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[SLC6A14, a modifier gene in cystic fibrosis]. / SLC6A14, un gène modificateur dans la mucoviscidose.
Ruffin, M; Mercier, J; Calmel, C; Mésinèle, J; Corvol, H; Guillot, L.
Afiliação
  • Ruffin M; Sorbonne université, Inserm UMR S 938, Centre de recherche Saint-Antoine (CRSA), Paris, France. Electronic address: manon.ruffin@inserm.fr.
  • Mercier J; Sorbonne université, Inserm UMR S 938, Centre de recherche Saint-Antoine (CRSA), Paris, France.
  • Calmel C; Sorbonne université, Inserm UMR S 938, Centre de recherche Saint-Antoine (CRSA), Paris, France.
  • Mésinèle J; Sorbonne université, Inserm UMR S 938, Centre de recherche Saint-Antoine (CRSA), Paris, France.
  • Corvol H; Sorbonne université, Inserm UMR S 938, Centre de recherche Saint-Antoine (CRSA), Paris, France; Pneumologie pédiatrique, AP-HP, hôpital Trousseau, Paris, France.
  • Guillot L; Sorbonne université, Inserm UMR S 938, Centre de recherche Saint-Antoine (CRSA), Paris, France.
Rev Mal Respir ; 37(3): 218-221, 2020 Mar.
Article em Fr | MEDLINE | ID: mdl-32146055
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.
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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 Ano de publicação: 2020 Tipo de documento: Article

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 Ano de publicação: 2020 Tipo de documento: Article