
CFTR - Johns Hopkins Cystic Fibrosis Center
The 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 …
Cystic fibrosis transmembrane conductance regulator
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 …
CF Genetics: The Basics - Cystic Fibrosis Foundation
Cystic 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 …
Basics of the CFTR Protein - Cystic Fibrosis Foundation
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 …
Welcome to CFTR2 | CFTR2
2024年9月25日 · CFTR2 is a website that provides information for patients, researchers, and the general public about specific variants in what is commonly referred to as the cystic fibrosis …
Cystic Fibrosis - GeneReviews® - NCBI Bookshelf
2001年3月26日 · CFTR encodes cystic fibrosis transmembrane conductance regulator (CFTR), an integral membrane protein that functions as a regulated chloride channel located at the …
CFTR Modulator Therapies - Cystic Fibrosis Foundation
Cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies are designed to correct the malfunctioning protein made by the CFTR gene. Because different mutations …
CFTR function, pathology and pharmacology at single-molecule
2023年3月22日 · The cystic fibrosis transmembrane conductance regulator (CFTR) is an anion channel that regulates salt and fluid homeostasis across epithelial membranes1.
The Clinical Biology of Cystic Fibrosis Transmembrane Regulator Protein
Normal cystic fibrosis (CF) transmembrane regulator (CFTR) protein has multiple functions in health and disease. Many mutations in the CFTR gene produce abnormal or absent protein. …
Cystic fibrosis - Nature Reviews Disease Primers
2024年8月8日 · Cystic fibrosis is a rare genetic disease caused by mutations in CFTR, the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR). The discovery of...
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