Article
Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes.
Cell death & disease - 6 Oct 2016
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
Abstract excerpt
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 Treacle. Here we report a novel TCS-like zebrafish model displaying features that fully recapitulate the spectrum of...
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