High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients.
Bmc Genomics
Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Balinova, Natalia V NV; Marakhonov, Andrey V AV; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Kutsev, Sergey I SI; Zinchenko, Rena A RA
Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.
Iscience
Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA
Treatment of Cystic Fibrosis Patients Homozygous for F508del with Lumacaftor-Ivacaftor (Orkambi®) Restores Defective CFTR Channel Function in Circulating Mononuclear Cells.
International Journal Of Molecular Sciences
Favia, Maria M; Gallo, Crescenzio C; Guerra, Lorenzo L; De Venuto, Domenica D; Diana, Anna A; Polizzi, Angela Maria AM; Montemurro, Pasqualina P; Mariggiò, Maria Addolorata MA; Leonetti, Giuseppina G; Manca, Antonio A; Casavola, Valeria V; Conese, Massimo M