https://m2.mtmt.hu/ hun 2026-09-22 15:47 JournalArticle 33063952 VALIDATED true 0 false 2026-09-04T11:45:49.546+0000 2026-08-18T10:59:05.340+0000 2022-08-24T11:57:49.184+0000 true 10071503 Szabó Regina /api/admin/10071503 Admin true 2026-08-26T08:41:21.366+0000 2022-09-01T13:10:09.681+0000 true 10071503 Szabó Regina /api/admin/10071503 Admin true 2022-10-21T09:15:15.501+0000 true 10067876 Ladányi Gusztáv /api/admin/10067876 Admin true Admin 10003134 /api/admin/10003134 Wolf György true 10003134 true 2024-01-08T08:54:03.688+0000 true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType 101 true 10000059 true 1 /api/category/1 Category true 1 László, Loretta A Novel Cell-Based Model for a Rare Disease: The Tks4-KO Human Embryonic Stem Cell Line as a Frank-Ter Haar Syndrome Model System true true /api/journal/10003252 REVIEWED true false 10003252 false 10003252 true 1661-6596 1422-0067 Journal FOREIGN 23 15 8803 8803 15 2022 Tyrosine kinase substrate with four SH3 domains (Tks4) scaffold protein plays roles in cell migration and podosome formation and regulates systemic mechanisms such as adult bone homeostasis and adipogenesis. Mutations in the Tks4 gene (SH3PXD2b) cause a rare developmental disorder called Frank-Ter Haar syndrome (FTHS), which leads to heart abnormalities, bone tissue defects, and reduced adiposity. We aimed to produce a human stem cell-based in vitro FTHS model system to study the effects of the loss of the Tks4 protein in different cell lineages and the accompanying effects on the cell signalome. To this end, we used CRISPR/Cas9 (clustered, regularly interspaced, short palindromic repeats (CRISPR)/CRISPR associated (Cas9)) to knock out the SH3PXD2b gene in the HUES9 human embryonic stem cell line (hESC), and we obtained stable homo- and heterozygous knock out clones for use in studying the potential regulatory roles of Tks4 protein in embryonic stem cell biology. Based on pluripotency marker measurements and spontaneous differentiation capacity assays, we concluded that the newly generated Tks4-KO HUES9 cells retained their embryonic stem cell characteristics. We propose that the Tks4-KO HUES9 cells could serve as a tool for further cell differentiation studies to investigate the involvement of Tks4 in the complex disorder FTHS. Moreover, we successfully differentiated all of the clones into mesenchymal stem cells (MSCs). The derived MSC cultures showed mesenchymal morphology and expressed MSC markers, although the expression levels of mesodermal and osteogenic marker genes were reduced, and several EMT (epithelial mesenchymal transition)-related features were altered in the Tks4-KO MSCs. Our results suggest that the loss of Tks4 leads to FTHS by altering cell lineage differentiation and cell maturation processes, rather than by regulating embryonic stem cell potential. 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false Author 10076635 /api/author/10076635 Takács Tamás true true Takács Tamás true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 103223011 /api/authorship/103223011 4 0.125 false false false Author 10073233 /api/author/10073233 Kurilla Anita true true Kurilla Anita true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 103223012 /api/authorship/103223012 5 0.125 false false false Author 10082437 /api/author/10082437 Tilajka Álmos true true Tilajka Álmos true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 103223013 /api/authorship/103223013 6 0.125 false false false Author 10000649 /api/author/10000649 Buday László true 10000649 true Buday László true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 103223014 /api/authorship/103223014 7 0.125 false true true Author 10000695 /api/author/10000695 Vas Virág true 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10.1016/j.scr.2020.102134 false true Reference 33136403 /api/reference/33136403 32 10.1002/cytob.21168 false true Reference 33136404 /api/reference/33136404 33 10.1371/journal.pone.0023653 false true Reference 33136405 /api/reference/33136405 34 10.1038/s41598-019-44593-6 false true Reference 33136406 /api/reference/33136406 35 10.1002/stem.2078 false true /api/publication/33063952 <div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10076637"><a href="/gui2/?type=authors&mode=browse&sel=10076637" target="_blank">László Loretta (<span class="authorship-author-name">László Loretta</span> <span class="authorAux-mtmt"> természettudomány</span>) </a> </span> <span class="author-affil"><span title="Eötvös Loránd Tudományegyetem">ELTE</span>/<span title="Természettudományi Kar">TTK</span>/Biológia Doktori Iskola</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10080380"><a href="/gui2/?type=authors&mode=browse&sel=10080380" target="_blank">Maczelka Hédi (<span class="authorship-author-name">Maczelka Hédi</span> <span class="authorAux-mtmt"> Biotechnológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/Doktori Iskola</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10076635"><a href="/gui2/?type=authors&mode=browse&sel=10076635" target="_blank">Takács Tamás (<span class="authorship-author-name">Takács Tamás</span> <span class="authorAux-mtmt"> Természettudomány</span>) </a> </span> <span class="author-affil"><span title="Eötvös Loránd Tudományegyetem">ELTE</span>/<span title="Természettudományi Kar">TTK</span>/Biológia Doktori Iskola</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10073233"><a href="/gui2/?type=authors&mode=browse&sel=10073233" target="_blank">Kurilla Anita (<span class="authorship-author-name">Kurilla Anita</span> <span class="authorAux-mtmt"> Biológiai tudományok</span>) </a> </span> <span class="author-affil"><span title="Eötvös Loránd Tudományegyetem">ELTE</span>/<span title="Természettudományi Kar">TTK</span>/Biológia Doktori Iskola</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10082437"><a href="/gui2/?type=authors&mode=browse&sel=10082437" target="_blank">Tilajka Álmos (<span class="authorship-author-name">Tilajka Álmos</span> <span class="authorAux-mtmt"> Orvostudomány</span>) </a> </span> <span class="author-affil"><span title="Természettudományi Kutatóközpont">TTK</span>/Enzimológiai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10000649"><a href="/gui2/?type=authors&mode=browse&sel=10000649" target="_blank">Buday László (<span class="authorship-author-name">Buday László</span> <span class="authorAux-mtmt"> Biokémia</span>) </a> </span> <span class="author-affil"><span title="Természettudományi Kutatóközpont">TTK</span>/Enzimológiai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10000695"><a href="/gui2/?type=authors&mode=browse&sel=10000695" target="_blank">Vas Virag<sup>**</sup> ✉ (<span class="authorship-author-name">Vas Virág</span> <span class="authorAux-mtmt"> Őssejt biológia</span>) </a> </span> <span class="author-affil"><span title="Természettudományi Kutatóközpont">TTK</span>/Enzimológiai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10027529"><a href="/gui2/?type=authors&mode=browse&sel=10027529" target="_blank">Apáti Ágota ✉ (<span class="authorship-author-name">Apáti Ágota</span> <span class="authorAux-mtmt"> Őssejt kutatás</span>) </a> </span> <span class="author-affil"><span title="Természettudományi Kutatóközpont">TTK</span>/Enzimológiai Intézet</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;33063952" target="_blank">A Novel Cell-Based Model for a Rare Disease: The Tks4-KO Human Embryonic Stem Cell Line as a Frank-Ter Haar Syndrome Model System</a></div> <div> <span class="journal-title">INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1661-6596">1661-6596</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1422-0067">1422-0067</a>)</span>: <span class="journal-volume">23</span> <span class="journal-issue">15</span> <span class="page"> Paper 8803. 15 p. </span> <span class="year">(2022)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.3390/ijms23158803" target="_blank" href="https://doi.org/10.3390/ijms23158803"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000840191800001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000840191800001"> WoS </a> </span> <span class="id identifier oa_GREEN" title=" Green "> <a style="color:black" title="113713" target="_blank" href="https://edit.elte.hu/xmlui/handle/10831/113713"> EDIT </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85136340709" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85136340709"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="35955935" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=35955935&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Inorganic Chemistry&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Spectroscopy&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Computer Science Applications&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Medicine (miscellaneous)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Organic Chemistry&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Physical and Theoretical Chemistry&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Catalysis&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Molecular Biology&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 3</span> | Független: 2 | Függő: 1 | Nem jelölt: 0 | WoS jelölt: 3 | Scopus jelölt:&nbsp;3 | WoS/Scopus jelölt:&nbsp;3 | DOI jelölt:&nbsp;3 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;33063952&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 12 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 33063952</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="funder"> (K124045) Támogató: NKFIH, (K128369), (FIEK-16-1-2016-0005), (HunProtEx 2018-1.2.1-NKP-2018–00005) Támogató: NKFIH, (KÖ-39/2021), National Laboratory of Translational Neuroscience (TINL)(RRF-2.3.1-21-2022-00011), Nemzeti Gyógyszerkutatási és Fejlesztési Laboratórium (PharmaLab)(RRF-2.3.1-21-2022-00015) Támogató: NKFIH </div> <div class="lastModified">Utolsó módosítás: 2026.08.18. 12:59 Balázs András (MTMT Központ, admin) </div> <div class="lockedBy">Központi kezelésű 2024.01.08. 09:54 Wolf György (MTMT Központi admin) </div> </div></div>