Cystic fibrosis genetics: from molecular understanding to clinical application

GR Cutting - Nature Reviews Genetics, 2015 - nature.com
The availability of the human genome sequence and tools for interrogating individual
genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian …

Origins of cystic fibrosis lung disease

DA Stoltz, DK Meyerholz, MJ Welsh - New England Journal of …, 2015 - Mass Medical Soc
Mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator
undermine many host defense systems by inhibiting the function of airway-surface liquid …

[PDF][PDF] ISPAD Clinical Practice Consensus Guidelines 2018: Management of cystic fibrosis‐related diabetes in children and adolescents.

A Moran, K Pillay, D Becker, A Granados, S Hameed… - Pediatric diabetes, 2018 - bnsde.org
Cystic fibrosis-related diabetes (CFRD) is the most common comorbidity associated with
cystic fibrosis (CF).[A]• The pathophysiology of CFRD is complex and includes the loss of …

[HTML][HTML] Cystic fibrosis–related diabetes is caused by islet loss and inflammation

NJ Hart, R Aramandla, G Poffenberger, C Fayolle… - JCI insight, 2018 - ncbi.nlm.nih.gov
Cystic fibrosis–related (CF-related) diabetes (CFRD) is an increasingly common and
devastating comorbidity of CF, affecting approximately 35% of adults with CF. However, the …

In utero and postnatal VX-770 administration rescues multiorgan disease in a ferret model of cystic fibrosis

X Sun, Y Yi, Z Yan, BH Rosen, B Liang… - Science translational …, 2019 - science.org
Cystic fibrosis (CF) is a multiorgan disease caused by mutations in the cystic fibrosis
transmembrane conductance regulator (CFTR). In patients with CF, abnormalities initiate in …

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 …

[HTML][HTML] Animal and cell culture models for cystic fibrosis: which model is right for your application?

A McCarron, D Parsons, M Donnelley - The American journal of pathology, 2021 - Elsevier
Over the past 30 years, a range of cystic fibrosis (CF) animal models have been generated
for research purposes. Different species, including mice, rats, ferrets, rabbits, pigs, sheep …

[HTML][HTML] Update on cystic fibrosis-related diabetes

A Kelly, A Moran - Journal of Cystic Fibrosis, 2013 - Elsevier
Diabetes mellitus has emerged as a common comorbidity in cystic fibrosis and is considered
a clinical entity (cystic fibrosis-related diabetes, CFRD) distinct from that of type 1 diabetes …

Animal models in the pathophysiology of cystic fibrosis

A Semaniakou, RP Croll, V Chappe - Frontiers in pharmacology, 2019 - frontiersin.org
Our understanding of the multiorgan pathology of cystic fibrosis (CF) has improved
impressively during the last decades, but we still lack a full comprehension of the disease …

Pancreatic pathophysiology in cystic fibrosis

KN Gibson‐Corley, DK Meyerholz… - The Journal of …, 2016 - Wiley Online Library
The pancreas is one of the earliest, and most commonly affected, organs in patients with
cystic fibrosis (CF). Studying the pathogenesis of pancreatic disease is limited in CF …