{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T17:34:01Z","timestamp":1786988041389,"version":"build-2736575974"},"reference-count":37,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,6,28]],"date-time":"2025-06-28T00:00:00Z","timestamp":1751068800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004923","name":"AFM-T\u00e9l\u00e9thon","doi-asserted-by":"publisher","award":["28597"],"award-info":[{"award-number":["28597"]}],"id":[{"id":"10.13039\/501100004923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004923","name":"AFM-T\u00e9l\u00e9thon","doi-asserted-by":"publisher","award":["22142"],"award-info":[{"award-number":["22142"]}],"id":[{"id":"10.13039\/501100004923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003032","name":"National Association of Technical Research","doi-asserted-by":"publisher","award":["2020\/0074"],"award-info":[{"award-number":["2020\/0074"]}],"id":[{"id":"10.13039\/501100003032","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"French National Research Agency","doi-asserted-by":"publisher","award":["ANR-21-CE19\\u20130027-MoHeDis"],"award-info":[{"award-number":["ANR-21-CE19\\u20130027-MoHeDis"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020631","name":"European Innovation Council and Small and Medium-sized Enterprises Executive Agency","doi-asserted-by":"publisher","award":["101115536 - IMPACT - HORIZON-EIC-2022-PATHFINDERCHALLENGES-01"],"award-info":[{"award-number":["101115536 - IMPACT - HORIZON-EIC-2022-PATHFINDERCHALLENGES-01"]}],"id":[{"id":"10.13039\/100020631","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100019125","name":"Sorbonne University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100019125","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007175","name":"Conseil National de la Recherche Scientifique","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007175","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013284","name":"Executive Agency for Small and Medium-sized Enterprises","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013284","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001677","name":"INSERM","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018703","name":"HORIZON EUROPE European Innovation Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018703","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Cell Biology"],"published-print":{"date-parts":[[2025,9]]},"DOI":"10.1016\/j.ejcb.2025.151502","type":"journal-article","created":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T02:27:39Z","timestamp":1751423259000},"page":"151502","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Integrated phenotypic and transcriptomic characterization of desmin-related cardiomyopathy in hiPSC-derived cardiomyocytes and machine learning-based classification of disease features"],"prefix":"10.1016","volume":"104","author":[{"given":"Vivien","family":"Batoumeni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yeranuhi","family":"Hovhannisyan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"Gobert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keyhan","family":"Alvandipour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer Arthur","family":"Ataam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ombline","family":"Conrad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Wiest-Daessl\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jochen","family":"Dobner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Am\u00e9rico Nabuco Leva","family":"Ferreira Freitas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hakim","family":"Hocini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenlin","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Brino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1923-8871","authenticated-orcid":false,"given":"Onnik","family":"Agbulut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Sommer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Joanne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantinos","family":"Gkatzis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejcb.2025.151502_bib1","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.toxrep.2019.02.004","article-title":"Cell culture conditions affect the ability of high content imaging assay to detect drug-induced changes in cellular parameters in human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs)","volume":"6","author":"Balasubramanian","year":"2019","journal-title":"Toxicol. Rep."},{"key":"10.1016\/j.ejcb.2025.151502_bib2","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1038\/nprot.2016.105","article-title":"Cell Painting, a high-content image-based assay for morphological profiling using multiplexed fluorescent dyes","volume":"11","author":"Bray","year":"2016","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ejcb.2025.151502_bib3","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1007\/s12551-018-0429-0","article-title":"Molecular insights into cardiomyopathies associated with desmin (DES) mutations","volume":"10","author":"Brodehl","year":"2018","journal-title":"Biophys. Rev."},{"key":"10.1016\/j.ejcb.2025.151502_bib4","doi-asserted-by":"crossref","first-page":"918","DOI":"10.3390\/genes10110918","article-title":"Restrictive cardiomyopathy is caused by a novel homozygous desmin (DES) mutation p.Y122H leading to a severe filament assembly defect","volume":"10","author":"Brodehl","year":"2019","journal-title":"Genes"},{"key":"10.1016\/j.ejcb.2025.151502_bib5","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.3390\/biomedicines9101400","article-title":"The desmin mutation DES-c.735G>C causes severe restrictive cardiomyopathy by inducing in-frame skipping of Exon-3","volume":"9","author":"Brodehl","year":"2021","journal-title":"Biomedicines"},{"key":"10.1016\/j.ejcb.2025.151502_bib6","first-page":"275","article-title":"3D models of dilated cardiomyopathy: shaping the chemical, physical and topographical properties of biomaterials to mimic the cardiac extracellular matrix","volume":"7","author":"Camman","year":"2022","journal-title":"Bioact. Mater."},{"key":"10.1016\/j.ejcb.2025.151502_bib7","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.ceb.2015.01.004","article-title":"Desmin related disease: a matter of cell survival failure","volume":"32","author":"Capetanaki","year":"2015","journal-title":"Curr. Opin. Cell Biol."},{"key":"10.1016\/j.ejcb.2025.151502_bib8","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1007\/s00401-002-0583-z","article-title":"Cytoskeletal derangements in hereditary myopathy with a desmin L345P mutation","volume":"104","author":"Carlsson","year":"2002","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ejcb.2025.151502_bib9","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1016\/j.yexcr.2011.01.013","article-title":"Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly","volume":"317","author":"Chourbagi","year":"2011","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.ejcb.2025.151502_bib10","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1038\/s41598-017-01485-x","article-title":"Early signs of architectural and biomechanical failure in isolated myofibers and immortalized myoblasts from desmin-mutant knock-in mice","volume":"7","author":"Diermeier","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ejcb.2025.151502_bib11","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.124.004896","article-title":"Phenotypic diversity caused by the DES missense mutation p.R127P (c.380G>C) contributing to significant cardiac mortality and morbidity associated with a desmin filament assembly defect","author":"Ebrahim","year":"2025","journal-title":"Circ. Genom. Precis Med"},{"key":"10.1016\/j.ejcb.2025.151502_bib12","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1007\/s00424-018-2214-0","article-title":"Cardiomyopathy phenotypes in human-induced pluripotent stem cell-derived cardiomyocytes-a systematic review","volume":"471","author":"Eschenhagen","year":"2019","journal-title":"Pflug. Arch."},{"key":"10.1016\/j.ejcb.2025.151502_bib13","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2020.107925","article-title":"Metabolic maturation media improve physiological function of human ipsc-derived cardiomyocytes","volume":"32","author":"Feyen","year":"2020","journal-title":"Cell Rep."},{"key":"10.1016\/j.ejcb.2025.151502_bib14","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1016\/j.cels.2021.05.001","article-title":"Cell states beyond transcriptomics: Integrating structural organization and gene expression in hiPSC-derived cardiomyocytes","volume":"12","author":"Gerbin","year":"2021","journal-title":"Cell Syst."},{"key":"10.1016\/j.ejcb.2025.151502_bib15","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/1300","article-title":"Missense mutations in desmin associated with familial cardiac and skeletal myopathy","volume":"19","author":"Goldfarb","year":"1998","journal-title":"Nat. Genet"},{"key":"10.1016\/j.ejcb.2025.151502_bib16","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.68714","article-title":"Deep learning detects cardiotoxicity in a high-content screen with induced pluripotent stem cell-derived cardiomyocytes","volume":"10","author":"Grafton","year":"2021","journal-title":"eLife"},{"key":"10.1016\/j.ejcb.2025.151502_bib17","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1007\/s00441-014-2016-4","article-title":"Desmin in muscle and associated diseases: beyond the structural function","volume":"360","author":"Hnia","year":"2015","journal-title":"Cell Tissue Res"},{"key":"10.1016\/j.ejcb.2025.151502_bib18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13287-023-03619-7","article-title":"Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation","volume":"15","author":"Hovhannisyan","year":"2024","journal-title":"Stem Cell Res Ther."},{"key":"10.1016\/j.ejcb.2025.151502_bib19","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/j.chembiol.2021.02.015","article-title":"High-content phenotypic and pathway profiling to advance drug discovery in diseases of unmet need","volume":"28","author":"Hughes","year":"2021","journal-title":"Cell Chem. Biol."},{"key":"10.1016\/j.ejcb.2025.151502_bib20","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/2044-5040-3-4","article-title":"Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy","volume":"3","author":"Joanne","year":"2013","journal-title":"Skelet. Muscle"},{"key":"10.1016\/j.ejcb.2025.151502_bib21","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.bbrc.2022.09.108","article-title":"Development of non-bias phenotypic drug screening for cardiomyocyte hypertrophy by image segmentation using deep learning","volume":"632","author":"Komuro","year":"2022","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ejcb.2025.151502_bib22","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1186\/s13287-020-01618-6","article-title":"Selection of human induced pluripotent stem cells lines optimization of cardiomyocytes differentiation in an integrated suspension microcarrier bioreactor","volume":"11","author":"Laco","year":"2020","journal-title":"Stem Cell Res Ther."},{"key":"10.1016\/j.ejcb.2025.151502_bib23","doi-asserted-by":"crossref","first-page":"E1848","DOI":"10.1073\/pnas.1200250109","article-title":"Robust cardiomyocyte differentiation from human pluripotent stem cells via temporal modulation of canonical Wnt signaling","volume":"109","author":"Lian","year":"2012","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ejcb.2025.151502_bib24","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1111\/joa.13108","article-title":"Expression patterns of intermediate filament proteins desmin and lamin A in the developing conduction system of early human embryonic hearts","volume":"236","author":"Liu","year":"2020","journal-title":"J. Anat."},{"key":"10.1016\/j.ejcb.2025.151502_bib25","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1016\/j.tig.2017.06.005","article-title":"High-throughput imaging for the discovery of cellular mechanisms of disease","volume":"33","author":"Pegoraro","year":"2017","journal-title":"Trends Genet."},{"key":"10.1016\/j.ejcb.2025.151502_bib26","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/s00418-014-1239-5","article-title":"Deep imaging: the next frontier in microscopy","volume":"142","author":"Roukos","year":"2014","journal-title":"Histochem Cell Biol."},{"key":"10.1016\/j.ejcb.2025.151502_bib27","first-page":"43","article-title":"Machine learning and image-based profiling in drug discovery. current opinion in systems biology","volume":"10","author":"Scheeder","year":"2018","journal-title":"Pharmacol. Drug Discov."},{"key":"10.1016\/j.ejcb.2025.151502_bib28","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. Prim."},{"key":"10.1016\/j.ejcb.2025.151502_bib29","doi-asserted-by":"crossref","first-page":"7874","DOI":"10.3390\/ijms22157874","article-title":"Investigating LMNA-related dilated cardiomyopathy using human induced pluripotent stem cell-derived cardiomyocytes","volume":"22","author":"Shemer","year":"2021","journal-title":"Int J. Mol. Sci."},{"key":"10.1016\/j.ejcb.2025.151502_bib30","doi-asserted-by":"crossref","DOI":"10.1016\/j.bbadis.2020.165745","article-title":"Desmin mutations result in mitochondrial dysfunction regardless of their aggregation properties","volume":"1866","author":"Smolina","year":"2020","journal-title":"Biochim Biophys. Acta Mol. Basis Dis."},{"key":"10.1016\/j.ejcb.2025.151502_bib31","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1038\/s41598-018-19539-z","article-title":"High content analysis identifies unique morphological features of reprogrammed cardiomyocytes","volume":"8","author":"Sutcliffe","year":"2018","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ejcb.2025.151502_bib32","doi-asserted-by":"crossref","first-page":"1832","DOI":"10.1161\/CIRCULATIONAHA.116.024145","article-title":"Defined engineered human myocardium with advanced maturation for applications in heart failure modeling and repair","volume":"135","author":"Tiburcy","year":"2017","journal-title":"Circulation"},{"key":"10.1016\/j.ejcb.2025.151502_bib33","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1007\/s12551-018-0443-2","article-title":"Intermediate filaments in cardiomyopathy","volume":"10","author":"Tsikitis","year":"2018","journal-title":"Biophys. Rev."},{"key":"10.1016\/j.ejcb.2025.151502_bib34","doi-asserted-by":"crossref","first-page":"2349","DOI":"10.1016\/j.stemcr.2022.09.001","article-title":"High-content phenotyping of Parkinson\u2019s disease patient stem cell-derived midbrain dopaminergic neurons using machine learning classification","volume":"17","author":"Vuidel","year":"2022","journal-title":"Stem Cell Rep."},{"key":"10.1016\/j.ejcb.2025.151502_bib35","doi-asserted-by":"crossref","first-page":"2402","DOI":"10.1161\/01.CIR.103.19.2402","article-title":"Mouse model of desmin-related cardiomyopathy","volume":"103","author":"Wang","year":"2001","journal-title":"Circulation"},{"key":"10.1016\/j.ejcb.2025.151502_bib36","doi-asserted-by":"crossref","unstructured":"Witten, I.H., Frank, E., Hall, M.A., Pal, C.J., 2017. Chapter 8 - Data transformations, in: Witten, I.H., Frank, E., Hall, M.A., Pal, C.J. (Eds.), Data Mining (Fourth Edition). Morgan Kaufmann, pp. 285\u2013334. https:\/\/doi.org\/10.1016\/B978-0-12-804291-5.00008-8.","DOI":"10.1016\/B978-0-12-804291-5.00008-8"},{"key":"10.1016\/j.ejcb.2025.151502_bib37","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.abl5654","article-title":"Phenotypic screening with deep learning identifies HDAC6 inhibitors as cardioprotective in a BAG3 mouse model of dilated cardiomyopathy","volume":"14","author":"Yang","year":"2022","journal-title":"Sci. Transl. Med"}],"container-title":["European Journal of Cell Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0171933525000275?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0171933525000275?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T01:20:51Z","timestamp":1779672051000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0171933525000275"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":37,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["S0171933525000275"],"URL":"https:\/\/doi.org\/10.1016\/j.ejcb.2025.151502","relation":{},"ISSN":["0171-9335"],"issn-type":[{"value":"0171-9335","type":"print"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Integrated phenotypic and transcriptomic characterization of desmin-related cardiomyopathy in hiPSC-derived cardiomyocytes and machine learning-based classification of disease features","name":"articletitle","label":"Article Title"},{"value":"European Journal of Cell Biology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejcb.2025.151502","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier GmbH.","name":"copyright","label":"Copyright"}],"article-number":"151502"}}