ABCMdb

PMID: 26431978

Jacquot J, Delion M, Gangloff S, Braux J, Velard F
Bone disease in cystic fibrosis: new pathogenic insights opening novel therapies.
Osteoporos Int. 2015 Oct 2., [PubMed]

Sentences

No. Mutations Sentence Comment

79 ABCC7 p.Gly542* In human osteoblasts obtained from a 25-year-old CF male with the F508del/ G542X mutation in CFTR, we discovered a defective CFTR-mediated Cl-channel activity and a severe deficit of the production of OPG [59] which is a key regulator in bone density [60]. Login to comment 181 ABCC7 p.Gly551Asp Thus, this opens the possibility of a clinical use of C18 and/or other analogues of C18 in patients bearing the F508del mutation in CFTR. Kalydeco, a CFTR potentiator, was approved by the Food and Drug Administration (FDA) in 2012 for treatment of the 4 to 5 % patients who have the Gly551Asp mutation in CFTR. Kalydeco corrects the sweat chloride defect, improves pulmonary function and patient-reported respiratory symptoms, and results in substantial weight gain [144]. Login to comment 271 ABCC7 p.Gly551Asp Davies JC, Wainwright CE, Canny GJ, Chilvers MA, Howenstine MS, Munck A, Mainz JG, Rodriguez S, Li H, Yen K, Ordonez CL, Ahrens R (2013) Efficacy and safety of ivacaftor in patients aged 6 to 11 years with cystic fibrosis with a G551D mutation. Login to comment 464 ABCC7 p.Gly551Asp Ramsey BW, Davies J, McElvaney NG, Tullis E, Bell SC, Drevinek P, Griese M, McKone EF, Wainwright CE, Konstan MW, Moss R, Ratjen F, Sermet-Gaudelus I, Rowe SM, Dong Q, Rodriguez S, Yen K, Ordonez C, Elborn JS (2011) A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. Login to comment