Assessment of CFTR function in homozygous R117H-7T subjects
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چکیده
منابع مشابه
interpersonal function of language in subtitling
translation as a comunicative process is always said to be associated with various aspects of meaning loss or gain. subtitling as a mode of translating, due to special discoursal and textual conditions imposed upon it, is believed to be an obvious case of this loss or gain. presenting the spoken sound track of a film in writing and synchronizing the perception of this text by the viewers with...
15 صفحه اولThe magnitude of ivacaftor effects on fluid secretion via R117H-CFTR channels: Human in vivo measurements
We optically measured effects of orally available ivacaftor (Kalydeco®) on sweat rates of identified glands in 3 R117H subjects, each having a unique set of additional mutations, and compared them with 5 healthy control subjects tested contemporaneously. We injected β-adrenergic agonists intradermally to stimulate CFTR-dependent 'C-sweat' and methacholine to stimulate 'M-sweat', which persists ...
متن کاملRestoration of R117H CFTR folding and function in human airway cells through combination treatment with VX-809 and VX-770.
Cystic fibrosis (CF) is a lethal recessive genetic disease caused primarily by the F508del mutation in the CF transmembrane conductance regulator (CFTR). The potentiator VX-770 was the first CFTR modulator approved by the FDA for treatment of CF patients with the gating mutation G551D. Orkambi is a drug containing VX-770 and corrector VX809 and is approved for treatment of CF patients homozygou...
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To determine if oral dosing with the CFTR-potentiator ivacaftor (VX-770, Kalydeco) improves CFTR-dependent sweating in CF subjects carrying G551D or R117H-5T mutations, we optically measured sweat secretion from 32-143 individually identified glands in each of 8 CF subjects; 6 F508del/G551D, one G551D/R117H-5T, and one I507del/R117H-5T. Two subjects were tested only (-) ivacaftor, 3 only (+) iv...
متن کاملOptimizing Nasal Potential Difference Analysis for CFTR Modulator Development: Assessment of Ivacaftor in CF Subjects with the G551D-CFTR Mutation
Nasal potential difference (NPD) is used as a biomarker of the cystic fibrosis transmembrane conductance regulator (CFTR) and epithelial sodium channel (ENaC) activity. We evaluated methods to detect changes in chloride and sodium transport by NPD based on a secondary analysis of a Phase II CFTR-modulator study. Thirty-nine subjects with CF who also had the G551D-CFTR mutation were randomized t...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2011
ISSN: 1569-1993
DOI: 10.1016/j.jcf.2011.03.009