Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes

Treacher Collins Syndrome (TCS) is a rare congenital disease (1:50 000 live births) characterized by craniofacial defects, including hypoplasia of facial bones, cleft palate and palpebral fissures. Over 90% of the cases are due to mutations in the TCOF1 gene, which codifies the nucleolar protein Tre...

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Detalles Bibliográficos
Autores principales: de Peralta, Mauro S Porcel, Mouguelar, Valeria S, Sdrigotti, María Antonella, Ishiy, Felipe A A, Fanganiello, Roberto D, Passos-Bueno, Maria R, Coux, Gabriela, Calcaterra, Nora B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133970/
https://www.ncbi.nlm.nih.gov/pubmed/27711076
http://dx.doi.org/10.1038/cddis.2016.299

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133970/
https://www.ncbi.nlm.nih.gov/pubmed/27711076
http://dx.doi.org/10.1038/cddis.2016.299

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