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Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
Cystic fibrosis transmembrane conductance regulator (CFTСR) is a membrane protein and anion channel in vertebrates that is encoded by the CFTR gene. [ 5 ] [ 6 ] Geneticist Lap-Chee Tsui and his team identified the CFTR gene in 1989 as the gene linked with CF ( cystic fibrosis ).
Human cystic fibrosis transmembrane conductance regulator (CFTR) [8] Cystic fibrosis affects pancreatic ducts as well as many other secretory epithelia. Cystic fibrosis transmembrane conductance regulator is the mutated gene and is essential to chloride and bicarbonate secretion. [3]
English: Cystic fibrosis manifestations. Source: Own work, and this is a derivative work from this file that was originally made by User:Mikael Häggström. Reference.
Cystic fibrosis is a consequence of imbalances in the PCL. [9] Accumulated mucus, apart from causing varying degrees of airflow obstruction, makes a breeding ground for bacteria that cause many respiratory infections that can seriously worsen existing lung disorders.
Cystic fibrosis (CF) is an autosomal recessive hereditary monogenic disease of the lungs, sweat glands and digestive system. The disorder is caused by the malfunction of the CFTR protein, which controls intermembrane transport of chloride ions, which is vital to maintaining equilibrium of water in the body. The malfunctioning protein causes ...
Cystic fibrosis (CF) is a disease based on mutations in the CF transmembrane conductance regulator (CFTR) gene. There are over 1500 mutations identified, but not all cause the disease. [21] Most cases of cystic fibrosis are a result of the ∆F508 mutation, which deletes the entire amino acid.
Cystic fibrosis is caused by mutations in the CFTR gene on chromosome 7, the most common mutation being deltaF508 (a deletion of a codon coding for phenylalanine, which occupies the 508th amino acid position in the normal CFTR polypeptide). Any of these mutations can prevent the proper folding of the protein and induce its subsequent ...