{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T04:00:53Z","timestamp":1791000053599,"version":"4.1.0"},"reference-count":91,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,7,20]],"date-time":"2024-07-20T00:00:00Z","timestamp":1721433600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["ARM"],"abstract":"<jats:p>A common life-threatening hereditary disease, Cystic Fibrosis (CF), affects primarily Caucasian infants. High sweat-salt levels are observed as a result of a single autosomal mutation in chromosome 7 that affects the critical function of the cystic fibrosis transmembrane regulator (CFTR). For establishing tailored treatment strategies, it is important to understand the broad range of CFTR mutations and their impacts on disease pathophysiology. This study thoroughly investigates the six main classes of classification of CFTR mutations based on their functional effects. Each class is distinguished by distinct molecular flaws, such as poor protein synthesis, misfolding, gating defects, conduction defects, and decreased CFTR expression at the apical membrane. Furthermore, this paper focuses on the emerging field of CFTR modulators, which intend to restore CFTR function or mitigate its consequences. These modulators, which are characterized by the mode of action and targeted mutation class, have the potential to provide personalized therapy regimens in CF patients. This review provides valuable insights into the genetic basis of CF pathology, and highlights the potential for precision medicine methods in CF therapy by thoroughly investigating CFTR mutation classification and related modulators.<\/jats:p>","DOI":"10.3390\/arm92040026","type":"journal-article","created":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T11:43:44Z","timestamp":1721907824000},"page":"263-277","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Cystic Fibrosis: Understanding Cystic Fibrosis Transmembrane Regulator Mutation Classification and Modulator Therapies"],"prefix":"10.3390","volume":"92","author":[{"given":"Saba","family":"Anwar","sequence":"first","affiliation":[{"name":"Centre for Applied Molecular Biology, University of the Punjab Lahore, Lahore 53700, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0403-270X","authenticated-orcid":false,"given":"Jin-Liang","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Emergency, The Affiliated Ganzhou Hospital of Nanchang University, Ganzhou 341000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kashif Rafiq","family":"Zahid","sequence":"additional","affiliation":[{"name":"Department of Radiation Oncology, Melvin and Bren Simon Comprehensive Cancer Center, Indiana University School of Medicine, Indianaapolis, IN 46202, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Ming","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Emergency, The Affiliated Ganzhou Hospital of Nanchang University, Ganzhou 341000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3160-4830","authenticated-orcid":false,"given":"Qurban","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Plant Breeding and Genetics, Faculty of Agricultural Sciences, University of the Punjab, Lahore 54590, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chong-Rong","family":"Qiu","sequence":"additional","affiliation":[{"name":"Department of Emergency, The Affiliated Ganzhou Hospital of Nanchang University, Ganzhou 341000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,7,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1373\/clinchem.2010.159285","article-title":"Cystic fibrosis carrier testing in an ethnically diverse US population","volume":"57","author":"Rohlfs","year":"2011","journal-title":"Clin. 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