{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T07:12:34Z","timestamp":1793085154918,"version":"4.5.0"},"reference-count":46,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,2,13]],"date-time":"2018-02-13T00:00:00Z","timestamp":1518480000000},"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":["R03\u2010DE024596"],"award-info":[{"award-number":["R03\u2010DE024596"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000050","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"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Tooth development is regulated by multiple genetic pathways, which ultimately drive the complex interactions between the oral epithelium and mesenchyme. Disruptions at any time point during this process may lead to failure of tooth development, also known as tooth agenesis (TA). TA is a common craniofacial abnormality in humans and represents the failure to develop one or more permanent teeth. Many genes and potentially subtle variants in these genes contribute to the TA phenotype. We report the clinical and genetic impact of a rare homozygous\n                      <jats:italic>ANTXR1<\/jats:italic>\n                      variant (c.1312C&gt;T), identified by whole exome sequencing (WES), in a consanguineous Turkish family with TA. Mutations in\n                      <jats:italic>ANTXR1<\/jats:italic>\n                      have been associated with GAPO (growth retardation, alopecia, pseudoanodontia, and optic atrophy) syndrome and infantile hemangioma, however no clinical characteristics associated with these conditions were observed in our study family. We detected the expression of Antxr1 in oral and dental tissues of developing mouse embryos, further supporting a role for this gene in tooth development. Our findings implicate\n                      <jats:italic>ANTXR1<\/jats:italic>\n                      as a candidate gene for isolated TA, suggest the involvement of specific hypomorphic alleles, and expand the previously known\n                      <jats:italic>ANTXR1<\/jats:italic>\n                      \u2010associated phenotypes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.38625","type":"journal-article","created":{"date-parts":[[2018,2,13]],"date-time":"2018-02-13T03:18:40Z","timestamp":1518491920000},"page":"1015-1022","source":"Crossref","is-referenced-by-count":18,"title":["A biallelic\n                    <i>ANTXR1<\/i>\n                    variant expands the anthrax toxin receptor associated phenotype to tooth agenesis"],"prefix":"10.1002","volume":"176","author":[{"given":"Nuriye","family":"Dinckan","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Istanbul Medical Faculty Istanbul University Istanbul 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