chloride conductance in airway cell line, primary human cell cultures and most importantly from cells with CFTR mutations.
The disease gene is named CFTR, which stands for cystic fibrosis transmembrane conductance regulator.
Molecules are able to activate chloride conductance in airway cell line, primary human cell cultures and most importantly from cells with CFTR mutations.
The results were the same: Cells containing mutant CFTR proteins also formed aggregates and became brightly fluorescent.
Whereas high-level expression of the gene encoding CFTR has been demonstrated in the human pancreas (Ref.
Nevertheless, mouse models of CF clearly demonstrate a range of abnormal pulmonary phenotypes as a result of the Cftr mutation.
Underlying molecular defect CF is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein.
The gene that, when defective, causes CF is called the CFTR gene, which stands for cystic fibrosis transmembrane conductance regulator.
There are over 500 known defects in the CFTR gene that can cause CF.
However, 70 percent of all people with a defective CFTR gene have the same defect, known as delta-F508.
In other words, the delta-F508 mutation is a loss of one "letter" out of thousands within the CFTR gene.
As a result, the CFTR protein made from its blueprint is made incorrectly and cannot perform its function properly.
The CFTR protein helps to produce mucus.
The role of the CFTR protein is to allow chloride ions to exit the mucus-producing cells.
In this way, the CFTR protein helps to keep mucus from becoming thick and sluggish, thus allowing the mucus to be moved steadily along the passageways to aid in cleansing.
In CF, the CFTR protein cannot allow chloride ions out of the mucus-producing cells.
Each person actually has two copies of each gene, including the CFTR gene, in each of their body cells.
For the CFTR gene, for instance, a person may have two normal copies, or one normal and one mutated copy, or two mutated copies.
A carrier will not have symptoms of CF but can pass on the mutated CFTR gene to his/her children.
They have a two-in-four chance of having a child who is a carrier, and a one-in-four chance of having a child with two normal CFTR genes.
Most of these people do not have the delta-F508 mutation but a different one, which presumably allows at least some of their CFTR proteins to function normally in the pancreas.
The CFTR protein helps to regulate the amount of salt in sweat.
The discovery of the CFTR gene in 1989 allowed the development of an accurate genetic test for CF.
In this set of techniques, non-defective copies of the CFTR gene are delivered to affected cells, where they are taken up and used to create the CFTR protein.
Cystic fibrosis transmembrane conductance regulator (CFTR)-The protein responsible for regulating chloride movement across cells in some tissues.
Cystic fibrosis results when a person has two defective copies of the CFTR gene.
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