Article
Male-biased aganglionic megacolon in the TashT mouse model of Hirschsprung disease involves upregulation of p53 protein activity and Ddx3y gene expression.
PLoS genetics - 1 Sept 2020
Cardinal Tatiana, Bergeron Karl-Frédérik, Soret Rodolphe, Souchkova Ouliana, Faure Christophe, Guillon Amélina, Pilon Nicolas
Abstract excerpt
Hirschsprung disease (HSCR) is a complex genetic disorder of neural crest development resulting in incomplete formation of the enteric nervous system (ENS). This life-threatening neurocristopathy affects 1/5000 live births, with a currently unexplained male-biased ratio. To address this lack of knowledge, we took advantage of the TashT mutant mouse line, which is the only HSCR model to display a robust male bias....
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