{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T03:58:55Z","timestamp":1788926335068,"version":"build-2803163510"},"reference-count":52,"publisher":"American Society for Clinical Investigation","issue":"16","license":[{"start":{"date-parts":[[2024,8,22]],"date-time":"2024-08-22T00:00:00Z","timestamp":1724284800000},"content-version":"vor","delay-in-days":35,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["R24OD035402,R01DK135270,R01DK135271"],"award-info":[{"award-number":["R24OD035402,R01DK135270,R01DK135271"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,22]]},"abstract":"<jats:p>\n                    Craniofacial dysmorphisms are among the most common birth defects. Proteasome mutations frequently result in craniofacial dysmorphisms, including lower jaw malformations; however, the underlying mechanisms are unknown. Here, we used a zebrafish proteasome subunit \u03b2 1 (\n                    <jats:italic>psmb1<\/jats:italic>\n                    ) mutant to define the cellular mechanisms underlying proteasome mutation-induced craniofacial dysmorphisms.\n                    <jats:italic>psmb1<\/jats:italic>\n                    mutants exhibited a flattened ceratohyal and smaller Meckel\u2019s and palatoquadrate cartilages. Ceratohyal flattening was a result of failed chondrocyte convergent extension, accompanied by reduced numbers of chondrocytes in the lower jaw due to defects in chondrocyte differentiation. Morphogenesis of craniofacial muscles and tendons was similarly perturbed.\n                    <jats:italic>psmb1<\/jats:italic>\n                    mutants lacked the hyohyal muscles, and craniofacial tendons were shortened and disorganized. We additionally identified a critical period for proteasome function in craniofacial development, specifically during chondrocyte and muscle differentiation.\n                    <jats:italic>psmb1<\/jats:italic>\n                    overexpression in\n                    <jats:italic>\n                      sox10\n                      <jats:sup>+<\/jats:sup>\n                    <\/jats:italic>\n                    cells of mutant embryos rescued both cartilage and tendon phenotypes but induced only a partial rescue of the muscle phenotype, indicating that\n                    <jats:italic>psmb1<\/jats:italic>\n                    was required in both tissue-autonomous and nonautonomous fashions during craniofacial development. Overall, our work demonstrates that\n                    <jats:italic>psmb1<\/jats:italic>\n                    is required for craniofacial cartilage, tendon, and muscle differentiation and morphogenesis.\n                  <\/jats:p>","DOI":"10.1172\/jci.insight.181723","type":"journal-article","created":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T20:40:42Z","timestamp":1779136842000},"source":"Crossref","is-referenced-by-count":4,"title":["The proteasome subunit psmb1 is essential for craniofacial cartilage maturation and morphogenesis"],"prefix":"10.1172","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9868-5436","authenticated-orcid":true,"given":"Bess M.","family":"Miller","sequence":"first","affiliation":[{"name":"Division of Genetics, Brigham and Women\u2019s Hospital, Harvard Medical School, Boston, Massachusetts, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9972-1569","authenticated-orcid":true,"given":"Wolfram","family":"Goessling","sequence":"additional","affiliation":[{"name":"Division of Genetics, Brigham and Women\u2019s Hospital, Harvard Medical School, Boston, Massachusetts, USA."},{"name":"Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA."},{"name":"Harvard Stem Cell Institute, Cambridge, Massachusetts, USA."},{"name":"Harvard-MIT Division of Health Sciences and Technology, Cambridge, Massachusetts, USA."},{"name":"Division of Gastroenterology, Massachusetts General Hospital, Boston, Massachusetts, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"232","published-online":{"date-parts":[[2024,7,18]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1589"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1597\/03-214.1"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31375"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1001\/jamapediatrics.2017.1919"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2017.21896"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.68"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2013-3319"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(19)30150-4"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2015-4256"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.156914"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.01.003"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201911861"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddaa032"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1101\/gad.13.20.2713"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1038\/ng896"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.10381"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1186\/1471-213X-8-105"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1998.9016"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004726"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M301032200"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2017.01.019"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy268"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms16077"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1001216"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.1242\/dev.104067"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.1242\/dev.002501"},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1242\/dev.122.5.1417"},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.1002\/dvg.23097"},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2011.07.015"},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2012.07.026"},{"key":"B31","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0050523"},{"key":"B32","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-06-3982"},{"key":"B33","doi-asserted-by":"publisher","DOI":"10.1210\/en.2005-1672"},{"key":"B34","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djt459"},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(98)00883-7"},{"key":"B36","doi-asserted-by":"publisher","DOI":"10.1023\/A:1006877214153"},{"issue":"2","key":"B37","first-page":"127","article-title":"The involvement of proteasome in myogenic differentiation of murine myocytes and human rhabdomyosarcoma cells","volume":"3","author":"Mugita","year":"1999","journal-title":"Int J Mol Med"},{"key":"B38","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.150961"},{"key":"B39","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.031"},{"key":"B40","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e318260f20b"},{"key":"B41","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007112"},{"key":"B42","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2006.08.042"},{"key":"B43","doi-asserted-by":"publisher","DOI":"10.1242\/dev.087858"},{"key":"B44","doi-asserted-by":"publisher","DOI":"10.1016\/S0012-1606(02)00017-9"},{"key":"B45","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2002.0711"},{"key":"B46","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0403929101"},{"key":"B47","doi-asserted-by":"publisher","DOI":"10.1186\/s12915-014-0055-7"},{"key":"B48","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2007.514"},{"key":"B49","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts635"},{"key":"B50","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-014-0550-8"},{"key":"B51","doi-asserted-by":"publisher","DOI":"10.1016\/j.xinn.2021.100141"},{"key":"B52","doi-asserted-by":"publisher","DOI":"10.1016\/j.xpro.2021.100526"}],"container-title":["JCI Insight"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/insight.jci.org\/articles\/view\/181723\/files\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T20:41:17Z","timestamp":1779136877000},"score":1,"resource":{"primary":{"URL":"https:\/\/insight.jci.org\/articles\/view\/181723"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,18]]},"references-count":52,"journal-issue":{"issue":"16","published-online":{"date-parts":[[2024,7,18]]},"published-print":{"date-parts":[[2024,8,22]]}},"alternative-id":["10.1172\/jci.insight.181723"],"URL":"https:\/\/doi.org\/10.1172\/jci.insight.181723","relation":{},"ISSN":["2379-3708"],"issn-type":[{"value":"2379-3708","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,18]]},"article-number":"e181723"}}