نتایج جستجو برای: cftr gene
تعداد نتایج: 1145251 فیلتر نتایج به سال:
We have generated a mouse carrying the human G551D mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR) by a one-step gene targeting procedure. These mutant mice show cystic fibrosis pathology but have a reduced risk of fatal intestinal blockage compared with 'null' mutants, in keeping with the reduced incidence of meconium ileus in G551D patients. The G551D mutant mi...
..........................................................................................................48 Introduction .....................................................................................................49 Materials and Methods ...................................................................................50 Results...........................................................
Cystic Fibrosis (CF) is the most common autosomal recessive disease in Caucasian populations, with an incidence of 1 out of 5000 newborns in Cuba. Although cystic fibrosis transmembrane conductance regulator (cftr) gene was cloned and the mutation of this gene responsible for most CF cases, F508del was already identified by 1998, more than 1400 additional cftr mutations have been described. The...
Peptide nucleic acids (PNAs) are very useful tools for gene regulation at different levels, but in particular in the last years their use for targeting microRNA (anti-miR PNAs) has provided impressive advancements. In this respect, microRNAs related to the repression of cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is defective in cystic fibrosis, are of great importanc...
In congenital bilateral absence of the vas deferens patients, the T5 allele at the polymorphic Tn locus in the CFTR (cystic fibrosis transmembrane conductance regulator) gene is a frequent disease mutation with incomplete penetrance. This T5 allele will result in a high proportion of CFTR transcripts that lack exon 9, whose translation products will not contribute to apical chloride channel act...
Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene that impair the function of CFTR, an epithelial chloride channel required for proper function of the lung, pancreas, and other organs. Most patients with CF carry the F508del CFTR mutation, which causes defective CFTR protein folding and processing in the endoplasmic reticulum, resulting in min...
Cystic fibrosis, an autosomal recessive disorder caused by a mutation in a gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), remains a leading cause of childhood respiratory morbidity and mortality. The respiratory consequences of cystic fibrosis include the generation of thick, tenacious mucus that impairs lung clearance, predisposing the individual to repeated and ...
OBJECTIVE To determine which features of incomplete or "nonclassic" forms of cystic fibrosis (CF) are associated with deleterious CF transmembrane conductance regulator gene ( CFTR ) mutations, and to explore other etiologies for features not associated with deleterious CFTR mutations. STUDY DESIGN Clinical features were compared between 57 patients with deleterious mutations in each CFTR and...
Background Cystic fibrosis (CF) is a genetic disease characterised by chronic bacterial infection of the lung and destruction of lung tissue eventually leading to respiratory failure. CF is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Current treatment focuses on managing the symptoms of CF including antibiotic therapy against respiratory infections and vitamin...
Introduction: The cystic fibrosis transmembrane conductance regulator (CFTR) chloride (Cl−) channel is an essential component of epithelial Cl− transport systems in many organs. CFTR is mainly expressed in the lung and other tissues, such as testis, duodenum, trachea and kidney. The ubiquitin ligase neural precursor cells expressed developmentally down-regulated protein 4-2 (Nedd4-2...
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