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- W2473468082 abstract "Cystic fibrosis remains a common, life-threatening, incurable genetic disease in the Caucasian population. CF is caused by mutations in the CFTR gene on the long arm of chromosome 7. There are several mutations known, and phenotypic effects are variable. Despite advances in understanding CF pathology, treatment is still limited to the amelioration of symptoms, leaving much to be desired in terms of available therapeutic strategies. In recent years, the pig model has yielded a better understanding of clinically relevant aspects of human CF. The primary complication in human CF is respiratory dysfunction, although many other organ systems are affected. Male fertility is known to be adversely affected by CF, although the specific role of CFTR in this defect is unclear. More work to determine the mechanisms of CFTR function and dysfunction is needed, and the need for widespread use of large animal models to better understand human CF has been expressed in current literature." @default.
- W2473468082 created "2016-07-22" @default.
- W2473468082 creator A5034588016 @default.
- W2473468082 date "2012-12-03" @default.
- W2473468082 modified "2023-09-23" @default.
- W2473468082 title "Recent advances in understanding the mechanisms of CFTR pathophysiology" @default.
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