{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T02:53:44Z","timestamp":1768013624638,"version":"3.49.0"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,1,14]],"date-time":"2014-01-14T00:00:00Z","timestamp":1389657600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"none reported"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:label\/><jats:p>A study was undertaken to analyze the clinical presentation, pulmonary function, and pathological features in two female siblings with neonatal pulmonary surfactant metabolism dysfunction, type 3 (MIM 610921).<\/jats:p><jats:p>The clinical records of the siblings were examined; the genes encoding surfactant protein B (<jats:italic>SFTPB<\/jats:italic>), surfactant protein C (<jats:italic>SFTPC<\/jats:italic>), and ATP\u2010binding cassette transporter 3 protein (<jats:italic>ABCA3<\/jats:italic>) were analyzed with direct sequencing and Southern blotting.<\/jats:p><jats:p>The infants were homozygous for a 5,983\u2009bp deletion in <jats:italic>ABCA3<\/jats:italic> including exons 2\u20135 as well as the start AUG codon and a putative Golgi exit signal motif. Dense abnormalities of lamellar bodies at electron microscopy and absence of ABCA3 at immunohistochemical staining were in agreement with the presence of two null alleles. In addition, an increased lipid synthesis suggested a compensatory mechanism. The clinical course in the two sisters was influenced by different environmental factors like the time needed for molecular confirmation, the ventilatory assistance adopted, the occurrence of infections.<\/jats:p><jats:p>A less aggressive clinical approach did not improve the course of the disease; the prognosis was always poor. Development of a fast molecular test, able to detect also structural variants, is needed. <jats:bold>Pediatr Pulmonol. 2014; 49:E116\u2013E120.<\/jats:bold> \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.22983","type":"journal-article","created":{"date-parts":[[2014,1,14]],"date-time":"2014-01-14T09:01:08Z","timestamp":1389690068000},"source":"Crossref","is-referenced-by-count":10,"title":["Null <i>ABCA3<\/i> in humans: Large homozygous <i>ABCA3<\/i> deletion, correlation to clinical\u2013pathological findings"],"prefix":"10.1002","volume":"49","author":[{"given":"Paola","family":"Carrera","sequence":"first","affiliation":[{"name":"Unit of Genomics for Human Disease Diagnosis Centre of Translational Genomics and Bioinformatics Ospedale San Raffaele Milano Italy"},{"name":"Laboraf Diagnostica e Ricerca, Ospedale San Raffaele Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Ferrari","sequence":"additional","affiliation":[{"name":"Clinical Pathology Vita Salute San Raffaele University Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Presi","sequence":"additional","affiliation":[{"name":"Diagnostica e Ricerca San Raffaele Laboratory of Clinical Molecular Biology Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luisa","family":"Ventura","sequence":"additional","affiliation":[{"name":"Maternal\u2010Infantile Department Neonatology and Neonatal Intensive Care MBBM\u2010Foundation Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Vergani","sequence":"additional","affiliation":[{"name":"Microscopy and Image Analisys Consortium University of Milano\u2010Bicocca Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Lucchini","sequence":"additional","affiliation":[{"name":"Department of Surgical Pathology San Gerardo Hospital Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola E.","family":"Cogo","sequence":"additional","affiliation":[{"name":"Pediatric Cardiac Anesthesia\/Intensive Care Unit Department of Pediatric Cardiology and Cardiac Surgery Bambino Ges\u00f9 Children's Hospital Roma Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virgilio P.","family":"Carnielli","sequence":"additional","affiliation":[{"name":"Neonatal Division &amp; Pediatric Surgery Division Institute of Maternal\u2010Infantile Sciences Polytechnic University of Marche and University of Ancona Ancona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Somaschini","sequence":"additional","affiliation":[{"name":"Unit of Genomics for Human Disease Diagnosis Centre of Translational Genomics and Bioinformatics Ospedale San Raffaele Milano Italy"},{"name":"Laboraf Diagnostica e Ricerca, Ospedale San Raffaele Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Tagliabue","sequence":"additional","affiliation":[{"name":"Maternal\u2010Infantile Department Neonatology and Neonatal Intensive Care MBBM\u2010Foundation Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,1,14]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.siny.2005.02.004"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh252"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M703927200"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa032178"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1203\/01.pdr.0000219311.14291.df"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200503-504OC"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.med.60.041807.123500"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2007.03.008"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.01.010"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M507515200"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.M013284"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/wrna.1129"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajplung.00409.2009"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/thx.2007.083766"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2010.69"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/jms.858"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1465-9921-12-36"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fppul.22983","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fppul.22983","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.22983","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T06:52:51Z","timestamp":1696488771000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.22983"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,14]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["10.1002\/ppul.22983"],"URL":"https:\/\/doi.org\/10.1002\/ppul.22983","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,14]]}}}