{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T23:02:49Z","timestamp":1790722969436,"version":"4.1.0"},"reference-count":94,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2023,6,26]],"date-time":"2023-06-26T00:00:00Z","timestamp":1687737600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Vaincre la Mucoviscidose grant number","award":["RF20210502832"],"award-info":[{"award-number":["RF20210502832"]}]},{"name":"Association Ga\u00e9tan Sale\u00fcn","award":["RF20210502832"],"award-info":[{"award-number":["RF20210502832"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>More than 2000 variations are described within the CFTR (Cystic Fibrosis Transmembrane Regulator) gene and related to large clinical issues from cystic fibrosis to mono-organ diseases. Although these CFTR-associated diseases have been well documented, a large phenotype spectrum is observed and correlations between phenotypes and genotypes are still not well established. To address this issue, we present several regulatory elements that can modulate CFTR gene expression in a tissue-specific manner. Among them, cis-regulatory elements act through chromatin loopings and take part in three-dimensional structured organization. With tissue-specific transcription factors, they form chromatin modules and can regulate gene expression. Alterations of specific regulations can impact and modulate disease expressions. Understanding all those mechanisms highlights the need to expand research outside the gene to enhance our knowledge.<\/jats:p>","DOI":"10.3390\/ijms241310678","type":"journal-article","created":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T01:42:02Z","timestamp":1687830122000},"page":"10678","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Tissue-Specific Regulation of CFTR Gene Expression"],"prefix":"10.3390","volume":"24","author":[{"given":"Clara","family":"Blotas","sequence":"first","affiliation":[{"name":"Univ Brest, Inserm, EFS, UMR 1078, GGB, F-29200 Brest, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2325-0710","authenticated-orcid":false,"given":"Claude","family":"F\u00e9rec","sequence":"additional","affiliation":[{"name":"Univ Brest, Inserm, EFS, UMR 1078, GGB, F-29200 Brest, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Moisan","sequence":"additional","affiliation":[{"name":"Univ Brest, Inserm, EFS, UMR 1078, GGB, F-29200 Brest, France"},{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et d\u2019Histocompatibilit\u00e9, CHU Brest, F-29200 Brest, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1001\/archpedi.1938.01980140114013","article-title":"Cystic Fibrosis of the Pancreas and Its Relation to Celiac Disease: A Clinical and Pathologic Study","volume":"56","author":"Andersen","year":"1938","journal-title":"Am. 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