{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T18:41:31Z","timestamp":1784832091042,"version":"3.55.0"},"reference-count":37,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"vor","delay-in-days":731,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000897","name":"Cystic Fibrosis Foundation","doi-asserted-by":"publisher","award":["SERMET1710"],"award-info":[{"award-number":["SERMET1710"]}],"id":[{"id":"10.13039\/100000897","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100022854","name":"European Cystic Fibrosis Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100022854","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","cysticfibrosisjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Cystic Fibrosis"],"published-print":{"date-parts":[[2023,11]]},"DOI":"10.1016\/j.jcf.2023.06.005","type":"journal-article","created":{"date-parts":[[2023,7,6]],"date-time":"2023-07-06T08:50:19Z","timestamp":1688633419000},"page":"1070-1079","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Nonsense mutations accelerate lung disease and decrease survival of cystic fibrosis children"],"prefix":"10.1016","volume":"22","author":[{"given":"Annalisa","family":"Orenti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iwona","family":"Pranke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Faucon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Varilh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurelie","family":"Hatton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Golec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clemence","family":"Dehillotte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Durieu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Reix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre-R\u00e9gis","family":"Burgel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Grenet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Tasset","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsa","family":"Gachelin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Perisson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agathe","family":"Lepissier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Dreano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Tondelier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"Chevalier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Weiss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9bastien","family":"Kiefer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muriel","family":"Laurans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raphael","family":"Chiron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lydie","family":"Lemonnier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Marguet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Jung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksander","family":"Edelman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bat-Sheva","family":"Kerem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Girodon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magali","family":"Taulan-Cadars","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Hinzpeter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eitan","family":"Kerem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lutz","family":"Naehrlich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Sermet-Gaudelus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.jcf.2023.06.005_bib0001","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/S2213-2600(19)30337-6","article-title":"The future of cystic fibrosis care: a global perspective","volume":"8","author":"Bell","year":"2020","journal-title":"Lancet Respir Med"},{"issue":"19","key":"10.1016\/j.jcf.2023.06.005_bib0002","doi-asserted-by":"crossref","first-page":"1809","DOI":"10.1056\/NEJMoa1908639","article-title":"Elexacaftor-Tezacaftor-Ivacaftor for cystic fibrosis with a single Phe508del Allele","volume":"381","author":"Middleton","year":"2019","journal-title":"N Engl J Med"},{"issue":"6","key":"10.1016\/j.jcf.2023.06.005_bib0003","doi-asserted-by":"crossref","DOI":"10.3390\/genes11060619","article-title":"Molecular diagnosis and genetic counseling of Cystic Fibrosis and related disorders: new challenges","volume":"11","author":"Bienvenu","year":"2020","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.jcf.2023.06.005_bib0004","unstructured":"http:\/\/www.cftr2.org\/."},{"issue":"4","key":"10.1016\/j.jcf.2023.06.005_bib0005","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/j.jcf.2013.12.003","article-title":"The relative frequency of CFTR mutation classes in European patients with cystic fibrosis","volume":"13","author":"De Boeck","year":"2014","journal-title":"J Cystic Fibrosis"},{"issue":"11","key":"10.1016\/j.jcf.2023.06.005_bib0006","doi-asserted-by":"crossref","first-page":"1156","DOI":"10.1038\/sj.ejhg.5201889","article-title":"The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells","volume":"15","author":"Linde","year":"2007","journal-title":"Eur J Hum Genet"},{"issue":"11","key":"10.1016\/j.jcf.2023.06.005_bib0007","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1007723","article-title":"Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis","volume":"14","author":"Sharma","year":"2018","journal-title":"PLoS Genet"},{"issue":"4","key":"10.1016\/j.jcf.2023.06.005_bib0008","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1016\/j.jmb.2006.10.086","article-title":"Domain interdependence in the biosynthetic assembly of CFTR","volume":"365","author":"Cui","year":"2007","journal-title":"J MolBiol"},{"issue":"3","key":"10.1016\/j.jcf.2023.06.005_bib0009","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1172\/JCI28523","article-title":"Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin","volume":"117","author":"Linde","year":"2007","journal-title":"J Clin Invest"},{"issue":"1","key":"10.1016\/j.jcf.2023.06.005_bib0010","first-page":"222","article-title":"Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish Cystic Fibrosis patients in Israel, with presentation of severe disease","volume":"50","author":"Shoshani","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jcf.2023.06.005_bib0011","unstructured":"Orenti A., Zolin A., Jung A., van Rens J., Fox A., Krasnyk M., Daneau G., Hatziagorou E., Mei-Zahav M., Naehrlich L., Storms V. ECFSPR Annual Report 2019. 2021.https:\/\/www.ecfs.eu\/projects\/ecfs-patient-registry\/annual-reports."},{"key":"10.1016\/j.jcf.2023.06.005_bib0012","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1186\/1750-1172-9-81","article-title":"The European Cystic Fibrosis Society Patient Registry: valuable lessons learned on how to sustain a disease registry","volume":"9","author":"Viviani","year":"2014","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"10.1016\/j.jcf.2023.06.005_bib0013","doi-asserted-by":"crossref","first-page":"1324","DOI":"10.1183\/09031936.00080312","article-title":"Multi-ethnic reference values for spirometry for the 3-95-yr age range: the global lung function 2012 equations","volume":"40","author":"Quanjer","year":"2012","journal-title":"EurRespir J"},{"issue":"246","key":"10.1016\/j.jcf.2023.06.005_bib0014","first-page":"1","article-title":"2000 CDC growth charts for the United States: methods and development","volume":"11","author":"Kuczmarski","year":"2002","journal-title":"Vital Health Stat"},{"issue":"1","key":"10.1016\/j.jcf.2023.06.005_bib0015","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/S1569-1993(02)00141-8","article-title":"Evaluation of a new definition for chronic Pseudomonas aeruginosa in cystic fibrosis patients","volume":"2","author":"Lee","year":"2003","journal-title":"J Cystic Fibrosis"},{"issue":"5","key":"10.1016\/j.jcf.2023.06.005_bib0016","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1378\/chest.130.5.1441","article-title":"CFTR genotype as a predictor of prognosis in cystic fibrosis","volume":"130","author":"McKone","year":"2006","journal-title":"Chest"},{"issue":"3","key":"10.1016\/j.jcf.2023.06.005_bib0017","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1148\/radiol.2533090418","article-title":"Cystic fibrosis genotype and assessing rates of decline in pulmonary status","volume":"253","author":"Cleveland","year":"2009","journal-title":"Radiology"},{"issue":"3","key":"10.1016\/j.jcf.2023.06.005_bib0018","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.jcf.2011.01.005","article-title":"Association between genotype and pulmonary phenotype in cystic fibrosis patients with severe mutations","volume":"10","author":"Geborek","year":"2011","journal-title":"J Cystic Fibrosis"},{"issue":"7","key":"10.1016\/j.jcf.2023.06.005_bib0019","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1016\/S2213-2600(14)70100-6","article-title":"Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial","volume":"2","author":"Kerem","year":"2014","journal-title":"Lancet Respir Med"},{"issue":"1","key":"10.1016\/j.jcf.2023.06.005_bib0020","first-page":"1","article-title":"European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations","volume":"31","author":"Koch","year":"2001","journal-title":"PediatrPulmonol"},{"issue":"1","key":"10.1016\/j.jcf.2023.06.005_bib0021","doi-asserted-by":"crossref","first-page":"19748","DOI":"10.1038\/s41598-022-24374-4","article-title":"Survival of people with cystic fibrosis in Australia","volume":"12","author":"Ruseckaite","year":"2022","journal-title":"Sci Rep"},{"issue":"4","key":"10.1016\/j.jcf.2023.06.005_bib0022","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1164\/rccm.201612-2574OC","article-title":"Phenotypes of rapid Cystic Fibrosis lung disease progression during adolescence and young adulthood","volume":"196","author":"Szczesniak","year":"2017","journal-title":"Am J Respir Crit Care Med"},{"issue":"7","key":"10.1016\/j.jcf.2023.06.005_bib0023","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1515\/jpem-2019-0484","article-title":"Cystic fibrosis-related diabetes: an update on pathophysiology, diagnosis, and treatment","volume":"33","author":"Alves","year":"2020","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"6","key":"10.1016\/j.jcf.2023.06.005_bib0024","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.02509-2017","article-title":"Risk factors for lung disease progression in children with cystic fibrosis","volume":"51","author":"van Horck","year":"2018","journal-title":"Eur Respir J"},{"key":"10.1016\/j.jcf.2023.06.005_bib0025","article-title":"Beyond borders: cystic fibrosis survival between Australia, Canada, France and New Zealand","author":"Coriati","year":"2022","journal-title":"Thorax"},{"key":"10.1016\/j.jcf.2023.06.005_bib0026","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/S2213-2600(13)70002-X","article-title":"The effect of social deprivation on clinical outcomes and the use of treatments in the UK cystic fibrosis population: a longitudinal study","volume":"1","author":"Taylor-Robinson","year":"2013","journal-title":"Lancet Resp Med"},{"key":"10.1016\/j.jcf.2023.06.005_bib0027","doi-asserted-by":"crossref","first-page":"1903","DOI":"10.1091\/mbc.e08-09-0950","article-title":"Cooperative assembly and misfolding of CFTR domains in vivo","volume":"20","author":"Du","year":"2009","journal-title":"Mol Biol Cell"},{"issue":"3","key":"10.1016\/j.jcf.2023.06.005_bib0028","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1113\/JP278418","article-title":"Positional effects of premature termination codons on the biochemical and biophysical properties of CFTR","volume":"598","author":"Yeh","year":"2020","journal-title":"J Physiol"},{"issue":"1","key":"10.1016\/j.jcf.2023.06.005_bib0029","doi-asserted-by":"crossref","DOI":"10.1183\/23120541.00080-2017","article-title":"Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons","volume":"4","author":"Pranke","year":"2018","journal-title":"ERJ Open Res"},{"issue":"1","key":"10.1016\/j.jcf.2023.06.005_bib0030","doi-asserted-by":"crossref","first-page":"17640","DOI":"10.1038\/s41598-019-54158-2","article-title":"Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants","volume":"9","author":"Phuan","year":"2019","journal-title":"Sci Rep"},{"issue":"5","key":"10.1016\/j.jcf.2023.06.005_bib0031","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<387::AID-HUMU9>3.0.CO;2-C","article-title":"Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients","volume":"10","author":"Casals","year":"1997","journal-title":"Hum Mutat"},{"issue":"11","key":"10.1016\/j.jcf.2023.06.005_bib0032","doi-asserted-by":"crossref","first-page":"1364","DOI":"10.1002\/humu.20866","article-title":"Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships","volume":"29","author":"Krasnov","year":"2008","journal-title":"Hum Mutat"},{"issue":"9","key":"10.1016\/j.jcf.2023.06.005_bib0033","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1164\/rccm.201901-0145OC","article-title":"Correlating cystic fibrosis transmembrane conductance regulator function with clinical features to inform precision treatment of cystic fibrosis","volume":"199","author":"McCague","year":"2019","journal-title":"Am J Respir Crit Care Med"},{"issue":"5","key":"10.1016\/j.jcf.2023.06.005_bib0034","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1165\/rcmb.2001-0004OC","article-title":"Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis","volume":"27","author":"Ramalho","year":"2002","journal-title":"Am J Respir Cell Mol Biol"},{"key":"10.1016\/j.jcf.2023.06.005_bib0035","doi-asserted-by":"crossref","first-page":"121","DOI":"10.3389\/fphar.2019.00121","article-title":"Emerging therapeutic approaches for cystic fibrosis. From gene editing to personalized medicine","volume":"10","author":"Pranke","year":"2019","journal-title":"Front Pharmacol"},{"issue":"10","key":"10.1016\/j.jcf.2023.06.005_bib0036","doi-asserted-by":"crossref","first-page":"2793","DOI":"10.3390\/cells10102793","article-title":"Therapeutic approaches for Ppatients with Cystic Fibrosis not eligible for current CFTR Modulators","volume":"10","author":"Fajac","year":"2021","journal-title":"Cells"},{"issue":"1","key":"10.1016\/j.jcf.2023.06.005_bib0037","doi-asserted-by":"crossref","first-page":"7375","DOI":"10.1038\/s41598-017-07504-1","article-title":"Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators","volume":"7","author":"Pranke","year":"2017","journal-title":"Sci Rep"}],"container-title":["Journal of Cystic Fibrosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1569199323008196?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1569199323008196?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T21:09:07Z","timestamp":1762031347000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1569199323008196"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11]]},"references-count":37,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["S1569199323008196"],"URL":"https:\/\/doi.org\/10.1016\/j.jcf.2023.06.005","relation":{},"ISSN":["1569-1993"],"issn-type":[{"value":"1569-1993","type":"print"}],"subject":[],"published":{"date-parts":[[2023,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Nonsense mutations accelerate lung disease and decrease survival of cystic fibrosis children","name":"articletitle","label":"Article Title"},{"value":"Journal of Cystic Fibrosis","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jcf.2023.06.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 European Cystic Fibrosis Society. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}