Results 41 to 50 of about 81,604 (317)

Assembly and functional analysis of an S/MAR based episome with the cystic fibrosis transmembrane conductance regulator gene [PDF]

open access: yes, 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

Chloride channels regulate differentiation and barrier functions of the mammalian airway. [PDF]

open access: yes, 2020
The conducting airway forms a protective mucosal barrier and is the primary target of airway disorders. The molecular events required for the formation and function of the airway mucosal barrier, as well as the mechanisms by which barrier dysfunction ...
Caplan, Michael J   +14 more
core   +2 more sources

ANDROLOGY EXAMINATION OF PATIENTS WITH PANCREATIC-SUFFICIENT AND PANCREATIC-INSUFFICIENT CYSTIC FIBROSIS

open access: yesАндрология и генитальная хирургия, 2018
Introduction. Cystic fibrosis (CF) is common monogenic disease resulted from CFTR gene mutations. A most of CF male patients are infertile due to the obstructive azoospermia, however, the mechanisms of the reduced fertility in male patients without the ...
S. A. Repina   +11 more
doaj   +1 more source

Pancreatitis in A Patient with Cystic Fibrosis Taking Ivacaftor

open access: yesChildren, 2020
Pancreatitis is rare in pancreatic insufficient cystic fibrosis patients. While pancreatic insufficiency has been considered irreversible until now, in the current era of new therapies with modulators of the Cystic Fibrosis Transmembrane Regulator CFTR ...
Argyri Petrocheilou   +2 more
doaj   +1 more source

A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]

open access: yes, 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

A randomised, double-blind, placebo-controlled trial of repeated nebulisation of non-viral cystic fibrosis transmembrane conductance regulator (CFTR) gene therapy in patients with cystic fibrosis

open access: yesEfficacy and Mechanism Evaluation, 2016
Background: Cystic fibrosis (CF) is a chronic, life-limiting disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene leading to abnormal airway surface ion transport, chronic lung infections, inflammation and eventual ...
Eric WFW Alton   +80 more
doaj   +1 more source

Intracellular Chloride Concentration Changes Modulate IL-1β Expression and Secretion in Human Bronchial Epithelial Cultured Cells [PDF]

open access: yes, 2017
Cystic fibrosis (CF) is caused by mutations in the CFTR gene, which encodes a cAMP‐regulated chloride channel. Several cellular functions are altered in CF cells. However, it is not clear how the CFTR failure induces those alterations.
Clauzure, Mariangeles   +6 more
core   +1 more source

A dos metros de ti/Five Feet Apart (2019) de Justin Baldoni

open access: yesRevista de Medicina y Cine / Journal of Medicine and Movies, 2022
El cine es una efectiva herramienta de enseñanza - aprendizaje que permite ilustrar desde diversos enfoques los procesos complejos de la enfermedad. En este artículo hacemos hincapié sobre estas herramientas educativas que nos brinda la película A dos ...
Natalia Bailon-Moscoso   +5 more
doaj   +1 more source

Cognitive Outcome After Deep Brain Stimulation for Refractory Obsessive–Compulsive Disorder: A Systematic Review

open access: yesNeuromodulation: 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

DIAGNOSTIC PROBLEMS OF MUCOVISCIDOSIS AND WAYS OF SOLUTION IN RUSSIA

open access: yesПедиатрическая фармакология, 2014
Mucoviscidosis is a monogenic autosomal recessive caused by the CFTR gene mutations and characterized by pronounced genetic heterogeneity and clinical polymorphism, which emphasizes the need in comprehensive diagnosis and molecular-genetic verification ...
A. A. Baranov   +10 more
doaj   +1 more source

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