ABCMdb

PMID: 9415304

Drittanti L, Masciovecchio MV, Gabbarini J, Vega M
Cystic fibrosis: gene therapy or preventive gene transfer?
Gene Ther. 1997 Oct;4(10):1001-3., [PubMed]

Sentences

No. Mutations Sentence Comment

13 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu Although mild mutations like A455E can significantlyference between 'being the cause of` and 'being interactive with` refers to the duration of the functional inter- delay arrival of the PNR, mutant CFTR (including A455E) cannot avoid the lung reaching the PNR nor progressingaction between the elements in play, namely CFTR and CF. Login to comment 16 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu Although mild mutations like A455E can significantly ference between 'being the cause of` and 'being interactive with` refers to the duration of the functional inter- delay arrival of the PNR, mutant CFTR (including A455E) cannot avoid the lung reaching the PNR nor progressing action between the elements in play, namely CFTR and CF. Login to comment 22 ABCC7 p.Ala455Glu According to the epidemiological data, the com-A455E mutations) up to a point where further progression of the phenotype is independent of the CFTR mon rate of death for lung disease CF patients is rn = 15% per year; putting the PNR roughly around at least 6-7activity (or the mutation on the Cftr).1-4 Based on our data, which indicate that the CFTR would be noninter- years before death.1 The 6-7-year span of the lung disease covers greater than 50% of the life span (approximatelyactive throughout the course of the disease it causes, we postulate a new model describing the course of CF. Login to comment 25 ABCC7 p.Ala455Glu According to the epidemiological data, the com- A455E mutations) up to a point where further progression of the phenotype is independent of the CFTR mon rate of death for lung disease CF patients is rn = 15% per year; putting the PNR roughly around at least 6-7 activity (or the mutation on the Cftr).1-4 Based on our data, which indicate that the CFTR would be noninter- years before death.1 The 6-7-year span of the lung disease covers greater than 50% of the life span (approximately active throughout the course of the disease it causes, we postulate a new model describing the course of CF. Login to comment 31 ABCC7 p.Ala455Glu a mild A455E-like lung CF pathway is the time needed for reaching the PNR. Login to comment 32 ABCC7 p.Ala455Glu Beyond the PNR both kinetics areThe concept of PNR has been derived from epidemiological evidence.1 As its biological nature has not been the same.1,3 Therefore, for a young presymtomatic CF lung, a delay in the PNR would mimic the differencecharacterised, a precise definition of the border between CF disease and lung disease based on clinical data is so far between developing a severe CF phenotype (like ⌬F508) or developing a mild CF phenotype (like A455E). Login to comment 34 ABCC7 p.Ala455Glu a mild A455E-like lung CF pathway is the time needed for reaching the PNR. Login to comment 35 ABCC7 p.Ala455Glu Beyond the PNR both kinetics are The concept of PNR has been derived from epidemiological evidence.1 As its biological nature has not been the same.1,3 Therefore, for a young presymtomatic CF lung, a delay in the PNR would mimic the difference characterised, a precise definition of the border between CF disease and lung disease based on clinical data is so far between developing a severe CF phenotype (like DF508) or developing a mild CF phenotype (like A455E). Login to comment