The CFTR gene

RESCUE OF CFTR NBD2 MUTANTS N1303K AND S1235R IS INFLUENCED BY THE FUNCTIONING OF THE AUTOPHAGOSOME

Authors: Qiangni Liu, Inna Sabirzhanova, Murali K. Yanda, Emily A.S. Bergbower, Clément Boinot, William B. Guggino, Liudmila Cebotaru Affiliations: Departments of Medicine and Physiology, Johns Hopkins University, Baltimore, MD, USA […]

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R560S: A CLASS II CFTR MUTATION THAT IS NOT RESCUED BY CURRENT MODULATORS

Authors: Nikhil T Awatade1, Sofia Ramalho1, Iris AL Silva1, Verónica Felício1, Hugo M Botelho1, Eyleen de Poel2, Annelotte Vonk2, Jeffrey M Beekman2, Carlos M Farinha1, Margarida D Amaral1 Affiliations: 1University […]

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THE Q359K/T360K MUTATION CAUSES CYSTIC FIBROSIS IN GEORGIAN JEWS

Authors: Mei-Zahav M1,2, Stafler P1,2, Senderowitz H3, Bentur L4,5, Livnat G5,6, Shteinberg M5,6, Orenstein N2,6, Bazak L2,7, Prais D1,2, Levine H1,2, Gur M4, Khazanov N3, Simhaev L3, Eliyahu H8, Cohen […]

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GENETIC MODIFIERS OF CYSTIC FIBROSIS-RELATED DIABETES

Article citation: Blackman SM, Commander CW, Watson C, Arcara KM, Strug LJ, Stonebraker JR, Wright FA, Rommens JM, Sun L, Pace RG, Norris SA, Durie PR, Drumm ML, Knowles MR, […]

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PHENOTYPIC SPECTRUM OF PATIENTS WITH CYSTIC FIBROSIS AND CYSTIC FIBROSIS-RELATED DISEASE CARRYING P.ARG117HIS

Authors: Katherine Keenan1; Annie Dupuis2,3; Katherine Griffin4; Carlo Castellani5,6; Elizabeth Tullis4,7; Tanja Gonska1,8. Affiliations: 1Physiology and Experimental Medicine, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada 2Clinical Research […]

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PREVALENCE OF MECONIUM ILEUS MARKS THE SEVERITY OF MUTATIONS OF THE CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE

Authors: Dupuis A, Keenan K, Ooi CY et al.   What was your research question? We wanted to evaluate whether the prevalence of meconium ileus (MI, a type of bowel […]

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