The chloride channel cystic fibrosis transmembrane conductance regulator (CFTR) controls cellular quiescence by hyperpolarizing the cell membrane during diapause in the crustacean Artemia [PDF]
, 2019 Cellular quiescence, a reversible state in which growth, proliferation, and other cellular activities are arrested, is important for self-renewal, differentiation, development, regeneration, and stress resistance.
Bossier, Peter +10 more
core +1 more source
Precision Medicine Based on CFTR Genotype for People with Cystic Fibrosis
Pharmacogenomics and Personalized Medicine, 2022 Iram Haq,1,2 Maryam Almulhem,1 Simone Soars,1 David Poulton,2,3 Malcolm Brodlie1,2 1Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 2Paediatric Respiratory Medicine, Great North ...
Haq I +4 more
doaj
Consequences of cystic fibrosis transmembrane regulator mutations on inflammatory cells [PDF]
, 2016 Recent studies in cystic fibrosis (CF) transmembrane regulator (CFTR) mutations and function have shed light on its involvement in disease progression. The extent of cell and tissue distribution of CFTR facilitates systemic dysfunction of ion transport ...
Castro, Guillermo Raul +2 more
core +1 more source
Clinical and Experimental Obstetrics & Gynecology, 2022 Background: Cystic Fibrosis (CF) is a genetic disease which is responsible for different systemic conditions. In particular, CF could be responsible for infertility, especially in the male partner due to congenital bilateral absence of vas deferens ...
Elena D’Alcamo +14 more
doaj +1 more source
Essential role of CFTR in PKA-dependent phosphorylation, alkalinization, and hyperpolarization during human dperm capacitation [PDF]
, 2017 Mammalian sperm require to spend a limited period of time in the female reproductive tract to become competent to fertilize in a process called capacitation.
Austin +63 more
core +1 more source
A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]
, 2017 Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy ...
Alberti, Luisella +10 more
core +2 more sources
Neuromodulation: Technology at the Neural Interface, EarlyView., 2021 Abstract Introduction Deep brain stimulation (DBS) is an effective treatment for refractory obsessive–compulsive disorder (OCD). Neuropsychological assessment contributes to DBS treatment in several ways: it monitors the cognitive safety of the treatment, identifies beneficial or detrimental cognitive side effects and it could aid to explain ...
Tim A. M. Bouwens van der Vlis +7 more
wiley +1 more source
Assembly and functional analysis of an S/MAR based episome with the cystic fibrosis transmembrane conductance regulator gene [PDF]
, 2018 Improving the efficacy of gene therapy vectors is still an important goal toward the development of safe and efficient gene therapy treatments. S/MAR (scaffold/matrix attached region)-based vectors are maintained extra-chromosomally in numerous cell ...
Ascenzioni, Fiorentina +10 more
core +3 more sources
CFTR Modulator Therapy for Rare CFTR Mutants
Journal of Respiration, 2022 Cystic fibrosis (CF), the most common genetic disease among the Caucasian population, is caused by mutations in the gene encoding for the CF transmembrane conductance regulator (CFTR), a chloride epithelial channel whose dysfunction results in severe airway obstruction and inflammation, eventually leading to respiratory failure.
Marco Mergiotti +3 more
openaire +2 more sources