Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0154059 (
Esophagus
)
2,950
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Megaesophagus is a disease where peristalsis fails to occur properly and esophagus is enlarged. The etiology and mechanism of megaesophagus are not well understood. In this study, we reported that
junctional adhesion molecule C
(
JAM-C
) knockout mice on a C57/B6 background developed progressive megaesophagus from embryonic day (E) 15.5 onward with complete penetrance.
JAM-C
knockout mice exhibited a significant reduction in the number of nerve fibers/ganglia in the wall of the esophagus. However, histological analysis revealed that the esophageal wall thickness and structure of
JAM-C
knockout mice at embryonic stages and young adult were comparable to that of control littermates. Thus, megaesophagus observed in
JAM-C
knockout mice could be attributed, at least in part, to impaired esophageal innervations. Our data suggest
JAM-C
as a potential candidate gene for human megaesophagus, and
JAM-C
knockout mice might serve as a model for the study of human megaesophagus.
Dis
Esophagus
2016 Oct
PMID:Loss of JAM-C leads to impaired esophageal innervations and megaesophagus in mice. 2612 48
