cystic fibrosis transmembrane conductance regulator การใช้

• 1 ) Cystic fibrosis-like syndrome with normal cystic fibrosis transmembrane conductance regulator ( CFTR ) protein levels
• SLC4A8 has been shown to interact with Sodium-hydrogen antiporter 3 regulator 1 and Cystic fibrosis transmembrane conductance regulator.
• The CFTR locus is named for one of the 10 genes it contains, the cystic fibrosis transmembrane conductance regulator gene.
• Cystic fibrosis transmembrane conductance regulator ( CFTR ) is an inefficiently folded integral membrane protein that is degraded by the cytoplasmic ubiquitin-proteasome pathway.
• MT-ND4 is downregulated in cystic fibrosis, a disease that results from mutations in the cystic fibrosis transmembrane conductance regulator ( CFTR ) channel.
• Involved genes may include Trypsin 1, which codes for trypsinogen, SPINK1, which codes for a trypsin inhibitor, or cystic fibrosis transmembrane conductance regulator.
• Posttesticular azoospermia can be seen with certain point mutations in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene commonly associated with congenital vas deferens abnormalities.
• Studies in cystic fibrosis cases suggest that MT-ND4 expression is indirectly upregulated by the cystic fibrosis transmembrane conductance regulator ( CFTR ) channel chloride transport activity.
• In this model, the genetic deficiency in the cystic fibrosis transmembrane conductance regulator channel proteins interferes with bacteria binding to the gastrointestinal epithelium, thus reducing the effects of an infection.
• That mutation, first identified by other researchers in 1989, causes errors in the production of a protein on the surface of a cell, CFTR, or cystic fibrosis transmembrane conductance regulator.
• Studies have also shown the FXR to regulate the expression and activity of epithelial transport proteins involved in fluid homestasis in the intestine, such as the cystic fibrosis transmembrane conductance regulator ( CFTR ).
• A high prevalence ( 40-70 % ) of patients with cystic fibrosis show signs of asthma, possibly due to the primary deficiency in the cystic fibrosis transmembrane conductance regulator ( CFTR ).
• At least 800 different defects, or mutations, are known to occur in this critical gene, which causes a cell to create a protein called the cystic fibrosis transmembrane conductance regulator, or CFTR.
• Data from three trials on Topical cystic fibrosis transmembrane conductance regulator gene therapy were reported to not support its clinical use as a mist inhaled into the lungs to treat cystic fibrosis patients with lung infections.
• Discovered at Dartmouth Medical School, Cif is able to alter the trafficking of select ABC transporters in eukaryotic epithelial cells, such as the cystic fibrosis transmembrane conductance regulator ( CFTR ), by interfering with the host deubiquitinating machinery.
• In November 2007, Actelion initiated a clinical trial with miglustat in people with cystic fibrosis ( CF ) who have the ?F508 in both copies of the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene; the study ended in March 2008.
• A high frequency of mutation of the G551D gene CFTR ( cystic fibrosis transmembrane conductance regulator ), causing cystic fibrosis is found in the Czech Republic, Austria, and among the Celtic nations : Wales, Scotland, Cornwall, Ireland and Brittany.
• One such region on chromosome 7 contains the FOXP2 gene ( mentioned above ) and this region also includes the Cystic fibrosis transmembrane conductance regulator ( CFTR ) gene, which is important for ion transport in tissues such as the salt-secreting epithelium of sweat glands.
• Francis Collins, present director of the NIH, was the first to receive the prize, which honored his discovery of the cystic fibrosis transmembrane conductance regulator encoding gene CFTR, mutated in cystic fibrosis, a genetic disease commonly found in Caucasian populations and often accompanied by severe pulmonary manifestations.
• Cystic Fibrosis ( CF ) is a disease resulting from a failure to maintain the level of cystic fibrosis transmembrane conductance regulator ( CFTR ), which functions as a chloride channel in pulmonary tissues . ?F508 point mutation in CFTR protein interferes with maturation of the protein has been found in a number of CF patients.