{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T02:38:45Z","timestamp":1790131125821,"version":"4.0.1"},"reference-count":36,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2024,3,6]],"date-time":"2024-03-06T00:00:00Z","timestamp":1709683200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003407","name":"Italian Ministry of University and Research (MIUR) (Claudio Napoli)","doi-asserted-by":"publisher","award":["PRIN2020XMLP45"],"award-info":[{"award-number":["PRIN2020XMLP45"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Italian Ministry of University and Research (MIUR) (Claudio Napoli)","doi-asserted-by":"publisher","award":["VALERE: Vanvitelli Project 2020"],"award-info":[{"award-number":["VALERE: Vanvitelli Project 2020"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Italian Ministry of University and Research (MUR)","doi-asserted-by":"publisher","award":["PRIN2020XMLP45"],"award-info":[{"award-number":["PRIN2020XMLP45"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Italian Ministry of University and Research (MUR)","doi-asserted-by":"publisher","award":["VALERE: Vanvitelli Project 2020"],"award-info":[{"award-number":["VALERE: Vanvitelli Project 2020"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Familial dilated cardiomyopathy (DCM) is among the leading indications for heart transplantation. DCM alters the transcriptomic profile. The alteration or activation\/silencing of physiologically operating transcripts may explain the onset and progression of this pathological state. The mediator complex (MED) plays a fundamental role in the transcription process. The aim of this study is to investigate the MED subunits, which are altered in DCM, to identify target crossroads genes. RNA sequencing allowed us to identify specific MED subunits that are altered during familial DCM, transforming into human myocardial samples. N = 13 MED subunits were upregulated and n = 7 downregulated. MED9 alone was significantly reduced in patients compared to healthy subjects (HS) (FC = \u22121.257; p &lt; 0.05). Interestingly, we found a short MED9 isoform (MED9s) (ENSG00000141026.6), which was upregulated when compared to the full-transcript isoform (MED9f). Motif identification analysis yielded several significant matches (p &lt; 0.05), such as GATA4, which is downregulated in CHD. Moreover, although the protein\u2013protein interaction network showed FOG2\/ZFPM2, FOS and ID2 proteins to be the key interacting partners of GATA4, only FOG2\/ZFPM2 overexpression showed an interaction score of \u201chigh confidence\u201d \u2265 0.84. A significant change in the MED was observed during HF. For the first time, the MED9 subunit was significantly reduced between familial DCM and HS (p &lt; 0.05), showing an increased MED9s isoform in DCM patients with respect to its full-length transcript. MED9 and GATA4 shared the same sequence motif and were involved in a network with FOG2\/ZFPM2, FOS, and ID2, proteins already implicated in cardiac development.<\/jats:p>","DOI":"10.3390\/ijms25053057","type":"journal-article","created":{"date-parts":[[2024,3,6]],"date-time":"2024-03-06T05:48:01Z","timestamp":1709704081000},"page":"3057","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Familial Dilated Cardiomyopathy: A Novel MED9 Short Isoform Identification"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6490-7694","authenticated-orcid":false,"given":"Monica","family":"Franzese","sequence":"first","affiliation":[{"name":"IRCCS SYNLAB SDN, 80143 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3733-2095","authenticated-orcid":false,"given":"Mario","family":"Zanfardino","sequence":"additional","affiliation":[{"name":"IRCCS SYNLAB SDN, 80143 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Soricelli","sequence":"additional","affiliation":[{"name":"IRCCS SYNLAB SDN, 80143 Naples, Italy"},{"name":"Department of Exercise and Wellness Sciences, University of Naples Parthenope, 80133 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annapaola","family":"Coppola","sequence":"additional","affiliation":[{"name":"Department of Advanced Medical and Surgical Sciences (DAMSS), University of Campania Luigi Vanvitelli, 81100 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1604-4756","authenticated-orcid":false,"given":"Ciro","family":"Maiello","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic Science, U.O.S.D. of Heart Transplantation, Monaldi Hospital, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9734-7702","authenticated-orcid":false,"given":"Marco","family":"Salvatore","sequence":"additional","affiliation":[{"name":"IRCCS SYNLAB SDN, 80143 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Concetta","family":"Schiano","sequence":"additional","affiliation":[{"name":"Department of Advanced Medical and Surgical Sciences (DAMSS), University of Campania Luigi Vanvitelli, 81100 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Napoli","sequence":"additional","affiliation":[{"name":"IRCCS SYNLAB SDN, 80143 Naples, Italy"},{"name":"Department of Advanced Medical and Surgical Sciences (DAMSS), University of Campania Luigi Vanvitelli, 81100 Naples, Italy"},{"name":"Clinical Department of Internal Medicine and Specialistic Units, Division of Clinical Immunology, Immunohematology, Transfusion Medicine and Transplant Immunology (SIMT), Azienda Universitaria Policlinico (AOU), 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,3,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Fauchier, L., Bisson, A., and Bodin, A. 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