Results 101 to 110 of about 1,231,622 (330)

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

A grumbling concern: A survey of gastrointestinal symptoms in cystic fibrosis in the modulator era [version 2; peer review: 1 approved, 4 approved with reservations]

NIHR Open Research
Background Gastrointestinal symptoms in cystic fibrosis (CF) are common and intrusive to daily life. Relieving gastrointestinal symptoms was identified as an important research priority and previously explored in an international survey in 2018. However,
Vinishaa Premakumar, Vigilius Gleetus, Zoe Elliott, Bu Hayee, Nicola J Rowbotham, Bethinn Evans, Helen Barr, Siobhán B Carr, Daniel Peckham, Alexander Horsley, Alan R Smyth, Natalie Goodchild, Rebecca J Calthorpe   +12 more
doaj   +1 more source

Peripheral Protein Quality Control as a Novel Drug Target for CFTR Stabilizer

Frontiers in Pharmacology, 2018
Conformationally defective cystic fibrosis transmembrane conductance regulator (CFTR) including rescued ΔF508-CFTR is rapidly eliminated from the plasma membrane (PM) even in the presence of a CFTR corrector and potentiator, limiting the therapeutic ...
Ryosuke Fukuda, Tsukasa Okiyoneda
doaj   +1 more source

Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study [PDF]

, 2014
BACKGROUND: Cystic fibrosis (CF) clinically manifests with various levels of severity, which are thought to be modulated by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), modifier genes, and the environment.
Antonio Fernando Ribeiro, Carmen Silvia Bertuzzo, Fernando Augusto de Fernando August Marson, Jose Dirceu Ribeiro   +3 more
core   +1 more source

Cystic fibrosis and fat malabsorption: Pathophysiology of the cystic fibrosis gastrointestinal tract and the impact of highly effective CFTR modulator therapy.

Nutrition in clinical practice
Cystic fibrosis (CF) is a progressive, genetic, multi-organ disease affecting the respiratory, digestive, endocrine, and reproductive systems. CF can affect any aspect of the gastrointestinal (GI) tract, including the esophagus, stomach, small intestine,
Catherine M. McDonald, Elizabeth K Reid, John F Pohl, Tatiana K Yuzyuk, Laura Padula, Kay Vavrina, Kimberly Altman   +6 more
semanticscholar   +1 more source

Ex vivo model predicted in vivo efficacy of CFTR modulator therapy in a child with rare genotype

Molecular Genetics & Genomic Medicine, 2021
New drugs that target the basic defect in cystic fibrosis (CF) patients may now be used in a large number of patients carrying responsive mutations. Nevertheless, further research is needed to extend the benefit of these treatments to patients with rare ...
V. Terlizzi, F. Amato, C. Castellani, B. Ferrari, L. Galietta, G. Castaldo, G. Taccetti   +6 more
semanticscholar   +1 more source

Noninvasive Disease Diagnostics: The Swiss Contribution Highlights to Breath Analysis Research

Helvetica Chimica Acta, EarlyView.
Breath analysis networks across Switzerland linking health monitoring, clinical applications, population studies, and data‐driven public health decisions. ABSTRACT To celebrate the 125th anniversary of the Swiss Chemical Society, we present a review and perspective to highlight the recent research in breath analysis that has been conducted in ...
Stefan James Swift, Kseniya Dryahina, Patrik Španěl, Flora Kontopidou, Christos Kokkotis, Renato Zenobi, Stamatios Giannoukos   +6 more
wiley   +1 more source

(R)-Roscovitine and CFTR modulators enhance killing of multi-drug resistant Burkholderia cenocepacia by cystic fibrosis macrophages

Scientific Reports, 2020
Cystic fibrosis (CF) is characterized by chronic bacterial infections and heightened inflammation. Widespread ineffective antibiotic use has led to increased isolation of drug resistant bacterial strains from respiratory samples.
Chandra L. Shrestha, Shuzhong Zhang, Benjamin Wisniewski, Stephanie Häfner, Jonathan Elie, Laurent Meijer, Benjamin T. Kopp   +6 more
doaj   +1 more source

Airway Epithelial Inflammation In Vitro Augments the Rescue of Mutant CFTR by Current CFTR Modulator Therapies

Frontiers in Pharmacology, 2021
In cystic fibrosis (CF), defective biogenesis and activity of the cystic fibrosis transmembrane conductance regulator (CFTR) leads to airway dehydration and impaired mucociliary clearance, resulting in chronic airway infection and inflammation.
M. Gentzsch, D. Cholon, N. L. Quinney, Mary E. B. Martino, John T. Minges, S. Boyles, T. N. Guhr Lee, C. Esther, C. Ribeiro   +8 more
semanticscholar   +1 more source

Personalized medicine: Function of CFTR variant p.Arg334Trp is rescued by currently available CFTR modulators

Frontiers in Molecular Biosciences, 2023
Most of the 2,100 CFTR gene variants reported to date are still unknown in terms of their disease liability in Cystic Fibrosis (CF) and their molecular and cellular mechanism that leads to CFTR dysfunction. Since some rare variants may respond to currently approved modulators, characterizing their defect and response to these drugs is essential for ...
Railean, Violeta, Rodrigues, Cláudia S., Ramalho, Sofia S., Silva, Iris A. L., Bartosch, Jan, Farinha, Carlos M., Pankonien, Ines, Amaral, Margarida D.   +7 more
openaire   +3 more sources