Ontology highlight
ABSTRACT:
SUBMITTER: England J
PROVIDER: S-EPMC5441184 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
England Jennifer J Granados-Riveron Javier J Polo-Parada Luis L Kuriakose Diji D Moore Christopher C Brook J David JD Rutland Catrin S CS Setchfield Kerry K Gell Christopher C Ghosh Tushar K TK Bu'Lock Frances F Thornborough Christopher C Ehler Elisabeth E Loughna Siobhan S
Journal of molecular and cellular cardiology 20170327
Tropomyosin 1 (TPM1) is an essential sarcomeric component, stabilising the thin filament and facilitating actin's interaction with myosin. A number of sarcomeric proteins, such as alpha myosin heavy chain, play crucial roles in cardiac development. Mutations in these genes have been linked to congenital heart defects (CHDs), occurring in approximately 1 in 145 live births. To date, TPM1 has not been associated with isolated CHDs. Analysis of 380 CHD cases revealed three novel mutations in the TP ...[more]