This mutation increased the EC50 for ATP by >10-fold and reduced channel activity by prolonging the closed state. Ap 5A did not elicit current on its own nor did it alter ATP EC50 or maximal current. However, it changed the relationship between ATP concentration and current. At submaximal ...
Using RT–PCR analysis in lymphocytes and different tissue types from patients carrying the mutation, we showed that the PTC introduced by the mutation does neither elicit a degradation of the mRNA through NMD nor an alternative splicing through NAS. Moreover, immunocytochemical analysis in nasal ...
Renal abnormality (RA) is sometimes detected during CAVD assessment.7,13,14Moreover, although several studies have reportedCFTRvariants in CAVD patients with or without RA,7,15others have found noCFTRvariants among individuals with accompanying RA.13,16Therefore, the general incidence of RA among C...
METHODS: Retrospective cohort study comparing phenotypes of California CF newborn screen-positive children (followed 2-8 years) who had two CF-causing mutations (diagnosed as CF) with those who had one mutation from a panel of 40CF-causing mutations (CF40 mut ) and one (IVS8)-(TG)11, ...
(GPI) anchor deficiency, typically leads to multiple congenital anomalies-hypotonia-seizures syndrome. But, the link between PIGN and epilepsy or paroxysmal non-kinesigenic dyskinesia (PNKD) is not well-described. This study reported an individual with PIGN mutation causing developmental and ...
A single recessive mutation, the deleti... M Howard,RA Frizzell,DM Bedwell - 《Nature Medicine》 被引量: 1167发表: 1996年 Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. Here we report the effects of gentamicin treatment on cystic fibrosis ...
The discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene 25 years ago set the stage for: 1) unravelling the molecular and cellular basis of CF lung disease; 2) the generation of animal models to study in vivo pathogenesis; and 3) the development of mutation-specific...
Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation N. Engl. J. Med., 363 (2010), pp. 1991-2003 View in ScopusGoogle Scholar 9 F. Van Goor, S. Hadida, P.D. Grootenhuis, B. Burton, J.H. Stack, K.S. Straley, C.J. Decker, M. Miller, J. McCart...
Mutation-agnostic treatments such as airway gene therapy have the potential to treat any individual with cystic fibrosis (CF), irrespective of their CF transmembrane conductance regulator (CFTR) gene variants. The aim of this study was to employ two CF rat models, Phe508del andCFTRknockout (KO...
Functional analyses including in vitro experiments confirmed the deleterious effect of the 3532GTA frameshift mutation through the creation of a premature termination codon. The analyses also revealed that the 48G promoter variant has a negative effect on both transcription and mRNA level, thus ...