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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. Cystic fibrosis transmembrane conductance regulator (CFTR) 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).
Cystic fibrosis (CF) is an autosomal recessive and monogenetic disorder. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. [3] The CFTR protein (Figure 1) serves to move chloride ions to the surface of cells to ensure proper hydration. When this protein becomes dysfunctional, the chloride ions are ...
Kupffer cells comprise the largest population of tissue-resident macrophages in the body. Gut bacteria, bacterial endotoxins, and microbial debris transported to the liver from the gastrointestinal tract via the portal vein will first come in contact with Kupffer cells, the first immune cells in the liver. It is because of this that any change ...
Pseudomonas aeruginosa. Pseudomonas aeruginosa is a common encapsulated, Gram-negative, aerobic – facultatively anaerobic, rod-shaped bacterium that can cause disease in plants and animals, including humans. [1][2] A species of considerable medical importance, P. aeruginosa is a multidrug resistant pathogen recognized for its ubiquity, its ...
The CFTR inhibitory factor (Cif) is a protein virulence factor secreted by the Gram-negative bacteria Pseudomonas aeruginosa [1] and Acinetobacter nosocomialis. [2] 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 ...
Most focus on severe genetic disorders, including immunodeficiencies, haemophilia, thalassaemia, and cystic fibrosis. Such single gene disorders are good candidates for somatic cell therapy. The complete correction of a genetic disorder or the replacement of multiple genes is not yet possible. Only a few of the trials are in the advanced stages.
Osteitis fibrosa cystica (/ ˌ ɒ s t i ˈ aɪ t ɪ s f aɪ ˈ b r oʊ s ə ˈ s ɪ s t ɪ k ə / OSS-tee-EYE-tis fy-BROH-sə SIS-tik-ə) is a skeletal disorder resulting in a loss of bone mass, a weakening of the bones as their calcified supporting structures are replaced with fibrous tissue (peritrabecular fibrosis), and the formation of cyst-like brown tumors in and around the bone.