{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T08:43:40Z","timestamp":1767861820420,"version":"3.49.0"},"reference-count":28,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T00:00:00Z","timestamp":1588032000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["R01\u2010DE016148"],"award-info":[{"award-number":["R01\u2010DE016148"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["U01\u2010DE020078"],"award-info":[{"award-number":["U01\u2010DE020078"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01\u2010AR057117\u201005"],"award-info":[{"award-number":["R01\u2010AR057117\u201005"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Cartilage oligomeric matrix protein (COMP) is an important extracellular matrix protein primarily functioning in the musculoskeletal tissues and especially endochondral bone growth. Mutations in <jats:italic>COMP<\/jats:italic> cause the skeletal dysplasia pseudoachondroplasia (PSACH) that is characterized by short limbs and fingers, joint laxity, and abnormalities but a striking lack of skull and facial abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This study examined both mice and humans to determine how mutant\u2010COMP affects face and skull growth.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Mutant COMP (MT\u2010COMP) mice were phenotypically distinct. Snout length and skull height were diminished in MT\u2010COMP mouse and the face more closely resembled younger controls. Three\u2010dimensional facial measurements of PSACH faces showed widely spaced eyes, reduced lower facial height, and decreased nasal protrusion, which correlated with a more juvenile appearing face. Neither MT\u2010COMP mice nor PSACH individuals show midface hypoplasia usually associated with abnormal endochondral bone growth. MT\u2010COMP mice do show delayed endochondral and membranous skull ossification that normalizes with age.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Therefore, mutant\u2010COMP affects both endochondral and intramembranous bones of the skull resulting in a reduction of the nose and lower facial height in mice and humans, in addition to its well\u2010defined role in the growth plate chondrocytes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1251","type":"journal-article","created":{"date-parts":[[2020,4,29]],"date-time":"2020-04-29T03:59:28Z","timestamp":1588132768000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Mutant COMP shapes growth and development of skull and facial structures in mice and humans"],"prefix":"10.1002","volume":"8","author":[{"given":"Alexander","family":"Burger","sequence":"first","affiliation":[{"name":"Center for Craniofacial Research UTHealth School of Dentistry Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jasmien","family":"Roosenboom","sequence":"additional","affiliation":[{"name":"Department of Oral Biology University of Pittsburgh Pittsburgh PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Hossain","sequence":"additional","affiliation":[{"name":"Department of Pediatrics McGovern Medical School The University of Texas Health Science Center at Houston (UTHealth) Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seth M.","family":"Weinberg","sequence":"additional","affiliation":[{"name":"Department of Oral Biology University of Pittsburgh Pittsburgh PA USA"},{"name":"Department of Human Genetics University of Pittsburgh Pittsburgh PA USA"},{"name":"Department of Anthropology University of Pittsburgh Pittsburgh PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline T.","family":"Hecht","sequence":"additional","affiliation":[{"name":"Center for Craniofacial Research UTHealth School of Dentistry Houston TX USA"},{"name":"Department of Pediatrics McGovern Medical School The University of Texas Health Science Center at Houston (UTHealth) Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1234-6087","authenticated-orcid":false,"given":"Karen L.","family":"Posey","sequence":"additional","affiliation":[{"name":"Department of Pediatrics McGovern Medical School The University of Texas Health Science Center at Houston (UTHealth) Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,4,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30959"},{"key":"e_1_2_9_3_1","volume-title":"Embryology, bone ossification","author":"Breeland G.","year":"2019"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijom.2017.08.008"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2017.12.014"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981228)80:5<510::AID-AJMG14>3.0.CO;2-F"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<486::AID-AJMG10>3.0.CO;2-O"},{"issue":"4","key":"e_1_2_9_8_1","first-page":"270","article-title":"Influence of the nasal septum on maxillonasal growth in patients with congenital labiomaxillary cleft","volume":"23","author":"Delaire J.","year":"1986","journal-title":"Cleft Palate J"},{"issue":"2","key":"e_1_2_9_9_1","first-page":"45","article-title":"Correlation between micro\u2010Ct sections and histological sections of mouse skull defects implanted with engineered cartilage","volume":"22","author":"Duke P. 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