M., Schuurs-Hoeijmakers, J.H.M., Absmanner, B., Verrijp, K., Akker, W.M.R.V.D., Huijben, K., and Steenbergen, G. (2011). Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation. PLoS Genet., 7.","DOI":"10.1371\/journal.pgen.1002427"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"2798","DOI":"10.1038\/s41375-020-0844-7","article-title":"ERBB2\/HER2 mutations are transforming and therapeutically targetable in leukemia","volume":"34","author":"Joshi","year":"2020","journal-title":"Leukemia"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1038\/nm0502-459","article-title":"ErbB2 is essential in the prevention of dilated cardiomyopathy","volume":"8","author":"Crone","year":"2002","journal-title":"Nat. Med."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"8880","DOI":"10.1073\/pnas.122249299","article-title":"Conditional mutation of the ErbB2 (HER2) receptor in cardiomyocytes leads to dilated cardiomyopathy","volume":"99","author":"Erdmann","year":"2002","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1161\/CIRCRESAHA.115.304356","article-title":"Actin Binding GFP Allows 4D In Vivo Imaging of Myofilament Dynamics in the Zebrafish Heart and the Identification of Erbb2 Signaling as a Remodeling Factor of Myofibril Architecture","volume":"115","author":"Reischauer","year":"2014","journal-title":"Circ. Res."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"2370","DOI":"10.2337\/db10-0550","article-title":"The Unconventional Role of Acid Sphingomyelinase in Regulation of Retinal Microangiopathy in Diabetic Human and Animal Models","volume":"60","author":"Opreanu","year":"2011","journal-title":"Diabetes"},{"key":"ref_47","first-page":"3108093","article-title":"Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder","volume":"2019","author":"Panigrahi","year":"2019","journal-title":"Case Rep. Genet."},{"key":"ref_48","doi-asserted-by":"crossref","unstructured":"Drevinge, C., Karlsson, L.O., St\u00e5hlman, M., Larsson, T., Perman Sundelin, J., Grip, L., Andersson, L., Bor\u00e9n, J., and Levin, M.C. (2013). Cholesteryl Esters Accumulate in the Heart in a Porcine Model of Ischemia and Reperfusion. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0061942"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1093\/cvr\/cvp399","article-title":"Exogenous and endogenous ceramides elicit volume-sensitive chloride current in ventricular myocytes","volume":"86","author":"Wijesinghe","year":"2010","journal-title":"Cardiovasc. Res."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"2101","DOI":"10.1194\/jlr.M800147-JLR200","article-title":"Ceramide is a cardiotoxin in lipotoxic cardiomyopathys","volume":"49","author":"Park","year":"2008","journal-title":"J. Lipid. Res."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"158","DOI":"10.4103\/ajm.AJM_78_17","article-title":"Cardiac manifestations of Familial Mediterranean fever","volume":"7","author":"Alsarah","year":"2017","journal-title":"Avicenna J. Med."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"9355","DOI":"10.1073\/pnas.0801294105","article-title":"Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex","volume":"105","author":"Ueda","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"550","DOI":"10.3109\/s10165-009-0196-7","article-title":"QT dispersion and transmural dispersion of repolarization in patients with familial Mediterranean fever","volume":"19","author":"Akcay","year":"2009","journal-title":"Mod. Rheumatol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1017\/S1047951111001867","article-title":"QT dispersion and cardiac involvement in children with Familial Mediterranean fever","volume":"22","author":"Koca","year":"2011","journal-title":"Cardiol. Young"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1007\/s00508-015-0714-x","article-title":"Relation of fragmented QRS to tissue Doppler-derived parametersin patients with familial Mediterranean fever","volume":"127","author":"Celik","year":"2015","journal-title":"Wien. Klin. Wochenschr."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"145306","DOI":"10.1016\/j.gene.2020.145306","article-title":"KALRN: A central regulator of synaptic function and synaptopathies","volume":"768","author":"Parnell","year":"2020","journal-title":"Gene"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.1100\/tsw.2010.148","article-title":"Kalirin-7 is a Key Player in the Formation of Excitatory Synapses in Hippocampal Neurons","volume":"10","author":"Ma","year":"2010","journal-title":"Sci. World J."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"2837","DOI":"10.1016\/j.ijcard.2013.03.192","article-title":"Heart failure entails significant changes in human nucleocytoplasmic transport gene expression","volume":"168","author":"Ortega","year":"2013","journal-title":"Int. J. Cardiol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1136\/heart.89.10.1255","article-title":"Interstitial fibrosis in the dilated non-ischaemic myocardium","volume":"89","author":"Brooks","year":"2003","journal-title":"Heart"},{"key":"ref_60","first-page":"41","article-title":"Extracellular matrix alterations in cardiomyopathy: The possible crucial role in the dilative form","volume":"6","author":"Kapelko","year":"2001","journal-title":"Exp. Clin. Cardiol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1007\/BF02957799","article-title":"Myocardial collagen network in dilated cardiomyopathy","volume":"160","author":"Heneghan","year":"1991","journal-title":"Ir. J. Med Sci."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1161\/CIRCRESAHA.110.222133","article-title":"Collagen XV Is Necessary for Modeling of the Extracellular Matrix and Its Deficiency Predisposes to Cardiomyopathy","volume":"107","author":"Rasi","year":"2010","journal-title":"Circ. Res."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1016\/j.ijcard.2016.06.253","article-title":"Characteristic adaptations of the extracellular matrix in dilated cardiomyopathy","volume":"220","author":"Vink","year":"2016","journal-title":"Int. J. Cardiol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fcvm.2022.797137","article-title":"ADAMTS8 Promotes Cardiac Fibrosis Partly Through Activating EGFR Dependent Pathway","volume":"9","author":"Zha","year":"2022","journal-title":"Front. Cardiovasc. Med."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"27","DOI":"10.2174\/1567201043480036","article-title":"The Role of ABC Transporters in Drug Resistance, Metabolism and Toxicity","volume":"1","author":"Glavinas","year":"2004","journal-title":"Curr. Drug Deliv."},{"key":"ref_66","doi-asserted-by":"crossref","unstructured":"Schumacher, T., and Benndorf, R.A. (2017). ABC Transport Proteins in Cardiovascular Disease\u2014A Brief Summary. Molecules, 22.","DOI":"10.3390\/molecules22040589"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"S3","DOI":"10.1152\/physrev.1999.79.1.S3","article-title":"Physiological Basis of Cystic Fibrosis: A Historical Perspective","volume":"79","author":"Quinton","year":"1999","journal-title":"Physiol. Rev."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.rmed.2016.07.011","article-title":"Heart involvement in cystic fibrosis: A specific cystic fibrosis-related myocardial changes?","volume":"118","author":"Labombarda","year":"2016","journal-title":"Respir. Med."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"103627","DOI":"10.1016\/j.mod.2020.103627","article-title":"CFTR deficiency causes cardiac dysplasia during zebrafish embryogenesis and is associated with dilated cardiomyopathy","volume":"163","author":"Liu","year":"2020","journal-title":"Mech. Dev."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1124\/dmd.119.086611","article-title":"Overview of the Components of Cardiac Metabolism","volume":"47","author":"Hausner","year":"2019","journal-title":"Drug Metab. Dispos."},{"key":"ref_71","first-page":"14","article-title":"An Unusual Treatable Cause of Reversible Cardiomyopathy: Vitamin B12 Deficiency","volume":"6","author":"Nhiri","year":"2020","journal-title":"ARC J. Cardiol."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"1634","DOI":"10.1016\/0735-1097(95)00049-A","article-title":"The coagulation system is activated in idiopathic cardiomyopathy","volume":"25","author":"Yamamoto","year":"1995","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1016\/j.ijcard.2016.11.176","article-title":"Tissue thrombin is associated with the pathogenesis of dilated cardiomyopathy","volume":"228","author":"Ito","year":"2016","journal-title":"Int. J. Cardiol."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/12\/10\/2411\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:46:54Z","timestamp":1760143614000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/12\/10\/2411"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,5]]},"references-count":73,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2022,10]]}},"alternative-id":["diagnostics12102411"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics12102411","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,5]]}}}