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 …
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 …
lose their epithelial traits and acquire a mesenchymal phenotype. This transformation has …
Genetic modifying factors of cystic fibrosis phenotype: a challenge for modern medicine
Cystic fibrosis (CF) is a monogenic autosomal recessive disease caused by cystic fibrosis
transmembrane conductance regulator (CFTR) gene mutations. CF is characterized by a …
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) …
therapy (HEMT) corrects the underlying molecular defect causing cystic fibrosis (CF) …
[HTML][HTML] Cystic fibrosis and primary ciliary dyskinesia: Similarities and differences
Cystic fibrosis (CF) and Primary ciliary dyskinesia (PCD) are both rare chronic diseases,
inherited disorders associated with multiple complications, namely respiratory …
inherited disorders associated with multiple complications, namely respiratory …
Modifier factors of cystic fibrosis phenotypes: a focus on modifier genes
Although cystic fibrosis (CF) is recognized as a monogenic disease, due to variants within
the CFTR (Cystic Fibrosis Transmembrane Regulator) gene, an extreme clinical …
the CFTR (Cystic Fibrosis Transmembrane Regulator) gene, an extreme clinical …
A proteomic survey of the cystic fibrosis transmembrane conductance regulator surfaceome
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 …
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 …
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
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 …
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 …
Regulator (CFTR) genotypes present a wide response variability for modulator drugs such …