{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:14:42Z","timestamp":1777522482776,"version":"3.51.4"},"reference-count":50,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To determine whether Tgf\u03b2R1 or Tgf\u03b2R2 cause the craniosynostotic phenotype in a rabbit model of nonsyndromic craniosynostosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Full-length Tgf\u03b2R1 and Tgf\u03b2R2 cDNAs were sequenced and real-time reverse-transcription polymerase chain reaction (RT-PCR) was performed to measure Tgf\u03b2R1 and Tgf\u03b2R2 transcripts in suturai tissue from wild type (WT) and craniosynostotic (CS) rabbits. Single nucleotide polymorphisms (SNP) were identified within Tgf\u03b2R1 and Tgf\u03b2R2 and were assayed for segregation with disease phenotype in 22 craniosynostotic animals.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>No structural mutations in Tgf\u03b2R1 and Tgf\u03b2R2 were identified in the craniosynostotic rabbits. Real-time RT-PCR quantification of Tgf\u03b2R1 and Tgf\u03b2R2 mRNA showed no significant difference in Tgf\u03b2R1 expression between CS and WT animals, while Tgf\u03b2R2 showed 50% elevation in the CS animals compared to WT ( P &lt; .05). SNP analysis within the Tgf\u03b2R1 and Tgf\u03b2R2 genes suggested that neither locus is linked to the craniosynostotic phenotype because no allelic combination showed any specific correlation with disease phenotype for either Tgf\u03b2R1 or Tgf\u03b2R2.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our data indicate that the craniosynostotic phenotype in this rabbit model does not arise from any structural mutation in Tgf\u03b2R1 or Tgf\u03b2R2, and SNP analysis also likely excludes these genes more broadly as the site of causative mutation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1597\/12-160","type":"journal-article","created":{"date-parts":[[2013,6,13]],"date-time":"2013-06-13T09:36:04Z","timestamp":1371116164000},"page":"56-69","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["Cloning of Tgf\u03b2R1 and Tgf\u03b2R2 and Likely Exclusion as Loci of Origin in a Rabbit Craniosynostotic Model"],"prefix":"10.1177","volume":"51","author":[{"given":"Phillip H.","family":"Gallo","sequence":"first","affiliation":[{"name":"Department of Surgery, Division of Plastic and Reconstructive Surgery, University of Pittsburgh, Pittsburgh, Pennsylvania."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"James J.","family":"Cray","sequence":"additional","affiliation":[{"name":"Department of Oral Biology, Georgia Health Sciences University, Augusta, Georgia."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily L.","family":"Durham","sequence":"additional","affiliation":[{"name":"Department of Surgery, Division of Plastic and Reconstructive Surgery, University of Pittsburgh, Pittsburgh, Pennsylvania."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph E.","family":"Losee","sequence":"additional","affiliation":[{"name":"Department of Surgery, Division of Plastic and Reconstructive Surgery, University of Pittsburgh, Pittsburgh, Pennsylvania."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark P.","family":"Mooney","sequence":"additional","affiliation":[{"name":"Department of Surgery, Division of Plastic and Reconstructive Surgery, Departments of Anthropology and Orthodontics, and Department of Oral Biology, University of Pittsburgh, Pittsburgh, Pennsylvania."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregory M.","family":"Cooper","sequence":"additional","affiliation":[{"name":"Department of Surgery, Division of Plastic and Reconstructive Surgery, Department of Oral Biology, and Department of Bioengineering, University of Pittsburgh, Pittsburgh, Pennsylvania."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandeep","family":"Kathju","sequence":"additional","affiliation":[{"name":"Department of Surgery, Division of Plastic and Reconstructive Surgery, University of Pittsburgh, Pittsburgh, Pennsylvania."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2014,1,1]]},"reference":[{"key":"bibr1-12-160","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e328303e5d3"},{"key":"bibr2-12-160","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31202"},{"key":"bibr3-12-160","unstructured":"BLAST. 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