Involvement of the Cdc42 pathway in CFTR post-translational turnover and in its plasma membrane stability in airway epithelial cells.

by Romain Ferru-Clément, Fleur Fresquet, Caroline Norez, Thierry Métayé, Frédéric Becq, Alain Kitzis, Vincent Thoreau
Published 2015-01-01

N1303K (c.3909C>G) Mutation and Splicing: Implication of Its c.[744-33GATT(6); 869+11C>T] Complex Allele in CFTR Exon 7 Aberrant Splicing

by Raëd Farhat, Géraldine Puissesseau, Ayman El-Seedy, Marie-Claude Pasquet, Catherine Adolphe, Sandra Corbani, André Megarbané, Alain Kitzis, Véronique Ladeveze
Published 2015-01-01

Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.

by Ferdos Alaa El Din, Sylvie Patri, Vincent Thoreau, Montserrat Rodriguez-Ballesteros, Eva Hamade, Sabine Bailly, Brigitte Gilbert-Dussardier, Raghida Abou Merhi, Alain Kitzis
Published 2015-01-01