{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T19:40:48Z","timestamp":1790278848464,"version":"4.1.0"},"reference-count":40,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2024,12,20]],"date-time":"2024-12-20T00:00:00Z","timestamp":1734652800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["R01DE029417"],"award-info":[{"award-number":["R01DE029417"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Dent Res"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:p>\n                    Both the upper and lower jaws develop from cranial neural crest cells (CNCCs) populating the first pharyngeal arch in all gnathostomes. Previous studies showed that the Edn1\/Ednra-Dlx5\/Dlx6-Hand2 signaling pathway is necessary for lower jaw formation and that ectopic expression of\n                    <jats:italic>Edn1<\/jats:italic>\n                    or\n                    <jats:italic>Hand2<\/jats:italic>\n                    throughout the CNCCs partly transformed the upper jaw to lower jaw structures, but the molecular mechanisms regulating upper jaw development remain unclear. Here we show that the basic helix-loop-helix transcription factor Twist1 is required for upper jaw development. Whereas the\n                    <jats:italic>\n                      Twist1\n                      <jats:sup>fl\/fl<\/jats:sup>\n                    <\/jats:italic>\n                    ;\n                    <jats:italic>Wnt1-Cre<\/jats:italic>\n                    mouse embryos, with tissue-specific inactivation of\n                    <jats:italic>Twist1<\/jats:italic>\n                    in premigratory CNCCs, exhibited aberrantly persistent expression of the key neuroglial lineage regulator Sox10 in the postmigratory CNCCs populating the facial primordia, we found that genetic inactivation of\n                    <jats:italic>Sox10<\/jats:italic>\n                    did not rescue the defects in CNCC survival and patterning in\n                    <jats:italic>\n                      Twist1\n                      <jats:sup>fl\/fl<\/jats:sup>\n                    <\/jats:italic>\n                    ;\n                    <jats:italic>Wnt1-Cre<\/jats:italic>\n                    embryos. However, analysis of\n                    <jats:italic>\n                      Sox10\n                      <jats:sup>fl\/+<\/jats:sup>\n                    <\/jats:italic>\n                    ;\n                    <jats:italic>\n                      Twist1\n                      <jats:sup>fl\/fl<\/jats:sup>\n                    <\/jats:italic>\n                    ;\n                    <jats:italic>Wnt1-Cre<\/jats:italic>\n                    mice revealed duplicated mandibular structures, including ectopic Meckel\u2019s cartilage, in place of the maxilla. Both\n                    <jats:italic>\n                      Sox10\n                      <jats:sup>fl\/+<\/jats:sup>\n                    <\/jats:italic>\n                    ;\n                    <jats:italic>\n                      Twist1\n                      <jats:sup>fl\/fl<\/jats:sup>\n                    <\/jats:italic>\n                    ;\n                    <jats:italic>Wnt1-Cre<\/jats:italic>\n                    and\n                    <jats:italic>\n                      Sox10\n                      <jats:sup>fl\/fl<\/jats:sup>\n                    <\/jats:italic>\n                    ;\n                    <jats:italic>\n                      Twist1\n                      <jats:sup>fl\/fl<\/jats:sup>\n                    <\/jats:italic>\n                    ;\n                    <jats:italic>Wnt1-Cre<\/jats:italic>\n                    embryos exhibited ectopic expression of\n                    <jats:italic>Dlx5<\/jats:italic>\n                    and\n                    <jats:italic>Hand2<\/jats:italic>\n                    in the developing maxillary processes at E10.5. Furthermore, we found that\n                    <jats:italic>\n                      Twist1\n                      <jats:sup>fl\/fl<\/jats:sup>\n                    <\/jats:italic>\n                    ;\n                    <jats:italic>Wnt1-Cre<\/jats:italic>\n                    embryos also expressed\n                    <jats:italic>Dlx5<\/jats:italic>\n                    and\n                    <jats:italic>Hand2<\/jats:italic>\n                    ectopically in the maxillary domain at E10.5 and subsequently developed Meckel\u2019s cartilage\u2013like cartilage rods bilaterally at the maxillary region. However, the expression of\n                    <jats:italic>Edn1<\/jats:italic>\n                    was unaltered in the developing\n                    <jats:italic>\n                      Twist1\n                      <jats:sup>fl\/fl<\/jats:sup>\n                    <\/jats:italic>\n                    ;\n                    <jats:italic>Wnt1-Cre<\/jats:italic>\n                    embryos, indicating that Twist1 functions in the CNCC-derived facial mesenchyme to regulate the Dlx5-Hand2 pathway without affecting\n                    <jats:italic>Edn1<\/jats:italic>\n                    expression in the epithelial and mesodermal compartments. We further show that Twist1 represses reporter gene activation driven by the\n                    <jats:italic>Dlx5\/Dlx6<\/jats:italic>\n                    intergenic enhancer known to drive\n                    <jats:italic>Dlx5\/Dlx6<\/jats:italic>\n                    expression in the developing mandibular arch. Together, these data identify a new role of Twist1 in patterning the regional identities of the CNCC-derived facial mesenchyme and provide novel insight into the pathogenic mechanisms underlying\n                    <jats:italic>TWIST1<\/jats:italic>\n                    -related craniofacial developmental disorders.\n                  <\/jats:p>","DOI":"10.1177\/00220345241291527","type":"journal-article","created":{"date-parts":[[2024,12,20]],"date-time":"2024-12-20T23:43:29Z","timestamp":1734738209000},"page":"310-319","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":8,"title":["Twist1 Acts Upstream of the Dlx5-Hand2 Pathway to Pattern the Mammalian Jaw"],"prefix":"10.1177","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8922-2114","authenticated-orcid":false,"given":"N.","family":"Adhikari","sequence":"first","affiliation":[{"name":"Division of Developmental Biology, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.","family":"Wu","sequence":"additional","affiliation":[{"name":"Division of Developmental Biology, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA"},{"name":"Faculty of Dentistry, The University of Hong Kong, Hong Kong SAR"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Huang","sequence":"additional","affiliation":[{"name":"Division of Developmental Biology, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA"},{"name":"Graduate Program in Development, Stem Cells, and Regenerative Medicine, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Lan","sequence":"additional","affiliation":[{"name":"Division of Developmental Biology, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA"},{"name":"Division of Plastic Surgery, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA"},{"name":"Departments of Pediatrics and Surgery, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7842-4696","authenticated-orcid":false,"given":"R.","family":"Jiang","sequence":"additional","affiliation":[{"name":"Division of Developmental Biology, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA"},{"name":"Division of Plastic Surgery, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA"},{"name":"Departments of Pediatrics and Surgery, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,12,20]]},"reference":[{"key":"e_1_3_3_2_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.200068"},{"key":"e_1_3_3_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/gene.10156"},{"key":"e_1_3_3_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2009.04.034"},{"key":"e_1_3_3_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.931701"},{"key":"e_1_3_3_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvg.20332"},{"key":"e_1_3_3_7_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.9.6.686"},{"key":"e_1_3_3_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33568"},{"key":"e_1_3_3_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(07)00562-3"},{"key":"e_1_3_3_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002710"},{"key":"e_1_3_3_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1075703"},{"key":"e_1_3_3_12_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.21.4127"},{"key":"e_1_3_3_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-42"},{"key":"e_1_3_3_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep28405"},{"key":"e_1_3_3_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36505"},{"key":"e_1_3_3_16_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.073064"},{"key":"e_1_3_3_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-36"},{"issue":"16","key":"e_1_3_3_18_1","first-page":"2775","article-title":"Endothelin signaling activates Mef2c expression in the neural crest through a MEF2C-dependent positive-feedback transcriptional pathway","volume":"142","author":"Hu J","year":"2015","unstructured":"Hu J, Verzi MP, Robinson AS, Tang PL-F, Hua LL, Xu S-M, Kwok P-Y, Black BL. 2015. 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