Results 21 to 30 of about 31,972 (221)

A conserved WXXE motif is an apical delivery determinant of ABC transporter C subfamily isoforms

open access: yesCell Structure and Function, 2023
ATP-binding cassette transporter isoform C7 (ABCC7), also designated as cystic fibrosis transmembrane conductance regulator (CFTR), is exclusively targeted to the apical plasma membrane of polarized epithelial cells.
Md Shajedul Haque   +2 more
doaj   +1 more source

Precision Medicine Based on CFTR Genotype for People with Cystic Fibrosis

open access: yesPharmacogenomics 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  

Cystic Fibrosis assessment in infertile couples: genetic analysis trough the Next Generation Sequencing technique

open access: yesClinical 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

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

The road for survival improvement of cystic fibrosis patients in Arab countries

open access: yesInternational Journal of Pediatrics & Adolescent Medicine, 2015
Cystic fibrosis (CF) is a lethal, monogenic disorder that affects multiple organ sys-tems of the body. The incidence has been described before in the Middle East to be 1 in 2000 to 1 in 5800 live births, and the median survival was estimated to be from ...
Hanaa Banjar, Gerhild Angyalosi
doaj   +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

Potential Relationship Between YTHDF3 and CFTR in Myocardial Ischemia-Reperfusion Injury. [PDF]

open access: yesJ Cell Mol Med
ABSTRACT Myocardial ischemia–reperfusion injury (MIRI) is a common pathophysiological process in reperfusion therapy following myocardial infarction. It exacerbates myocardial damage and negatively impacts patient prognosis. This study aims to explore potential regulatory targets and related mechanisms in MIRI.
Tang B, Zhu C, Wang H, Gao M, Li T.
europepmc   +2 more sources

CFTR Modulator Therapy for Rare CFTR Mutants

open access: yesJournal 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

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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