{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:51:54Z","timestamp":1747183914872,"version":"3.40.5"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,7]],"date-time":"2023-12-07T00:00:00Z","timestamp":1701907200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23ek0109549"],"award-info":[{"award-number":["JP23ek0109549"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP23K15446"],"award-info":[{"award-number":["JP23K15446"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital tracheal stenosis is a rare life\u2010threatening disorder caused by narrow O\u2010shaped tracheal ring without smooth muscle. Its underlying genetic cause has not been elucidated. We performed whole exome sequencing in a patient with congenital tracheal stenosis and congenital heart defect, and identified a de novo pathogenic <jats:italic>TBX5<\/jats:italic> variant (NM_181486.4:c.680T&gt;C, p.(Ile227Thr)). The Ile227Thr\u2010TBX5 protein was predicted to have a decreased stability by in silico protein structural analyses, and was shown to have a significantly reduced activity for the <jats:italic>NPPA<\/jats:italic> promoter by luciferase assay. The results, together with the expression of mouse <jats:italic>Tbx5<\/jats:italic> in the lung and trachea and the development of tracheal cartilage dysplasia in the lung\u2010specific <jats:italic>Tbx5<\/jats:italic> null mice, imply the relevance of <jats:italic>TBX5<\/jats:italic> pathogenic variants to congenital tracheal stenosis.<\/jats:p>","DOI":"10.1111\/cga.12548","type":"journal-article","created":{"date-parts":[[2023,12,8]],"date-time":"2023-12-08T07:10:18Z","timestamp":1702019418000},"page":"23-27","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp><i>TBX5<\/i><\/scp> pathogenic variant in a patient with congenital heart defect and tracheal stenosis"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6001-6395","authenticated-orcid":false,"given":"Kaori","family":"Yamoto","sequence":"first","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine  Hamamatsu Japan"},{"name":"Department of Pediatrics Hamamatsu University School of Medicine  Hamamatsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumiko","family":"Kato","sequence":"additional","affiliation":[{"name":"Hamamatsu Child Health and Developmental Medicine  Hamamatsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaya","family":"Yamoto","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Shizuoka Children's Hospital  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koji","family":"Fukumoto","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Shizuoka Children's Hospital  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2732-8722","authenticated-orcid":false,"given":"Kenji","family":"Shimizu","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics and Cytogenetics Shizuoka Children's Hospital  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0723-0960","authenticated-orcid":false,"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine  Hamamatsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine  Hamamatsu Japan"},{"name":"Department of Pediatrics Hamamatsu University School of Medicine  Hamamatsu Japan"},{"name":"Department of Pediatrics Hamamatsu Medical Center  Hamamatsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,12,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.sempedsurg.2016.02.007"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201809\u20101626OC"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010018\u20100303\u20103"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002866"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010019\u20100473\u20107"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2010.04.052"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/prot.20810"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pro.3942"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0227393"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/376436"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3970"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.126"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31672"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102350\u20109\u201088"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.5812\/ijp.251"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12548","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,22]],"date-time":"2024-01-22T05:46:12Z","timestamp":1705902372000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12548"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,7]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1111\/cga.12548"],"URL":"https:\/\/doi.org\/10.1111\/cga.12548","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"type":"print","value":"0914-3505"},{"type":"electronic","value":"1741-4520"}],"subject":[],"published":{"date-parts":[[2023,12,7]]},"assertion":[{"value":"2023-04-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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