{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T20:46:03Z","timestamp":1740170763786,"version":"3.37.3"},"reference-count":58,"publisher":"Wiley","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["1-R01-DE019430-02"],"award-info":[{"award-number":["1-R01-DE019430-02"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008317","name":"American Cleft Palate Association","doi-asserted-by":"crossref","award":["1-R01-DE019430-02"],"award-info":[{"award-number":["1-R01-DE019430-02"]}],"id":[{"id":"10.13039\/100008317","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["International Journal of Genomics"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>Craniosynostosis is the premature fusion of the cranial vault sutures. We have previously described a colony of rabbits with a heritable pattern of nonsyndromic, coronal suture synostosis; however, the underlying genetic defect remains unknown. We now report a molecular analysis to determine if four genes implicated in human craniosynostosis, TWIST1 and fibroblast growth factor receptors 1\u20133 (FGFR1\u20133), could be the loci of the causative mutation in this unique rabbit model. Single nucleotide polymorphisms (SNPs) were identified within the Twist1, FGFR1, and FGFR2 genes, and the allelic patterns of these silent mutations were examined in 22 craniosynostotic rabbits. SNP analysis of the Twist1, FGFR1, and FGFR2 genes indicated that none were the locus of origin of the craniosynostotic phenotype. In addition, no structural mutations were identified by direct sequence analysis of Twist1 and FGFR3 cDNAs. These data indicate that the causative locus for heritable craniosynostosis in this rabbit model is not within the Twist1, FGFR1, and FGFR2 genes. Although a locus in intronic or flanking sequences of FGFR3 remains possible, no direct structural mutation was identified for FGFR3.<\/jats:p>","DOI":"10.1155\/2013\/305971","type":"journal-article","created":{"date-parts":[[2013,5,8]],"date-time":"2013-05-08T17:35:36Z","timestamp":1368034536000},"page":"1-10","source":"Crossref","is-referenced-by-count":4,"title":["Molecular Analysis of Twist1 and FGF Receptors in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin"],"prefix":"10.1155","volume":"2013","author":[{"given":"Phillip H.","family":"Gallo","sequence":"first","affiliation":[{"name":"Department of Plastic Surgery, University of Pittsburgh, Pittsburgh, PA 15261, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James J.","family":"Cray","sequence":"additional","affiliation":[{"name":"Department of Oral Biology, Georgia Health Sciences University, Augusta, GA 30912, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily L.","family":"Durham","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery, University of Pittsburgh, Pittsburgh, PA 15261, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark P.","family":"Mooney","sequence":"additional","affiliation":[{"name":"Departments of Anthropology and Orthodontics, University of Pittsburgh, Pittsburgh, PA 15261, USA"},{"name":"Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA 15261, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregory M.","family":"Cooper","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery, University of Pittsburgh, Pittsburgh, PA 15261, USA"},{"name":"Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA 15261, USA"},{"name":"Department of Bioengineering, University of Pittsburgh, Pittsburgh, PA 15261, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4100-2200","authenticated-orcid":true,"given":"Sandeep","family":"Kathju","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery, University of Pittsburgh, Pittsburgh, PA 15261, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"issue":"4","key":"1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1017\/S1462399403005751","volume":"5","year":"2003","journal-title":"Expert Reviews in Molecular Medicine"},{"year":"2000","key":"2"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30757"},{"issue":"5","key":"4","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1111\/j.1469-7580.2005.00475.x","volume":"207","year":"2005","journal-title":"Journal of Anatomy"},{"volume-title":"Cranial sutures and calvaria: normal development and craniosynostosis","key":"5"},{"year":"2007","key":"6"},{"year":"2001","key":"7"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1016\/j.bjps.2007.10.042"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-008-0691-8"},{"issue":"6","key":"10","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/S1130-1473(08)70201-X","volume":"19","year":"2008","journal-title":"Neurocirugia"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-007-0436-0"},{"issue":"4","key":"12","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1002\/1097-0177(2000)9999:9999<::AID-DVDY1073>3.0.CO;2-F","volume":"219","year":"2000","journal-title":"Developmental Dynamics"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1248\/bpb.30.1819"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-0825.2005.01176.x"},{"key":"15","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1159\/000115035","volume":"12","year":"2008","journal-title":"Frontiers of Oral Biology"},{"issue":"1","key":"16","first-page":"5","volume":"2","year":"2009","journal-title":"Journal of Medicine and Life"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.10.1647"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-8-458"},{"first-page":"1","volume-title":"Mechanisms of craniofacial development","year":"1998","key":"19"},{"key":"20","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1159\/000115035","volume":"12","year":"2008","journal-title":"Frontiers of Oral Biology"},{"key":"21","first-page":"160","volume":"12","year":"2008","journal-title":"Frontiers of Oral Biology"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1016\/j.cytogfr.2005.01.008"},{"key":"23","doi-asserted-by":"publisher","DOI":"10.1097\/01.SCS.0000157078.53871.11"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.1097\/01.PRS.0000146703.08958.95"},{"key":"25","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.121183798"},{"first-page":"125","volume-title":"Genetic etiologies of craniosynostoses","year":"2002","key":"26"},{"key":"27","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201325"},{"key":"28","doi-asserted-by":"publisher","DOI":"10.1086\/302831"},{"key":"29","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201558"},{"key":"30","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-269"},{"key":"31","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-19"},{"key":"32","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1271"},{"key":"36","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-36"},{"key":"37","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-42"},{"key":"38","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.7.1079"},{"key":"39","first-page":"678","volume":"143","year":"2007","journal-title":"American Journal of Medical Genetics A"},{"key":"40","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2010.07.013"},{"key":"41","doi-asserted-by":"publisher","DOI":"10.1002\/ar.10124"},{"issue":"1","key":"42","first-page":"52","volume":"16","year":"1996","journal-title":"Journal of Craniofacial Genetics and Developmental Biology"},{"issue":"1","key":"43","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1597\/1545-1569(1994)031<0008:DOASOR>2.3.CO;2","volume":"31","year":"1994","journal-title":"Cleft Palate-Craniofacial Journal"},{"issue":"1","key":"44","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1597\/1545-1569(1994)031<0001:DOASOR>2.3.CO;2","volume":"31","year":"1994","journal-title":"Cleft Palate-Craniofacial Journal"},{"key":"45","doi-asserted-by":"publisher","DOI":"10.1007\/s003810050220"},{"key":"46","doi-asserted-by":"publisher","DOI":"10.1007\/s003810050219"},{"issue":"5","key":"47","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1597\/1545-1569(1996)033<0369:CSPASP>2.3.CO;2","volume":"33","year":"1996","journal-title":"Cleft Palate-Craniofacial Journal"},{"key":"48","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0b013e31821740e8"},{"key":"49","doi-asserted-by":"publisher","DOI":"10.3109\/10425170009033994"},{"key":"51","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M107785200"},{"key":"52","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.4.685"},{"key":"53","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.15.5812"},{"key":"54","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1230"},{"key":"33","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-6343.2007.00389.x"},{"issue":"3","key":"55","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1002\/1097-0185(20001101)260:3<238::AID-AR40>3.0.CO;2-Q","volume":"260","year":"2000","journal-title":"The Anatomical Record"},{"issue":"5","key":"56","doi-asserted-by":"crossref","first-page":"814e","DOI":"10.1097\/PRS.0b013e31824a2dda","volume":"129","year":"2012","journal-title":"Plastic and Reconstructive Surgery"},{"year":"2001","key":"57"},{"volume":"75, article 120","journal-title":"Journal of Dental Research","year":"1996","key":"58"},{"key":"59","doi-asserted-by":"publisher","DOI":"10.1038\/74224"},{"issue":"3","key":"60","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1038\/ng.2531","volume":"45","year":"2013","journal-title":"Nature Genetics"},{"key":"61","doi-asserted-by":"publisher","DOI":"10.1101\/gr.5681207"}],"container-title":["International Journal of Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/ijg\/2013\/305971.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/ijg\/2013\/305971.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/ijg\/2013\/305971.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,7,13]],"date-time":"2019-07-13T11:21:00Z","timestamp":1563016860000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/ijg\/2013\/305971\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":58,"alternative-id":["305971","305971"],"URL":"https:\/\/doi.org\/10.1155\/2013\/305971","relation":{},"ISSN":["2314-436X","2314-4378"],"issn-type":[{"type":"print","value":"2314-436X"},{"type":"electronic","value":"2314-4378"}],"subject":[],"published":{"date-parts":[[2013]]}}}