Cystic fibrosis (CF) patients bearing the premature translation termination mutation (nonsense mutation) W1282X present severe pulmonary and pancreatic disease, whereas patients carrying other nonsense mutations such as G542X, R553X, S1255X, R1162X, and W1316X show a severe pancreatic but mild pulmonary illness. CF gene expression was found absent in respiratory tissues with mutations R553X and...

, 246ra96 (2014); 6 Sci Transl Med et al. Deborah M. Cholon CFTR in cystic fibrosis F508 ∆ Potentiator ivacaftor abrogates pharmacological correction of Editor's Summary potentiators make CFTR less stable, accelerating the removal of this channel from the cell membrane. and Veit and coauthors now show that combining the two types of drugs does not work effectively, because surface. Other drugs...

Many cellular functions necessary for life are tightly regulated by protein allosteric conformational change, and correlated dynamics between protein regions has been found to contribute to the function of proteins not previously considered allosteric. The ability to map and control such dynamic coupling would thus create opportunities for the extension of current therapeutic design strategy. H...

Most published studies about Cystic Fibrosis (CF) are European or North American. There are still few publications about the characteristics of fibrocystic populations in developing countries. The incidence of cystic fibrosis (CF) in Brazil varies among different regions (1 : 10,000 in Minas Gerais, 1 : 9,500 in Paraná, 1 : 8,700 in Santa Catarina, and 1 : 1600 in Rio Grande do Sul). The preval...

Cystic fibrosis (CF) is an autosomal recessive disease found mostly in the Caucasian population; a major complication of CF that often leads to mortality is lung inflammation. Playing a key role in the inflammation, as demonstrated by several studies, is the continuous recruitment of neutrophils to the lung [1-3]. Despite these millions of activated neutrophils, CF patients cannot adequately de...

The manuscript by KING et al. [1] in this issue of the European Respiratory Journal raises the possibility that mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) may be responsible, at least in part, for low bone density in CF cohorts. More than 100 publications from around the globe, the majority in the last decade, have described low bone density in CF adult and...

Objectives: Cystic fibrosis (CF) is lifelong, life-threatening inherited disorder with autosomal recessive pattern. Pathogenic mutation(s) in cystic transmembrane conductance regulator (CFTR) gene cause CF disease. The CFTR encodes ion transport channel that regulates homeostasis around epithelial cells, and malformed may root multisystemic clinical complications ranging from respiratory to dig...

زمینه و هدف: کم‌تحرکی در مقابل آن تمرین جزء عوامل مرتبط با شاخص‌های آسیب کبدی به‌شمار می‌روند. وجود این هنوز نقش بسیاری از تمرین‌های ورزشی به‌ویژه تمرینات تناوبی مقاومتی مصرف برخی مکمل‌های غذایی جمله اسپیرولینا بر ایمنی التهابی کاملاٌ شناخته نشده است؛ بنابراین هدف پژوهش تعیین اثر هشت هفته مکمل‌دهی هوازی فعالیت بافت کبد بیان ژن CXCL1 عضلة موش‌های صحرایی نر بود.مواد روش‌ها: نیمه‌تجربی، 60 سر موش ن...