{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T15:25:35Z","timestamp":1793287535138,"version":"4.5.0"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,5,19]],"date-time":"2014-05-19T00:00:00Z","timestamp":1400457600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1RO1 HL101975; R01 HL082747; K08 HL105891"],"award-info":[{"award-number":["1RO1 HL101975; R01 HL082747; K08 HL105891"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Organization for Rare Diseases"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Position effects due to disruption of distant\n                      <jats:italic>cis<\/jats:italic>\n                      \u2010regulatory regions have been reported for over 40 human gene loci; however, the underlying mechanisms of long\u2010range gene regulation remain largely unknown. We report on two patients with alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) caused by overlapping genomic deletions that included a distant\n                      <jats:italic>FOXF1<\/jats:italic>\n                      transcriptional enhancer mapping 0.3\u2009Mb upstream to\n                      <jats:italic>FOXF1<\/jats:italic>\n                      on 16q24.1. In one patient with atypical late\u2010onset ACDMPV, a \u223c1.5\u2009Mb deletion removed the proximal 43% of this enhancer, leaving the lung\u2010specific long non\u2010coding RNA (lncRNA) gene\n                      <jats:italic>LINC01081<\/jats:italic>\n                      intact. In the second patient with severe neonatal\u2010onset ACDMPV, an overlapping \u223c194\u2009kb deletion disrupted\n                      <jats:italic>LINC01081<\/jats:italic>\n                      . Both deletions arose de novo on maternal copy of the chromosome 16, supporting the notion that\n                      <jats:italic>FOXF1<\/jats:italic>\n                      is paternally imprinted in the human lungs. RNAi\u2010mediated knock\u2010down of\n                      <jats:italic>LINC01081<\/jats:italic>\n                      in normal fetal lung fibroblasts showed that this lncRNA positively regulates\n                      <jats:italic>FOXF1<\/jats:italic>\n                      transcript level, further indicating that decrease in\n                      <jats:italic>LINC01081<\/jats:italic>\n                      expression can contribute to development of ACDMPV. \u00a9 2014 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36606","type":"journal-article","created":{"date-parts":[[2014,5,19]],"date-time":"2014-05-19T16:19:00Z","timestamp":1400516340000},"page":"2013-2019","source":"Crossref","is-referenced-by-count":53,"title":["Two deletions overlapping a distant\n                    <i>FOXF1<\/i>\n                    enhancer unravel the role of lncRNA\n                    <i>LINC01081<\/i>\n                    in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins"],"prefix":"10.1002","volume":"164","author":[{"given":"Przemyslaw","family":"Szafranski","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avinash V.","family":"Dharmadhikari","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"},{"name":"Interdepartmental Program in Translational Biology and Molecular Medicine Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer A.","family":"Wambach","sequence":"additional","affiliation":[{"name":"Edward Mallinckrodt Department of Pediatrics Washington University School of Medicine St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris T.","family":"Towe","sequence":"additional","affiliation":[{"name":"Edward Mallinckrodt Department of Pediatrics Washington University School of Medicine St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances V.","family":"White","sequence":"additional","affiliation":[{"name":"Department of Pathology and Immunology Washington University School of Medicine St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Mark","family":"Grady","sequence":"additional","affiliation":[{"name":"Edward Mallinckrodt Department of Pediatrics Washington University School of Medicine St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pirooz","family":"Eghtesady","sequence":"additional","affiliation":[{"name":"Department of Surgery Washington University School of Medicine St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. Sessions","family":"Cole","sequence":"additional","affiliation":[{"name":"Edward Mallinckrodt Department of Pediatrics Washington University School of Medicine St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail","family":"Deutsch","sequence":"additional","affiliation":[{"name":"Department of Pathology Seattle Children's Hospital Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Partha","family":"Sen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics\u2014Newborn Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawe\u0142","family":"Stankiewicz","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"},{"name":"Interdepartmental Program in Translational Biology and Molecular Medicine Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,5,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00003246-199304000-00026"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/PCC.0b013e31818e383e"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201010-1697CI"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2593"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0904715106"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513819109064753"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.11.037"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-003-1385-6"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.09.001"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35832"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.06.081"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22313"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.171"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.PCC.0000202570.58016.67"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.05.005"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22395"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.141887.112"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1192002"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2013.10.002"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36606","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36606","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T01:31:03Z","timestamp":1696555863000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36606"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,19]]},"references-count":19,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1002\/ajmg.a.36606"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36606","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5,19]]}}}