Novel mutations in the transcriptional activator domain of the human TBX20 in patients with atrial septal defect.
Irma Eloisa Monroy-MuñozNonanzit Pérez-HernándezJosé Manuel Rodríguez-PérezJosé Esteban Muñoz-MedinaJavier Angeles-MartínezJosé J García-TrejoEdgar Morales-RíosFelipe MassóJuan Pablo Sandoval-JonesJorge Cervantes-SalazarJosé Antonio García-MontesJuan Calderón-ColmeneroGilberto Vargas-AlarcónPublished in: BioMed research international (2015)
This is the first association of TBX20 transcriptional activator domain missense mutations with ASD. These findings could have implications for diagnosis, genetic screening, and patient follow-up.
Keyphrases
- nuclear factor
- endothelial cells
- gene expression
- transcription factor
- intellectual disability
- autism spectrum disorder
- atrial fibrillation
- genome wide
- induced pluripotent stem cells
- pluripotent stem cells
- toll like receptor
- heart failure
- dna methylation
- copy number
- immune response
- oxidative stress
- left ventricular
- inflammatory response
- mitral valve