{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T07:00:13Z","timestamp":1792479613832,"version":"4.5.0"},"reference-count":29,"publisher":"National Academy of Sciences","issue":"36","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2006,9,5]]},"abstract":"<jats:p>\n                    Neural crest cells are a migratory cell population that give rise to the majority of the cartilage, bone, connective tissue, and sensory ganglia in the head. Abnormalities in the formation, proliferation, migration, and differentiation phases of the neural crest cell life cycle can lead to craniofacial malformations, which constitute one-third of all congenital birth defects. Treacher Collins syndrome (TCS) is characterized by hypoplasia of the facial bones, cleft palate, and middle and external ear defects. Although TCS results from autosomal dominant mutations of the gene\n                    <jats:italic>TCOF1<\/jats:italic>\n                    , the mechanistic origins of the abnormalities observed in this condition are unknown, and the function of Treacle, the protein encoded by\n                    <jats:italic>TCOF1<\/jats:italic>\n                    , remains poorly understood. To investigate the developmental basis of TCS we generated a mouse model through germ-line mutation of\n                    <jats:italic>Tcof1<\/jats:italic>\n                    . Haploinsufficiency of\n                    <jats:italic>Tcof1<\/jats:italic>\n                    leads to a deficiency in migrating neural crest cells, which results in severe craniofacial malformations. We demonstrate that\n                    <jats:italic>Tcof1<\/jats:italic>\n                    \/Treacle is required cell-autonomously for the formation and proliferation of neural crest cells.\n                    <jats:italic>Tcof1<\/jats:italic>\n                    \/Treacle regulates proliferation by controlling the production of mature ribosomes. Therefore,\n                    <jats:italic>Tcof1<\/jats:italic>\n                    \/Treacle is a unique spatiotemporal regulator of ribosome biogenesis, a deficiency that disrupts neural crest cell formation and proliferation, causing the hypoplasia characteristic of TCS craniofacial anomalies.\n                  <\/jats:p>","DOI":"10.1073\/pnas.0603730103","type":"journal-article","created":{"date-parts":[[2006,8,28]],"date-time":"2006-08-28T22:10:40Z","timestamp":1156803040000},"page":"13403-13408","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":357,"title":["<i>Tcof1<\/i>\n                    \/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities"],"prefix":"10.1073","volume":"103","author":[{"given":"Jill","family":"Dixon","sequence":"first","affiliation":[{"name":"*School of Dentistry and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie C.","family":"Jones","sequence":"additional","affiliation":[{"name":"Stowers Institute for Medical Research, 1000 East 50th Street, Kansas City, MO 64110"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa L.","family":"Sandell","sequence":"additional","affiliation":[{"name":"Stowers Institute for Medical Research, 1000 East 50th Street, Kansas City, MO 64110"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sachintha M.","family":"Jayasinghe","sequence":"additional","affiliation":[{"name":"Stowers Institute for Medical Research, 1000 East 50th Street, Kansas City, MO 64110"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Crane","sequence":"additional","affiliation":[{"name":"Stowers Institute for Medical Research, 1000 East 50th Street, Kansas City, MO 64110"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Philippe","family":"Rey","sequence":"additional","affiliation":[{"name":"Stowers Institute for Medical Research, 1000 East 50th Street, Kansas City, MO 64110"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Dixon","sequence":"additional","affiliation":[{"name":"*School of Dentistry and"},{"name":"Faculty of Life Sciences, University of Manchester, Oxford Road, Manchester M13 9PT, United Kingdom; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul A.","family":"Trainor","sequence":"additional","affiliation":[{"name":"Stowers Institute for Medical Research, 1000 East 50th Street, Kansas City, MO 64110"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2006,9,5]]},"reference":[{"key":"e_1_3_4_1_2","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/B978-012436643-5\/50028-6","volume-title":"Handbook of Stem Cells: Embryonic Stem Cells","author":"Trainor P.","year":"2004","unstructured":"P. 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