{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:51:08Z","timestamp":1753894268921,"version":"3.41.2"},"reference-count":38,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"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":["Gene\ufffdRegul Syst Bio"],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p> The premature fusion of one cranial suture, also referred to as non-syndromic craniosynostosis, most commonly involves premature fusion of the sagittal, coronal, or metopic sutures, in that order. Population-based epidemiological studies have found that the birth prevalence of single-suture craniosynostosis is both suture- and sex-dependent. <\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p> Transcriptomic data from 199 individuals with isolated sagittal (n = 100), unilateral coronal (n = 50), and metopic (n = 49) synostosis were compared against a control population (n = 50) to identify transcripts accounting for the different sex-based frequencies observed in this disease. <\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p> Differential sex-based gene expression was classified as either gained (divergent) or lost (convergent) in affected individuals to identify transcripts related to disease predilection. Divergent expression was dependent on synostosis sub-type, and was extensive in metopic craniosynostosis specifically. Convergent microarray-based expression was independent of synostosis sub-type, with convergent expression of FBN2, IGF2BP3, PDE1C and TINAGL1 being the most robust across all synostosis sub-types. <\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p> Analysis of sex-based gene expression followed by validation by qRT-PCR identified that concurrent upregulation of FBN2 and IGF2BP3, and downregulation of TINAGL1 in craniosynostosis cases were all associated with increased RUNX2 expression and may represent a transcriptomic signature that can be used to characterize a subset of single-suture craniosynostosis cases. <\/jats:p><\/jats:sec>","DOI":"10.4137\/grsb.s9693","type":"journal-article","created":{"date-parts":[[2012,5,17]],"date-time":"2012-05-17T13:25:30Z","timestamp":1337261130000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Unique Sex-Based Approach Identifies Transcriptomic Biomarkers Associated with Non-Syndromic Craniosynostosis"],"prefix":"10.4137","volume":"6","author":[{"given":"Brendan D.","family":"Stamper","sequence":"first","affiliation":[{"name":"Center for Tissue and Cell Sciences, Seattle Children's Research Institute, Seattle, WA 98101, USA."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah S.","family":"Park","sequence":"additional","affiliation":[{"name":"Center for Tissue and Cell Sciences, Seattle Children's Research Institute, Seattle, WA 98101, USA."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard P.","family":"Beyer","sequence":"additional","affiliation":[{"name":"Department of Environmental and Occupational Health Sciences, University of Washington, Seattle, WA 98195, USA."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theo K.","family":"Bammler","sequence":"additional","affiliation":[{"name":"Department of Environmental and Occupational Health Sciences, University of Washington, Seattle, WA 98195, USA."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael L.","family":"Cunningham","sequence":"additional","affiliation":[{"name":"Center for Tissue and Cell Sciences, Seattle Children's Research Institute, Seattle, WA 98101, USA."},{"name":"Seattle Children's Craniofacial Center, Seattle WA 98145, 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