{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T08:58:09Z","timestamp":1790499489119,"version":"4.1.0"},"reference-count":33,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T00:00:00Z","timestamp":1593561600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100013223","name":"PTC Therapeutics","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013223","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000897","name":"Cystic Fibrosis Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000897","id-type":"DOI","asserted-by":"publisher"}]},{"name":"US Food and Drug Administration's Office"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","cysticfibrosisjournal.com","clinicalkey.es","clinicalkey.fr","clinicalkey.com.au","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Cystic Fibrosis"],"published-print":{"date-parts":[[2020,7]]},"DOI":"10.1016\/j.jcf.2020.01.007","type":"journal-article","created":{"date-parts":[[2020,1,23]],"date-time":"2020-01-23T23:20:13Z","timestamp":1579821613000},"page":"595-601","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":65,"title":["Efficacy and safety of ataluren in patients with nonsense-mutation cystic fibrosis not receiving chronic inhaled aminoglycosides: The international, randomized, double-blind, placebo-controlled Ataluren Confirmatory Trial in Cystic Fibrosis (ACT CF)"],"prefix":"10.1016","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0557-7277","authenticated-orcid":false,"given":"M.W.","family":"Konstan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5727-8164","authenticated-orcid":false,"given":"D.R.","family":"VanDevanter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.M.","family":"Rowe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Wilschanski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Kerem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Sermet-Gaudelus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"DiMango","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Melotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"McIntosh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"De Boeck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jcf.2020.01.007_bib0001","unstructured":"http:\/\/www.genet.sickkids.on.ca\/StatisticsPage.html."},{"key":"10.1016\/j.jcf.2020.01.007_bib0002","unstructured":"https:\/\/www.ecfs.eu\/projects\/efcs-patient-registry\/guidelines."},{"key":"10.1016\/j.jcf.2020.01.007_bib0003","series-title":"2017 annual data report to the center directors","year":"2018"},{"issue":"1","key":"10.1016\/j.jcf.2020.01.007_bib0004","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"},{"issue":"18","key":"10.1016\/j.jcf.2020.01.007_bib0005","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1056\/NEJM199310283291804","article-title":"Correlation between genotype and phenotype in patients with cystic fibrosis","volume":"329","year":"1993","journal-title":"N Engl J Med"},{"issue":"6","key":"10.1016\/j.jcf.2020.01.007_bib0006","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1002\/(SICI)1099-0496(199612)22:6<387::AID-PPUL7>3.0.CO;2-G","article-title":"Genotype-phenotype correlations in cystic fibrosis","volume":"22","author":"Kerem","year":"1996","journal-title":"Pediatr Pulmonol"},{"issue":"7","key":"10.1016\/j.jcf.2020.01.007_bib0007","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1136\/thx.2004.031153","article-title":"Genotype-phenotype correlation for pulmonary function in cystic fibrosis","volume":"60","author":"de Gracia","year":"2005","journal-title":"Thorax"},{"issue":"5","key":"10.1016\/j.jcf.2020.01.007_bib0008","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"},{"key":"10.1016\/j.jcf.2020.01.007_bib0009","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1146\/annurev-med-120611-144851","article-title":"Ataluren as an agent for therapeutic nonsense suppression","volume":"64","author":"Peltz","year":"2013","journal-title":"Annu Rev Med"},{"issue":"7140","key":"10.1016\/j.jcf.2020.01.007_bib0010","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/nature05756","article-title":"PTC124 targets genetic disorders caused by nonsense mutations","volume":"447","author":"Welch","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.jcf.2020.01.007_bib0011","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1186\/1750-1172-7-58","article-title":"Rescue of nonsense mutations by amlexanox in human cells","volume":"7","author":"Gonzalez-Hilarion","year":"2012","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"10.1016\/j.jcf.2020.01.007_bib0012","doi-asserted-by":"crossref","first-page":"2064","DOI":"10.1073\/pnas.0711795105","article-title":"PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model","volume":"105","author":"Du","year":"2008","journal-title":"Proc Natl Acad Sci USA"},{"issue":"10","key":"10.1016\/j.jcf.2020.01.007_bib0013","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1164\/rccm.201001-0137OC","article-title":"Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis","volume":"182","author":"Sermet-Gaudelus","year":"2010","journal-title":"Am J Respir Crit Care Med"},{"issue":"7","key":"10.1016\/j.jcf.2020.01.007_bib0014","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":"Suppl","key":"10.1016\/j.jcf.2020.01.007_bib0015","doi-asserted-by":"crossref","first-page":"S3","DOI":"10.1093\/infdis\/134.Supplement_1.S3","article-title":"Tobramycin: an overview","volume":"134","author":"Neu","year":"1976","journal-title":"J Infect Dis"},{"issue":"51","key":"10.1016\/j.jcf.2020.01.007_bib0016","doi-asserted-by":"crossref","first-page":"E10899","DOI":"10.1073\/pnas.1715501114","article-title":"Aminoglycoside interactions and impacts on the eukaryotic ribosome","volume":"114","author":"Prokhorova","year":"2017","journal-title":"Proc Natl Acad Sci USA"},{"issue":"44","key":"10.1016\/j.jcf.2020.01.007_bib0017","doi-asserted-by":"crossref","first-page":"12508","DOI":"10.1073\/pnas.1605336113","article-title":"Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression","volume":"113","author":"Roy","year":"2016","journal-title":"Proc Natl Acad Sci USA"},{"issue":"1","key":"10.1016\/j.jcf.2020.01.007_bib0018","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1164\/ajrccm.159.1.9712108","article-title":"Spirometric reference values from a sample of the general U.S. population","volume":"159","author":"Hankinson","year":"1999","journal-title":"Am J Respir Crit Care Med"},{"issue":"2","key":"10.1016\/j.jcf.2020.01.007_bib0019","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1183\/09031936.05.00034805","article-title":"Standardisation of spirometry","volume":"26","author":"Miller","year":"2005","journal-title":"Eur Respir J."},{"issue":"4","key":"10.1016\/j.jcf.2020.01.007_bib0020","doi-asserted-by":"crossref","first-page":"2347","DOI":"10.1378\/chest.128.4.2347","article-title":"Development and validation of the cystic fibrosis questionnaire in the United States: a health-related quality-of-life measure for cystic fibrosis","volume":"128","author":"Quittner","year":"2005","journal-title":"Chest"},{"issue":"10","key":"10.1016\/j.jcf.2020.01.007_bib0021","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1056\/NEJM199409083311003","article-title":"Effect of aerosolized recombinant human DNase on exacerbations of respiratory symptoms and on pulmonary function in patients with cystic fibrosis. The Pulmozyme Study Group","volume":"331","author":"Fuchs","year":"1994","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jcf.2020.01.007_bib0022","series-title":"Statistical analysis of medical data using SAS","author":"Der","year":"2006"},{"key":"10.1016\/j.jcf.2020.01.007_bib0023","unstructured":"http:\/\/ir.ptcbio.com\/news-releases\/news-release-details\/ptc-therapeutics-announces-results-pivotal-phase-3-clinical."},{"key":"10.1016\/j.jcf.2020.01.007_bib0024","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1093\/hmg\/8.10.1893","article-title":"Nonsense-mediated mRNA decay in health and disease","volume":"8","author":"Frischmeyer","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jcf.2020.01.007_bib0025","first-page":"453","article-title":"When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells","volume":"1","author":"Maquat","year":"1995","journal-title":"RNA"},{"key":"10.1016\/j.jcf.2020.01.007_bib0026","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"},{"key":"10.1016\/j.jcf.2020.01.007_bib0027","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1165\/rcmb.2018-0316OC","article-title":"Nonsense-mediated RNA decay pathway inhibition restores expression and function of W1282X CFTR","volume":"61","author":"Keenan","year":"2019","journal-title":"Am J Respir Cell Mol Biol"},{"key":"10.1016\/j.jcf.2020.01.007_bib0028","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1126\/science.1209038","article-title":"The unfolded protein response: from stress pathway to homeostatic regulation","volume":"334","author":"Walter","year":"2011","journal-title":"Science"},{"key":"10.1016\/j.jcf.2020.01.007_bib0029","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1165\/rcmb.2018-0316OC","article-title":"Nonsense-mediated RNA decay pathway inhibition restores expression and function of W1282X CFTR","volume":"61","author":"Keenan","year":"2019","journal-title":"Am J Respir Cell Mol Biol"},{"key":"10.1016\/j.jcf.2020.01.007_bib0030","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1002\/emmm.201303347","article-title":"The unfolded protein response affects readthrough of premature termination codons","volume":"6","author":"Oren","year":"2014","journal-title":"EMBO Mol Med"},{"key":"10.1016\/j.jcf.2020.01.007_bib0031","article-title":"Positional effects of premature termination codons on the biochemical and biophysical properties of CFTR","author":"Yeh","year":"2019","journal-title":"J Physiol"},{"issue":"16","key":"10.1016\/j.jcf.2020.01.007_bib0032","doi-asserted-by":"crossref","first-page":"3116","DOI":"10.1093\/hmg\/ddx196","article-title":"Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences","volume":"26","author":"Xue","year":"2017","journal-title":"Hum Mol Genet"},{"issue":"9","key":"10.1016\/j.jcf.2020.01.007_bib0033","doi-asserted-by":"crossref","first-page":"3585","DOI":"10.1073\/pnas.0813345106","article-title":"Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression","volume":"106","author":"Auld","year":"2009","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["Journal of Cystic Fibrosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1569199320300308?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1569199320300308?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,6,24]],"date-time":"2020-06-24T21:13:21Z","timestamp":1593033201000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1569199320300308"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7]]},"references-count":33,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["S1569199320300308"],"URL":"https:\/\/doi.org\/10.1016\/j.jcf.2020.01.007","relation":{},"ISSN":["1569-1993"],"issn-type":[{"value":"1569-1993","type":"print"}],"subject":[],"published":{"date-parts":[[2020,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Efficacy and safety of ataluren in patients with nonsense-mutation cystic fibrosis not receiving chronic inhaled aminoglycosides: The international, randomized, double-blind, placebo-controlled Ataluren Confirmatory Trial in Cystic Fibrosis (ACT CF)","name":"articletitle","label":"Article Title"},{"value":"Journal of Cystic Fibrosis","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jcf.2020.01.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}