The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Cystic fibrosis: molecular biology and therapeutic implications
Abstract
Cystic fibrosis is the most common potentially lethal autosomal recessive disease of Caucasians, affecting 1 in 2500 newborns. Since the recent identification of the gene that is defective in patients with cystic fibrosis, a wealth of information about gene structure, the mutational basis of disease, and the function of the protein product has been derived. The product of the gene is a chloride channel that is regulated by adenosine 3',5'-monophosphate (cyclic AMP)-dependent protein kinase phosphorylation and that requires binding of adenosine triphosphate (ATP) for channel opening. Several new approaches to drug therapy for cystic fibrosis are now emerging, and the possibility of successful gene therapy by transfer of the normal gene to airway epithelial cells is being vigorously pursued.
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Cites
Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
Riordan, J. R., Rommens, J. M., Kerem, B.-S., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J.-L., et al. (1989) · Science · doi:10.1126/science.2475911 · Cited by 7,418
Self-citationIdentification of the Cystic Fibrosis Gene: Genetic Analysis
Kerem, B.-S., Rommens, J. M., Buchanan, J. A., Markiewicz, D., Cox, T. K., Chakravarti, A., Buchwald, M., & Tsui, L.-C. (1989) · Science · doi:10.1126/science.2570460 · Cited by 4,142
Gibson, L. E., & Cooke, R. E. (1959) · Pediatrics · doi:10.1542/peds.23.3.545 · Cited by 1,434
Cited by
Fuchs, H. J., Borowitz, D. S., Christiansen, D. H., Morris, E. M., Nash, M. L., Ramsey, B. W., Rosenstein, B. J., Smith, A. L., & Wohl, M. E. (1994) · New England Journal of Medicine · doi:10.1056/nejm199409083311003 · Cited by 1,539
Ratjen, F., & Döring, G. (2003) · The Lancet · doi:10.1016/s0140-6736(03)12567-6 · Cited by 885
Veit, G., Avramescu, R. G., Chiang, A. N., Houck, S. A., Cai, Z., Peters, K. W., Hong, J. S., Pollard, H. B., Guggino, W. B., Balch, W. E., et al. (2016) · Molecular Biology of the Cell · doi:10.1091/mbc.e14-04-0935 · Cited by 580
Genetic architecture: the shape of the genetic contribution to human traits and disease
Timpson, N. J., Greenwood, C. M. T., Soranzo, N., Lawson, D. J., & Richards, J. B. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.101 · Cited by 434
Highsmith, W. E., Burch, L. H., Zhou, Z., Olsen, J. C., Boat, T. E., Spock, A., Gorvoy, J. D., Quittell, L., Friedman, K. J., Silverman, L. M., et al. (1994) · New England Journal of Medicine · doi:10.1056/nejm199410133311503 · Cited by 441
Metadata
- Authors
- Collins, F.
- Venue
- Science
- Published
- 1992-05-08
- Volume
- 256
- Issue
- 5058
- Pages
- 774-779
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2028171116
- Cited by
- 822
- References
- 3
- FWCI
- 88.11
- Type
- journal article
- Language
- en
- Open access
- closed
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.