Gene–environment interactions and their impact on human health

SJ Virolainen, A VonHandorf, KCMF Viel… - Genes & …, 2023 - nature.com
The molecular processes underlying human health and disease are highly complex. Often,
genetic and environmental factors contribute to a given disease or phenotype in a non …

Epithelial–Mesenchymal Transition Mechanisms in Chronic Airway Diseases: A Common Process to Target?

A Mottais, L Riberi, A Falco, S Soccal, S Gohy… - International journal of …, 2023 - mdpi.com
Epithelial-to-mesenchymal transition (EMT) is a reversible process, in which epithelial cells
lose their epithelial traits and acquire a mesenchymal phenotype. This transformation has …

Genetic modifying factors of cystic fibrosis phenotype: a challenge for modern medicine

LI Butnariu, E Țarcă, E Cojocaru, C Rusu… - Journal of Clinical …, 2021 - mdpi.com
Cystic fibrosis (CF) is a monogenic autosomal recessive disease caused by cystic fibrosis
transmembrane conductance regulator (CFTR) gene mutations. CF is characterized by a …

[PDF][PDF] The impact of highly effective modulator therapy on cystic fibrosis microbiology and inflammation

LJ Caverly, SA Riquelme, KB Hisert - Clinics in chest medicine, 2022 - Elsevier
Highly-effective cystic fibrosis transmembrane conductance regulator (CFTR) modulator
therapy (HEMT) corrects the underlying molecular defect causing cystic fibrosis (CF) …

[HTML][HTML] Cystic fibrosis and primary ciliary dyskinesia: Similarities and differences

R Pereira, T Barbosa, AL Cardoso, R Sá, M Sousa - Respiratory medicine, 2023 - Elsevier
Cystic fibrosis (CF) and Primary ciliary dyskinesia (PCD) are both rare chronic diseases,
inherited disorders associated with multiple complications, namely respiratory …

Modifier factors of cystic fibrosis phenotypes: a focus on modifier genes

J Mésinèle, M Ruffin, L Guillot, H Corvol - International Journal of …, 2022 - mdpi.com
Although cystic fibrosis (CF) is recognized as a monogenic disease, due to variants within
the CFTR (Cystic Fibrosis Transmembrane Regulator) gene, an extreme clinical …

A proteomic survey of the cystic fibrosis transmembrane conductance regulator surfaceome

M Iazzi, S Sadeghi, GD Gupta - International Journal of Molecular …, 2023 - mdpi.com
The aim of this review article is to collate recent contributions of proteomic studies to cystic
fibrosis transmembrane conductance regulator (CFTR) biology. We summarize advances …

Laboratory tools to predict CFTR modulator therapy effectiveness and to monitor disease severity in cystic fibrosis

M Bacalhau, M Camargo… - Journal of Personalized …, 2024 - mdpi.com
The implementation of cystic fibrosis (CF) transmembrane conductance regulator (CFTR)
modulator drugs into clinical practice has been attaining remarkable therapeutic outcomes …

Advances in preclinical in vitro models for the translation of precision medicine for cystic fibrosis

IAL Silva, O Laselva, M Lopes-Pacheco - Journal of Personalized …, 2022 - mdpi.com
The development of preclinical in vitro models has provided significant progress to the
studies of cystic fibrosis (CF), a frequently fatal monogenic disease caused by mutations in …

Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p. Phe508del homozygous) and its association to Orkambi®(lumacaftor and …

LG Santos, SVN Pereira, AHP Kmit, LC Bonadia… - Gene, 2023 - Elsevier
Background Since patients with cystic fibrosis with different Cystic Fibrosis Transmembrane
Regulator (CFTR) genotypes present a wide response variability for modulator drugs such …