Hirschsprung disease—integrating basic science and clinical medicine to improve outcomes

RO Heuckeroth - Nature reviews Gastroenterology & hepatology, 2018 - nature.com
Hirschsprung disease is defined by the absence of enteric neurons at the end of the bowel.
The enteric nervous system (ENS) is the intrinsic nervous system of the bowel and regulates …

The enteric nervous system in gastrointestinal disease etiology

AM Holland, AC Bon-Frauches, D Keszthelyi… - Cellular and Molecular …, 2021 - Springer
A highly conserved but convoluted network of neurons and glial cells, the enteric nervous
system (ENS), is positioned along the wall of the gut to coordinate digestive processes and …

Molecular genetic anatomy and risk profile of Hirschsprung's disease

JM Tilghman, AY Ling, TN Turner… - … England Journal of …, 2019 - Mass Medical Soc
Background Hirschsprung's disease, or congenital aganglionosis, is a developmental
disorder of the enteric nervous system and is the most common cause of intestinal …

The science of Hirschsprung disease: what we know and where we are headed

JL Mueller, AM Goldstein - Seminars in pediatric surgery, 2022 - Elsevier
The enteric nervous system (ENS) is a rich network of neurons and glial cells that comprise
the gastrointestinal tract's intrinsic nervous system and are responsible for controlling …

[HTML][HTML] White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies

AJ Burns, AM Goldstein, DF Newgreen, L Stamp… - Developmental …, 2016 - Elsevier
Over the last 20 years, there has been increasing focus on the development of novel stem
cell based therapies for the treatment of disorders and diseases affecting the enteric nervous …

[HTML][HTML] Human semaphorin 3 variants link melanocortin circuit development and energy balance

AA Van Der Klaauw, S Croizier, EM De Oliveira… - Cell, 2019 - cell.com
Hypothalamic melanocortin neurons play a pivotal role in weight regulation. Here, we
examined the contribution of Semaphorin 3 (SEMA3) signaling to the development of these …

Enhancer variants synergistically drive dysfunction of a gene regulatory network in Hirschsprung disease

S Chatterjee, A Kapoor, JA Akiyama, DR Auer, D Lee… - Cell, 2016 - cell.com
Common sequence variants in cis-regulatory elements (CREs) are suspected etiological
causes of complex disorders. We previously identified an intronic enhancer variant in the …

The emerging genetic landscape of Hirschsprung disease and its potential clinical applications

A Karim, CSM Tang, PKH Tam - Frontiers in Pediatrics, 2021 - frontiersin.org
Hirschsprung disease (HSCR) is the leading cause of neonatal functional intestinal
obstruction. It is a rare congenital disease with an incidence of one in 3,500–5,000 live …

Genetics of Hirschsprung's disease

CS Tang, A Karim, Y Zhong, PH Chung… - Pediatric Surgery …, 2023 - Springer
Hirschsprung's disease (HSCR) is a classical model of enteric neuropathy, occurring in
approximately 2–2.8 in 10,000 newborns. It is the commonest form of congenital bowel …

Perineural invasion in colorectal cancer: mechanisms of action and clinical relevance

H Wang, R Huo, K He, L Cheng, S Zhang, M Yu… - Cellular Oncology, 2024 - Springer
Background In recent years, the significance of the nervous system in the tumor
microenvironment has gained increasing attention. The bidirectional communication …