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- W1999259704 abstract "The involvement of SOX10 and ZFHX1B in Waardenburg–Hirschsprung disease (hypopigmentation, deafness, and absence of enteric ganglia) and Mowat–Wilson syndrome (mental retardation, facial dysmorphy and variable congenital malformations including Hirschsprung disease) respectively, highlighted the importance of both transcription factors during enteric nervous system (ENS) development. The expression and function of SOX10 are now well established, but those of ZFHX1B remain elusive. Here we describe the expression profile of Zfhx1b and its genetic interactions with Sox10 during mouse ENS development. Through phenotype analysis of Sox10;Zfhx1b double mutants, we show that a coordinated and balanced interaction between these two genes is required for normal ENS development. Double mutants present with more severe ENS defects due to decreased proliferation of enteric progenitors and increased neuronal differentiation from E11.5 onwards. Thus, joint activity between these two transcription factors is crucial for proper ENS development and our results contribute to the understanding of the molecular basis of ENS defects observed both in mutant mouse models and in patients carrying SOX10 and ZFHX1B mutations." @default.
- W1999259704 created "2016-06-24" @default.
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- W1999259704 date "2010-05-01" @default.
- W1999259704 modified "2023-10-16" @default.
- W1999259704 title "Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development" @default.
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- W1999259704 doi "https://doi.org/10.1016/j.ydbio.2010.02.036" @default.
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