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Evaluating the role of connexin43 in congenital heart disease: Screening for mutations in patients with outflow tract anomalies and the analysis of knock-in mouse models

BACKGROUND: GJA1 gene encodes a gap junction protein known as connexin 43 (Cx43). Cx43 is abundantly expressed in the ventricular myocardium and in cardiac neural crest cells. Cx43 is proposed to play an important role in human congenital heart disease, as GJA1 knock-out mice die neonatally from out...

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Detalles Bibliográficos
Autores principales: Huang, Guo-Ying, Xie, Li-Jian, Linask, Kaari L., Zhang, Chen, Zhao, Xiao-Qing, Yang, Yi, Zhou, Guo-Min, Wu, Ying-Jie, Marquez-Rosado, Lucrecia, McElhinney, Doff B., Goldmuntz, Elizabeth, Liu, Chengyu, Lampe, Paul D., Chatterjee, Bishwanath, Lo, Cecilia W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications Pvt Ltd 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3224440/
https://www.ncbi.nlm.nih.gov/pubmed/22135478
http://dx.doi.org/10.4103/0975-3583.89804