The genetic basis of disease

M Jackson, L Marks, GHW May… - Essays in …, 2018 - portlandpress.com
Genetics plays a role, to a greater or lesser extent, in all diseases. Variations in our DNA and
differences in how that DNA functions (alone or in combinations), alongside the environment …

Recent insights into the role of unfolded protein response in ER stress in health and disease

D Lindholm, L Korhonen, O Eriksson… - Frontiers in cell and …, 2017 - frontiersin.org
Unfolded stress response (UPR) is a conserved cellular pathway involved in protein quality
control to maintain homeostasis under different conditions and disease states characterized …

Gene therapy for cystic fibrosis: new tools for precision medicine

JA Lee, A Cho, EN Huang, Y Xu, H Quach, J Hu… - Journal of Translational …, 2021 - Springer
The discovery of the Cystic fibrosis (CF) gene in 1989 has paved the way for incredible
progress in treating the disease such that the mean survival age of individuals living with CF …

Emerging therapeutic approaches for cystic fibrosis. From gene editing to personalized medicine

I Pranke, A Golec, A Hinzpeter, A Edelman… - Frontiers in …, 2019 - frontiersin.org
An improved understanding of the cystic fibrosis (CF) transmembrane conductance regulator
(CFTR) protein structure and the consequences of CFTR gene mutations have allowed the …

Safety, pharmacokinetics, and pharmacodynamics of lumacaftor and ivacaftor combination therapy in children aged 2–5 years with cystic fibrosis homozygous for …

JJ McNamara, SA McColley, G Marigowda… - The Lancet …, 2019 - thelancet.com
Background The efficacy, safety, and tolerability of lumacaftor and ivacaftor are established
in patients aged 6 years and older with cystic fibrosis, homozygous for the F508del-CFTR …

Progression of cystic fibrosis lung disease from childhood to adulthood: neutrophils, neutrophil extracellular trap (NET) formation, and NET degradation

MA Khan, ZS Ali, N Sweezey, H Grasemann… - Genes, 2019 - mdpi.com
Genetic defects in cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene
cause CF. Infants with CFTR mutations show a peribronchial neutrophil infiltration prior to …

Help, hinder, hide and harm: what can we learn from the interactions between Pseudomonas aeruginosa and Staphylococcus aureus during respiratory infections?

DH Limoli, LR Hoffman - Thorax, 2019 - thorax.bmj.com
Recent studies of human respiratory secretions using culture-independent techniques have
found a surprisingly diverse array of microbes. Interactions among these community …

Interactions between Neutrophils and Pseudomonas aeruginosa in Cystic Fibrosis

B Rada - Pathogens, 2017 - mdpi.com
Cystic fibrosis (CF) affects 70,000 patients worldwide. Morbidity and mortality in CF is largely
caused by lung complications due to the triad of impaired mucociliary clearance, microbial …

[HTML][HTML] Personalized or precision medicine? The example of cystic fibrosis

FAL Marson, CS Bertuzzo, JD Ribeiro - Frontiers in pharmacology, 2017 - frontiersin.org
The advent of the knowledge on human genetics, by the identification of disease-associated
variants, culminated in the understanding of human variability. With the genetic knowledge …

Laxative effect of probiotic chocolate on loperamide-induced constipation in rats

JY Eor, PL Tan, SM Lim, DH Choi, SM Yoon… - Food Research …, 2019 - Elsevier
The fecal morphology, defecation frequency, bowel function, intestinal motility, and fecal
bacterial composition were evaluated to investigate the laxative effect of probiotic chocolate …