{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T10:31:05Z","timestamp":1740133865445,"version":"3.37.3"},"reference-count":22,"publisher":"BMJ","issue":"6","funder":[{"DOI":"10.13039\/100000050","name":"NIH\/National Heart, Lung and Blood Institute","doi-asserted-by":"publisher","award":["U01 HL134745"],"award-info":[{"award-number":["U01 HL134745"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"NIH\/National Heart, Lung and Blood Institute","doi-asserted-by":"publisher","award":["R01 HL149853"],"award-info":[{"award-number":["R01 HL149853"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009340","name":"Children\u2019s Discovery Institute","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100009340","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Thorax"],"accepted":{"date-parts":[[2023,2,7]]},"published-print":{"date-parts":[[2023,6]]},"DOI":"10.1136\/thorax-2022-219972","type":"journal-article","created":{"date-parts":[[2023,3,16]],"date-time":"2023-03-16T10:25:58Z","timestamp":1678962358000},"page":"533-534","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["ATP binding cassette member A3 (ABCA3): coming of age"],"prefix":"10.1136","volume":"78","author":[{"given":"Alicia","family":"Casey","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0540-8083","authenticated-orcid":false,"given":"Lawrence","family":"Nogee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Wambach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,3,2]]},"reference":[{"key":"2024051320424802000_78.6.533.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa032178"},{"key":"2024051320424802000_78.6.533.2","doi-asserted-by":"publisher","DOI":"10.1136\/thx.2007.083766"},{"key":"2024051320424802000_78.6.533.3","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201402-0342OC"},{"key":"2024051320424802000_78.6.533.4","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1097\/MCP.0000000000000680","article-title":"ABCA3 mutations in adult pulmonary fibrosis patients: a case series and review of literature","volume":"26","author":"Klay","year":"2020","journal-title":"Curr Opin Pulm Med"},{"key":"2024051320424802000_78.6.533.5","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2016-208649"},{"key":"2024051320424802000_78.6.533.6","doi-asserted-by":"publisher","DOI":"10.1136\/thorax-2022-219434"},{"key":"2024051320424802000_78.6.533.7","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1165\/rcmb.2016-0008OC","article-title":"Functional characterization of ATP-binding cassette transporter A3 mutations from infants with respiratory distress syndrome","volume":"55","author":"Wambach","year":"2016","journal-title":"Am J Respir Cell Mol Biol"},{"key":"2024051320424802000_78.6.533.8","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1165\/rcmb.2020-0034MA","article-title":"Functional genomics of ABCA3 variants","volume":"63","author":"Wambach","year":"2020","journal-title":"Am J Respir Cell Mol Biol"},{"key":"2024051320424802000_78.6.533.9","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.1002\/humu.24014","article-title":"Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variants","volume":"41","author":"Hu","year":"2020","journal-title":"Hum Mutat"},{"key":"2024051320424802000_78.6.533.10","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1002\/ppul.25862","article-title":"Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency","volume":"57","author":"Xu","year":"2022","journal-title":"Pediatr Pulmonol"},{"key":"2024051320424802000_78.6.533.11","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20901"},{"key":"2024051320424802000_78.6.533.12","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1038\/ejhg.2017.36","article-title":"Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype","volume":"25","author":"Delestrain","year":"2017","journal-title":"Eur J Hum Genet"},{"key":"2024051320424802000_78.6.533.13","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"2024051320424802000_78.6.533.14","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-0918"},{"key":"2024051320424802000_78.6.533.15","doi-asserted-by":"crossref","first-page":"2676","DOI":"10.1002\/ajmg.a.36660","article-title":"Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks)","volume":"164A","author":"Naderi","year":"2014","journal-title":"Am J Med Genet A"},{"key":"2024051320424802000_78.6.533.16","doi-asserted-by":"crossref","first-page":"183","DOI":"10.2119\/molmed.2015.00244","article-title":"Increased risk of interstitial lung disease in children with a single R288K variant of ABCA3","volume":"22","author":"Wittmann","year":"2016","journal-title":"Mol Med"},{"key":"2024051320424802000_78.6.533.17","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1186\/s13023-022-02399-2","article-title":"Randomized controlled phase 2 trial of hydroxychloroquine in childhood interstitial lung disease","volume":"17","author":"Griese","year":"2022","journal-title":"Orphanet J Rare Dis"},{"key":"2024051320424802000_78.6.533.18","doi-asserted-by":"crossref","DOI":"10.1186\/s13063-020-4188-4","article-title":"Prospective evaluation of hydroxychloroquine in pediatric interstitial lung diseases: study protocol for an investigator-initiated, randomized controlled, parallel-group clinical trial","volume":"21","author":"Griese","year":"2020","journal-title":"Trials"},{"key":"2024051320424802000_78.6.533.19","doi-asserted-by":"crossref","unstructured":"Deterding R , Young LR , Deboer EM , et al . Nintedanib in children and adolescents with fibrosing interstitial lung diseases. Eur Respir J 2022. doi:10.1183\/13993003.01512-2022","DOI":"10.1183\/13993003.01512-2022"},{"key":"2024051320424802000_78.6.533.20","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1093\/hmg\/ddy011","article-title":"Functional rescue of misfolding ABCA3 mutations by small molecular correctors","volume":"27","author":"Kinting","year":"2018","journal-title":"Hum Mol Genet"},{"key":"2024051320424802000_78.6.533.21","doi-asserted-by":"crossref","first-page":"5225","DOI":"10.1111\/jcmm.14397","article-title":"Potentiation of ABCA3 lipid transport function by ivacaftor and genistein","volume":"23","author":"Kinting","year":"2019","journal-title":"J Cell Mol Med"},{"key":"2024051320424802000_78.6.533.22","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1165\/rcmb.2021-0223OC","article-title":"High-content screening identifies cyclosporin A as a novel ABCA3-specific molecular corrector","volume":"66","author":"Forstner","year":"2022","journal-title":"Am J Respir Cell Mol Biol"}],"container-title":["Thorax"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/thorax-2022-219972","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,14]],"date-time":"2024-05-14T03:57:21Z","timestamp":1715659041000},"score":1,"resource":{"primary":{"URL":"https:\/\/thorax.bmj.com\/lookup\/doi\/10.1136\/thorax-2022-219972"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,2]]},"references-count":22,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2023,5,16]]},"published-print":{"date-parts":[[2023,6]]}},"alternative-id":["10.1136\/thorax-2022-219972"],"URL":"https:\/\/doi.org\/10.1136\/thorax-2022-219972","relation":{},"ISSN":["0040-6376","1468-3296"],"issn-type":[{"type":"print","value":"0040-6376"},{"type":"electronic","value":"1468-3296"}],"subject":[],"published":{"date-parts":[[2023,3,2]]}}}