{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T20:25:03Z","timestamp":1792959903280,"version":"4.5.0"},"reference-count":56,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Vertex Pharmaceuticals Research Innovation Award"},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["DK044003"],"award-info":[{"award-number":["DK044003"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Spruance Foundation"},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["T32GM148383"],"award-info":[{"award-number":["T32GM148383"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000897","name":"Cystic Fibrosis Foundation","doi-asserted-by":"publisher","award":["PEDEMO20G0"],"award-info":[{"award-number":["PEDEMO20G0"]}],"id":[{"id":"10.13039\/100000897","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Vertex Pharmaceuticals Research Innovation Award"},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["DK044003"],"award-info":[{"award-number":["DK044003"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Spruance Foundation"},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["T32GM148383"],"award-info":[{"award-number":["T32GM148383"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"Cystic Fibrosis Foundation","doi-asserted-by":"publisher","award":["PEDEMO20G0"],"award-info":[{"award-number":["PEDEMO20G0"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.atsjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We broaden the clinical versatility of human nasal epithelial (HNE) cells. HNEs were isolated from 10 participants harboring cystic fibrosis transmembrane conductance regulator (CFTR) variants: 9 with rare variants (Q359R [n\u2009=\u20092], G480S, R334W [n\u2009=\u20095], and R560T) and 1 harboring R117H;7T;TG10\/5T;TG12. Cultures were differentiated at the air\u2013liquid interface. CFTR function was measured in Ussing chambers at three conditions: baseline, ivacaftor, and elexacaftor\u2009+\u2009tezacaftor\u2009+\u2009ivacaftor (ETI). Four participants initiated modulators. Q359R HNEs had 5.4% (% wild-type) baseline CFTR function and 25.5% with ivacaftor. With therapy, sweat [Cl\u2212] decreased and symptoms resolved. G480S HNEs had 4.1% baseline and 32.1% CFTR function with ETI. Clinically, forced expiratory volume in 1 second increased and sweat [Cl\u2212] decreased (119 to 46 mmol\/L) with ETI. In vitro cultures derived from 5 participants harboring R334W showed a moderate increase in CFTR function with exposure to modulators. For one of these participants, ETI was begun in vivo; symptoms and forced expiratory volume in 1 second improved. The c.1679G&amp;gt;C (R560T) HNEs had less than 4% baseline CFTR function and no modulator response. RNA analysis confirmed that c.1679G&amp;gt;C completely missplices. A symptomatic patient harboring R117H;7T;TG10\/5T;TG12 exhibited reduced CFTR function (17.5%) in HNEs, facilitating a diagnosis of mild CF. HNEs responded to modulators (ivacaftor: 32.8%, ETI: 55.5%), and, since beginning therapy, lung function improved. We reaffirm HNE use for guiding therapeutic approaches, inform predictions on modulator response (e.g., R334W), and closely assess variants that affect splicing (e.g., c.1679G&amp;gt;C). Notably, functional studies in HNEs harboring R117H;7T;TG10\/5T;TG12 facilitated a diagnosis of mild CF, suggesting the use for HNE functional studies as a clinical diagnostic test.<\/jats:p>","DOI":"10.1165\/rcmb.2023-0398oc","type":"journal-article","created":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T12:57:05Z","timestamp":1721134625000},"page":"577-588","update-policy":"https:\/\/doi.org\/10.1164\/crossmarkpolicies","source":"Crossref","is-referenced-by-count":10,"title":["Investigation of CFTR Function in Human Nasal Epithelial Cells Informs Personalized Medicine"],"prefix":"10.1093","volume":"71","author":[{"given":"Audrey","family":"Pion","sequence":"first","affiliation":[{"name":"Department of Genetic Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"Kavanagh","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anya 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Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brooke","family":"Moore","sequence":"additional","affiliation":[{"name":"Children\u2019s Respiratory and Critical Care Specialists, Minneapolis, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shivani","family":"Patel","sequence":"additional","affiliation":[{"name":"Division of Pulmonary and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Merlo","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renee","family":"Temme","sequence":"additional","affiliation":[{"name":"Genetics Department, Children\u2019s Minnesota, Minneapolis, 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