Cargando…
Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia
BACKGROUND: The cystic fibrosis (CF) basic defect, caused by dysfunction of the apical chloride channel CFTR in the gastrointestinal and respiratory tract epithelia, has not been employed so far to support the role of CF modifier genes. METHODS: Patients were selected from 101 families with a total...
Autores principales: | Stanke, Frauke, Becker, Tim, Kumar, Vinod, Hedtfeld, Silke, Becker, Christian, Cuppens, Harry, Tamm, Stephanie, Yarden, Jennifer, Laabs, Ulrike, Siebert, Benny, Fernandez, Luis, Macek, Milan, Radojkovic, Dragica, Ballmann, Manfred, Greipel, Joachim, Cassiman, Jean-Jacques, Wienker, Thomas F, Tümmler, Burkhard |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BMJ Group
2010
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3003880/ https://www.ncbi.nlm.nih.gov/pubmed/20837493 http://dx.doi.org/10.1136/jmg.2010.080937 |
Ejemplares similares
-
An association study on contrasting cystic fibrosis endophenotypes recognizes KRT8 but not KRT18 as a modifier of cystic fibrosis disease severity and CFTR mediated residual chloride secretion
por: Stanke, Frauke, et al.
Publicado: (2011) -
CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine
por: Kolbe, Ernst-Wolfgang, et al.
Publicado: (2013) -
The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells
por: Stanke, Frauke, et al.
Publicado: (2014) -
A regulatory SNP modifies cystic fibrosis by disrupting NFκB complex binding on FAS
por: Awah, Chidiebere U, et al.
Publicado: (2015) -
Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B
por: Becker, Tim, et al.
Publicado: (2020)