[SLC6A14, a modifier gene in cystic fibrosis]. / SLC6A14, un gène modificateur dans la mucoviscidose.
Rev Mal Respir
; 37(3): 218-221, 2020 Mar.
Article
em 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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fibrose Cística
/
Sistemas de Transporte de Aminoácidos
/
Genes Modificadores
Limite:
Animals
/
Humans
Idioma:
Fr
Revista:
Rev Mal Respir
Ano de publicação:
2020
Tipo de documento:
Article