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Novel Mutations in the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal Defect
Joint Authors
Vargas-Alarcón, Gilberto
Pérez-Hernández, Nonanzit
Rodríguez-Pérez, José Manuel
Muñoz-Medina, José Esteban
García-Trejo, José J.
Morales-Ríos, Edgar
Sandoval-Jones, Juan Pablo
Cervantes-Salazar, Jorge
García-Montes, José Antonio
Calderón-Colmenero, Juan
Angeles-Martinez, Javier
Masso, Felipe A.
Monroy-Muñoz, Irma
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-03-05
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Background.
The relevance of TBX20 gene in heart development has been demonstrated in many animal models, but there are few works that try to elucidate the effect of TBX20 mutations in human congenital heart diseases.
In these studies, all missense mutations associated with atrial septal defect (ASD) were found in the DNA-binding T-box domain, none in the transcriptional activator domain.
Methods.
We search for TBX20 mutations in a group of patients with ASD or ventricular septal defect (VSD) using the High Resolution Melting (HRM) method and DNA sequencing.
Results.
We report three missense mutations (Y309D, T370O, and M395R) within the transcriptional activator domain of human TBX20 that were associated with ASD.
Conclusions.
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.
American Psychological Association (APA)
Monroy-Muñoz, Irma& Pérez-Hernández, Nonanzit& Rodríguez-Pérez, José Manuel& Muñoz-Medina, José Esteban& Angeles-Martinez, Javier& García-Trejo, José J.…[et al.]. 2015. Novel Mutations in the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal Defect. BioMed Research International،Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1056492
Modern Language Association (MLA)
Monroy-Muñoz, Irma…[et al.]. Novel Mutations in the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal Defect. BioMed Research International No. 2015 (2015), pp.1-7.
https://search.emarefa.net/detail/BIM-1056492
American Medical Association (AMA)
Monroy-Muñoz, Irma& Pérez-Hernández, Nonanzit& Rodríguez-Pérez, José Manuel& Muñoz-Medina, José Esteban& Angeles-Martinez, Javier& García-Trejo, José J.…[et al.]. Novel Mutations in the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal Defect. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1056492
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1056492