{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:53:57Z","timestamp":1772160837751,"version":"3.50.1"},"reference-count":31,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T00:00:00Z","timestamp":1706486400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Tooth agenesis is a common craniofacial malformation, which is often associated with gene mutations. The purpose of this research was to investigate and uncover ectodysplasin A (\n                      <jats:italic>EDA<\/jats:italic>\n                      ) gene variants in eight Chinese families affected with tooth agenesis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Genomic DNA was extracted from tooth agenesis families and sequenced using whole\u2010exome sequencing. The expression of ectodysplasin A1 (EDA1) protein was studied by western blot, binding activity with receptor was tested by pull\u2010down and the NF\u2010\u03baB transcriptional activity was analyzed by Dual luciferase assay.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Eight\n                      <jats:italic>EDA<\/jats:italic>\n                      missense variants were discovered, of which two (c.T812C, c.A1073G) were novel. The bioinformatics analysis indicated that these variants might be pathogenic. The tertiary structure analysis revealed that these eight variants could cause structural damage to EDA proteins. In\u00a0vitro functional studies demonstrated that the variants greatly affect protein stability or impair the EDA\u2010EDAR interaction; thereby significantly affecting the downstream NF\u2010\u03bab transcriptional activity. In addition, we summarized the genotype\u2013phenotype correlation caused by\n                      <jats:italic>EDA<\/jats:italic>\n                      variants and found that\n                      <jats:italic>EDA<\/jats:italic>\n                      mutations leading to NSTA are mostly missense mutations located in the TNF domain.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Our results broaden the variant spectrum of the\n                      <jats:italic>EDA<\/jats:italic>\n                      gene associated with tooth agenesis and provide valuable information for future genetic counseling.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/odi.14878","type":"journal-article","created":{"date-parts":[[2024,1,30]],"date-time":"2024-01-30T00:54:38Z","timestamp":1706576078000},"page":"4598-4607","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Eight\n                    <scp>\n                      <i>EDA<\/i>\n                    <\/scp>\n                    mutations in Chinese patients with tooth agenesis and genotype\u2013phenotype analysis"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7552-6515","authenticated-orcid":false,"given":"Kang","family":"Yu","sequence":"first","affiliation":[{"name":"Department of Second Dental Center, Ninth People's Hospital Affiliated with Shanghai Jiao Tong University, School of Medicine, Shanghai Key Laboratory of Stomatology National Clinical Research Center of Stomatology  Shanghai China"},{"name":"Ninth People's Hospital Shanghai Jiao Tong 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