{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T23:40:00Z","timestamp":1788824400439,"version":"build-2803163510"},"reference-count":24,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,10,6]],"date-time":"2017-10-06T00:00:00Z","timestamp":1507248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["K23DE00462"],"award-info":[{"award-number":["K23DE00462"]}],"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":["R01 DE016886"],"award-info":[{"award-number":["R01 DE016886"]}],"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":["R03 DE016342"],"award-info":[{"award-number":["R03 DE016342"]}],"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":["R21 DE022419"],"award-info":[{"award-number":["R21 DE022419"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["R01 GM110373"],"award-info":[{"award-number":["R01 GM110373"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>Craniosynostosis presents either as a nonsyndromic congenital anomaly or as a finding in nearly 200 genetic syndromes. Our previous genome\u2010wide association study of sagittal nonsyndromic craniosynostosis identified associations with variants downstream from <jats:italic>BMP2<\/jats:italic> and intronic in <jats:italic>BBS9<\/jats:italic>. Because no coding variants in <jats:italic>BMP2<\/jats:italic> were identified, we hypothesized that conserved non\u2010coding regulatory elements may alter <jats:italic>BMP2<\/jats:italic> expression. In order to identify and characterize noncoding regulatory elements near <jats:italic>BMP2,<\/jats:italic> two conserved noncoding regions near the associated region on chromosome 20 were tested for regulatory activity with a <jats:italic>Renilla<\/jats:italic> luciferase assay. For a 711 base pair noncoding fragment encompassing the most strongly associated variant, rs1884302, the luciferase assay showed that the risk allele (C) of rs1884302 drives higher expression of the reporter than the common allele (T). When this same DNA fragment was tested in zebrafish transgenesis studies, a strikingly different expression pattern of the green fluorescent reporter was observed depending on whether the transgenic fish had the risk (C) or the common (T) allele at rs1884302. The in vitro results suggest that altered <jats:italic>BMP2<\/jats:italic> regulatory function at rs1884302 may contribute to the etiology of sagittal nonsyndromic craniosynostosis. The in vivo results indicate that differences in regulatory activity depend on the presence of a C or T allele at rs1884302.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38392","type":"journal-article","created":{"date-parts":[[2017,10,6]],"date-time":"2017-10-06T13:26:37Z","timestamp":1507296397000},"page":"2893-2897","source":"Crossref","is-referenced-by-count":19,"title":["A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non\u2010coding element"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6190-6821","authenticated-orcid":false,"given":"Cristina M.","family":"Justice","sequence":"first","affiliation":[{"name":"Genometrics Section Computational and Statistical Genomics Branch National Human Genome Research Institute National Institutes of Health Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinoh","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Genomic Medicine Department of Pediatrics University of California Davis Medical Center Sacramento California"},{"name":"Department of Biomedical Sciences Iowa State University Ames Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sun\u2010Don","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Genomic Medicine Department of Pediatrics University of California Davis Medical Center Sacramento California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyunhgho","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Genomic Medicine Department of Pediatrics University of California Davis Medical Center Sacramento California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garima","family":"Yagnik","sequence":"additional","affiliation":[{"name":"Division of Genomic Medicine Department of Pediatrics University of California Davis Medical Center Sacramento California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Araceli","family":"Cuellar","sequence":"additional","affiliation":[{"name":"Division of Genomic Medicine Department of Pediatrics University of California Davis Medical Center Sacramento California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blake","family":"Carrington","sequence":"additional","affiliation":[{"name":"Zebrafish Core Translational and Functional Genomics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chung\u2010Ling","family":"Lu","sequence":"additional","affiliation":[{"name":"Division of Genomic Medicine Department of Pediatrics University of California Davis Medical Center Sacramento California"},{"name":"Department of Biomedical Sciences Iowa State University Ames Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raman","family":"Sood","sequence":"additional","affiliation":[{"name":"Zebrafish Core Translational and Functional Genomics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simeon A.","family":"Boyadjiev","sequence":"additional","affiliation":[{"name":"Division of Genomic Medicine Department of Pediatrics University of California Davis Medical Center Sacramento California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander F.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Genometrics Section Computational and Statistical Genomics Branch National Human Genome Research Institute National Institutes of Health Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,10,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp335"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22051"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-6343.2007.00393.x"},{"key":"e_1_2_7_5_1","volume-title":"Craniosynostosis: Diagnosis, Evaluation, and Management","author":"Cohen M. M.","year":"2000"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0b013e3181d62ad4"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2007-8-2-r24"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420140209"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.235"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2463"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2007.08.008"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0b013e318205f2b4"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.1857"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.21343"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<282::AID-AJMG15>3.0.CO;2-G"},{"key":"e_1_2_7_16_1","first-page":"1406","article-title":"Genetic advances in craniosynostosis","volume":"173","author":"Lattanzi W.","year":"2017","journal-title":"American Journal of Medical Sciences"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mod.2014.02.001"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000115035"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1159\/000091100"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002849"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0012-1606(02)00022-2"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.20125"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0034389"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2013-1741"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.3171\/2015.12.PEDS15414"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38392","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38392","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T06:17:12Z","timestamp":1696573032000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38392"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,6]]},"references-count":24,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["10.1002\/ajmg.a.38392"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38392","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,10,6]]}}}