Abstract
Enteric nervous system (ENS) development is relevant to Hirschsprung's disease (HSCR; congenital aganglionosis of the terminal bowel), which is still imperfectly treated. Mutations in genes encoding the RET receptor tyrosine kinase and endothelin receptor type B (EDNRB) are involved in HSCR pathogenesis; however, also important in ENS development are molecules that mediate events that are more restricted than those of RET and EDNRB, act later in development and which might not be HSCR-associated. Examples are molecules that function in the guidance of enteric neural crest-derived cells (ENCDCs) and vagal axons, and in regulating the terminal differentiation of enteric neurons from ENCDCs. It is probable that highly prevalent disorders of gastrointestinal sensation and motility result from subtle defects in ENS development.
Copyright © 2010 Elsevier Ltd. All rights reserved.
Publication types
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Research Support, N.I.H., Extramural
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Review
MeSH terms
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Cell Differentiation / genetics
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Cell Movement / genetics
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Endothelin-3 / genetics
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Enteric Nervous System / abnormalities
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Enteric Nervous System / metabolism
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Enteric Nervous System / pathology*
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Extracellular Matrix / metabolism
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Ganglia, Autonomic / growth & development
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Ganglia, Autonomic / metabolism
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Ganglia, Autonomic / pathology
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Gastrointestinal Tract / innervation
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Glial Cell Line-Derived Neurotrophic Factor / genetics
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Glial Cell Line-Derived Neurotrophic Factor Receptors / genetics
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Hirschsprung Disease / etiology*
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Hirschsprung Disease / genetics
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Hirschsprung Disease / metabolism
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Hirschsprung Disease / pathology*
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Humans
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Mutation
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Nerve Growth Factors / genetics
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Netrin-1
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Neural Crest / abnormalities
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Neural Crest / growth & development
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Neural Crest / metabolism
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Neural Crest / pathology*
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Neurons / metabolism*
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Neurons / pathology
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Proto-Oncogene Proteins c-ret / genetics
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Risk Factors
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Tumor Suppressor Proteins / genetics
Substances
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Endothelin-3
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GFRA1 protein, human
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Glial Cell Line-Derived Neurotrophic Factor
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Glial Cell Line-Derived Neurotrophic Factor Receptors
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Nerve Growth Factors
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Tumor Suppressor Proteins
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Netrin-1
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Proto-Oncogene Proteins c-ret
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RET protein, human