Correlation between multiple RET mutations and severity of Hirschsprung's disease.

doi:10.1007/s00383-012-3196-1

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Article

Correlation between multiple RET mutations and severity of Hirschsprung's disease.

Pediatric surgery international - 1 Feb 2013

Ishii Kunihiro, Doi Takashi, Inoue Ken, Okawada Manabu, Lane Geoffrey J, Yamataka Atsuyuki, Akazawa Chihiro

Abstract excerpt

PURPOSE: The enteric nervous system (ENS), comprising neurons and glial cells, organized as interconnected ganglia within the gut wall, controls peristalsis and the production of secretions. The RET receptor tyrosine kinase is expressed throughout enteric neurogenesis and is required for normal ENS development. Humans with mutations in the RET locus have Hirschsprung's disease (HSCR), and mice lacking RET exhibit...

Topics

Blotting, Western
Cell Proliferation
Cells, Cultured
Hirschsprung Disease
Humans
Japan
Mutation
Oligonucleotide Array Sequence Analysis
Proto-Oncogene Proteins c-ret
Reference Values
Severity of Illness Index

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PMID: 23114404
DOI: 10.1007/s00383-012-3196-1

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