Article
Reduced endothelin converting enzyme-1 and endothelin-3 mRNA in the developing bowel of male mice may increase expressivity and penetrance of Hirschsprung disease-like distal intestinal aganglionosis.
Developmental dynamics : an official publication of the American Association of Anatomists - 1 Jan 2007
Vohra Bhupinder P S, Planer William, Armon Jennifer, Fu Ming, Jain Sanjay, Heuckeroth Robert O
Abstract excerpt
Hirschsprung disease (distal intestinal aganglionosis, HSCR) is a multigenic disorder with incomplete penetrance, variable expressivity, and a strong male gender bias. Recent studies demonstrated that these genetic patterns arise because gene interactions determine whether enteric nervous system (ENS) precursors successfully proliferate and migrate into the distal bowel. We now demonstrate that male gender bias...
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