Ontology highlight
ABSTRACT:
SUBMITTER: Paranjapye A
PROVIDER: S-EPMC7036019 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Paranjapye Alekh A Ruffin Manon M Harris Ann A Corvol Harriet H
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 20191114
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 cis-regulatory elements (CREs) that control the three-dimensional structure of the locus, chromatin accessibility and transcription factor recruitment. Variants within these CREs may contribute to the pathophysiology and to the phenotypic heterogeneity by altering CFTR transcript abundance. In addition to the C ...[more]