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Title: Genetics of enteric neuropathies.
Authors: Brosens, Erwin
Burns, Alan J
Brooks, Alice S
Matera, Ivana
Borrego, Salud
Ceccherini, Isabella
Tam, Paul K
García-Barceló, Maria-Mercè
Thapar, Nikhil
Benninga, Marc A
Hofstra, Robert M W
Alves, Maria M
Keywords: Aganglionosis;Enteric nervous system;Enteric neuropathy;Gastrointestinal tract;Hypoganglionosis
metadata.dc.subject.mesh: Enteric Nervous System
Gastrointestinal Motility
Gastrointestinal Tract
Gene-Environment Interaction
Hirschsprung Disease
Myocytes, Smooth Muscle
Issue Date: 15-Jul-2016
Abstract: Abnormal development or disturbed functioning of the enteric nervous system (ENS), the intrinsic innervation of the gastrointestinal tract, is associated with the development of neuropathic gastrointestinal motility disorders. Here, we review the underlying molecular basis of these disorders and hypothesize that many of them have a common defective biological mechanism. Genetic burden and environmental components affecting this common mechanism are ultimately responsible for disease severity and symptom heterogeneity. We believe that they act together as the fulcrum in a seesaw balanced with harmful and protective factors, and are responsible for a continuum of symptoms ranging from neuronal hyperplasia to absence of neurons.
metadata.dc.identifier.doi: 10.1016/j.ydbio.2016.07.008
Appears in Collections:Producción 2020

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