{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T09:30:21Z","timestamp":1776763821483,"version":"3.51.2"},"reference-count":118,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T00:00:00Z","timestamp":1755043200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"The Natural Science Foundation of Minhang District, Shanghai, China","award":["2024MHZ015"],"award-info":[{"award-number":["2024MHZ015"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background\/Objectives: Dilated cardiomyopathy (DCM), defined as dilation and contractile dysfunction of the left or both cardiac ventricles, remains the most common category of primary myocardial disease worldwide. It is the most prevalent cause of chronic heart failure and the most common indication for cardiac transplantation in young subjects. Accumulating evidence increasingly highlights the substantial genetic defects underlying DCM. Nevertheless, the genetic ingredients accountable for DCM in a major percentage of patients remain indefinite. Methods: A multigenerational pedigree suffering from DCM and a total of 276 healthy volunteers employed as controls were recruited from the Chinese Han-ethnicity population. A whole-exome sequencing (WES) assay followed by a Sanger sequencing analysis of the genomic DNAs from the available family members was implemented. Functional characterization of the identified genetic variant was completed by dual-luciferase analysis. Results: A new heterozygous variation in the ETS1 (erythroblast transformation-specific 1) gene, NM_005238.4:c.447T&gt;G;p.(Tyr149*), was identified by WES and validated by Sanger sequencing analysis to co-segregate with DCM in the whole DCM family. This nonsense ETS1 variant was not found in 276 control subjects. Functional examination elucidated that Tyr149*-mutant ETS1 lost the ability to transactivate its downstream target genes CLDN5 (claudin 5) and ALK1 (activin receptor-like kinase 1), two genes crucial for cardiovascular embryonic development and postnatal structural remodeling. Conclusions: The present investigation reveals ETS1 as a new gene predisposed to human DCM and indicates ETS1 haploinsufficiency as an alternative molecular pathogenesis underlying DCM, providing a potential molecular target for genetic counseling and early diagnosis as well as personalized prophylaxis of DCM.<\/jats:p>","DOI":"10.3390\/diagnostics15162031","type":"journal-article","created":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T13:30:38Z","timestamp":1755091838000},"page":"2031","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Discovery of ETS1 as a New Gene Predisposing to Dilated Cardiomyopathy"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0274-5543","authenticated-orcid":false,"given":"Zun-Ping","family":"Ke","sequence":"first","affiliation":[{"name":"Department of Geriatrics, Shanghai Fifth People\u2032s Hospital, Fudan University, Shanghai 200240, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia-Ning","family":"Gu","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Fifth People\u2032s Hospital, Fudan University, Shanghai 200240, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen-Xi","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Fifth People\u2032s Hospital, Fudan University, Shanghai 200240, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue-Lin","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Geriatrics, Shanghai Fifth People\u2032s Hospital, Fudan University, Shanghai 200240, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Su","family":"Zou","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Fifth People\u2032s Hospital, Fudan University, Shanghai 200240, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Zhe","family":"Bian","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Fifth People\u2032s Hospital, Fudan University, Shanghai 200240, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying-Jia","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Fifth People\u2032s Hospital, Fudan University, Shanghai 200240, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Qing","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Fifth People\u2032s Hospital, Fudan University, Shanghai 200240, China"},{"name":"Department of Central Laboratory, Shanghai Fifth People\u2032s Hospital, Fudan University, Shanghai 200240, China"},{"name":"Department of Cardiovascular Research Laboratory, Shanghai Fifth People\u2032s Hospital, Fudan University, Shanghai 200240, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,8,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Newman, N.A., and Burke, M.A. (2024). Dilated Cardiomyopathy: A Genetic Journey from Past to Future. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms252111460"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1146\/annurev-med-052422-020535","article-title":"Genetics of Dilated Cardiomyopathy","volume":"75","author":"Eldemire","year":"2024","journal-title":"Annu. Rev. Med."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1016\/j.ajhg.2023.08.003","article-title":"The Penetrance of Rare Variants in Cardiomyopathy-Associated Genes: A Cross-sectional Approach to Estimating Penetrance for Secondary Findings","volume":"110","author":"McGurk","year":"2023","journal-title":"Am. J. Hum. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"H446","DOI":"10.1152\/ajpheart.00245.2024","article-title":"Cardiac stasis imaging, stroke, and silent brain infarcts in patients with nonischemic dilated cardiomyopathy","volume":"327","author":"Espinosa","year":"2024","journal-title":"Am. J. Physiol. Heart Circ. Physiol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.amjcard.2024.09.024","article-title":"Risk of Stroke and Incident Atrial Fibrillation in Patients in Sinus Rhythm with Nonischemic Dilated Cardiomyopathy","volume":"233","year":"2024","journal-title":"Am. J. Cardiol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"215","DOI":"10.31083\/j.rcm2506215","article-title":"Impact of Concurrent Ischaemic Stroke on Unfavourable Outcomes in Men and Women with Dilated Cardiomyopathy","volume":"25","author":"Fan","year":"2024","journal-title":"Rev. Cardiovasc. Med."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1161\/CIRCULATIONAHA.109.892240","article-title":"Dilated cardiomyopathy with conduction disease and arrhythmia","volume":"122","author":"Lakdawala","year":"2010","journal-title":"Circulation"},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Yuan, Y., Yang, K., Liu, Q., Song, W., Jin, D., and Zhao, S. (2023). Nonspecific intraventricular conduction delay predicts the prognosis of dilated cardiomyopathy. BMC Cardiovasc. Disord., 23.","DOI":"10.1186\/s12872-023-03437-y"},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Jim\u00e9nez-Blanco Bravo, M., Alonso Salinas, G.L., Parra Esteban, C., Toquero Ramos, J., Amores Luque, M., Zamorano G\u00f3mez, J.L., Garc\u00eda-Izquierdo, E., \u00c1lvarez-Garc\u00eda, J., Fern\u00e1ndez Lozano, I., and Castro Urda, V. (2024). Right Bundle Branch Block Predicts Appropriate Implantable Cardioverter Defibrillator Therapies in Patients with Non-Ischemic Dilated Cardiomyopathy and a Prophylactic Implantable Cardioverter Defibrillator. Diagnostics, 14.","DOI":"10.3390\/diagnostics14111173"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1016\/j.jcmg.2023.01.008","article-title":"Left Atrial Strain Is an Independent Predictor of New-Onset Atrial Fibrillation in Dilated Cardiomyopathy","volume":"16","author":"Raafs","year":"2023","journal-title":"JACC Cardiovasc. Imaging"},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Iov\u0103nescu, M.L., H\u0103d\u0103reanu, D.R., Toader, D.M., Florescu, C., Istr\u0103toaie, O., Donoiu, I., and Militaru, C. (2023). The Impact of Atrial Fibrillation on All Heart Chambers Remodeling and Function in Patients with Dilated Cardiomyopathy-A Two- and Three-Dimensional Echocardiography Study. Life, 13.","DOI":"10.3390\/life13061421"},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Siow, Y.K., Lin, C.Y., Chung, F.P., Lin, Y.J., Chang, S.L., Lo, L.W., Hu, Y.F., Liao, J.N., Chang, T.Y., and Tuan, T.C. (2024). Catheter ablation in patients with atrial fibrillation and dilated cardiomyopathy. Front. Cardiovasc. Med., 11.","DOI":"10.3389\/fcvm.2024.1305485"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"325","DOI":"10.3892\/etm.2023.12024","article-title":"Exploring novel biomarkers in dilated cardiomyopathy-induced heart failure by integrated analysis and in vitro experiments","volume":"26","author":"Zhou","year":"2023","journal-title":"Exp. Ther. Med."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"131562","DOI":"10.1016\/j.ijcard.2023.131562","article-title":"Applicability and performance of heart failure prognostic scores in dilated cardiomyopathy: The real-world experience of an Italian referral center for cardiomyopathies","volume":"396","author":"Rossi","year":"2024","journal-title":"Int. J. Cardiol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"2553","DOI":"10.1002\/ejhf.3425","article-title":"Precision prediction of heart failure events in patients with dilated cardiomyopathy and mildly reduced ejection fraction using multi-parametric cardiovascular magnetic resonance","volume":"26","author":"Hammersley","year":"2024","journal-title":"Eur. J. Heart Fail."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Tsabedze, N., du Plessis, A., Mpanya, D., Vorster, A., Wells, Q., Scholtz, L., and Manga, P. (2023). Cardiovascular Magnetic Resonance Imaging Findings in Africans with Idiopathic Dilated Cardiomyopathy. Diagnostics, 13.","DOI":"10.3390\/diagnostics13040617"},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Antoniou, N., Kalaitzoglou, M., Tsigkriki, L., Baroutidou, A., Tsaousidis, A., Koulaouzidis, G., Giannakoulas, G., and Charisopoulou, D. (2024). Speckle Tracking Echocardiography in Patients with Non-Ischemic Dilated Cardiomyopathy Who Undergo Cardiac Resynchronization Therapy: A Narrative Review. Diagnostics, 14.","DOI":"10.3390\/diagnostics14111178"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1002\/ehf2.15119","article-title":"Left ventricular diastolic dysfunction worsens prognosis in patients with heart failure due to dilated cardiomyopathy","volume":"12","author":"Winiarczyk","year":"2025","journal-title":"ESC Heart Fail."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1016\/j.jacep.2022.11.015","article-title":"Volume-Weighted Unipolar Voltage Predicts Heart Failure Mortality in Patients with Dilated Cardiomyopathy and Ventricular Arrhythmias","volume":"9","author":"Kimura","year":"2023","journal-title":"JACC Clin. Electrophysiol."},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Ma, H.Y., Xie, G.Y., Tao, J., Li, Z.Z., Liu, P., Zheng, X.J., and Wang, R.P. (2024). Identification of patients with nonischemic dilated cardiomyopathy at risk of malignant ventricular arrhythmias: Insights from cardiac magnetic resonance feature tracking. BMC Cardiovasc. Disord., 24.","DOI":"10.1186\/s12872-023-03655-4"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"101684","DOI":"10.1016\/j.jacadv.2025.101684","article-title":"Radiomic Cardiac MRI Signatures for Predicting Ventricular Arrhythmias in Patients with Nonischemic Dilated Cardiomyopathy","volume":"4","author":"Amyar","year":"2025","journal-title":"JACC Adv."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"e222552","DOI":"10.1148\/radiol.222552","article-title":"Cardiac MRI to Predict Sudden Cardiac Death Risk in Dilated Cardiomyopathy","volume":"307","author":"Li","year":"2023","journal-title":"Radiology"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"e022557","DOI":"10.1161\/JAHA.121.022557","article-title":"Progressive Left Ventricular Remodeling for Predicting Mortality in Children with Dilated Cardiomyopathy: The Pediatric Cardiomyopathy Registry","volume":"13","author":"Kantor","year":"2024","journal-title":"J. Am. Heart Assoc."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Street-de Palma, C., Lim, Z., Field, E., Kaski, J.P., and Norrish, G. (2025). Imaging based risk factors for heart failure death in childhood dilated cardiomyopathy: A systematic review and meta-analysis. Front. Cardiovasc. Med., 12.","DOI":"10.3389\/fcvm.2025.1568494"},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Wang, S., Zhang, Z., He, J., Liu, J., Guo, X., Chu, H., Xu, H., and Wang, Y. (2023). Comprehensive review on gene mutations contributing to dilated cardiomyopathy. Front. Cardiovasc. Med., 10.","DOI":"10.3389\/fcvm.2023.1296389"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1161\/CIRCULATIONAHA.113.002767","article-title":"Long-term outcomes of dilated cardiomyopathy diagnosed during childhood: Results from a national population-based study of childhood cardiomyopathy","volume":"128","author":"Alexander","year":"2013","journal-title":"Circulation"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"2050","DOI":"10.1002\/ejhf.3037","article-title":"Phenotype, Outcomes and Natural History of Early-Stage Non-Ischaemic Cardiomyopathy","volume":"25","author":"Hammersley","year":"2023","journal-title":"Eur. J. Heart Fail."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1002\/ejhf.1914","article-title":"Contemporary Survival Trends and Etiological Characterization in Non-Ischemic Dilated Cardiomyopathy","volume":"22","author":"Merlo","year":"2020","journal-title":"Eur. J. Heart Fail."},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"Kadhi, A., Mohammed, F., and Nemer, G. (2021). The Genetic Pathways Underlying Immunotherapy in Dilated Cardiomyopathy. Front. Cardiovasc. Med., 8.","DOI":"10.3389\/fcvm.2021.613295"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"100984","DOI":"10.1016\/j.xcrm.2023.100984","article-title":"Increased gestational palmitic acid predisposes offspring to congenital heart disease","volume":"4","author":"Lv","year":"2023","journal-title":"Cell Rep. Med."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"e037311","DOI":"10.1161\/JAHA.124.037311","article-title":"Environmental Risk Factors Are Associated with the Natural History of Familial Dilated Cardiomyopathy","volume":"14","author":"Peters","year":"2025","journal-title":"J. Am. Heart Assoc."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1007\/s10741-023-10302-9","article-title":"The genetic basis for adult-onset idiopathic dilated cardiomyopathy in people of African descent","volume":"28","author":"Tsabedze","year":"2023","journal-title":"Heart Fail. Rev."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1161\/CIRCULATIONAHA.122.060985","article-title":"Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated Cardiomyopathy","volume":"147","author":"Chun","year":"2023","journal-title":"Circulation"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1161\/CIRCULATIONAHA.123.064847","article-title":"Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study","volume":"148","author":"Hofmeyer","year":"2023","journal-title":"Circulation"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"e003788","DOI":"10.1161\/CIRCGEN.122.003788","article-title":"Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy","volume":"16","author":"Stroeks","year":"2023","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1161\/CIRCGEN.123.004221","article-title":"DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies","volume":"16","author":"Johnson","year":"2023","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Gu, J.N., Yang, C.X., Ding, Y.Y., Qiao, Q., Di, R.M., Sun, Y.M., Wang, J., Yang, L., Xu, Y.J., and Yang, Y.Q. (2023). Identification of BMP10 as a Novel Gene Contributing to Dilated Cardiomyopathy. Diagnostics, 13.","DOI":"10.3390\/diagnostics13020242"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1002\/ehf2.14395","article-title":"Diagnostic yield and predictive value on left ventricular remodelling of genetic testing in dilated cardiomyopathy","volume":"10","author":"Bertero","year":"2023","journal-title":"ESC Heart Fail."},{"key":"ref_39","doi-asserted-by":"crossref","unstructured":"Sono, R., Larrinaga, T.M., Huang, A., Makhlouf, F., Kang, X., Su, J., Lau, R., Arboleda, V.A., Biniwale, R., and Fishbein, G.A. (2023). Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy. Cells, 12.","DOI":"10.3390\/cells12111455"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1186\/s12967-023-04282-5","article-title":"Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing","volume":"21","author":"Lian","year":"2023","journal-title":"J. Transl. Med."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"147102","DOI":"10.1016\/j.gene.2022.147102","article-title":"Identification of a novel TNNI3 synonymous variant causing intron retention in autosomal recessive dilated cardiomyopathy","volume":"856","author":"Yu","year":"2023","journal-title":"Gene"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"104705","DOI":"10.1016\/j.ejmg.2023.104705","article-title":"VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy","volume":"66","author":"Shi","year":"2023","journal-title":"Eur. J. Med. Genet."},{"key":"ref_43","doi-asserted-by":"crossref","unstructured":"Majdalani, P., Levitas, A., Krymko, H., Slanovic, L., Braiman, A., Hadad, U., Dabsan, S., Horev, A., Zarivach, R., and Parvari, R. (2023). A Missense Variation in PHACTR2 Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24021388"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"2646","DOI":"10.1038\/s41588-024-01952-y","article-title":"Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy","volume":"56","author":"Zheng","year":"2024","journal-title":"Nat. Genet."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"2636","DOI":"10.1038\/s41588-024-01975-5","article-title":"Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience","volume":"56","author":"Jurgens","year":"2024","journal-title":"Nat. Genet."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"e177172","DOI":"10.1172\/JCI177172","article-title":"Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models","volume":"134","author":"Li","year":"2024","journal-title":"J. Clin. Investig."},{"key":"ref_47","first-page":"e004404","article-title":"Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction","volume":"17","author":"Rasoul","year":"2024","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"e2355","DOI":"10.1002\/mgg3.2355","article-title":"Genetic and functional variants of the TBX20 gene promoter in dilated cardiomyopathy","volume":"12","author":"Gao","year":"2024","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_49","first-page":"e036208","article-title":"Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy","volume":"13","author":"Ochoa","year":"2024","journal-title":"J. Am. Heart Assoc."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"e2486","DOI":"10.1002\/mgg3.2486","article-title":"Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy","volume":"12","author":"Kraoua","year":"2024","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"e011226","DOI":"10.1161\/CIRCHEARTFAILURE.123.011226","article-title":"Biallelic Loss of Function Variants in Myocardial Zonula Adherens Protein Gene (MYZAP) Cause a Severe Recessive Form of Dilated Cardiomyopathy","volume":"17","author":"Ochoa","year":"2024","journal-title":"Circ. Heart Fail."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/s10038-023-01218-1","article-title":"CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: Expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy","volume":"69","author":"Ha","year":"2024","journal-title":"J. Hum. Genet."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1111\/cge.14427","article-title":"DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis","volume":"105","author":"Perret","year":"2024","journal-title":"Clin. Genet."},{"key":"ref_54","doi-asserted-by":"crossref","unstructured":"Tran, D.D., Lien, N.T.K., Tung, N.V., Huu, N.C., Nguyen, P.T., Tien, D.A., Thu, D.T.H., Huy, B.Q., Oanh, T.T.K., and Lien, N.T.P. (2024). Three Novel Pathogenic Variants in Unrelated Vietnamese Patients with Cardiomyopathy. Diagnostics, 14.","DOI":"10.3390\/diagnostics14232709"},{"key":"ref_55","doi-asserted-by":"crossref","unstructured":"Voinescu, O.R., Ionescu, B.I., Militaru, S., Afana, A.S., Sascau, R., Vasiliu, L., Onciul, S., Dobrescu, M.A., Cozlac, R.A., and Cozma, D. (2024). Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms25052562"},{"key":"ref_56","doi-asserted-by":"crossref","unstructured":"d\u2019Apolito, M., Ranaldi, A., Santoro, F., Cannito, S., Gravina, M., Santacroce, R., Ragnatela, I., Margaglione, A., D\u2019Andrea, G., and Casavecchia, G. (2024). De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms25052787"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1002\/ehf2.14702","article-title":"A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness","volume":"11","author":"Esmaeili","year":"2024","journal-title":"ESC Heart Fail."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"4127","DOI":"10.1002\/ehf2.15009","article-title":"Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy","volume":"11","author":"Kubanek","year":"2024","journal-title":"ESC Heart Fail."},{"key":"ref_59","doi-asserted-by":"crossref","unstructured":"Le\u00f3n, P., Franco, P., Hinojosa, N., Torres, K., Moreano, A., and Romero, V.I. (2024). TTN novel splice variant in familial dilated cardiomyopathy and splice variants review: A case report. Front. Cardiovasc. Med., 11.","DOI":"10.3389\/fcvm.2024.1387063"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"132999","DOI":"10.1016\/j.ijcard.2025.132999","article-title":"A single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and\/or isolated left ventricular dilatation in the Emilia Romagna region of Italy","volume":"423","author":"Carigi","year":"2025","journal-title":"Int. J. Cardiol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1186\/s40001-025-02692-3","article-title":"Identification of a rare variant in TNNT3 responsible for familial dilated cardiomyopathy through whole-exome sequencing and in silico analysis","volume":"30","author":"Jadidi","year":"2025","journal-title":"Eur. J. Med. Res."},{"key":"ref_62","doi-asserted-by":"crossref","unstructured":"Jiang, W.F., Sun, Y.M., Qiu, X.B., Wu, S.H., Ding, Y.Y., Li, N., Yang, C.X., Xu, Y.J., Jiang, T.B., and Yang, Y.Q. (2024). Identification and Functional Investigation of SOX4 as a Novel Gene Underpinning Familial Atrial Fibrillation. Diagnostics, 14.","DOI":"10.3390\/diagnostics14212376"},{"key":"ref_63","doi-asserted-by":"crossref","unstructured":"Li, Y.J., Wang, J., Ye, W.G., Liu, X.Y., Li, L., Qiu, X.B., Chen, H., Xu, Y.J., Yang, Y.Q., and Bai, D. (2023). Discovery of GJC1 (Cx45) as a New Gene Underlying Congenital Heart Disease and Arrhythmias. Biology, 12.","DOI":"10.3390\/biology12030346"},{"key":"ref_64","doi-asserted-by":"crossref","unstructured":"Li, N., Li, Y.J., Guo, X.J., Wu, S.H., Jiang, W.F., Zhang, D.L., Wang, K.W., Li, L., Sun, Y.M., and Xu, Y.J. (2023). Discovery of TBX20 as a Novel Gene Underlying Atrial Fibrillation. Biology, 12.","DOI":"10.20944\/preprints202307.0482.v1"},{"key":"ref_65","doi-asserted-by":"crossref","unstructured":"Cho, J., Kim, J., Song, J.S., Uh, Y., Lee, J.H., and Lee, H.S. (2024). Whole-Exome Sequencing and Analysis of the T Cell Receptor \u03b2 and \u03b3 Repertoires in Rheumatoid Arthritis. Diagnostics, 14.","DOI":"10.20944\/preprints202401.1646.v1"},{"key":"ref_66","doi-asserted-by":"crossref","unstructured":"Fang, H.H., Lee, C.L., Chen, H.J., Chuang, C.K., Chiu, H.C., Chang, Y.H., Tu, Y.R., Lo, Y.T., Lin, H.Y., and Lin, S.P. (2024). Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series. Diagnostics, 14.","DOI":"10.20944\/preprints202411.0935.v1"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows\u2013Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"ref_69","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_70","doi-asserted-by":"crossref","first-page":"2034","DOI":"10.62347\/DGCD4269","article-title":"Discovery and functional investigation of BMP4 as a new causative gene for human congenital heart disease","volume":"16","author":"Wang","year":"2024","journal-title":"Am. J. Transl. Res."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"91","DOI":"10.3892\/etm.2024.12379","article-title":"Somatic GATA4 mutation contributes to tetralogy of Fallot","volume":"27","author":"Abhinav","year":"2024","journal-title":"Exp. Ther. Med."},{"key":"ref_72","doi-asserted-by":"crossref","unstructured":"Li, Y.J., Zou, S., Bian, Y.Z., Liu, X.Y., Yang, C.X., Li, L., Qiu, X.B., Xu, Y.J., Yang, Y.Q., and Huang, R.T. (2025). Chromosomal Location and Identification of TBX20 as a New Gene Responsible for Familial Bicuspid Aortic Valve. Diagnostics, 15.","DOI":"10.20944\/preprints202502.1131.v1"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"109","DOI":"10.62347\/IVRF4475","article-title":"Discovery of BMP10 as a new gene underpinning congenital heart defects","volume":"16","author":"Dong","year":"2024","journal-title":"Am. J. Transl. Res."},{"key":"ref_74","doi-asserted-by":"crossref","unstructured":"Yan, Z., Dong, B.B., Li, Y.J., Yang, C.X., Xu, Y.J., Huang, R.T., Liu, X.Y., and Yang, Y.Q. (2025). Identification and Functional Characterization of a Novel SOX4 Mutation Predisposing to Coffin-Siris Syndromic Congenital Heart Disease. Children, 12.","DOI":"10.3390\/children12050608"},{"key":"ref_75","doi-asserted-by":"crossref","unstructured":"Jiang, S., Liu, S., Hou, Y., Lu, C., Yang, W., Ji, T., Yang, Y., Yu, Z., and Jin, Z. (2022). Cardiac-specific overexpression of Claudin-5 exerts protection against myocardial ischemia and reperfusion injury. Biochim. Biophys. Acta Mol. Basis Dis., 1868.","DOI":"10.1016\/j.bbadis.2022.166535"},{"key":"ref_76","doi-asserted-by":"crossref","unstructured":"Zhang, Y., Chen, B., Wang, M., Liu, H., Chen, M., Zhu, J., Zhang, Y., Wang, X., Wu, Y., and Liu, D. (2024). A novel function of claudin-5 in maintaining the structural integrity of the heart and its implications in cardiac pathology. Biochim. Biophys. Acta Mol. Basis Dis., 1870.","DOI":"10.1016\/j.bbadis.2024.167274"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1161\/ATVBAHA.109.197582","article-title":"Claudin-5 as a novel estrogen target in vascular endothelium","volume":"30","author":"Burek","year":"2010","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.yjmcc.2004.11.025","article-title":"Claudin-5 localizes to the lateral membranes of cardiomyocytes and is altered in utrophin\/dystrophin-deficient cardiomyopathic mice","volume":"38","author":"Sanford","year":"2005","journal-title":"J. Mol. Cell. Cardiol."},{"key":"ref_79","doi-asserted-by":"crossref","unstructured":"Milani-Nejad, N., Schultz, E.J., Slabaugh, J.L., Janssen, P.M., and Rafael-Fortney, J.A. (2016). Myocardial Contractile Dysfunction Is Present without Histopathology in a Mouse Model of Limb-Girdle Muscular Dystrophy-2F and Is Prevented after Claudin-5 Virotherapy. Front. Physiol., 7.","DOI":"10.3389\/fphys.2016.00539"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"1378","DOI":"10.1038\/mt.2012.81","article-title":"Sustaining cardiac claudin-5 levels prevents functional hallmarks of cardiomyopathy in a muscular dystrophy mouse model","volume":"20","author":"Xu","year":"2012","journal-title":"Mol. Ther."},{"key":"ref_81","first-page":"1593","article-title":"A Novel Role of Claudin-5 in Prevention of Mitochondrial Fission Against Ischemic\/Hypoxic Stress in Cardiomyocytes","volume":"37","author":"Luo","year":"2021","journal-title":"Can. J. Cardiol."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.yjmcc.2008.04.005","article-title":"Claudin-5 levels are reduced in human end-stage cardiomyopathy","volume":"45","author":"Mays","year":"2008","journal-title":"J. Mol. Cell. Cardiol."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.carpath.2014.10.006","article-title":"Claudin-5 levels are reduced from multiple cell types in human failing hearts and are associated with mislocalization of ephrin-B1","volume":"24","author":"Swager","year":"2015","journal-title":"Cardiovasc. Pathol."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1007\/s10456-019-09701-0","article-title":"BMP10-mediated ALK1 signaling is continuously required for vascular development and maintenance","volume":"23","author":"Capasso","year":"2020","journal-title":"Angiogenesis"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1007\/s12265-023-10471-w","article-title":"ALK1 Deficiency Impairs the Wound-Healing Process and Increases Mortality in Murine Model of Myocardial Infarction","volume":"17","author":"Bhave","year":"2024","journal-title":"J. Cardiovasc. Transl. Res."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"3375","DOI":"10.1007\/s00018-012-1243-7","article-title":"Review of Ets1 structure, function, and roles in immunity","volume":"70","year":"2013","journal-title":"Cell. Mol. Life Sci."},{"key":"ref_87","doi-asserted-by":"crossref","unstructured":"Shiu, Y.T., and Jaimes, E.A. (2018). Transcription Factor ETS-1 and Reactive Oxygen Species: Role in Vascular and Renal Injury. Antioxidants, 7.","DOI":"10.3390\/antiox7070084"},{"key":"ref_88","doi-asserted-by":"crossref","unstructured":"Yang, Y., Han, X., Sun, L., Shao, F., Yin, Y., and Zhang, W. (2024). ETS Transcription Factors in Immune Cells and Immune-Related Diseases. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms251810004"},{"key":"ref_89","doi-asserted-by":"crossref","unstructured":"Wang, S., Wan, L., Zhang, X., Fang, H., Zhang, M., Li, F., and Yan, D. (2025). ETS-1 in tumor immunology: Implications for novel anti-cancer strategies. Front. Immunol., 16.","DOI":"10.3389\/fimmu.2025.1526368"},{"key":"ref_90","doi-asserted-by":"crossref","unstructured":"Szabo, L., Morey, R., Palpant, N.J., Wang, P.L., Afari, N., Jiang, C., Parast, M.M., Murry, C.E., Laurent, L.C., and Salzman, J. (2015). Statistically based splicing detection reveals neural enrichment and tissue-specific induction of circular RNA during human fetal development. Genome Biol., 16.","DOI":"10.1186\/s13059-015-0690-5"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/nature14475","article-title":"Genome-wide identification of zero nucleotide recursive splicing in Drosophila","volume":"521","author":"Duff","year":"2015","journal-title":"Nature"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1074\/mcp.M113.035600","article-title":"Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics","volume":"13","author":"Fagerberg","year":"2014","journal-title":"Mol. Cell. Proteom."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"1543","DOI":"10.1242\/dev.047696","article-title":"Ets1 is required for proper migration and differentiation of the cardiac neural crest","volume":"137","author":"Gao","year":"2010","journal-title":"Development"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1093\/hmg\/ddp532","article-title":"Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice","volume":"19","author":"Ye","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"4217","DOI":"10.1093\/hmg\/ddac174","article-title":"ETS1 loss in mice impairs cardiac outflow tract septation via a cell migration defect autonomous to the neural crest","volume":"31","author":"Lin","year":"2022","journal-title":"Hum. Mol. Genet."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1161\/CIRCRESAHA.121.319955","article-title":"Endothelial Loss of ETS1 Impairs Coronary Vascular Development and Leads to Ventricular Non-Compaction","volume":"131","author":"Wang","year":"2022","journal-title":"Circ. Res."},{"key":"ref_97","doi-asserted-by":"crossref","unstructured":"Grossfeld, P. (2022). ETS1 and HLHS: Implications for the Role of the Endocardium. J. Cardiovasc. Dev. Dis., 9.","DOI":"10.3390\/jcdd9070219"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1093\/cvr\/cvv043","article-title":"Dual developmental role of transcriptional regulator Ets1 in Xenopus cardiac neural crest vs. heart mesoderm","volume":"106","author":"Nie","year":"2015","journal-title":"Cardiovasc. Res."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"e152","DOI":"10.1161\/CIRCRESAHA.120.318102","article-title":"GATA4 Regulates Developing Endocardium Through Interaction with ETS1","volume":"131","author":"Zhou","year":"2022","journal-title":"Circ. Res."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"654","DOI":"10.3892\/ijmm.2013.1600","article-title":"A novel GATA4 loss-of-function mutation responsible for familial dilated cardiomyopathy","volume":"33","author":"Zhao","year":"2014","journal-title":"Int. J. Mol. Med."},{"key":"ref_101","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","author":"Li","year":"2014","journal-title":"Gene"},{"key":"ref_102","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","author":"Costa","year":"2013","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_103","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","author":"Yuan","year":"2015","journal-title":"Int. J. Mol. Med."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"e002151","DOI":"10.1161\/CIRCGEN.117.002151","article-title":"Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death","volume":"11","author":"Sveinbjornsson","year":"2018","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"369","DOI":"10.3892\/etm.2022.11296","article-title":"Spironolactone alleviates myocardial fibrosis via inhibition of Ets-1 in mice with experimental autoimmune myocarditis","volume":"23","author":"Wang","year":"2022","journal-title":"Exp. Ther. Med."},{"key":"ref_106","doi-asserted-by":"crossref","unstructured":"Guo, X., Zhang, B.F., Zhang, J., Liu, G., Hu, Q., and Chen, J. (2022). The histone demthylase KDM3A protects the myocardium from ischemia\/reperfusion injury via promotion of ETS1 expression. Commun. Biol., 5.","DOI":"10.1038\/s42003-022-03225-y"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/S1567-133X(03)00065-6","article-title":"Ets-1 expression is associated with cranial neural crest migration and vasculogenesis in the chick embryo","volume":"3","author":"Tahtakran","year":"2003","journal-title":"Gene Expr. Patterns"},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1161\/01.RES.0000066662.70010.DB","article-title":"Ets-1 and Ets-2 transcription factors are essential for normal coronary and myocardial development in chicken embryos","volume":"92","author":"Boot","year":"2003","journal-title":"Circ. Res."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1023\/A:1012781618109","article-title":"Ets-1 is involved in transcriptional regulation of the chick inducible nitric oxide synthase gene in embryonic ventricular myocytes","volume":"226","author":"Takahashi","year":"2001","journal-title":"Mol. Cell. Biochem."},{"key":"ref_110","doi-asserted-by":"crossref","unstructured":"Ruan, H., Liao, Y., Ren, Z., Mao, L., Yao, F., Yu, P., Ye, Y., Zhang, Z., Li, S., and Xu, H. (2019). Single-cell reconstruction of differentiation trajectory reveals a critical role of ETS1 in human cardiac lineage commitment. BMC Biol., 17.","DOI":"10.1186\/s12915-019-0709-6"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1002\/ajmg.a.61113","article-title":"11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA","volume":"179","author":"Conrad","year":"2019","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/ajmg.a.30090","article-title":"The 11q terminal deletion disorder: A prospective study of 110 cases","volume":"129A","author":"Grossfeld","year":"2004","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1161\/CIRCRESAHA.115.304458","article-title":"Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data","volume":"115","author":"Glessner","year":"2014","journal-title":"Circ. Res."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"7227","DOI":"10.1093\/hmg\/ddv423","article-title":"PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction","volume":"24","author":"Muhammad","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_115","doi-asserted-by":"crossref","unstructured":"Korover, N., Etzion, S., Cherniak, A., Rabinski, T., Levitas, A., Etzion, Y., Ofir, R., Parvari, R., and Cohen, S. (2023). Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction. Biol. Res., 56.","DOI":"10.1186\/s40659-023-00442-5"},{"key":"ref_116","doi-asserted-by":"crossref","unstructured":"Levitas, A., Muhammad, E., Zhang, Y., Perea Gil, I., Serrano, R., Diaz, N., Arafat, M., Gavidia, A.A., Kapiloff, M.S., and Mercola, M. (2020). A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy. PLoS Genet., 16.","DOI":"10.1371\/journal.pgen.1009000"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1136\/jmedgenet-2018-105498","article-title":"CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy","volume":"56","author":"Aspit","year":"2019","journal-title":"J. Med. Genet."},{"key":"ref_118","doi-asserted-by":"crossref","unstructured":"Parvari, R., and Levitas, A. (2012). The mutations associated with dilated cardiomyopathy. Biochem. Res. Int., 2012.","DOI":"10.1155\/2012\/639250"}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/15\/16\/2031\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:26:45Z","timestamp":1760034405000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/15\/16\/2031"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,13]]},"references-count":118,"journal-issue":{"issue":"16","published-online":{"date-parts":[[2025,8]]}},"alternative-id":["diagnostics15162031"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics15162031","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,13]]}}}