Cystic Fibrosis
Abstract
This review of the genetics and molecular mechanisms of cystic fibrosis emphasizes recent progress and recounts the historical background that made these new advances possible.
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The Phe508del CFTR mutation causes defective intracellular processing and trafficking and decreased stability, drastically reducing the quantity of CFTR protein at the apical surface of epithelial cells.
“The Phe508del CFTR mutation causes defective intracellular processing and trafficking and decreased stability, which drastically reduces the quantity of CFTR protein at the apical surface of epithelial cells.4,7,8”
From Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele (2019) · cites this paper as [4]
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Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele
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Roy, M. G., Livraghi-Butrico, A., Fletcher, A. A., McElwee, M. M., Evans, S. E., Boerner, R. M., Alexander, S. N., Bellinghausen, L. K., Song, A. S., Petrova, Y. M., et al. (2014) · Nature · doi:10.1038/nature12807 · Cited by 764 · see citing works
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Genetic and other Determinants of Sweat Sodium
Eichner, E. R. (2008) · Current Sports Medicine Reports · doi:10.1249/jsr.0b013e31817f3b35 · Cited by 30 · see citing works
Träger, J., Melichar, V. O., Meyer, R., Rauh, M., Bogdan, C., & Held, J. (2018) · BMC Pulmonary Medicine · doi:10.1186/s12890-018-0614-8 · Cited by 7 · see citing works
- Authors
- Rowe, S. M., Miller, S., & Sorscher, E. J.
- Affiliations
- University of Alabama at Birmingham (US)
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2005-05-12
- Volume
- 352
- Issue
- 19
- Pages
- 1992-2001
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W4241884576
- Cited by
- 1,398
- References
- 0
- Citations by year
- 2026: 33 · 2025: 38 · 2024: 46 · 2023: 68 · 2022: 51 · 2021: 84 · 2020: 76 · 2019: 85 · 2018: 84 · 2017: 75 · 2016: 92 · 2015: 102 · 2014: 95 · 2013: 107 · 2012: 70
- FWCI
- 33.67
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion Transport and Channel Regulation
- Keywords
- cystic fibrosis, molecular mechanisms
- MeSH terms
- Absorption, Body Fluids, Cystic Fibrosis, Humans, Mutation, Sodium Chloride, Sweat, Sweat Glands, Cystic Fibrosis Transmembrane Conductance Regulator, Respiratory Mucosa
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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