Article
A Novel Zebrafish ret Heterozygous Model of Hirschsprung Disease Identifies a Functional Role for mapk10 as a Modifier of Enteric Nervous System Phenotype Severity.
PLoS genetics - 1 Nov 2016
Heanue Tiffany A, Boesmans Werend, Bell Donald M, Kawakami Koichi, Vanden Berghe Pieter, Pachnis Vassilis
Abstract excerpt
Hirschsprung disease (HSCR) is characterized by absence of enteric neurons from the distal colon and severe intestinal dysmotility. To understand the pathophysiology and genetics of HSCR we developed a unique zebrafish model that allows combined genetic, developmental and in vivo physiological studies. We show that ret mutant zebrafish exhibit cellular, physiological and genetic features of HSCR, including...
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