{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T16:59:31Z","timestamp":1762102771039,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"23","license":[{"start":{"date-parts":[[2022,11,11]],"date-time":"2022-11-11T00:00:00Z","timestamp":1668124800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","award":["001"],"award-info":[{"award-number":["001"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This short report documented cystic fibrosis transmembrane conductance regulator (<jats:italic>CFTR<\/jats:italic>) variants in 37 patients with cystic fibrosis (CF) in the Rio Grande do Norte region of Northeast Brazil. The high\u2010throughput sequencing technology (HTS) genetic testing provided a definitive molecular diagnosis in 31 patients (83.8%). Among them, 25 patients' carriers of the <jats:italic>c.1521_1523delCTT<\/jats:italic> variant, categorized as a class 2 mutation, can be currently treated with CFTR modulator drugs. Five children aged 2\u20135\u2009years could benefit from double lumacaftor\/ivacaftor therapy, and 20 patients aged &gt;6\u2009years could be treated with the triple\u2010combination elexacaftor\/tezacaftor\/ivacaftor therapy. Thus, the identification of pathogenic variants associated with the development of this disease allows for the introduction of therapy with CFTR modulators that favour better patient management.<\/jats:p>","DOI":"10.1111\/jcmm.17605","type":"journal-article","created":{"date-parts":[[2022,11,12]],"date-time":"2022-11-12T06:39:43Z","timestamp":1668235183000},"page":"5943-5947","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Screening by high\u2010throughput sequencing for pathogenic variants in cystic fibrosis: Benefit of introducing personalized therapies"],"prefix":"10.1111","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0944-1529","authenticated-orcid":false,"given":"Ana Cristina Vieira","family":"de Melo","sequence":"first","affiliation":[{"name":"Department of Pediatrics Federal University of Rio Grande do Norte  Natal Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8541-1444","authenticated-orcid":false,"given":"Karla Simone Costa","family":"de Souza","sequence":"additional","affiliation":[{"name":"Department of Clinical and Toxicological Analysis Federal University of Rio Grande do Norte  Natal Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heglayne Pereira Vital","family":"da Silva","sequence":"additional","affiliation":[{"name":"Department of Clinical and Toxicological Analysis Federal University of Rio Grande do Norte  Natal Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jussara Melo de Cerqueira","family":"Maia","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Federal University of Rio Grande do Norte  Natal Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vera Maria","family":"Dantas","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Federal University of Rio Grande do Norte  Natal Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9978-628X","authenticated-orcid":false,"given":"Jo\u00e3o Felipe","family":"Bezerra","sequence":"additional","affiliation":[{"name":"Technical Health School Federal University of Paraiba  Joao Pessoa Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2452-4047","authenticated-orcid":false,"given":"Adriana Augusto","family":"de Rezende","sequence":"additional","affiliation":[{"name":"Department of Clinical and Toxicological Analysis Federal University of Rio Grande do Norte  Natal Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,11,11]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-42404-6"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2020.08.007"},{"key":"e_1_2_10_4_1","unstructured":"Clinical and Functional Translation of CFTR. 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