Ontology highlight
ABSTRACT:
SUBMITTER: Sirp A
PROVIDER: S-EPMC7595208 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Sirp Alex A Leite Kristian K Tuvikene Jürgen J Nurm Kaja K Sepp Mari M Timmusk Tõnis T
Scientific reports 20201028 1
The CTG trinucleotide repeat (TNR) expansion in Transcription factor 4 (TCF4) intron 3 is the main cause of Fuchs' endothelial corneal dystrophy (FECD) and may confer an increased risk of developing bipolar disorder (BD). Usage of alternative 5' exons for transcribing the human TCF4 gene results in numerous TCF4 transcripts which encode for at least 18 N-terminally different protein isoforms that vary in their function and transactivation capability. Here we studied the TCF4 region containing th ...[more]