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To conquer cystic fibrosis: One genotype each time

Xiaolong Gao1

  • 1Dalton Cardiovascular Research Center, University of Missouri-Columbia, Columbia, MO, USA.

The Journal of Physiology
|August 22, 2025
PubMed
Summary

No abstract available in PubMed .

Keywords:
CFTR modulatorsRare mutationscystic fibrosis transmembrane conductance regulator

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
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