The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
MODIFIER GENETICS: Cystic Fibrosis
Abstract
▪ Abstract Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder in the Caucasian population, affecting about 30,000 individuals in the United States. The gene responsible for CF, the CF transmembrane conductance regulator (CFTR), was identified 15 years ago. Substantial variation in the many aspects of the CF phenotype among individuals with the same CFTR genotype demonstrates that factors independent of CFTR exert considerable influence on outcome in CF. To date, the majority of published studies investigating the cause of disease variability in CF report associations between candidate genes and some aspect of the CF phenotype. However, a definitive modifier gene for CF remains to be identified. Despite the challenges posed by searches for modifier effects, studies of affected twins and siblings indicate that genetic factors play a substantial role in intestinal manifestations. Identifying the factors contributing to variation in pulmonary disease, the primary cause of mortality, remains a challenge for CF research.
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Bobadilla, J. L., Macek, M., Fine, J. P., & Farrell, P. M. (2002) · Human Mutation · doi:10.1002/humu.10041 · Cited by 1,032
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
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Carnitine—metabolism and functions
Bremer, J. (1983) · Physiological Reviews · doi:10.1152/physrev.1983.63.4.1420 · Cited by 1,666
International consensus statement on allergy and rhinology: rhinosinusitis 2021
Orlandi, R. R., Kingdom, T. T., Smith, T. L., Bleier, B., DeConde, A., Luong, A. U., Poetker, D. M., Soler, Z., Welch, K. C., Wise, S. K., et al. (2021) · International Forum of Allergy & Rhinology · doi:10.1002/alr.22741 · Cited by 959
International Consensus Statement on Allergy and Rhinology: Rhinosinusitis
Orlandi, R. R., Kingdom, T. T., Hwang, P. H., Smith, T. L., Alt, J. A., Baroody, F. M., Batra, P. S., Bernal‐Sprekelsen, M., Bhattacharyya, N., Chandra, R. K., et al. (2016) · International Forum of Allergy & Rhinology · doi:10.1002/alr.21695 · Cited by 892
Hsp90 Cochaperone Aha1 Downregulation Rescues Misfolding of CFTR in Cystic Fibrosis
Wang, X., Venable, J., LaPointe, P., Hutt, D. M., Koulov, A. V., Coppinger, J., Gurkan, C., Kellner, W., Matteson, J., Plutner, H., et al. (2006) · Cell · doi:10.1016/j.cell.2006.09.043 · Cited by 601
Recombinant pharmaceuticals from microbial cells: a 2015 update
Sanchez-Garcia, L., Martín, L., Mangues, R., Ferrer-Miralles, N., Vázquez, E., & Villaverde, A. (2016) · Microbial Cell Factories · doi:10.1186/s12934-016-0437-3 · Cited by 339
Metadata
- Authors
- Cutting, G. R.
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2005-09-01
- Volume
- 6
- Issue
- 1
- Pages
- 237-260
- ISSN
- 1527-8204 (ISSN-L)
- 1545-293X
- OpenAlex
- W2148935969
- Cited by
- 182
- References
- 2
- FWCI
- 3.45
- 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).
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