Genetic variation in CFTR and modifier loci may modulate cystic fibrosis disease severity

A Paranjapye, M Ruffin, A Harris, H Corvol - Journal of Cystic Fibrosis, 2020 - Elsevier
In patients with cystic fibrosis (CF), genetic variants within and outside the CFTR locus
contribute to the variability of the disease severity. CFTR transcription is tightly regulated by …

Revisiting CFTR interactions: old partners and new players

CM Farinha, M Gentzsch - International Journal of Molecular Sciences, 2021 - mdpi.com
Remarkable progress in CFTR research has led to the therapeutic development of
modulators that rescue the basic defect in cystic fibrosis. There is continuous interest in …

Ivacaftor reverses airway mucus abnormalities in a rat model harboring a humanized G551D-CFTR

SE Birket, JM Davis, CM Fernandez-Petty… - American journal of …, 2020 - atsjournals.org
Rationale: Animal models have been highly informative for understanding the
characteristics, onset, and progression of cystic fibrosis (CF) lung disease. In particular, the …

Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosis

V Viart, A Bergougnoux, J Bonini… - European …, 2015 - Eur Respiratory Soc
The CFTR gene displays a tightly regulated tissue-specific and temporal expression.
Mutations in this gene cause cystic fibrosis (CF). In this study we wanted to identify trans …

Prognostic, predictive, and pharmacogenomic assessments of CDX 2 refine stratification of colorectal cancer

J Bruun, A Sveen, R Barros, PW Eide… - Molecular …, 2018 - Wiley Online Library
We aimed to refine the value of CDX 2 as an independent prognostic and predictive
biomarker in colorectal cancer (CRC) according to disease stage and chemotherapy …

Differential contribution of cis-regulatory elements to higher order chromatin structure and expression of the CFTR locus

R Yang, JL Kerschner, N Gosalia, D Neems… - Nucleic acids …, 2016 - academic.oup.com
Higher order chromatin structure establishes domains that organize the genome and
coordinate gene expression. However, the molecular mechanisms controlling transcription …

The FOXA1 transcriptional network coordinates key functions of primary human airway epithelial cells

A Paranjapye, MJ Mutolo, JS Ebron… - American Journal of …, 2020 - journals.physiology.org
The differentiated functions of the human airway epithelium are coordinated by a complex
network of transcription factors. These include the pioneer factors Forkhead box A1 and A2 …

Oxidative Stress Regulates CFTR Gene Expression in Human Airway Epithelial Cells through a Distal Antioxidant Response Element

Z Zhang, SH Leir, A Harris - American journal of respiratory cell and …, 2015 - atsjournals.org
Cystic fibrosis transmembrane conductance regulator gene (CFTR) expression in human
airway epithelial cells involves the recruitment of distal cis-regulatory elements, which are …

A transcription factor network represses CFTR gene expression in airway epithelial cells

MJ Mutolo, SH Leir, SL Fossum, JA Browne… - Biochemical …, 2018 - portlandpress.com
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause
the inherited disorder cystic fibrosis (CF). Lung disease is the major cause of CF morbidity …

The impact of genomic distance on enhancer‐promoter interactions at the CFTR locus

JL Kerschner, F Meckler, GC Coatti… - Journal of Cellular …, 2024 - Wiley Online Library
We identified and characterized multiple cell‐type selective enhancers of the CFTR gene
promoter in previous work and demonstrated active looping of these elements to the …