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Title page for ETD etd-11232014-234212


Type of Document Dissertation
Author Musser, Melissa Anne
Author's Email Address muss@alumni.ou.edu
URN etd-11232014-234212
Title Enteric nervous system deficits in the ganglionated bowel of Hirschsprung mouse models and patients.
Degree PhD
Department Human Genetics
Advisory Committee
Advisor Name Title
Maureen Gannon Committee Chair
Al George Committee Member
Doug Mortlock Committee Member
E. Michelle Southard-Smith Committee Member
Jennifer Kearney Committee Member
Sari Acra Committee Member
Keywords
  • Hirschsprung
  • enteric nervous system
  • neural crest
  • Sox10
  • Ret
  • Ednrb
Date of Defense 2014-09-16
Availability unrestricted
Abstract
Hirschsprung disease, or congenital absence of ganglia in the distal intestine, occurs in approximately every 1 in 5000 live births. Although HSCR patients have the aganglionic portion of their colon removed, many suffer from adverse outcomes post-surgery such as chronic constipation or Hirschsprung-associated enterocolitis (HAEC). Herein, we demonstrate that deficits in the ganglionated portions of the bowel in HSCR mouse models could account for these unwanted outcomes in HSCR patients. Promising preliminary findings in a HSCR cohort may aid in further defining factors affecting HSCR patient health long term.
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