Cystic fibrosis is caused by a change, or mutation, in a gene called CFTR (cystic fibrosis transmembrane conductance regulator). The protein in this gene controls the flow of salt and fluids in and out of your cells. If the CFTR gene doesn’t work properly, a sticky mucus builds up in ...
colon, pancreas and sweat glands. In cystic fibrosis, CFTR dysfunction causes significant morbidity/mortality. Whilst CFTR’s function as an ion channel has been well described, its ability to regulate other proteins is less understood. We have previously shown that plasma membrane...
The impact of cystic fibrosis gene mutations on the long-term course of chronic pancreatitis was assessed. RESULTS: A cystic fibrosis gene mutation was detected in five of 49 patients with alcoholic chronic pancreatitis (10.2%; 2.3 times the expected frequency) and in three of 14 patients with ...
Cystic fibrosis 3849+10kb C > T mutation associated with severe pulmonary disease and male fertility. 来自 国家科技图书文献中心 喜欢 0 阅读量: 45 作者:DAVID H. DREYFUS,ROBERT BETHEL,ERWIN W. GELFAND 展开 摘要: A 40-yr-old Hispanic man presented to NJCIRM with end-stage lung disease. ...
(Feb. 1 issue)1 furthers the evaluation of the ΔF508 mutation, which is associated with some cases of cystic fibrosis. Although its real effect may be to help in documenting the substantial clinical variation that can occur among persons who possess the same small genetic deletion, the ...
Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland Germline mutations in either of the two major breast cancer predisposition genes, BRCA1 and BRCA2, account for a significant proportion of hereditary breas... D Hughes,T Dörk,M St...
摘要: The key defect in cystic fibrosis is loss of chloride conductance, but mutations of the cystic fibrosis gene product, the CFTR, have multiple effects on cell physiology; new results help to reconcile these facts.关键词: vasoactive intestinal peptide VIP, hybrid antagonist hybrid peptides ...
Among the 1700 mutations reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, a missense mutation, p.Ser1235Arg, is a relatively frequent finding. To clarify its clinical significance, we collected data from 104 subjects heterozygous for the mutation p.Ser1235Arg from the...
Mutation in the Gene Responsible for Cystic Fibrosis and Predisposition to Chronic Rhinosinusitisin the General Water pik can become colonized, as all wet... DE Pathman - 《Annals Family Med》 被引量: 0发表: 0年 Nasal mucosa expression of lactoferrin in patients with chronic rhinosinusitis Objecti...
Gene modifiers in cystic fibrosis 来自 Nature 喜欢 0 阅读量: 15 作者:FJ Accurso,Marci K. Sontag 摘要: finding in the study of Dorfman et al. is the remarkable similarity in clinical char- acteristics between patients homozygous for the ΔF508 CFTR mutation in CF and patients who carry ...