Dynamics Intrinsic to Cystic Fibrosis Transmembrane Conductance Regulator Function and Stability

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Regulator Function and Stability Dynamics Intrinsic to Cystic Fibrosis Transmembrane Conductance Subject Collection Cystic Fibrosis The Cystic Fibrosis Airway Microbiome

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Cystic Fibrosis Transmembrane Conductance Regulator

Description The cystic fibrosis transmembrane regulator (CFTR) gene codes for the CFTR protein; a chloride channel protein that helps in the transportation of chloride ions and water molecules across the cell membranes of lungs, liver, pancreas, and skin. CFTR is a member of the ATP-binding cassette family of membrane transport proteins, but appears to be unique within this family by functionin...

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Cystic Fibrosis Transmembrane Conductance Regulator

The cystic fibrosis transmembrane conductance regulator (CFTR) Cl channel exhibits lyotropic anion selectivity. Anions that are more readily dehydrated than Cl exhibit permeability ratios (P(S)/P(Cl)) greater than unity and also bind more tightly in the channel. We compared the selectivity of CFTR to that of a synthetic anion-selective membrane [poly(vinyl chloride)-tridodecylmethylammonium chl...

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Structure and function of the cystic fibrosis transmembrane conductance regulator.

Cystic fibrosis (CF) is a lethal autosomal recessive genetic disease caused by mutations in the CF transmembrane conductance regulator (CFTR). Mutations in the CFTR gene may result in a defective processing of its protein and alter the function and regulation of this channel. Mutations are associated with different symptoms, including pancreatic insufficiency, bile duct obstruction, infertility...

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Cystic fibrosis and survival to 40 years: a study of cystic fibrosis transmembrane conductance regulator function.

Significant survival heterogeneity exists in cystic fibrosis. Our aim was to determine whether residual function of the cystic fibrosis transmembrane conductance regulator (CFTR) is present in long-term survivors with severe mutations. Nasal potential difference (PD) and sweat chloride were measured in 34 long-term survivors (aged ≥ 40 yrs) and compared with young patients (18-23 yrs) with seve...

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ژورنال

عنوان ژورنال: Cold Spring Harbor Perspectives in Medicine

سال: 2013

ISSN: 2157-1422

DOI: 10.1101/cshperspect.a009522