Journal
CELL BIOLOGY INTERNATIONAL
Volume 35, Issue 5, Pages 463-466Publisher
PORTLAND PRESS LTD
DOI: 10.1042/CBI20100664
Keywords
CFTR; cystic fibrosis; epigenetic; microRNA
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Funding
- Focused Investment of the Chinese University of Hong Kong
- NSFC [30870933]
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CF (cystic fibrosis) is a recessive genetic disease caused by mutations of the CFTR (cystic fibrosis transmembrane conductance regulator), a cAMP-activated anion channel, exhibiting a multitude of clinical manifestations including lung inflammation/infection, pancreatic insufficiency/diabetes, intestinal obstruction and infertility in both sexes. While mutation DF508 is found in 70% of CF patients, large variation in disease phenotypes and severity is observed among the patients. This review discusses current theories accounting for the disease variations and puts forth an epigenetic hypothesis involving microRNAs.
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