Results 201 to 210 of about 71,270 (242)
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Diagnostic CFTR mutation analysis
Expert Opinion on Medical Diagnostics, 2008The aim of this review is to provide an overview of the current scientific thinking on the molecular diagnosis of cystic fibrosis (CF). The paper describes current practices and technologies regarding the molecular analysis of the CF disease-causing mutations.
D’Apice, MR +2 more
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PIKfyve upregulates CFTR activity
Biochemical and Biophysical Research Communications, 2009The cystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP-activated Cl(-) channel critically important in Cl(-) secreting epithelia. Mutations in the CFTR gene, such as (DeltaF508)CFTR leads to cystic fibrosis, a severe disease with defective Cl(-) secretion. CFTR is stimulated by the serum and glucocorticoid-inducible kinase SGK1.
Gehring, E-M +9 more
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Mechanosensitive gating of CFTR
Nature Cell Biology, 2010Cystic fibrosis transmembrane conductance regulator (CFTR) is an anion and intracellular ligand-gated channel associated with cystic fibrosis, a lethal genetic disorder common among Caucasians. Here we show that CFTR is robustly activated by membrane stretch induced by negative pressures as small as 5 mmHg at the single-channel, cellular and tissue ...
Zhang, Wei Kevin +5 more
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Quantification of CFTR Transcripts
2011Quantification and analysis of CFTR transcripts is of crucial importance not only for cystic fibrosis (CF) diagnosis and prognosis, but also in evaluating the efficiency of various therapeutic approaches to CF, including gene therapy. Reverse transcription (RT) followed by quantitative polymerase chain reaction (qPCR) is at present the most sensitive ...
Anabela S, Ramalho +2 more
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CFTR: Interacting With Everything?
Physiology, 2001More than 1,300 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) are the cause for cystic fibrosis. CFTR is in charge of proper secretion and absorption of electrolytes, and thus the disease is characterized by defective epithelial Cl–secretion and enhanced Na+absorption. Recent studies show that CFTR interacts with
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Expanding CFTR Modulator Testing to Carriers of CFTR Variants
Annals of the American Thoracic Society, 2021Preston E, Bratcher, Pamela L, Zeitlin
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Physiological Reviews, 1999
This is the second single-topic supplement to Physiological Reviews . In introducing the first supplement, Daniel Gardner indicated that the articles reported on the progress of a revolution, first recognized by the series of papers on membrane currents in nerve published by Hodgkin, Huxley ...
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This is the second single-topic supplement to Physiological Reviews . In introducing the first supplement, Daniel Gardner indicated that the articles reported on the progress of a revolution, first recognized by the series of papers on membrane currents in nerve published by Hodgkin, Huxley ...
openaire +2 more sources
CFTR Regulation by Phosphorylation
2011The cystic fibrosis transmembrane conductance regulator (CFTR) is the gene product mutated in cystic fibrosis, a common lethal genetic disease characterized by abnormal electrolyte transport across epithelia. CFTR functions as an ATP-gated, phosphorylation-regulated Cl- channel that mediates agonist-stimulated apical membrane epithelial Cl- and ...
Rodrigo, Alzamora +2 more
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Mechanism of CFTR correction by type I folding correctors
Cell, 2022Karol Fiedorczuk, Jue Chen
exaly