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CFTR - Johns Hopkins Cystic Fibrosis Center
https://hopkinscf.org/knowledge/cftr/
webThe cystic fibrosis transmembrane conductance regulator (CFTR) is defective in cystic fibrosis (CF). This protein is a channel that sits on the surface of cells and transports chloride and other molecules, such as bicarbonate. The gene that encodes the CFTR protein, which is also called CFTR, is located on chromosome 7.
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Cystic fibrosis transmembrane conductance regulator - Wikipedia
https://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator
webEssentially, CFTR is an ion channel that evolved as a 'broken' ABC transporter that leaks when in the open conformation. CFTRs consist of five domains including two trans-membrane domains, each linked to a nucleotide-binding domain. CFTR also contains another domain called the regulatory domain.
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Basics of the CFTR Protein | Cystic Fibrosis Foundation
https://www.cff.org/research-clinical-trials/basics-cftr-protein
webSummary. The cystic fibrosis transmembrane conductance regulator (CFTR) protein helps to maintain the balance of salt and water on many surfaces in the body, such as the surface of the lung. The CFTR protein is a particular type of protein called an ion channel. In the lung, the CFTR ion channel moves chloride ions from inside the cell to ...
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CFTR function, pathology and pharmacology at single-molecule
https://www.nature.com/articles/s41586-023-05854-7
webMar 22, 2023 · CFTR belongs to the ATP-binding cassette transporter family of proteins, but uniquely functions as an ion channel 4. It consists of two transmembrane domains that form an ion permeation pathway,...
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CF Genetics: The Basics | Cystic Fibrosis Foundation
https://www.cff.org/intro-cf/cf-genetics-basics
webCystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. In people with CF, mutations in the CFTR gene can disrupt the normal production or functioning of the CFTR protein found in the cells of the lungs and other parts of the body.
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Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) - Healthline
https://www.healthline.com/health/cystic-fibrosis/cystic-fibrosis-transmembrane-conductance-regulator
webApr 25, 2023 · What Is Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)? Function. CF and CFTR. Effect on lungs. Effect on pancreas. Effect on other systems. CFTR modulators. Genetic testing....
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Cystic fibrosis transmembrane conductance regulator (CFTR): …
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6986785/
webAug 28, 2018 · ABSTRACT. Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR). CFTR is a member of the ATP-binding cassette (ABC) family of membrane transport proteins, most members of which function as ATP-dependent pumps. CFTR is unique among human ABC proteins in functioning not as a …
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Cystic Fibrosis Transmembrane Conductance Regulator (CFTR
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7243099/
webApr 22, 2020 · Cystic fibrosis transmembrane conductance regulator (CFTR) is a cyclic AMP (cAMP)-dependent chloride (Cl −) and HCO 3− ion channel that dominantly expresses at the apical plasma membrane (PM) of epithelial cells. CFTR is composed of two membrane-spanning domains (MSD1,2), a regulatory domain (R), and two nucleotide-binding domains …
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Cystic Fibrosis | NEJM
https://www.nejm.org/doi/full/10.1056/NEJMra2216474
webCFTR encodes for an ion channel, CFTR, that is involved in regulation of the water–electrolyte balance on the surface of many organ systems, including the upper and lower airways, intestine,...
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CFTR structure, stability, function and regulation - PubMed
https://pubmed.ncbi.nlm.nih.gov/30738013/
webSep 25, 2019 · Cystic fibrosis transmembrane conductance regulator (CFTR) is a unique member of the ATP-binding cassette family of proteins because it has evolved into a channel. Mutations in CFTR cause cystic fibrosis, the most common genetic disease in people of European origin.
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