Ontology highlight
ABSTRACT:
SUBMITTER: Schafer S
PROVIDER: S-EPMC5201198 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Nature genetics 20161121 1
Titin-truncating variants (TTNtv) commonly cause dilated cardiomyopathy (DCM). TTNtv are also encountered in ∼1% of the general population, where they may be silent, perhaps reflecting allelic factors. To better understand TTNtv, we integrated TTN allelic series, cardiac imaging and genomic data in humans and studied rat models with disparate TTNtv. In patients with DCM, TTNtv throughout titin were significantly associated with DCM. Ribosomal profiling in rat showed the translational footprint o ...[more]