[SLC6A14, a modifier gene in cystic fibrosis]. / SLC6A14, un gène modificateur dans la mucoviscidose.
Rev Mal Respir
; 37(3): 218-221, 2020 Mar.
Article
in Fr
| MEDLINE
| ID: mdl-32146055
ABSTRACT
Although cystic fibrosis is a monogenic disease, a considerable clinical phenotypic variability is observed in patients with the same CFTR mutations. Thanks to the development of new and powerful tools for carrying out genetic studies, several genes called "modifier genes" have been identified as being associated with the severity of the lung function disorder in cystic fibrosis patients. Among these genes, SLC6A14 may modulate the anti-infective response and epithelial integrity of the airways, thus providing a potential therapeutic target to improve the patient's lung function.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cystic Fibrosis
/
Amino Acid Transport Systems
/
Genes, Modifier
Limits:
Animals
/
Humans
Language:
Fr
Journal:
Rev Mal Respir
Year:
2020
Document type:
Article