Infrared biomarkers of impaired cystic fibrosis transmembrane regulator protein biogenesis

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Giuseppe Bellisola ◽  
Sara Caldrer ◽  
Mariangela Cestelli‐Guidi ◽  
Gianfelice Cinque
Keyword(s):  
Cystic Fibrosis ◽  
Cystic Fibrosis Transmembrane Regulator ◽  
Regulator Protein ◽  
Protein Biogenesis ◽  
Cystic Fibrosis Transmembrane

Cystic fibrosis

2020 ◽  
pp. 4151-4165
Author(s):  
Andrew Bush ◽  
Caroline Elston
Keyword(s):  
Cystic Fibrosis ◽  
Sodium Bicarbonate ◽  
European Population ◽  
Chloride Ions ◽  
Cystic Fibrosis Transmembrane Regulator ◽  
Chromosome 7 ◽  
Cystic Fibrosis Gene ◽  
Inherited Disease ◽  
Regulator Protein ◽  
Cystic Fibrosis Transmembrane

Cystic fibrosis (CF) is a recessively inherited disease caused by mutations in the cystic fibrosis gene, located on the long arm of chromosome 7, which codes for a membrane protein—the cystic fibrosis transmembrane regulator protein—that is a chloride channel. More than 2,000 CF mutations have been identified, with the Δ‎F508 mutation being the most common of around 200 mutations that definitely cause disease (70% of CF chromosomes in the European population). Birth incidence varies with country of origin from 1 in 2,000 to 1 in 100,000. The most popular hypothesis is that mutant cystic fibrosis transmembrane regulator protein fails to transport chloride ions normally, and there is secondary impairment of sodium, bicarbonate, and water transport.

Cystic fibrosis

2010 ◽  
pp. 3353-3364
Author(s):  
Andrew Bush ◽  
Caroline Elston
Keyword(s):  
Cystic Fibrosis ◽  
Membrane Protein ◽  
Chloride Channel ◽  
Cystic Fibrosis Transmembrane Regulator ◽  
Chromosome 7 ◽  
Cystic Fibrosis Gene ◽  
Inherited Disease ◽  
Regulator Protein ◽  
Cystic Fibrosis Transmembrane

Cystic Fibrosis (CF) is a recessively inherited disease caused by mutations in the cystic fibrosis gene, located on the long arm of chromosome 7, which codes for a membrane protein—the cystic fibrosis transmembrane regulator protein (CFTR)—that is a chloride channel. Around 1300 CF mutations have been identified, with the ...

scholarly journals Origin and evolution of the cystic fibrosis transmembrane regulator protein R domain

Gene ◽  
2013 ◽  
Vol 523 (2) ◽  
pp. 137-146 ◽  
Author(s):  
Aswathy Sebastian ◽  
Lavanya Rishishwar ◽  
Jianrong Wang ◽  
Karen F. Bernard ◽  
Andrew B. Conley ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Cystic Fibrosis Transmembrane Regulator ◽  
Origin And Evolution ◽  
Regulator Protein ◽  
Cystic Fibrosis Transmembrane ◽  
R Domain
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