{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T12:31:53Z","timestamp":1789129913445,"version":"build-2803163510"},"reference-count":41,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T00:00:00Z","timestamp":1788825600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","award":["2020"],"award-info":[{"award-number":["2020"]}],"id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001675","name":"International Brain Research Organization","doi-asserted-by":"publisher","award":["2023"],"award-info":[{"award-number":["2023"]}],"id":[{"id":"10.13039\/501100001675","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001675","name":"International Brain Research Organization","doi-asserted-by":"publisher","award":["2025"],"award-info":[{"award-number":["2025"]}],"id":[{"id":"10.13039\/501100001675","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["2024"],"award-info":[{"award-number":["2024"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JPJSBP120239930"],"award-info":[{"award-number":["JPJSBP120239930"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"abstract":"<jats:p>\n                    Treacher Collins syndrome and Nager syndrome are craniofacial developmental disorders caused by defects in ribosome biogenesis and RNA splicing, respectively, yet they exhibit overlapping abnormalities affecting neural crest cell-derived craniofacial structures. To investigate shared downstream pathogenic mechanisms, we performed a comparative transcriptomic analysis of zebrafish\n                    <jats:italic toggle=\"yes\">polr1c<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">sf3b4<\/jats:italic>\n                    mutant models from our previous studies. Comparative analysis identified 17 shared differentially expressed genes (DEGs) between\n                    <jats:italic toggle=\"yes\">polr1c<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">sf3b4<\/jats:italic>\n                    mutants, with the majority of shared genes dysregulated in the same direction, indicating a coordinated rather than random transcriptional response. Gene ontology analysis identified ATP-dependent protein folding chaperone activity as the only shared molecular function, driven in part by upregulation of\n                    <jats:italic toggle=\"yes\">hsp90aa1.2<\/jats:italic>\n                    , indicating a common proteostasis response. Because chaperone activity is linked to extracellular matrix (ECM) protein processing, we cross-referenced DEGs from both mutants against the curated zebrafish matrisome. Three of the 17 shared DEGs (\n                    <jats:italic toggle=\"yes\">serpinh1b<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">il11a<\/jats:italic>\n                    , and\n                    <jats:italic toggle=\"yes\">lepa<\/jats:italic>\n                    ) were matrisome-associated and upregulated in both mutants.\n                    <jats:italic toggle=\"yes\">Serpinh1b<\/jats:italic>\n                    , a collagen-specific chaperone, was strongly expressed in craniofacial cartilage and mesenchymal populations during pharyngeal arch development and exhibited nearly identical fold changes in both mutants.\n                    <jats:italic toggle=\"yes\">Il11a<\/jats:italic>\n                    is of particular interest because its receptor, IL11RA, is known to be associated with human craniosynostosis, suggesting potential relevance to craniofacial development. Together, it is possible to hypothesize that shared chaperone-associated transcriptional changes, together with altered ECM-related gene expression, may contribute to\n                    <jats:italic toggle=\"yes\">polr1c<\/jats:italic>\n                    - and\n                    <jats:italic toggle=\"yes\">sf3b4<\/jats:italic>\n                    -associated craniofacial disorders, warranting further functional validation.\n                  <\/jats:p>","DOI":"10.1177\/10556656261485119","type":"journal-article","created":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T16:03:33Z","timestamp":1788883413000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Comparative Transcriptomics Reveals Shared Downstream Pathways in Craniofacial Pathology"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2659-1940","authenticated-orcid":false,"given":"Zulvikar Syambani","family":"Ulhaq","sequence":"first","affiliation":[{"name":"National Research and Innovation Agency Republic of Indonesia"},{"name":"Laboratory of Clinical Genomics and Animal Models, Malang, Indonesia"},{"name":"Kyushu University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William Ka Fai","family":"Tse","sequence":"additional","affiliation":[{"name":"Kyushu University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,9,8]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14243"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0296-130"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2018.03.136"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.724"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.29"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.004"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1177\/10556656221089156"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2024.167128"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12259"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2016.02.010"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0669-9"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms10328"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006187"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijbiomac.2024.135692"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature25449"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2016.03.005"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.181723"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2023.1120420"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.isci.2024.109585"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.abf0907"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2009.10.026"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0010367"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2004.064139"},{"key":"e_1_3_3_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajpath.2023.05.008"},{"key":"e_1_3_3_26_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.77.10.642"},{"key":"e_1_3_3_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajoms.2020.06.006"},{"key":"e_1_3_3_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhazmat.2023.131722"},{"key":"e_1_3_3_29_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btae615"},{"key":"e_1_3_3_30_2","unstructured":"Oliveros JC. 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