{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T17:09:46Z","timestamp":1788282586861,"version":"build-2803163510"},"reference-count":65,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["R03 HL133420"],"award-info":[{"award-number":["R03 HL133420"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["R01 HL144774"],"award-info":[{"award-number":["R01 HL144774"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["U54 HL127672"],"award-info":[{"award-number":["U54 HL127672"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["U01 HL122642"],"award-info":[{"award-number":["U01 HL122642"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["U01 HL134745"],"award-info":[{"award-number":["U01 HL134745"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["GH006888"],"award-info":[{"award-number":["GH006888"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.atsjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Rationale<\/jats:title>\n                    <jats:p>Complete tracheal ring deformity (CTRD) is a rare congenital abnormality of unknown etiology characterized by circumferentially continuous or nearly continuous cartilaginous tracheal rings, variable degrees of tracheal stenosis and\/or shortening, and\/or pulmonary arterial sling anomaly.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To test the hypothesis that CTRD is caused by inherited or de novo mutations in genes required for normal tracheal development.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>CTRD and normal tracheal tissues were examined microscopically to define the tracheal abnormalities present in CTRD. Whole-exome sequencing was performed in children with CTRD and their biological parents (\u201ctrio analysis\u201d) to identify gene variants in patients with CTRD. Mutations were confirmed by Sanger sequencing, and their potential impact on structure and\/or function of encoded proteins was examined using human gene mutation databases. Relevance was further examined by comparison with the effects of targeted deletion of murine homologs important to tracheal development in mice.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Measurements and Main Results<\/jats:title>\n                    <jats:p>The trachealis muscle was absent in all of five patients with CTRD. Exome analysis identified six de novo, three recessive, and multiple compound-heterozygous or rare hemizygous variants in children with CTRD. De novo variants were identified in SHH (Sonic Hedgehog), and inherited variants were identified in HSPG2 (perlecan), ROR2 (receptor tyrosine kinase\u2013like orphan receptor 2), and WLS (Wntless), genes involved in morphogenetic pathways known to mediate tracheoesophageal development in mice.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The results of the present study demonstrate that absence of the trachealis muscle is associated with CTRD. Variants predicted to cause disease were identified in genes encoding Hedgehog and Wnt signaling pathway molecules, which are critical to cartilage formation and normal upper airway development in mice.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1164\/rccm.201809-1626oc","type":"journal-article","created":{"date-parts":[[2019,6,19]],"date-time":"2019-06-19T11:38:30Z","timestamp":1560944310000},"page":"1267-1281","update-policy":"https:\/\/doi.org\/10.1164\/crossmarkpolicies","source":"Crossref","is-referenced-by-count":38,"title":["Complete Tracheal Ring Deformity. A Translational Genomics Approach to Pathogenesis"],"prefix":"10.1093","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0704-5223","authenticated-orcid":false,"given":"Debora I.","family":"Sinner","sequence":"first","affiliation":[{"name":"Division of Neonatology"},{"name":"Division of Pulmonary Biology"},{"name":"Department of Pediatrics and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brenna","family":"Carey","sequence":"additional","affiliation":[{"name":"Translational Pulmonary Science Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Zgherea","sequence":"additional","affiliation":[{"name":"Division of Pulmonary Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. M.","family":"Kaufman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and"},{"name":"Center for Autoimmune Genomics and Etiology, and"},{"name":"U.S. Department of Veterans Affairs Medical Center, Cincinnati, Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Leesman","sequence":"additional","affiliation":[{"name":"Division of Neonatology"},{"name":"Division of Pulmonary Biology"},{"name":"Department of Pediatrics and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert E.","family":"Wood","sequence":"additional","affiliation":[{"name":"Division of Pulmonary Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Rutter","sequence":"additional","affiliation":[{"name":"Division of Ear Nose and Throat Surgery, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"de Alarcon","sequence":"additional","affiliation":[{"name":"Division of Ear Nose and Throat Surgery, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ravindhra G.","family":"Elluru","sequence":"additional","affiliation":[{"name":"Division of Ear Nose and Throat Surgery, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John B.","family":"Harley","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and"},{"name":"Center for Autoimmune Genomics and Etiology, and"},{"name":"U.S. Department of Veterans Affairs Medical Center, Cincinnati, Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey A.","family":"Whitsett","sequence":"additional","affiliation":[{"name":"Division of Neonatology"},{"name":"Division of Pulmonary Biology"},{"name":"Department of Pediatrics 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